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GNAS
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  • GNAS
PROTEIN STRUCTURE
ANTIBODIES
AND
VALIDATION
Protein structures
GENERAL INFORMATIONi

General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.

Gene namei

Official gene symbol, which is typically a short form of the gene name, according to HGNC.

GNAS
Synonyms GNAS1, GNASXL, GPSA, NESP, NESP55, SCG6, SgVI
Gene descriptioni

Full gene name according to HGNC.

GNAS complex locus
Protein classi

Assigned HPA protein class(es) for the encoded protein(s).

Read more
Cancer-related genes
Disease related genes
Human disease related genes
Potential drug targets
Transporters
Predicted locationi

All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.

  • Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.

  • Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).

The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.

Read more
Intracellular,Membrane
Protein evidence Evidence at protein level (all genes)
GENE INFORMATIONi

Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.

Chromosome 20
Cytoband q13.32
Chromosome location (bp) 58839718 - 58911192
Number of transcriptsi

Number of protein-coding transcripts from the gene as defined by Ensembl.

49
Ensembl ENSG00000087460 (version 103.38)
Entrez gene 2778
HGNC HGNC:4392
UniProt O95467 (UniProt - Evidence at transcript level), P63092 (UniProt - Evidence at protein level), P84996 (UniProt - Inferred from homology), Q5JWF2 (UniProt - Evidence at protein level)
neXtProt NX_O95467, NX_P63092, NX_P84996, NX_Q5JWF2
Antibodypedia GNAS antibodies


PROTEIN STRUCTUREi

The Structure section provides predicted structures from the Alphafold protein structure database and available experimental structures from Protein Data Bank (PDB).

In the Structure drop-down menu all experimental structures from PDB are available for selection and display. The structures are displayed using the NGL Viewer and can be zoomed-in and rotated either manually or by checking the Autorotate box. The Color scheme can be selected to show the residue index, chain name or confidence score (as B-factors and pLDDT score for experimental and predicted structures, respectively). The positions for available antigen sequences in the structure are shown if Antigens is turned to ON, and the Variants slider can be used to show the positions of clinical and population variants.https://github.com/nglviewer/ngl

Read more

Predicted


Description: Structure prediction from Alphafold project. Structure version 2

# Chains: 1      # Clinical variants: 22      # Population variants: 637

Antigens:

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On

Variants:

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Clinical
Population

Color scheme:

Confidence
Residue index
Chain name

Autorotate:

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On



PROTEIN BROWSERi

The protein browser displays the antigen location on the target protein(s) and the features of the target protein. The tabs at the top of the protein view section can be used to switch between the different splice variants to which an antigen has been mapped.

At the top of the view, the position of the antigen (identified by the corresponding HPA identifier) is shown as a green bar. A yellow triangle on the bar indicates a <100% sequence identity to the protein target.

Below the antigens, the maximum percent sequence identity of the protein to all other proteins from other human genes is displayed, using a sliding window of 10 aa residues (HsID 10) or 50 aa residues (HsID 50). The region with the lowest possible identity is always selected for antigen design, with a maximum identity of 60% allowed for designing a single-target antigen (read more).

The curve in blue displays the predicted antigenicity i.e. the tendency for different regions of the protein to generate an immune response, with peak regions being predicted to be more antigenic.The curve shows average values based on a sliding window approach using an in-house propensity scale. (read more).

If a signal peptide is predicted by a majority of the signal peptide predictors SPOCTOPUS, SignalP 4.0, and Phobius (turquoise) and/or transmembrane regions (orange) are predicted by MDM, these are displayed.

Low complexity regions are shown in yellow and InterPro regions in green. Common (purple) and unique (grey) regions between different splice variants of the gene are also displayed (read more), and at the bottom of the protein view is the protein scale.
«
GNAS-201
GNAS-202
GNAS-203
GNAS-204
GNAS-205
GNAS-206
GNAS-207
GNAS-208
GNAS-209
GNAS-210
GNAS-211
GNAS-212
GNAS-213
GNAS-214
GNAS-215
GNAS-216
GNAS-217
GNAS-218
GNAS-219
GNAS-220
GNAS-222
GNAS-223
GNAS-224
GNAS-225
GNAS-226
GNAS-227
GNAS-228
GNAS-229
GNAS-232
GNAS-233
GNAS-234
GNAS-236
GNAS-237
GNAS-238
GNAS-240
GNAS-242
GNAS-243
GNAS-246
GNAS-247
GNAS-249
GNAS-250
GNAS-251
GNAS-255
GNAS-256
GNAS-257
GNAS-258
GNAS-259
GNAS-260
GNAS-261
»


PROTEIN INFORMATIONi

The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.

The ENSP identifier links to the Ensembl website protein summary, while the ENST identifier links to the Ensembl website transcript summary for the selected splice variant. The data in the UniProt column can be expanded to show links to all matching UniProt identifiers for this protein.

The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.

