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ALS2
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  • TISSUE

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  • ALS2
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.

ALS2
Synonyms ALS2CR6
Gene descriptioni

Full gene name according to HGNC.

Alsin Rho guanine nucleotide exchange factor ALS2
Protein classi

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

Read more
Disease related genes
Human disease related genes
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
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 2
Cytoband q33.1
Chromosome location (bp) 201700267 - 201782112
Number of transcriptsi

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

25
Ensembl ENSG00000003393 (version 103.38)
Entrez gene 57679
HGNC HGNC:443
UniProt Q96Q42 (UniProt - Evidence at protein level)
neXtProt NX_Q96Q42
Antibodypedia ALS2 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: 3      # Population variants: 827

Antigens:

Off
On

Variants:

Off
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.
«
ALS2-201
ALS2-202
ALS2-203
ALS2-206
ALS2-217
ALS2-218
ALS2-220
ALS2-226
ALS2-228
ALS2-229
ALS2-230
ALS2-233
ALS2-235
ALS2-237
ALS2-240
ALS2-250
ALS2-251
ALS2-254
ALS2-258
ALS2-262
ALS2-264
ALS2-267
ALS2-268
ALS2-269
ALS2-275
»


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)
ALS2-201
ENSP00000264276
ENST00000264276
Q96Q42 [Target identity:100%; Query identity:100%]
Alsin
Show all
   MEMSAT3 predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Disease related genes
Human disease related genes
   Nervous system diseases
   Neurodegenerative diseases
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0001726 [ruffle]
GO:0005085 [guanyl-nucleotide exchange factor activity]
GO:0005096 [GTPase activator activity]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005769 [early endosome]
GO:0005813 [centrosome]
GO:0005829 [cytosol]
GO:0007032 [endosome organization]
GO:0007041 [lysosomal transport]
GO:0030027 [lamellipodium]
GO:0030425 [dendrite]
GO:0030426 [growth cone]
GO:0031267 [small GTPase binding]
GO:0031982 [vesicle]
GO:0032991 [protein-containing complex]
GO:0035022 [positive regulation of Rac protein signal transduction]
GO:0042802 [identical protein binding]
GO:0042803 [protein homodimerization activity]
GO:0043539 [protein serine/threonine kinase activator activity]
GO:0043547 [positive regulation of GTPase activity]
GO:0045860 [positive regulation of protein kinase activity]
GO:0048812 [neuron projection morphogenesis]
GO:0051036 [regulation of endosome size]
GO:0051260 [protein homooligomerization]
GO:0071902 [positive regulation of protein serine/threonine kinase activity]
Show all
1657 aa
183.6 kDa
No 0
ALS2-202
ENSP00000386384
ENST00000409632
J3KQ33 [Direct mapping]
Alsin
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Nervous system diseases
   Neurodegenerative diseases
Protein evidence (Ezkurdia et al 2014)
Show all
396 aa
42.6 kDa
No 0
ALS2-203
ENSP00000386948
ENST00000410052
J3KQ43 [Direct mapping]
Alsin
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Nervous system diseases
   Neurodegenerative diseases
Protein evidence (Ezkurdia et al 2014)
Show all
106 aa
11.2 kDa
No 0
ALS2-206
ENSP00000429223
ENST00000467448
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Nervous system diseases
   Neurodegenerative diseases
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
396 aa
42.6 kDa
No 0
ALS2-217
ENSP00000505968
ENST00000679503
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Nervous system diseases
   Neurodegenerative diseases
Protein evidence (Ezkurdia et al 2014)
Show all
396 aa
42.6 kDa
No 0
ALS2-218
ENSP00000505187
ENST00000679516
Q96Q42 [Target identity:100%; Query identity:100%]
Alsin
Show all
   MEMSAT3 predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Disease related genes
Human disease related genes
   Nervous system diseases
   Neurodegenerative diseases
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0001726 [ruffle]
GO:0005085 [guanyl-nucleotide exchange factor activity]
GO:0005096 [GTPase activator activity]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005769 [early endosome]
GO:0005813 [centrosome]
GO:0005829 [cytosol]
GO:0007032 [endosome organization]
GO:0007041 [lysosomal transport]
GO:0030027 [lamellipodium]
GO:0030425 [dendrite]
GO:0030426 [growth cone]
GO:0031267 [small GTPase binding]
GO:0031982 [vesicle]
