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CC2D2A

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GENERAL INFORMATION

Gene name

 CC2D2A

Gene description

 Coiled-coil and C2 domain containing 2A

Protein class

 Disease related genes
Predicted intracellular proteins

Predicted localization

 Intracellular

Number of transcripts

 9
SHOW MORE

HUMAN PROTEIN ATLAS INFORMATION

Summary

RNA cell category

 Mixed

Protein evidence

 Evidence at protein level

Main location

 Not available

DATA RELIABILITY

Reliability score

 Pending cell analysis.

ASSAYS
RNA expression

RNA EXPRESSION OVERVIEW
RNA cell line category: Mixed
Organ
Origin
Category
Expression
Alphabetical
Cell lines sorted after organ of phenotypic resemblance.

GENE INFORMATION

Gene name

 CC2D2A (HGNC Symbol)

Synonyms

 JBTS9, KIAA1345, MKS6

Description

 Coiled-coil and C2 domain containing 2A (HGNC Symbol)

Entrez gene summary

 This gene encodes a coiled-coil and calcium binding domain protein that appears to play a critical role in cilia formation. Mutations in this gene cause Meckel syndrome type 6, as well as Joubert syndrome type 9. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]

Chromosome

 4

Cytoband

 p15.32

Chromosome location (bp)

 15469865 - 15601557

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000048342 (version 83.38)

Entrez gene

 57545

UniProt

 Q9P2K1 (UniProt - Evidence at protein level)

neXtProt

 NX_Q9P2K1

Antibodypedia

 CC2D2A antibodies

PROTEIN BROWSER
CC2D2A-002
CC2D2A-003
CC2D2A-005
CC2D2A-006
CC2D2A-013
CC2D2A-016
CC2D2A-018
CC2D2A-201
CC2D2A-202

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
CC2D2A-002
ENSP00000421809
ENST00000503292
Q9P2K1 [Direct mapping]
Coiled-coil and C2 domain-containing protein 2A
Show all
   SPOCTOPUS predicted membrane proteins
Predicted intracellular proteins
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding]
GO:0005829 [cytosol]
GO:0005856 [cytoskeleton]
GO:0006996 [organelle organization]
GO:0007224 [smoothened signaling pathway]
GO:0035869 [ciliary transition zone]
GO:0036038 [TCTN-B9D complex]
GO:0042384 [cilium assembly]
GO:0060271 [cilium morphogenesis]
Show all
 1620 aa
186.2 kDa 		No 0
CC2D2A-003
ENSP00000422875
ENST00000512702
D6R9V3 [Direct mapping]
Coiled-coil and C2 domain-containing protein 2A
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
 588 aa
68.3 kDa 		No 0
CC2D2A-005
ENSP00000424368
ENST00000515124
Q9P2K1 [Direct mapping]
Coiled-coil and C2 domain-containing protein 2A
Show all
Predicted intracellular proteins
Disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005829 [cytosol]
GO:0005856 [cytoskeleton]
GO:0006996 [organelle organization]
GO:0007224 [smoothened signaling pathway]
GO:0035869 [ciliary transition zone]
GO:0036038 [TCTN-B9D complex]
GO:0042384 [cilium assembly]
GO:0060271 [cilium morphogenesis]
Show all
 111 aa
12.6 kDa 		No 0
CC2D2A-006
ENSP00000426846
ENST00000503658
Q9P2K1 [Direct mapping]
Coiled-coil and C2 domain-containing protein 2A
Show all
Predicted intracellular proteins
Disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005829 [cytosol]
GO:0005856 [cytoskeleton]
GO:0006996 [organelle organization]
GO:0007224 [smoothened signaling pathway]
GO:0035869 [ciliary transition zone]
GO:0036038 [TCTN-B9D complex]
GO:0042384 [cilium assembly]
GO:0060271 [cilium morphogenesis]
Show all
 122 aa
13.6 kDa 		No 0
CC2D2A-013
ENSP00000427221
ENST00000507954
Q9P2K1 [Direct mapping]
Coiled-coil and C2 domain-containing protein 2A
Show all
Predicted intracellular proteins
Disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005829 [cytosol]
GO:0005856 [cytoskeleton]
GO:0006996 [organelle organization]
GO:0007224 [smoothened signaling pathway]
GO:0035869 [ciliary transition zone]
GO:0036038 [TCTN-B9D complex]
GO:0042384 [cilium assembly]
GO:0060271 [cilium morphogenesis]
Show all
 111 aa
12.6 kDa 		No 0
CC2D2A-016
ENSP00000488534
ENST00000514039
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
 142 aa
16.4 kDa 		No 0
CC2D2A-018
ENSP00000374303
ENST00000389652
   SPOCTOPUS predicted membrane proteins
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding]
Show all
 1453 aa
166.7 kDa 		No 0
CC2D2A-201
ENSP00000403465
ENST00000424120
Q9P2K1 [Direct mapping]
Coiled-coil and C2 domain-containing protein 2A
Show all
   SPOCTOPUS predicted membrane proteins
Predicted intracellular proteins
Disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding]
GO:0005829 [cytosol]
GO:0005856 [cytoskeleton]
GO:0006996 [organelle organization]
GO:0007224 [smoothened signaling pathway]
GO:0007368 [determination of left/right symmetry]
GO:0007507 [heart development]
GO:0035869 [ciliary transition zone]
GO:0036038 [TCTN-B9D complex]
GO:0042384 [cilium assembly]
GO:0060271 [cilium morphogenesis]
Show all
 1620 aa
186.2 kDa 		No 0
CC2D2A-202
ENSP00000401154
ENST00000438599
Q9P2K1 [Direct mapping]
Coiled-coil and C2 domain-containing protein 2A
Show all
Predicted intracellular proteins
Disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005829 [cytosol]
GO:0005856 [cytoskeleton]
GO:0006996 [organelle organization]
GO:0007224 [smoothened signaling pathway]
GO:0035869 [ciliary transition zone]
GO:0036038 [TCTN-B9D complex]
GO:0042384 [cilium assembly]
GO:0060271 [cilium morphogenesis]
Show all
 122 aa
13.6 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.