The Gene Ontology terms assigned to this protein are listed if expanding the Gene ontology column. The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide (according to a majority of the signal peptide predictors SPOCTOPUS, SignalP 4.0, and Phobius) and the number of predicted transmembrane region(s) (according to MDM) are also reported.
Splice variant UniProt Protein class Gene ontology Length & mass Signal peptide
(predicted)
Transmembrane regions
(predicted)
GNAS-201
ENSP00000265620
ENST00000265620
P63092 [Direct mapping]
Guanine nucleotide-binding protein G(s) subunit alpha isoforms short
Show all
Transporters
   Accessory Factors Involved in Transport
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Cancer-related genes
   Candidate cancer biomarkers
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Missense Mutations
Disease related genes
Potential drug targets
Human disease related genes
   Congenital malformations
   Congenital malformations of the musculoskeletal system
   Endocrine and metabolic diseases
   Hypothalamus and pituitary gland diseases
   Parathyroid diseases
   Adrenal gland diseases
   Musculoskeletal diseases
   Skeletal diseases
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000166 [nucleotide binding]
GO:0003091 [renal water homeostasis]
GO:0003924 [GTPase activity]
GO:0005515 [protein binding]
GO:0005525 [GTP binding]
GO:0005737 [cytoplasm]
GO:0005829 [cytosol]
GO:0005834 [heterotrimeric G-protein complex]
GO:0005886 [plasma membrane]
GO:0007165 [signal transduction]
GO:0007186 [G protein-coupled receptor signaling pathway]
GO:0007189 [adenylate cyclase-activating G protein-coupled receptor signaling pathway]
GO:0007190 [activation of adenylate cyclase activity]
GO:0007191 [adenylate cyclase-activating dopamine receptor signaling pathway]
GO:0007608 [sensory perception of smell]
GO:0010856 [adenylate cyclase activator activity]
GO:0016020 [membrane]
GO:0019001 [guanyl nucleotide binding]
GO:0031224 [intrinsic component of membrane]
GO:0031683 [G-protein beta/gamma-subunit complex binding]
GO:0032588 [trans-Golgi network membrane]
GO:0043547 [positive regulation of GTPase activity]
GO:0043950 [positive regulation of cAMP-mediated signaling]
GO:0046872 [metal ion binding]
GO:0046907 [intracellular transport]
GO:0048589 [developmental growth]
GO:0050796 [regulation of insulin secretion]
GO:0050890 [cognition]
GO:0060348 [bone development]
GO:0060789 [hair follicle placode formation]
GO:0070062 [extracellular exosome]
GO:0070527 [platelet aggregation]
GO:0071377 [cellular response to glucagon stimulus]
GO:0071380 [cellular response to prostaglandin E stimulus]
GO:0071870 [cellular response to catecholamine stimulus]
GO:0071880 [adenylate cyclase-activating adrenergic receptor signaling pathway]
GO:0120162 [positive regulation of cold-induced thermogenesis]
Show all
379 aa
44.2 kDa
No 0
GNAS-202
ENSP00000304472
ENST00000306090
A0A0A0MR13 [Direct mapping]
Guanine nucleotide-binding protein G(s) subunit alpha isoforms short
Show all
   SPOCTOPUS predicted secreted proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Cancer-related genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Missense Mutations
Human disease related genes
   Congenital malformations
   Congenital malformations of the musculoskeletal system
   Endocrine and metabolic diseases
   Hypothalamus and pituitary gland diseases
   Parathyroid diseases
   Adrenal gland diseases
   Musculoskeletal diseases
   Skeletal diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003924 [GTPase activity]
GO:0005525 [GTP binding]
GO:0007165 [signal transduction]
GO:0007186 [G protein-coupled receptor signaling pathway]
GO:0019001 [guanyl nucleotide binding]
GO:0031683 [G-protein beta/gamma-subunit complex binding]
Show all
362 aa
41.8 kDa
No 0
GNAS-203
ENSP00000302237
ENST00000306120
P84996 [Direct mapping]
Protein ALEX
Show all
   Secreted proteins predicted by MDSEC
   Phobius predicted secreted proteins
   SPOCTOPUS predicted secreted proteins
Predicted intracellular proteins
Cancer-related genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Missense Mutations
Disease related genes
Human disease related genes
   Congenital malformations
   Congenital malformations of the musculoskeletal system
   Endocrine and metabolic diseases
   Hypothalamus and pituitary gland diseases
   Parathyroid diseases
   Adrenal gland diseases
   Musculoskeletal diseases
   Skeletal diseases
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0001726 [ruffle]
GO:0003924 [GTPase activity]
GO:0005515 [protein binding]
GO:0005829 [cytosol]
GO:0005886 [plasma membrane]
GO:0007186 [G protein-coupled receptor signaling pathway]
GO:0007189 [adenylate cyclase-activating G protein-coupled receptor signaling pathway]
GO:0009966 [regulation of signal transduction]
GO:0016020 [membrane]
GO:0019001 [guanyl nucleotide binding]
GO:0031683 [G-protein beta/gamma-subunit complex binding]
GO:0042995 [cell projection]
GO:0048589 [developmental growth]
GO:0050890 [cognition]
GO:0060348 [bone development]
GO:0060789 [hair follicle placode formation]
GO:0070527 [platelet aggregation]
GO:0120162 [positive regulation of cold-induced thermogenesis]
Show all
690 aa
74.9 kDa
Yes 0
GNAS-204
ENSP00000323571
ENST00000313949
O95467 [Direct mapping]
Neuroendocrine secretory protein 55 LHAL tetrapeptide GPIPIRRH peptide
Show all
   THUMBUP predicted membrane proteins
   Secreted proteins predicted by MDSEC
   Phobius predicted secreted proteins
   SPOCTOPUS predicted secreted proteins
Predicted intracellular proteins
Cancer-related genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Missense Mutations
Disease related genes
Human disease related genes
   Congenital malformations
   Congenital malformations of the musculoskeletal system
   Endocrine and metabolic diseases
   Hypothalamus and pituitary gland diseases
   Parathyroid diseases
   Adrenal gland diseases
   Musculoskeletal diseases
   Skeletal diseases
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003674 [molecular_function]
GO:0005576 [extracellular region]
GO:0005634 [nucleus]
GO:0005737 [cytoplasm]
GO:0007565 [female pregnancy]
GO:0009306 [protein secretion]
GO:0030133 [transport vesicle]
GO:0031410 [cytoplasmic vesicle]
GO:0040015 [negative regulation of multicellular organism growth]
GO:0048471 [perinuclear region of cytoplasm]
GO:0071107 [response to parathyroid hormone]
GO:0120162 [positive regulation of cold-induced thermogenesis]
Show all
245 aa
28 kDa
Yes 0
GNAS-205
ENSP00000345971
ENST00000338783
A2A2R6 [Direct mapping]
Guanine nucleotide-binding protein G(s) subunit alpha isoforms short
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Cancer-related genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Missense Mutations
Human disease related genes
   Congenital malformations
   Congenital malformations of the musculoskeletal system
   Endocrine and metabolic diseases
   Hypothalamus and pituitary gland diseases
   Parathyroid diseases
   Adrenal gland diseases
   Musculoskeletal diseases
   Skeletal diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003924 [GTPase activity]
GO:0007186 [G protein-coupled receptor signaling pathway]
GO:0019001 [guanyl nucleotide binding]
GO:0031683 [G-protein beta/gamma-subunit complex binding]
Show all
72 aa
8.2 kDa
No 0
GNAS-206
ENSP00000265621
ENST00000349036
Q5JWE9 [Direct mapping]
Guanine nucleotide-binding protein G(s) subunit alpha isoforms short
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Cancer-related genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Missense Mutations
Human disease related genes
   Congenital malformations
   Congenital malformations of the musculoskeletal system
