CC2D2A

GENE INFORMATION

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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 78.38)

Entrez gene

57545

UniProt

Q9P2K1 (UniProt - Evidence at protein level)

neXtProt

NX_Q9P2K1

Antibodypedia

CC2D2A antibodies
 

PROTEIN VIEW

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CC2D2A-002
 
CC2D2A-003
 
CC2D2A-004
 
CC2D2A-005
 
CC2D2A-006
 
CC2D2A-010
 
CC2D2A-013
 
CC2D2A-201
 
CC2D2A-202
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

CC2D2A-002 ENSP00000421809
ENST00000503292
Q9P2K1
Show all »
Show » Show » 1620 186.2 No 0
CC2D2A-003 ENSP00000422875
ENST00000512702
D6R9V3
Show all »
Show » 588 68.3 No 0
CC2D2A-004 ENSP00000426109
ENST00000511544
Q9P2K1
Show all »
Show » Show » 122 13.6 No 0
CC2D2A-005 ENSP00000424368
ENST00000515124
Q9P2K1
Show all »
Show » Show » 111 12.6 No 0
CC2D2A-006 ENSP00000426846
ENST00000503658
Q9P2K1
Show all »
Show » Show » 122 13.6 No 0
CC2D2A-010 ENSP00000374303
ENST00000389652
Q9P2K1
Show all »
Show » Show » 1512 173.7 No 0
CC2D2A-013 ENSP00000427221
ENST00000507954
Q9P2K1
Show all »
Show » Show » 111 12.6 No 0
CC2D2A-201 ENSP00000403465
ENST00000424120
Q9P2K1
Show all »
Show » Show » 1620 186.2 No 0
CC2D2A-202 ENSP00000401154
ENST00000438599
Q9P2K1
Show all »
Show » Show » 122 13.6 No 0