Identity
HGNC
LOCATION
4p15.32
LOCUSID
ALIAS
COACH2,JBTS9,MKS6
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 57545
MIM: 612013
HGNC: 29253
Ensembl: ENSG00000048342
Variants:
dbSNP: 57545
ClinVar: 57545
TCGA: ENSG00000048342
COSMIC: CC2D2A
RNA/Proteins
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Organelle biogenesis and maintenance | REACTOME | R-HSA-1852241 |
| Cilium Assembly | REACTOME | R-HSA-5617833 |
| Anchoring of the basal body to the plasma membrane | REACTOME | R-HSA-5620912 |
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36319078 | 2023 | New insights into CC2D2A-related Joubert syndrome. | 2 |
| 37107568 | 2023 | Exome Analysis Reveals Novel Missense and Deletion Variants in the CC2D2A Gene as Causative of Joubert Syndrome. | 0 |
| 36319078 | 2023 | New insights into CC2D2A-related Joubert syndrome. | 2 |
| 37107568 | 2023 | Exome Analysis Reveals Novel Missense and Deletion Variants in the CC2D2A Gene as Causative of Joubert Syndrome. | 0 |
| 32747192 | 2021 | Primary cilia biogenesis and associated retinal ciliopathies. | 41 |
| 32989887 | 2021 | Whole exome sequencing identified a novel missense alteration in CC2D2A causing Joubert syndrome 9 in a Pakhtun family. | 2 |
| 33486889 | 2021 | Update of genetic variants in CEP120 and CC2D2A-With an emphasis on genotype-phenotype correlations, tissue specific transcripts and exploring mutation specific exon skipping therapies. | 6 |
| 32747192 | 2021 | Primary cilia biogenesis and associated retinal ciliopathies. | 41 |
| 32989887 | 2021 | Whole exome sequencing identified a novel missense alteration in CC2D2A causing Joubert syndrome 9 in a Pakhtun family. | 2 |
| 33486889 | 2021 | Update of genetic variants in CEP120 and CC2D2A-With an emphasis on genotype-phenotype correlations, tissue specific transcripts and exploring mutation specific exon skipping therapies. | 6 |
| 31577543 | 2020 | Atypical, milder presentation in a child with CC2D2A and KIDINS220 variants. | 3 |
| 31577543 | 2020 | Atypical, milder presentation in a child with CC2D2A and KIDINS220 variants. | 3 |
| 30267408 | 2019 | Whole exome sequencing resolves complex phenotype and identifies CC2D2A mutations underlying non-syndromic rod-cone dystrophy. | 10 |
| 30267408 | 2019 | Whole exome sequencing resolves complex phenotype and identifies CC2D2A mutations underlying non-syndromic rod-cone dystrophy. | 10 |
| 28374938 | 2017 | Diagnostic use of computational retrotransposon detection: Successful definition of pathogenetic mechanism in a ciliopathy phenotype. | 3 |
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-(coiled-coil-and-c2-domain-containing-2a)