   Endocrine and metabolic diseases
   Hypothalamus and pituitary gland diseases
   Parathyroid diseases
   Adrenal gland diseases
   Musculoskeletal diseases
   Skeletal diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003924 [GTPase activity]
GO:0005525 [GTP binding]
GO:0007165 [signal transduction]
GO:0007186 [G protein-coupled receptor signaling pathway]
GO:0019001 [guanyl nucleotide binding]
GO:0031683 [G-protein beta/gamma-subunit complex binding]
Show all
812 aa
84.7 kDa
No 0
GNAS-207
ENSP00000346328
ENST00000354359
P63092 [Direct mapping]
Guanine nucleotide-binding protein G(s) subunit alpha isoforms short
Show all
Transporters
   Accessory Factors Involved in Transport
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Cancer-related genes
   Candidate cancer biomarkers
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Missense Mutations
Disease related genes
Potential drug targets
Human disease related genes
   Congenital malformations
   Congenital malformations of the musculoskeletal system
   Endocrine and metabolic diseases
   Hypothalamus and pituitary gland diseases
   Parathyroid diseases
   Adrenal gland diseases
   Musculoskeletal diseases
   Skeletal diseases
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000166 [nucleotide binding]
GO:0003091 [renal water homeostasis]
GO:0003924 [GTPase activity]
GO:0005515 [protein binding]
GO:0005525 [GTP binding]
GO:0005737 [cytoplasm]
GO:0005829 [cytosol]
GO:0005834 [heterotrimeric G-protein complex]
GO:0005886 [plasma membrane]
GO:0007165 [signal transduction]
GO:0007186 [G protein-coupled receptor signaling pathway]
GO:0007189 [adenylate cyclase-activating G protein-coupled receptor signaling pathway]
GO:0007190 [activation of adenylate cyclase activity]
GO:0007191 [adenylate cyclase-activating dopamine receptor signaling pathway]
GO:0007608 [sensory perception of smell]
GO:0010856 [adenylate cyclase activator activity]
GO:0016020 [membrane]
GO:0019001 [guanyl nucleotide binding]
GO:0031224 [intrinsic component of membrane]
GO:0031683 [G-protein beta/gamma-subunit complex binding]
GO:0032588 [trans-Golgi network membrane]
GO:0043547 [positive regulation of GTPase activity]
GO:0043950 [positive regulation of cAMP-mediated signaling]
GO:0046872 [metal ion binding]
GO:0046907 [intracellular transport]
GO:0048589 [developmental growth]
GO:0050796 [regulation of insulin secretion]
GO:0050890 [cognition]
GO:0060348 [bone development]
GO:0060789 [hair follicle placode formation]
GO:0070062 [extracellular exosome]
GO:0070527 [platelet aggregation]
GO:0071377 [cellular response to glucagon stimulus]
GO:0071380 [cellular response to prostaglandin E stimulus]
GO:0071870 [cellular response to catecholamine stimulus]
GO:0071880 [adenylate cyclase-activating adrenergic receptor signaling pathway]
GO:0120162 [positive regulation of cold-induced thermogenesis]
Show all
395 aa
45.8 kDa
No 0
GNAS-208
ENSP00000360115
ENST00000371075
O95467 [Direct mapping]
Neuroendocrine secretory protein 55 LHAL tetrapeptide GPIPIRRH peptide
Show all
   THUMBUP predicted membrane proteins
   Secreted proteins predicted by MDSEC
   Phobius predicted secreted proteins
   SPOCTOPUS predicted secreted proteins
Predicted intracellular proteins
Cancer-related genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Missense Mutations
Disease related genes
Human disease related genes
   Congenital malformations
   Congenital malformations of the musculoskeletal system
   Endocrine and metabolic diseases
   Hypothalamus and pituitary gland diseases
   Parathyroid diseases
   Adrenal gland diseases
   Musculoskeletal diseases
   Skeletal diseases
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003674 [molecular_function]
GO:0005576 [extracellular region]
GO:0005634 [nucleus]
GO:0005737 [cytoplasm]
GO:0007565 [female pregnancy]
GO:0009306 [protein secretion]
GO:0030133 [transport vesicle]
GO:0031410 [cytoplasmic vesicle]
GO:0040015 [negative regulation of multicellular organism growth]
GO:0048471 [perinuclear region of cytoplasm]
GO:0071107 [response to parathyroid hormone]
GO:0120162 [positive regulation of cold-induced thermogenesis]
Show all
245 aa
28 kDa
Yes 0
GNAS-209
ENSP00000360122
ENST00000371081
Q5JWD1 [Direct mapping]
Guanine nucleotide-binding protein G(s) subunit alpha isoforms short
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Cancer-related genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Missense Mutations
Human disease related genes
   Congenital malformations
   Congenital malformations of the musculoskeletal system
   Endocrine and metabolic diseases
   Hypothalamus and pituitary gland diseases
   Parathyroid diseases
   Adrenal gland diseases
   Musculoskeletal diseases
   Skeletal diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003924 [GTPase activity]
GO:0007186 [G protein-coupled receptor signaling pathway]
GO:0019001 [guanyl nucleotide binding]
GO:0031683 [G-protein beta/gamma-subunit complex binding]
Show all
87 aa
9.6 kDa
No 0
GNAS-210
ENSP00000360126
ENST00000371085
P63092 [Direct mapping]
Guanine nucleotide-binding protein G(s) subunit alpha isoforms short
A0A0S2Z3H8 [Target identity:100%; Query identity:100%]
GNAS complex locus isoform 1
Show all
Transporters
   Accessory Factors Involved in Transport
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Cancer-related genes
   Candidate cancer biomarkers
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Missense Mutations
Disease related genes
Potential drug targets
Human disease related genes
   Congenital malformations
   Congenital malformations of the musculoskeletal system
   Endocrine and metabolic diseases
   Hypothalamus and pituitary gland diseases
   Parathyroid diseases
   Adrenal gland diseases
   Musculoskeletal diseases
   Skeletal diseases
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000166 [nucleotide binding]
GO:0003091 [renal water homeostasis]
GO:0003924 [GTPase activity]
GO:0005515 [protein binding]
GO:0005525 [GTP binding]
GO:0005737 [cytoplasm]
GO:0005829 [cytosol]
GO:0005834 [heterotrimeric G-protein complex]
GO:0005886 [plasma membrane]
GO:0007165 [signal transduction]
GO:0007186 [G protein-coupled receptor signaling pathway]
GO:0007189 [adenylate cyclase-activating G protein-coupled receptor signaling pathway]
GO:0007190 [activation of adenylate cyclase activity]
GO:0007191 [adenylate cyclase-activating dopamine receptor signaling pathway]
GO:0007608 [sensory perception of smell]
GO:0010856 [adenylate cyclase activator activity]
GO:0016020 [membrane]
GO:0019001 [guanyl nucleotide binding]
GO:0031224 [intrinsic component of membrane]
GO:0031683 [G-protein beta/gamma-subunit complex binding]
GO:0032588 [trans-Golgi network membrane]
GO:0043547 [positive regulation of GTPase activity]
GO:0043950 [positive regulation of cAMP-mediated signaling]
GO:0046872 [metal ion binding]
GO:0046907 [intracellular transport]
GO:0048589 [developmental growth]
GO:0050796 [regulation of insulin secretion]
GO:0050890 [cognition]
GO:0060348 [bone development]
GO:0060789 [hair follicle placode formation]
GO:0070062 [extracellular exosome]
GO:0070527 [platelet aggregation]
GO:0071377 [cellular response to glucagon stimulus]
GO:0071380 [cellular response to prostaglandin E stimulus]
GO:0071870 [cellular response to catecholamine stimulus]
GO:0071880 [adenylate cyclase-activating adrenergic receptor signaling pathway]
GO:0120162 [positive regulation of cold-induced thermogenesis]
Show all
394 aa
45.7 kDa
No 0
GNAS-211
ENSP00000360136
ENST00000371095
P63092 [Direct mapping]
Guanine nucleotide-binding protein G(s) subunit alpha isoforms short
A0A0S2Z3S5 [Target identity:100%; Query identity:100%]
GNAS complex locus isoform 2
Show all
Transporters