GO:0032991 [protein-containing complex]
GO:0035022 [positive regulation of Rac protein signal transduction]
GO:0042802 [identical protein binding]
GO:0042803 [protein homodimerization activity]
GO:0043539 [protein serine/threonine kinase activator activity]
GO:0043547 [positive regulation of GTPase activity]
GO:0045860 [positive regulation of protein kinase activity]
GO:0048812 [neuron projection morphogenesis]
GO:0051036 [regulation of endosome size]
GO:0051260 [protein homooligomerization]
GO:0071902 [positive regulation of protein serine/threonine kinase activity]
Show all
1657 aa
183.6 kDa
No 0
ALS2-220
ENSP00000506193
ENST00000679550
A0A0S2Z5Q7 [Target identity:100%; Query identity:100%]
Amyotrophic lateral sclerosis 2 isoform 1
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Nervous system diseases
   Neurodegenerative diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding]
Show all
812 aa
87.4 kDa
No 0
ALS2-226
ENSP00000504981
ENST00000679728
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Nervous system diseases
   Neurodegenerative diseases
Protein evidence (Ezkurdia et al 2014)
Show all
383 aa
40.9 kDa
No 0
ALS2-228
ENSP00000505704
ENST00000679939
A0A0S2Z5Q7 [Target identity:100%; Query identity:100%]
Amyotrophic lateral sclerosis 2 isoform 1
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Nervous system diseases
   Neurodegenerative diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding]
Show all
812 aa
87.4 kDa
No 0
ALS2-229
ENSP00000505232
ENST00000679949
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Nervous system diseases
   Neurodegenerative diseases
Protein evidence (Ezkurdia et al 2014)
Show all
796 aa
85.6 kDa
No 0
ALS2-230
ENSP00000506173
ENST00000680000
   MEMSAT3 predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Nervous system diseases
   Neurodegenerative diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005085 [guanyl-nucleotide exchange factor activity]
Show all
1651 aa
182.7 kDa
No 0
ALS2-233
ENSP00000505092
ENST00000680163
Q96Q42 [Target identity:100%; Query identity:100%]
Alsin
Show all
   MEMSAT3 predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Disease related genes
Human disease related genes
   Nervous system diseases
   Neurodegenerative diseases
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0001726 [ruffle]
GO:0005085 [guanyl-nucleotide exchange factor activity]
GO:0005096 [GTPase activator activity]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005769 [early endosome]
GO:0005813 [centrosome]
GO:0005829 [cytosol]
GO:0007032 [endosome organization]
GO:0007041 [lysosomal transport]
GO:0030027 [lamellipodium]
GO:0030425 [dendrite]
GO:0030426 [growth cone]
GO:0031267 [small GTPase binding]
GO:0031982 [vesicle]
GO:0032991 [protein-containing complex]
GO:0035022 [positive regulation of Rac protein signal transduction]
GO:0042802 [identical protein binding]
GO:0042803 [protein homodimerization activity]
GO:0043539 [protein serine/threonine kinase activator activity]
GO:0043547 [positive regulation of GTPase activity]
GO:0045860 [positive regulation of protein kinase activity]
GO:0048812 [neuron projection morphogenesis]
GO:0051036 [regulation of endosome size]
GO:0051260 [protein homooligomerization]
GO:0071902 [positive regulation of protein serine/threonine kinase activity]
Show all
1657 aa
183.6 kDa
No 0
ALS2-235
ENSP00000505665
ENST00000680188
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Nervous system diseases
   Neurodegenerative diseases
Protein evidence (Ezkurdia et al 2014)
Show all
396 aa
42.6 kDa
No 0
ALS2-237
ENSP00000506547
ENST00000680287
A0A0S2Z5Q7 [Target identity:100%; Query identity:100%]
Amyotrophic lateral sclerosis 2 isoform 1
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Nervous system diseases
   Neurodegenerative diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding]
Show all
812 aa
87.4 kDa
No 0
ALS2-240
ENSP00000505954
ENST00000680497
   MEMSAT3 predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Nervous system diseases
   Neurodegenerative diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0001662 [behavioral fear response]
GO:0001701 [in utero embryonic development]
GO:0001726 [ruffle]
GO:0001881 [receptor recycling]
GO:0005085 [guanyl-nucleotide exchange factor activity]
GO:0005737 [cytoplasm]
GO:0005813 [centrosome]
GO:0006979 [response to oxidative stress]
GO:0007409 [axonogenesis]
GO:0007528 [neuromuscular junction development]
