CC2D2A (coiled-coil and C2 domain containing 2A)

2014-11-01  

Identity

HGNC
LOCATION
4p15.32
LOCUSID
ALIAS
COACH2,JBTS9,MKS6
FUSION GENES

Other Information

Locus ID:

NCBI: 57545
MIM: 612013
HGNC: 29253
Ensembl: ENSG00000048342

Variants:

dbSNP: 57545
ClinVar: 57545
TCGA: ENSG00000048342
COSMIC: CC2D2A

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000048342ENST00000389652A0A140T8Y7
ENSG00000048342ENST00000424120Q9P2K1
ENSG00000048342ENST00000438599Q9P2K1
ENSG00000048342ENST00000503292Q9P2K1
ENSG00000048342ENST00000503658Q9P2K1
ENSG00000048342ENST00000506643H0Y941
ENSG00000048342ENST00000507954Q9P2K1
ENSG00000048342ENST00000511544A0A0M3HER0
ENSG00000048342ENST00000512702D6R9V3
ENSG00000048342ENST00000514039A0A0J9YXT3
ENSG00000048342ENST00000515124Q9P2K1
ENSG00000048342ENST00000634028A0A0J9YY35
ENSG00000048342ENST00000650860A0A494C0X1
ENSG00000048342ENST00000651385A0A494C1C5

Expression (GTEx)

0
5
10
15
20

Pathways

PathwaySourceExternal ID
Organelle biogenesis and maintenanceREACTOMER-HSA-1852241
Cilium AssemblyREACTOMER-HSA-5617833
Anchoring of the basal body to the plasma membraneREACTOMER-HSA-5620912

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
189507402008CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290.102
185136802008Identification of CC2D2A as a Meckel syndrome gene adds an important piece to the ciliopathy puzzle.61
210681282011Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy.60
195742602010Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis).47
197775772009CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation.36
183875942008CC2D2A, encoding a coiled-coil and C2 domain protein, causes autosomal-recessive mental retardation with retinitis pigmentosa.35
264856452015The Ciliopathy Protein CC2D2A Associates with NINL and Functions in RAB8-MICAL3-Regulated Vesicle Trafficking.26
222418552012Genotype-phenotype correlation in CC2D2A-related Joubert syndrome reveals an association with ventriculomegaly and seizures.23
268621572016Genetic spectrum of Saudi Arabian patients with antenatal cystic kidney disease and ciliopathy phenotypes using a targeted renal gene panel.5
220234322012Positive association of CC2D1A and CC2D2A gene haplotypes with mental retardation in a Han Chinese population.2

Citation

Dessen P

CC2D2A (coiled-coil and C2 domain containing 2A)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/61456/cc2d2a