   Accessory Factors Involved in Transport
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Cancer-related genes
   Candidate cancer biomarkers
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Missense Mutations
Disease related genes
Potential drug targets
Human disease related genes
   Congenital malformations
   Congenital malformations of the musculoskeletal system
   Endocrine and metabolic diseases
   Hypothalamus and pituitary gland diseases
   Parathyroid diseases
   Adrenal gland diseases
   Musculoskeletal diseases
   Skeletal diseases
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000166 [nucleotide binding]
GO:0003091 [renal water homeostasis]
GO:0003924 [GTPase activity]
GO:0005515 [protein binding]
GO:0005525 [GTP binding]
GO:0005737 [cytoplasm]
GO:0005829 [cytosol]
GO:0005834 [heterotrimeric G-protein complex]
GO:0005886 [plasma membrane]
GO:0007165 [signal transduction]
GO:0007186 [G protein-coupled receptor signaling pathway]
GO:0007189 [adenylate cyclase-activating G protein-coupled receptor signaling pathway]
GO:0007190 [activation of adenylate cyclase activity]
GO:0007191 [adenylate cyclase-activating dopamine receptor signaling pathway]
GO:0007608 [sensory perception of smell]
GO:0010856 [adenylate cyclase activator activity]
GO:0016020 [membrane]
GO:0019001 [guanyl nucleotide binding]
GO:0031224 [intrinsic component of membrane]
GO:0031683 [G-protein beta/gamma-subunit complex binding]
GO:0032588 [trans-Golgi network membrane]
GO:0043547 [positive regulation of GTPase activity]
GO:0043950 [positive regulation of cAMP-mediated signaling]
GO:0046872 [metal ion binding]
GO:0046907 [intracellular transport]
GO:0048589 [developmental growth]
GO:0050796 [regulation of insulin secretion]
GO:0050890 [cognition]
GO:0060348 [bone development]
GO:0060789 [hair follicle placode formation]
GO:0070062 [extracellular exosome]
GO:0070527 [platelet aggregation]
GO:0071377 [cellular response to glucagon stimulus]
GO:0071380 [cellular response to prostaglandin E stimulus]
GO:0071870 [cellular response to catecholamine stimulus]
GO:0071880 [adenylate cyclase-activating adrenergic receptor signaling pathway]
GO:0120162 [positive regulation of cold-induced thermogenesis]
Show all
380 aa
44.3 kDa
No 0
GNAS-212
ENSP00000360139
ENST00000371098
O95467 [Direct mapping]
Neuroendocrine secretory protein 55 LHAL tetrapeptide GPIPIRRH peptide
Show all
   THUMBUP predicted membrane proteins
   Secreted proteins predicted by MDSEC
   Phobius predicted secreted proteins
   SPOCTOPUS predicted secreted proteins
Predicted intracellular proteins
Cancer-related genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Missense Mutations
Disease related genes
Human disease related genes
   Congenital malformations
   Congenital malformations of the musculoskeletal system
   Endocrine and metabolic diseases
   Hypothalamus and pituitary gland diseases
   Parathyroid diseases
   Adrenal gland diseases
   Musculoskeletal diseases
   Skeletal diseases
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003674 [molecular_function]
GO:0005576 [extracellular region]
GO:0005634 [nucleus]
GO:0005737 [cytoplasm]
GO:0007565 [female pregnancy]
GO:0009306 [protein secretion]
GO:0030133 [transport vesicle]
GO:0031410 [cytoplasmic vesicle]
GO:0040015 [negative regulation of multicellular organism growth]
GO:0048471 [perinuclear region of cytoplasm]
GO:0071107 [response to parathyroid hormone]
GO:0120162 [positive regulation of cold-induced thermogenesis]
Show all
245 aa
28 kDa
Yes 0
GNAS-213
ENSP00000360140
ENST00000371099
X6R7U9 [Direct mapping]
Guanine nucleotide-binding protein G(s) subunit alpha isoforms short
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Cancer-related genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Missense Mutations
Human disease related genes
   Congenital malformations
   Congenital malformations of the musculoskeletal system
   Endocrine and metabolic diseases
   Hypothalamus and pituitary gland diseases
   Parathyroid diseases
   Adrenal gland diseases
   Musculoskeletal diseases
   Skeletal diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003924 [GTPase activity]
GO:0007186 [G protein-coupled receptor signaling pathway]
GO:0019001 [guanyl nucleotide binding]
GO:0031683 [G-protein beta/gamma-subunit complex binding]
Show all
720 aa
74.3 kDa
No 0
GNAS-214
ENSP00000360141
ENST00000371100
Q5JWF2 [Direct mapping]
Guanine nucleotide-binding protein G(s) subunit alpha isoforms XLas
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Cancer-related genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Missense Mutations
Disease related genes
Human disease related genes
   Congenital malformations
   Congenital malformations of the musculoskeletal system
   Endocrine and metabolic diseases
   Hypothalamus and pituitary gland diseases
   Parathyroid diseases
   Adrenal gland diseases
   Musculoskeletal diseases
   Skeletal diseases
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000166 [nucleotide binding]
GO:0001501 [skeletal system development]
GO:0001664 [G protein-coupled receptor binding]
GO:0001894 [tissue homeostasis]
GO:0001958 [endochondral ossification]
GO:0003924 [GTPase activity]
GO:0005159 [insulin-like growth factor receptor binding]
GO:0005515 [protein binding]
GO:0005525 [GTP binding]
GO:0005829 [cytosol]
GO:0005834 [heterotrimeric G-protein complex]
GO:0005886 [plasma membrane]
GO:0006112 [energy reserve metabolic process]
GO:0006306 [DNA methylation]
GO:0007165 [signal transduction]
GO:0007186 [G protein-coupled receptor signaling pathway]
GO:0007188 [adenylate cyclase-modulating G protein-coupled receptor signaling pathway]
GO:0007189 [adenylate cyclase-activating G protein-coupled receptor signaling pathway]
GO:0007191 [adenylate cyclase-activating dopamine receptor signaling pathway]
GO:0007606 [sensory perception of chemical stimulus]
GO:0009791 [post-embryonic development]
GO:0010856 [adenylate cyclase activator activity]
GO:0016020 [membrane]
GO:0016324 [apical plasma membrane]
GO:0019001 [guanyl nucleotide binding]
GO:0030425 [dendrite]
GO:0031683 [G-protein beta/gamma-subunit complex binding]
GO:0031698 [beta-2 adrenergic receptor binding]
GO:0031748 [D1 dopamine receptor binding]
GO:0031852 [mu-type opioid receptor binding]
GO:0035116 [embryonic hindlimb morphogenesis]
GO:0035255 [ionotropic glutamate receptor binding]
GO:0035264 [multicellular organism growth]
GO:0040032 [post-embryonic body morphogenesis]
GO:0042493 [response to drug]
GO:0043588 [skin development]
GO:0045669 [positive regulation of osteoblast differentiation]
GO:0045672 [positive regulation of osteoclast differentiation]
GO:0046872 [metal ion binding]
GO:0048589 [developmental growth]
GO:0048701 [embryonic cranial skeleton morphogenesis]
GO:0050790 [regulation of catalytic activity]
GO:0051216 [cartilage development]
GO:0051430 [corticotropin-releasing hormone receptor 1 binding]
GO:0060348 [bone development]
GO:0070062 [extracellular exosome]
GO:0070527 [platelet aggregation]
GO:0071514 [genetic imprinting]
GO:0120162 [positive regulation of cold-induced thermogenesis]
GO:2000828 [regulation of parathyroid hormone secretion]
Show all
1037 aa
111 kDa
No 0
GNAS-215
ENSP00000360143
ENST00000371102
Q5JWF2 [Direct mapping]
Guanine nucleotide-binding protein G(s) subunit alpha isoforms XLas
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Cancer-related genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Missense Mutations
Disease related genes
Human disease related genes
   Congenital malformations
   Congenital malformations of the musculoskeletal system
   Endocrine and metabolic diseases
   Hypothalamus and pituitary gland diseases
   Parathyroid diseases
   Adrenal gland diseases
