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CC2D2A
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  • CC2D2A
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.

CC2D2A
Synonyms JBTS9, KIAA1345, MKS6
Gene descriptioni

Full gene name according to HGNC.

Coiled-coil and C2 domain containing 2A
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 4
Cytoband p15.32
Chromosome location (bp) 15469865 - 15601552
Number of transcriptsi

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

13
Ensembl ENSG00000048342 (version 103.38)
Entrez gene 57545
HGNC HGNC:29253
UniProt Q9P2K1 (UniProt - Evidence at protein level)
neXtProt NX_Q9P2K1
Antibodypedia CC2D2A 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: 34      # Population variants: 969

Antigens:

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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.
«
CC2D2A-201
CC2D2A-202
CC2D2A-203
CC2D2A-204
CC2D2A-205
CC2D2A-206
CC2D2A-210
CC2D2A-213
CC2D2A-214
CC2D2A-215
CC2D2A-218
CC2D2A-219
CC2D2A-220
»


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)
CC2D2A-201
ENSP00000374303
ENST00000389652
A0A140T8Y7 [Direct mapping]
Coiled-coil and C2 domain-containing protein 2A
Show all
   SPOCTOPUS predicted membrane proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Congenital malformations
   Congenital malformations of the nervous system
   Congenital malformations of the urinary system
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0001822 [kidney development]
GO:0001843 [neural tube closure]
GO:0007224 [smoothened signaling pathway]
GO:0007368 [determination of left/right symmetry]
GO:0007507 [heart development]
GO:0035082 [axoneme assembly]
GO:0035869 [ciliary transition zone]
GO:0036038 [MKS complex]
GO:0043010 [camera-type eye development]
GO:0044458 [motile cilium assembly]
GO:0060271 [cilium assembly]
GO:1904491 [protein localization to ciliary transition zone]
GO:1905515 [non-motile cilium assembly]
GO:1990403 [embryonic brain development]
Show all
1632 aa
187.4 kDa
No 0
CC2D2A-202
ENSP00000403465
ENST00000424120
Q9P2K1 [Direct mapping]
Coiled-coil and C2 domain-containing protein 2A
Show all
   SPOCTOPUS predicted membrane proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Disease related genes
Human disease related genes
   Congenital malformations
   Congenital malformations of the nervous system
   Congenital malformations of the urinary system
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005737 [cytoplasm]
GO:0005829 [cytosol]
GO:0005856 [cytoskeleton]
GO:0005929 [cilium]
GO:0007224 [smoothened signaling pathway]
GO:0030030 [cell projection organization]
GO:0035869 [ciliary transition zone]
GO:0036038 [MKS complex]
GO:0042995 [cell projection]
GO:0060271 [cilium assembly]
GO:0097711 [ciliary basal body-plasma membrane docking]
Show all
1620 aa
186.2 kDa
No 0
CC2D2A-203
ENSP00000421809
ENST00000503292
Q9P2K1 [Direct mapping]
Coiled-coil and C2 domain-containing protein 2A
Show all
   SPOCTOPUS predicted membrane proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Disease related genes
Human disease related genes
   Congenital malformations
   Congenital malformations of the nervous system
   Congenital malformations of the urinary system
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005737 [cytoplasm]
GO:0005829 [cytosol]
GO:0005856 [cytoskeleton]
GO:0005929 [cilium]
GO:0007224 [smoothened signaling pathway]
GO:0030030 [cell projection organization]
GO:0035869 [ciliary transition zone]
GO:0036038 [MKS complex]
GO:0042995 [cell projection]
GO:0060271 [cilium assembly]
GO:0097711 [ciliary basal body-plasma membrane docking]
Show all
1620 aa
186.2 kDa
No 0
CC2D2A-204
ENSP00000426846
ENST00000503658
Q9P2K1 [Direct mapping]
Coiled-coil and C2 domain-containing protein 2A
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Disease related genes
Human disease related genes
   Congenital malformations
   Congenital malformations of the nervous system
   Congenital malformations of the urinary system
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005737 [cytoplasm]
GO:0005829 [cytosol]
GO:0005856 [cytoskeleton]
GO:0005929 [cilium]
GO:0007224 [smoothened signaling pathway]
GO:0030030 [cell projection organization]
