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: 26005
MIM: 615944
HGNC: 24564
Ensembl: ENSG00000168014
Variants:
dbSNP: 26005
ClinVar: 26005
TCGA: ENSG00000168014
COSMIC: C2CD3
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 |
|---|---|---|---|
| 35319462 | 2022 | Evolutionary conservation of centriole rotational asymmetry in the human centrosome. | 7 |
| 35319462 | 2022 | Evolutionary conservation of centriole rotational asymmetry in the human centrosome. | 7 |
| 30988386 | 2019 | CEP120 interacts with C2CD3 and Talpid3 and is required for centriole appendage assembly and ciliogenesis. | 17 |
| 30988386 | 2019 | CEP120 interacts with C2CD3 and Talpid3 and is required for centriole appendage assembly and ciliogenesis. | 17 |
| 30097616 | 2018 | Characterization of three ciliopathy pedigrees expands the phenotype associated with biallelic C2CD3 variants. | 12 |
| 30258116 | 2018 | A distal centriolar protein network controls organelle maturation and asymmetry. | 20 |
| 30097616 | 2018 | Characterization of three ciliopathy pedigrees expands the phenotype associated with biallelic C2CD3 variants. | 12 |
| 30258116 | 2018 | A distal centriolar protein network controls organelle maturation and asymmetry. | 20 |
| 27094867 | 2016 | Mutations in human C2CD3 cause skeletal dysplasia and provide new insights into phenotypic and cellular consequences of altered C2CD3 function. | 18 |
| 27094867 | 2016 | Mutations in human C2CD3 cause skeletal dysplasia and provide new insights into phenotypic and cellular consequences of altered C2CD3 function. | 18 |
| 24997988 | 2014 | The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation. | 72 |
| 25412110 | 2014 | SAS-1 is a C2 domain protein critical for centriole integrity in C. elegans. | 12 |
| 24997988 | 2014 | The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation. | 72 |
| 25412110 | 2014 | SAS-1 is a C2 domain protein critical for centriole integrity in C. elegans. | 12 |
Citation
Dessen P
C2CD3 (C2 domain containing 3 centriole elongation regulator)
Atlas Genet Cytogenet Oncol Haematol. 2014-08-01
Online version: http://atlasgeneticsoncology.org/gene/54170/c2cd3-(c2-domain-containing-3-centriole-elongation-regulator)