   Musculoskeletal diseases
   Skeletal diseases
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000166 [nucleotide binding]
GO:0001664 [G protein-coupled receptor binding]
GO:0003924 [GTPase activity]
GO:0005159 [insulin-like growth factor receptor binding]
GO:0005515 [protein binding]
GO:0005525 [GTP binding]
GO:0005829 [cytosol]
GO:0005834 [heterotrimeric G-protein complex]
GO:0005886 [plasma membrane]
GO:0007165 [signal transduction]
GO:0007186 [G protein-coupled receptor signaling pathway]
GO:0007188 [adenylate cyclase-modulating G protein-coupled receptor signaling pathway]
GO:0007189 [adenylate cyclase-activating G protein-coupled receptor signaling pathway]
GO:0007191 [adenylate cyclase-activating dopamine receptor signaling pathway]
GO:0007606 [sensory perception of chemical stimulus]
GO:0010856 [adenylate cyclase activator activity]
GO:0016020 [membrane]
GO:0016324 [apical plasma membrane]
GO:0019001 [guanyl nucleotide binding]
GO:0031683 [G-protein beta/gamma-subunit complex binding]
GO:0031698 [beta-2 adrenergic receptor binding]
GO:0031748 [D1 dopamine receptor binding]
GO:0031852 [mu-type opioid receptor binding]
GO:0035255 [ionotropic glutamate receptor binding]
GO:0046872 [metal ion binding]
GO:0048589 [developmental growth]
GO:0050790 [regulation of catalytic activity]
GO:0051430 [corticotropin-releasing hormone receptor 1 binding]
GO:0060348 [bone development]
GO:0070062 [extracellular exosome]
GO:0070527 [platelet aggregation]
GO:0120162 [positive regulation of cold-induced thermogenesis]
Show all
1023 aa
109.6 kDa
No 0
GNAS-216
ENSP00000416234
ENST00000419558
H0Y7Z6 [Direct mapping]
Guanine nucleotide-binding protein G(s) subunit alpha isoforms short
Show all
   THUMBUP predicted membrane proteins
   Secreted proteins predicted by MDSEC
   Phobius predicted secreted proteins
   SPOCTOPUS predicted secreted proteins
Predicted intracellular proteins
Cancer-related genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Missense Mutations
Human disease related genes
   Congenital malformations
   Congenital malformations of the musculoskeletal system
   Endocrine and metabolic diseases
   Hypothalamus and pituitary gland diseases
   Parathyroid diseases
   Adrenal gland diseases
   Musculoskeletal diseases
   Skeletal diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0071107 [response to parathyroid hormone]
Show all
245 aa
28 kDa
Yes 0
GNAS-217
ENSP00000412356
ENST00000423897
H0Y7E8 [Direct mapping]
Guanine nucleotide-binding protein G(s) subunit alpha isoforms short
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Cancer-related genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Missense Mutations
Human disease related genes
   Congenital malformations
   Congenital malformations of the musculoskeletal system
   Endocrine and metabolic diseases
   Hypothalamus and pituitary gland diseases
   Parathyroid diseases
   Adrenal gland diseases
   Musculoskeletal diseases
   Skeletal diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003924 [GTPase activity]
GO:0007186 [G protein-coupled receptor signaling pathway]
GO:0019001 [guanyl nucleotide binding]
GO:0031683 [G-protein beta/gamma-subunit complex binding]
Show all
730 aa
75 kDa
No 0
GNAS-218
ENSP00000392000
ENST00000453292
A2A2S1 [Direct mapping]
Guanine nucleotide-binding protein G(s) subunit alpha isoforms short
Show all
   THUMBUP predicted membrane proteins
   Secreted proteins predicted by MDSEC
   Phobius predicted secreted proteins
   SPOCTOPUS predicted secreted proteins
Predicted intracellular proteins
Cancer-related genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Missense Mutations
Human disease related genes
   Congenital malformations
   Congenital malformations of the musculoskeletal system
   Endocrine and metabolic diseases
   Hypothalamus and pituitary gland diseases
   Parathyroid diseases
   Adrenal gland diseases
   Musculoskeletal diseases
   Skeletal diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0071107 [response to parathyroid hormone]
Show all
245 aa
28 kDa
Yes 0
GNAS-219
ENSP00000499274
ENST00000461152
A0A590UJ46 [Direct mapping]
Guanine nucleotide-binding protein G(s) subunit alpha isoforms short
Show all
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   2TM proteins predicted by MDM
Cancer-related genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Missense Mutations
Human disease related genes
   Congenital malformations
   Congenital malformations of the musculoskeletal system
   Endocrine and metabolic diseases
   Hypothalamus and pituitary gland diseases
   Parathyroid diseases
   Adrenal gland diseases
   Musculoskeletal diseases
   Skeletal diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0016020 [membrane]
GO:0016021 [integral component of membrane]
Show all
285 aa
30.9 kDa
No 2
GNAS-220
ENSP00000499758
ENST00000462499
A0A590UKA1 [Direct mapping]
Guanine nucleotide-binding protein G(s) subunit alpha isoforms short
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Cancer-related genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Missense Mutations
Human disease related genes
   Congenital malformations
   Congenital malformations of the musculoskeletal system
   Endocrine and metabolic diseases
   Hypothalamus and pituitary gland diseases
   Parathyroid diseases
   Adrenal gland diseases
   Musculoskeletal diseases
   Skeletal diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003924 [GTPase activity]
GO:0005525 [GTP binding]
GO:0007165 [signal transduction]
GO:0007186 [G protein-coupled receptor signaling pathway]
GO:0019001 [guanyl nucleotide binding]
GO:0031683 [G-protein beta/gamma-subunit complex binding]
Show all
65 aa
7.2 kDa
No 0
GNAS-222
ENSP00000499239
ENST00000464788
A0A590UJ22 [Direct mapping]
Guanine nucleotide-binding protein G(s) subunit alpha isoforms short
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Cancer-related genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Missense Mutations
Human disease related genes
   Congenital malformations
   Congenital malformations of the musculoskeletal system
   Endocrine and metabolic diseases
   Hypothalamus and pituitary gland diseases
   Parathyroid diseases
   Adrenal gland diseases
   Musculoskeletal diseases
   Skeletal diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003924 [GTPase activity]
GO:0005525 [GTP binding]
GO:0007165 [signal transduction]
GO:0007186 [G protein-coupled receptor signaling pathway]
GO:0019001 [guanyl nucleotide binding]
GO:0031683 [G-protein beta/gamma-subunit complex binding]
Show all
159 aa
18.1 kDa
No 0
GNAS-223
ENSP00000499613
ENST00000464960
A0A590UJX3 [Direct mapping]
Guanine nucleotide-binding protein G(s) subunit alpha isoforms short
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Cancer-related genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Missense Mutations
Human disease related genes
   Congenital malformations
   Congenital malformations of the musculoskeletal system
   Endocrine and metabolic diseases
   Hypothalamus and pituitary gland diseases
   Parathyroid diseases
   Adrenal gland diseases
   Musculoskeletal diseases
   Skeletal diseases
Protein evidence (Ezkurdia et al 2014)
Show all
28 aa
3 kDa
No 0
GNAS-224
ENSP00000499681
ENST00000467227
A0A590UK28 [Direct mapping]
Guanine nucleotide-binding protein G(s) subunit alpha isoforms short
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Cancer-related genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Missense Mutations
Human disease related genes
   Congenital malformations
   Congenital malformations of the musculoskeletal system
   Endocrine and metabolic diseases
   Hypothalamus and pituitary gland diseases
   Parathyroid diseases