GO:0035869 [ciliary transition zone]
GO:0036038 [MKS complex]
GO:0042995 [cell projection]
GO:0060271 [cilium assembly]
GO:0097711 [ciliary basal body-plasma membrane docking]
Show all
122 aa
13.6 kDa
No 0
CC2D2A-205
ENSP00000422931
ENST00000506643
H0Y941 [Direct mapping]
Coiled-coil and C2 domain-containing protein 2A
Show all
   SPOCTOPUS predicted membrane proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Congenital malformations
   Congenital malformations of the nervous system
   Congenital malformations of the urinary system
Protein evidence (Ezkurdia et al 2014)
Show all
1571 aa
180.4 kDa
No 0
CC2D2A-206
ENSP00000427221
ENST00000507954
Q9P2K1 [Direct mapping]
Coiled-coil and C2 domain-containing protein 2A
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Disease related genes
Human disease related genes
   Congenital malformations
   Congenital malformations of the nervous system
   Congenital malformations of the urinary system
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005737 [cytoplasm]
GO:0005829 [cytosol]
GO:0005856 [cytoskeleton]
GO:0005929 [cilium]
GO:0007224 [smoothened signaling pathway]
GO:0030030 [cell projection organization]
GO:0035869 [ciliary transition zone]
GO:0036038 [MKS complex]
GO:0042995 [cell projection]
GO:0060271 [cilium assembly]
GO:0097711 [ciliary basal body-plasma membrane docking]
Show all
111 aa
12.6 kDa
No 0
CC2D2A-210
ENSP00000422875
ENST00000512702
D6R9V3 [Direct mapping]
Coiled-coil and C2 domain-containing protein 2A
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Congenital malformations
   Congenital malformations of the nervous system
   Congenital malformations of the urinary system
Protein evidence (Ezkurdia et al 2014)
Show all
687 aa
79.2 kDa
No 0
CC2D2A-213
ENSP00000488534
ENST00000514039
A0A0J9YXT3 [Direct mapping]
Coiled-coil and C2 domain-containing protein 2A
Show all
   SPOCTOPUS predicted membrane proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Congenital malformations
   Congenital malformations of the nervous system
   Congenital malformations of the urinary system
Protein evidence (Ezkurdia et al 2014)
Show all
322 aa
36.9 kDa
No 0
CC2D2A-214
ENSP00000502062
ENST00000514450
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Congenital malformations
   Congenital malformations of the nervous system
   Congenital malformations of the urinary system
Protein evidence (Ezkurdia et al 2014)
Show all
276 aa
31.9 kDa
No 0
CC2D2A-215
ENSP00000424368
ENST00000515124
Q9P2K1 [Direct mapping]
Coiled-coil and C2 domain-containing protein 2A
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Disease related genes
Human disease related genes
   Congenital malformations
   Congenital malformations of the nervous system
   Congenital malformations of the urinary system
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005737 [cytoplasm]
GO:0005829 [cytosol]
GO:0005856 [cytoskeleton]
GO:0005929 [cilium]
GO:0007224 [smoothened signaling pathway]
GO:0030030 [cell projection organization]
GO:0035869 [ciliary transition zone]
GO:0036038 [MKS complex]
GO:0042995 [cell projection]
GO:0060271 [cilium assembly]
GO:0097711 [ciliary basal body-plasma membrane docking]
Show all
111 aa
12.6 kDa
No 0
CC2D2A-218
ENSP00000499005
ENST00000651385
A0A494C1C5 [Direct mapping]
Coiled-coil and C2 domain-containing protein 2A
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Congenital malformations
   Congenital malformations of the nervous system
   Congenital malformations of the urinary system
Protein evidence (Ezkurdia et al 2014)
Show all
638 aa
73.4 kDa
No 0
CC2D2A-219
ENSP00000502719
ENST00000652443
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Congenital malformations
   Congenital malformations of the nervous system
   Congenital malformations of the urinary system
Protein evidence (Ezkurdia et al 2014)
Show all
62 aa
6.8 kDa
No 0
CC2D2A-220
ENSP00000502333
ENST00000674945
   SPOCTOPUS predicted membrane proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Congenital malformations
   Congenital malformations of the nervous system
   Congenital malformations of the urinary system
Protein evidence (Ezkurdia et al 2014)
Show all
1512 aa
173.7 kDa
No 0

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