GO:0007626 [locomotory behavior]
GO:0008104 [protein localization]
GO:0008219 [cell death]
GO:0014069 [postsynaptic density]
GO:0016020 [membrane]
GO:0016050 [vesicle organization]
GO:0016197 [endosomal transport]
GO:0016601 [Rac protein signal transduction]
GO:0030027 [lamellipodium]
GO:0030424 [axon]
GO:0030425 [dendrite]
GO:0030426 [growth cone]
GO:0035249 [synaptic transmission, glutamatergic]
GO:0043005 [neuron projection]
GO:0043025 [neuronal cell body]
GO:0043087 [regulation of GTPase activity]
GO:0043197 [dendritic spine]
GO:0043231 [intracellular membrane-bounded organelle]
Show all
1691 aa
187.5 kDa
No 0
ALS2-250
ENSP00000505848
ENST00000680759
   MEMSAT3 predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Nervous system diseases
   Neurodegenerative diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005085 [guanyl-nucleotide exchange factor activity]
Show all
1601 aa
177.3 kDa
No 0
ALS2-251
ENSP00000505710
ENST00000680814
   MEMSAT3 predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Nervous system diseases
   Neurodegenerative diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005085 [guanyl-nucleotide exchange factor activity]
Show all
1614 aa
178.6 kDa
No 0
ALS2-254
ENSP00000505043
ENST00000680861
Q96Q42 [Target identity:100%; Query identity:100%]
Alsin
Show all
   MEMSAT3 predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Disease related genes
Human disease related genes
   Nervous system diseases
   Neurodegenerative diseases
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0001726 [ruffle]
GO:0005085 [guanyl-nucleotide exchange factor activity]
GO:0005096 [GTPase activator activity]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005769 [early endosome]
GO:0005813 [centrosome]
GO:0005829 [cytosol]
GO:0007032 [endosome organization]
GO:0007041 [lysosomal transport]
GO:0030027 [lamellipodium]
GO:0030425 [dendrite]
GO:0030426 [growth cone]
GO:0031267 [small GTPase binding]
GO:0031982 [vesicle]
GO:0032991 [protein-containing complex]
GO:0035022 [positive regulation of Rac protein signal transduction]
GO:0042802 [identical protein binding]
GO:0042803 [protein homodimerization activity]
GO:0043539 [protein serine/threonine kinase activator activity]
GO:0043547 [positive regulation of GTPase activity]
GO:0045860 [positive regulation of protein kinase activity]
GO:0048812 [neuron projection morphogenesis]
GO:0051036 [regulation of endosome size]
GO:0051260 [protein homooligomerization]
GO:0071902 [positive regulation of protein serine/threonine kinase activity]
Show all
1657 aa
183.6 kDa
No 0
ALS2-258
ENSP00000505388
ENST00000681152
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Nervous system diseases
   Neurodegenerative diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005085 [guanyl-nucleotide exchange factor activity]
Show all
1237 aa
135.7 kDa
No 0
ALS2-262
ENSP00000505576
ENST00000681303
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Nervous system diseases
   Neurodegenerative diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005085 [guanyl-nucleotide exchange factor activity]
Show all
1237 aa
135.7 kDa
No 0
ALS2-264
ENSP00000506656
ENST00000681312
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Nervous system diseases
   Neurodegenerative diseases
Protein evidence (Ezkurdia et al 2014)
Show all
367 aa
39.6 kDa
No 0
ALS2-267
ENSP00000506085
ENST00000681495
   MEMSAT3 predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Nervous system diseases
   Neurodegenerative diseases
Protein evidence (Ezkurdia et al 2014)
Show all
836 aa
95.3 kDa
No 0
ALS2-268
ENSP00000505568
ENST00000681558
   MEMSAT3 predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Nervous system diseases
   Neurodegenerative diseases
Protein evidence (Ezkurdia et al 2014)
Show all
883 aa
100.5 kDa
No 0
ALS2-269
ENSP00000505071
ENST00000681619
   MEMSAT3 predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Nervous system diseases
   Neurodegenerative diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005085 [guanyl-nucleotide exchange factor activity]
Show all
1656 aa
183.4 kDa
No 0
ALS2-275
ENSP00000505219
ENST00000681808
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Nervous system diseases
   Neurodegenerative diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005085 [guanyl-nucleotide exchange factor activity]
Show all
1598 aa
176.8 kDa
No 0

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