   Adrenal gland diseases
   Musculoskeletal diseases
   Skeletal diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003924 [GTPase activity]
GO:0005525 [GTP binding]
GO:0007165 [signal transduction]
GO:0007186 [G protein-coupled receptor signaling pathway]
GO:0019001 [guanyl nucleotide binding]
GO:0031683 [G-protein beta/gamma-subunit complex binding]
Show all
127 aa
14.6 kDa
No 0
GNAS-225
ENSP00000499523
ENST00000467321
A0A590UJQ2 [Direct mapping]
Guanine nucleotide-binding protein G(s) subunit alpha isoforms short
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Cancer-related genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Missense Mutations
Human disease related genes
   Congenital malformations
   Congenital malformations of the musculoskeletal system
   Endocrine and metabolic diseases
   Hypothalamus and pituitary gland diseases
   Parathyroid diseases
   Adrenal gland diseases
   Musculoskeletal diseases
   Skeletal diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003924 [GTPase activity]
GO:0005525 [GTP binding]
GO:0007165 [signal transduction]
GO:0007186 [G protein-coupled receptor signaling pathway]
GO:0019001 [guanyl nucleotide binding]
GO:0031683 [G-protein beta/gamma-subunit complex binding]
Show all
180 aa
20.8 kDa
No 0
GNAS-226
ENSP00000499551
ENST00000468895
A0A590UJS2 [Direct mapping]
Guanine nucleotide-binding protein G(s) subunit alpha isoforms short
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Cancer-related genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Missense Mutations
Human disease related genes
   Congenital malformations
   Congenital malformations of the musculoskeletal system
   Endocrine and metabolic diseases
   Hypothalamus and pituitary gland diseases
   Parathyroid diseases
   Adrenal gland diseases
   Musculoskeletal diseases
   Skeletal diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003924 [GTPase activity]
GO:0005525 [GTP binding]
GO:0007165 [signal transduction]
GO:0007186 [G protein-coupled receptor signaling pathway]
GO:0019001 [guanyl nucleotide binding]
GO:0031683 [G-protein beta/gamma-subunit complex binding]
Show all
165 aa
19.2 kDa
No 0
GNAS-227
ENSP00000499654
ENST00000469431
A0A590UJY8 [Direct mapping]
Guanine nucleotide-binding protein G(s) subunit alpha isoforms short
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Cancer-related genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Missense Mutations
Human disease related genes
   Congenital malformations
   Congenital malformations of the musculoskeletal system
   Endocrine and metabolic diseases
   Hypothalamus and pituitary gland diseases
   Parathyroid diseases
   Adrenal gland diseases
   Musculoskeletal diseases
   Skeletal diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003924 [GTPase activity]
GO:0005525 [GTP binding]
GO:0007165 [signal transduction]
GO:0007186 [G protein-coupled receptor signaling pathway]
GO:0019001 [guanyl nucleotide binding]
GO:0031683 [G-protein beta/gamma-subunit complex binding]
Show all
136 aa
15.4 kDa
No 0
GNAS-228
ENSP00000499552
ENST00000470512
A0A590UJQ9 [Direct mapping]
Guanine nucleotide-binding protein G(s) subunit alpha isoforms short
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Cancer-related genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Missense Mutations
Human disease related genes
   Congenital malformations
   Congenital malformations of the musculoskeletal system
   Endocrine and metabolic diseases
   Hypothalamus and pituitary gland diseases
   Parathyroid diseases
   Adrenal gland diseases
   Musculoskeletal diseases
   Skeletal diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003924 [GTPase activity]
GO:0005525 [GTP binding]
GO:0007165 [signal transduction]
GO:0007186 [G protein-coupled receptor signaling pathway]
GO:0019001 [guanyl nucleotide binding]
GO:0031683 [G-protein beta/gamma-subunit complex binding]
Show all
221 aa
25.4 kDa
No 0
GNAS-229
ENSP00000499673
ENST00000472183
S4R3E3 [Direct mapping]
Guanine nucleotide-binding protein G(s) subunit alpha isoforms short
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Cancer-related genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Missense Mutations
Human disease related genes
   Congenital malformations
   Congenital malformations of the musculoskeletal system
   Endocrine and metabolic diseases
   Hypothalamus and pituitary gland diseases
   Parathyroid diseases
   Adrenal gland diseases
   Musculoskeletal diseases
   Skeletal diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003924 [GTPase activity]
GO:0005525 [GTP binding]
GO:0007165 [signal transduction]
GO:0007186 [G protein-coupled receptor signaling pathway]
GO:0019001 [guanyl nucleotide binding]
GO:0031683 [G-protein beta/gamma-subunit complex binding]
Show all
160 aa
18.3 kDa
No 0
GNAS-232
ENSP00000499409
ENST00000476935
A0A590UJG5 [Direct mapping]
Guanine nucleotide-binding protein G(s) subunit alpha isoforms short
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Cancer-related genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Missense Mutations
Human disease related genes
   Congenital malformations
   Congenital malformations of the musculoskeletal system
   Endocrine and metabolic diseases
   Hypothalamus and pituitary gland diseases
   Parathyroid diseases
   Adrenal gland diseases
   Musculoskeletal diseases
   Skeletal diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003924 [GTPase activity]
GO:0005525 [GTP binding]
GO:0007165 [signal transduction]
GO:0007186 [G protein-coupled receptor signaling pathway]
GO:0019001 [guanyl nucleotide binding]
GO:0031683 [G-protein beta/gamma-subunit complex binding]
Show all
205 aa
23.9 kDa
No 0
GNAS-233
ENSP00000499660
ENST00000477931
B0AZR9 [Direct mapping]
GNAS complex locus, isoform CRA_b; Guanine nucleotide-binding protein G(s) subunit alpha isoforms short; cDNA, FLJ79509, highly similar to Guanine nucleotide-binding protein G(s)subunit alpha; cDNA, FLJ79523, highly similar to Guanine nucleotide-binding protein G(s)subunit alpha
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Cancer-related genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Missense Mutations
Human disease related genes
   Congenital malformations
   Congenital malformations of the musculoskeletal system
   Endocrine and metabolic diseases
   Hypothalamus and pituitary gland diseases
   Parathyroid diseases
   Adrenal gland diseases
   Musculoskeletal diseases
   Skeletal diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003924 [GTPase activity]
GO:0005525 [GTP binding]
GO:0007165 [signal transduction]
GO:0007186 [G protein-coupled receptor signaling pathway]
GO:0019001 [guanyl nucleotide binding]
GO:0031683 [G-protein beta/gamma-subunit complex binding]
Show all
335 aa
39 kDa
No 0
GNAS-234
ENSP00000499762
ENST00000478585
A0A590UKA9 [Direct mapping]
Guanine nucleotide-binding protein G(s) subunit alpha isoforms short
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Cancer-related genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Missense Mutations
Human disease related genes
   Congenital malformations
   Congenital malformations of the musculoskeletal system
   Endocrine and metabolic diseases
   Hypothalamus and pituitary gland diseases
   Parathyroid diseases
   Adrenal gland diseases
   Musculoskeletal diseases
   Skeletal diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003924 [GTPase activity]
GO:0005525 [GTP binding]
GO:0007165 [signal transduction]
GO:0007186 [G protein-coupled receptor signaling pathway]
GO:0019001 [guanyl nucleotide binding]
GO:0031683 [G-protein beta/gamma-subunit complex binding]
Show all
103 aa
11.8 kDa
No 0
GNAS-236
ENSP00000499545
ENST00000480232
A0A590UJR6 [Direct mapping]
Guanine nucleotide-binding protein G(s) subunit alpha isoforms short
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Cancer-related genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Missense Mutations
Human disease related genes
   Congenital malformations
   Congenital malformations of the musculoskeletal system
   Endocrine and metabolic diseases
   Hypothalamus and pituitary gland diseases
   Parathyroid diseases
   Adrenal gland diseases
   Musculoskeletal diseases
   Skeletal diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003924 [GTPase activity]
GO:0005525 [GTP binding]
GO:0007165 [signal transduction]
GO:0007186 [G protein-coupled receptor signaling pathway]
GO:0019001 [guanyl nucleotide binding]
GO:0031683 [G-protein beta/gamma-subunit complex binding]
Show all
233 aa
26.9 kDa
No 0
GNAS-237
ENSP00000499392
ENST00000480975
A0A590UJF0 [Direct mapping]
Guanine nucleotide-binding protein G(s) subunit alpha isoforms short
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Cancer-related genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Missense Mutations
Human disease related genes
   Congenital malformations
   Congenital malformations of the musculoskeletal system
   Endocrine and metabolic diseases
   Hypothalamus and pituitary gland diseases
   Parathyroid diseases
   Adrenal gland diseases
   Musculoskeletal diseases
   Skeletal diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003924 [GTPase activity]
GO:0005525 [GTP binding]
GO:0007165 [signal transduction]
GO:0007186 [G protein-coupled receptor signaling pathway]
GO:0019001 [guanyl nucleotide binding]
GO:0031683 [G-protein beta/gamma-subunit complex binding]
Show all
320 aa
37.5 kDa
No 0
GNAS-238
ENSP00000499767
ENST00000481039
A0A590UKB4 [Direct mapping]
Guanine nucleotide-binding protein G(s) subunit alpha isoforms short
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Cancer-related genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Missense Mutations
Human disease related genes
   Congenital malformations
   Congenital malformations of the musculoskeletal system
   Endocrine and metabolic diseases
   Hypothalamus and pituitary gland diseases
   Parathyroid diseases
   Adrenal gland diseases
   Musculoskeletal diseases
   Skeletal diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003924 [GTPase activity]
GO:0005525 [GTP binding]
GO:0007165 [signal transduction]
GO:0007186 [G protein-coupled receptor signaling pathway]
GO:0019001 [guanyl nucleotide binding]
GO:0031683 [G-protein beta/gamma-subunit complex binding]
Show all
220 aa
25.4 kDa
No 0
GNAS-240
ENSP00000499794
ENST00000482112
A0A590UKA4 [Direct mapping]
Guanine nucleotide-binding protein G(s) subunit alpha isoforms short
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Cancer-related genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Missense Mutations
Human disease related genes
   Congenital malformations
   Congenital malformations of the musculoskeletal system
   Endocrine and metabolic diseases
   Hypothalamus and pituitary gland diseases
   Parathyroid diseases
   Adrenal gland diseases
   Musculoskeletal diseases
   Skeletal diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003924 [GTPase activity]
GO:0005525 [GTP binding]
GO:0007165 [signal transduction]
GO:0007186 [G protein-coupled receptor signaling pathway]
GO:0019001 [guanyl nucleotide binding]
GO:0031683 [G-protein beta/gamma-subunit complex binding]
Show all
136 aa
15.7 kDa
No 0
GNAS-242
ENSP00000499259
ENST00000484504
A0A590UJ47 [Direct mapping]
Guanine nucleotide-binding protein G(s) subunit alpha isoforms short
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Cancer-related genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Missense Mutations
Human disease related genes
   Congenital malformations
   Congenital malformations of the musculoskeletal system
   Endocrine and metabolic diseases
   Hypothalamus and pituitary gland diseases
   Parathyroid diseases
   Adrenal gland diseases
   Musculoskeletal diseases
   Skeletal diseases
Protein evidence (Ezkurdia et al 2014)
Show all
13 aa
1.5 kDa
No 0
GNAS-243
ENSP00000499334
ENST00000485673
A0A590UJA5 [Direct mapping]
Guanine nucleotide-binding protein G(s) subunit alpha isoforms short
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Cancer-related genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Missense Mutations
Human disease related genes
   Congenital malformations
   Congenital malformations of the musculoskeletal system
   Endocrine and metabolic diseases
   Hypothalamus and pituitary gland diseases
   Parathyroid diseases
   Adrenal gland diseases
   Musculoskeletal diseases
   Skeletal diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003924 [GTPase activity]
GO:0005525 [GTP binding]
GO:0007165 [signal transduction]
GO:0007186 [G protein-coupled receptor signaling pathway]
GO:0019001 [guanyl nucleotide binding]
GO:0031683 [G-protein beta/gamma-subunit complex binding]
Show all
83 aa
9.5 kDa
No 0
GNAS-246
ENSP00000499332
ENST00000488546
A0A590UJB0 [Direct mapping]
Guanine nucleotide-binding protein G(s) subunit alpha isoforms short
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Cancer-related genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Missense Mutations
Human disease related genes
   Congenital malformations
   Congenital malformations of the musculoskeletal system
   Endocrine and metabolic diseases
   Hypothalamus and pituitary gland diseases
   Parathyroid diseases
   Adrenal gland diseases
   Musculoskeletal diseases
   Skeletal diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003924 [GTPase activity]
GO:0005525 [GTP binding]
GO:0007165 [signal transduction]
GO:0007186 [G protein-coupled receptor signaling pathway]
GO:0019001 [guanyl nucleotide binding]
GO:0031683 [G-protein beta/gamma-subunit complex binding]
Show all
273 aa
31.8 kDa
No 0
GNAS-247
ENSP00000499435
ENST00000488652
A0A590UJI6 [Direct mapping]
Guanine nucleotide-binding protein G(s) subunit alpha isoforms short
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Cancer-related genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Missense Mutations
Human disease related genes
   Congenital malformations
   Congenital malformations of the musculoskeletal system
   Endocrine and metabolic diseases
   Hypothalamus and pituitary gland diseases
   Parathyroid diseases
   Adrenal gland diseases
   Musculoskeletal diseases
   Skeletal diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003924 [GTPase activity]
GO:0005525 [GTP binding]
GO:0007165 [signal transduction]
GO:0007186 [G protein-coupled receptor signaling pathway]
GO:0019001 [guanyl nucleotide binding]
GO:0031683 [G-protein beta/gamma-subunit complex binding]
Show all
228 aa
26.4 kDa
No 0
GNAS-249
ENSP00000499272
ENST00000491348
A0A590UJ47 [Direct mapping]
Guanine nucleotide-binding protein G(s) subunit alpha isoforms short
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Cancer-related genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Missense Mutations
Human disease related genes
   Congenital malformations
   Congenital malformations of the musculoskeletal system
   Endocrine and metabolic diseases
   Hypothalamus and pituitary gland diseases
   Parathyroid diseases
   Adrenal gland diseases
   Musculoskeletal diseases
   Skeletal diseases
Protein evidence (Ezkurdia et al 2014)
Show all
13 aa
1.5 kDa
No 0
GNAS-250
ENSP00000499443
ENST00000492907
A0A590UJJ0 [Direct mapping]
Guanine nucleotide-binding protein G(s) subunit alpha isoforms short
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Cancer-related genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Missense Mutations
Human disease related genes
   Congenital malformations
   Congenital malformations of the musculoskeletal system
   Endocrine and metabolic diseases
   Hypothalamus and pituitary gland diseases
   Parathyroid diseases
   Adrenal gland diseases
   Musculoskeletal diseases
   Skeletal diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003924 [GTPase activity]
GO:0005525 [GTP binding]
GO:0007165 [signal transduction]
GO:0007186 [G protein-coupled receptor signaling pathway]
GO:0019001 [guanyl nucleotide binding]
GO:0031683 [G-protein beta/gamma-subunit complex binding]
Show all
206 aa
24 kDa
No 0
GNAS-251
ENSP00000499376
ENST00000493744
A0A590UJX3 [Direct mapping]
Guanine nucleotide-binding protein G(s) subunit alpha isoforms short
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Cancer-related genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Missense Mutations
Human disease related genes
   Congenital malformations
   Congenital malformations of the musculoskeletal system
   Endocrine and metabolic diseases
   Hypothalamus and pituitary gland diseases
   Parathyroid diseases
   Adrenal gland diseases
   Musculoskeletal diseases
   Skeletal diseases
Protein evidence (Ezkurdia et al 2014)
Show all
28 aa
3 kDa
No 0
GNAS-255
ENSP00000474802
ENST00000603546
S4R3V9 [Direct mapping]
Guanine nucleotide-binding protein G(s) subunit alpha isoforms short
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Cancer-related genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Missense Mutations
Human disease related genes
   Congenital malformations
   Congenital malformations of the musculoskeletal system
   Endocrine and metabolic diseases
   Hypothalamus and pituitary gland diseases
   Parathyroid diseases
   Adrenal gland diseases
   Musculoskeletal diseases
   Skeletal diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003924 [GTPase activity]
GO:0005525 [GTP binding]
GO:0007165 [signal transduction]
GO:0007186 [G protein-coupled receptor signaling pathway]
GO:0019001 [guanyl nucleotide binding]
GO:0031683 [G-protein beta/gamma-subunit complex binding]
Show all
120 aa
13.6 kDa
No 0
GNAS-256
ENSP00000474219
ENST00000604005
S4R3E3 [Direct mapping]
Guanine nucleotide-binding protein G(s) subunit alpha isoforms short
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Cancer-related genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Missense Mutations
Human disease related genes
   Congenital malformations
   Congenital malformations of the musculoskeletal system
   Endocrine and metabolic diseases
   Hypothalamus and pituitary gland diseases
   Parathyroid diseases
   Adrenal gland diseases
   Musculoskeletal diseases
   Skeletal diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003924 [GTPase activity]
GO:0005525 [GTP binding]
GO:0007165 [signal transduction]
GO:0007186 [G protein-coupled receptor signaling pathway]
GO:0019001 [guanyl nucleotide binding]
GO:0031683 [G-protein beta/gamma-subunit complex binding]
Show all
160 aa
18.3 kDa
No 0
GNAS-257
ENSP00000499614
ENST00000656419
A0A590UJY2 [Direct mapping]
Guanine nucleotide-binding protein G(s) subunit alpha isoforms short
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Cancer-related genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Missense Mutations
Human disease related genes
   Congenital malformations
   Congenital malformations of the musculoskeletal system
   Endocrine and metabolic diseases
   Hypothalamus and pituitary gland diseases
   Parathyroid diseases
   Adrenal gland diseases
   Musculoskeletal diseases
   Skeletal diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003924 [GTPase activity]
GO:0005525 [GTP binding]
GO:0007165 [signal transduction]
GO:0007186 [G protein-coupled receptor signaling pathway]
GO:0019001 [guanyl nucleotide binding]
GO:0031683 [G-protein beta/gamma-subunit complex binding]
Show all
237 aa
27.9 kDa
No 0
GNAS-258
ENSP00000499380
ENST00000657090
B0AZR9 [Direct mapping]
GNAS complex locus, isoform CRA_b; Guanine nucleotide-binding protein G(s) subunit alpha isoforms short; cDNA, FLJ79509, highly similar to Guanine nucleotide-binding protein G(s)subunit alpha; cDNA, FLJ79523, highly similar to Guanine nucleotide-binding protein G(s)subunit alpha
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Cancer-related genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Missense Mutations
Human disease related genes
   Congenital malformations
   Congenital malformations of the musculoskeletal system
   Endocrine and metabolic diseases
   Hypothalamus and pituitary gland diseases
   Parathyroid diseases
   Adrenal gland diseases
   Musculoskeletal diseases
   Skeletal diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003924 [GTPase activity]
GO:0005525 [GTP binding]
GO:0007165 [signal transduction]
GO:0007186 [G protein-coupled receptor signaling pathway]
GO:0019001 [guanyl nucleotide binding]
GO:0031683 [G-protein beta/gamma-subunit complex binding]
Show all
335 aa
39 kDa
No 0
GNAS-259
ENSP00000499353
ENST00000663479
A0A590UJB7 [Direct mapping]
Guanine nucleotide-binding protein G(s) subunit alpha isoforms short
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Cancer-related genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Missense Mutations
Human disease related genes
   Congenital malformations
   Congenital malformations of the musculoskeletal system
   Endocrine and metabolic diseases
   Hypothalamus and pituitary gland diseases
   Parathyroid diseases
   Adrenal gland diseases
   Musculoskeletal diseases
   Skeletal diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003924 [GTPase activity]
GO:0005525 [GTP binding]
GO:0007165 [signal transduction]
GO:0007186 [G protein-coupled receptor signaling pathway]
GO:0019001 [guanyl nucleotide binding]
GO:0031683 [G-protein beta/gamma-subunit complex binding]
Show all
127 aa
14.4 kDa
No 0
GNAS-260
ENSP00000499293
ENST00000667293
A0A590UJ58 [Direct mapping]
Guanine nucleotide-binding protein G(s) subunit alpha isoforms short
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Cancer-related genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Missense Mutations
Human disease related genes
   Congenital malformations
   Congenital malformations of the musculoskeletal system
   Endocrine and metabolic diseases
   Hypothalamus and pituitary gland diseases
   Parathyroid diseases
   Adrenal gland diseases
   Musculoskeletal diseases
   Skeletal diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003924 [GTPase activity]
GO:0005525 [GTP binding]
GO:0007165 [signal transduction]
GO:0007186 [G protein-coupled receptor signaling pathway]
GO:0019001 [guanyl nucleotide binding]
GO:0031683 [G-protein beta/gamma-subunit complex binding]
Show all
351 aa
40.6 kDa
No 0
GNAS-261
ENSP00000504675
ENST00000676826
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Cancer-related genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Missense Mutations
Human disease related genes
   Congenital malformations
   Congenital malformations of the musculoskeletal system
   Endocrine and metabolic diseases
   Hypothalamus and pituitary gland diseases
   Parathyroid diseases
   Adrenal gland diseases
   Musculoskeletal diseases
   Skeletal diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003924 [GTPase activity]
GO:0005525 [GTP binding]
GO:0007165 [signal transduction]
GO:0007186 [G protein-coupled receptor signaling pathway]
GO:0019001 [guanyl nucleotide binding]
GO:0031683 [G-protein beta/gamma-subunit complex binding]
Show all
820 aa
85.3 kDa
No 0

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The Human Protein Atlas project is funded
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