C2CD3 (C2 domain containing 3 centriole elongation regulator)

2014-08-01  

Identity

HGNC
LOCATION
11q13.4
LOCUSID
ALIAS
OFD14
FUSION GENES

Other Information

Locus ID:

NCBI: 26005
MIM: 615944
HGNC: 24564
Ensembl: ENSG00000168014

Variants:

dbSNP: 26005
ClinVar: 26005
TCGA: ENSG00000168014
COSMIC: C2CD3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000168014ENST00000313663Q4AC94
ENSG00000168014ENST00000334126Q4AC94
ENSG00000168014ENST00000414160H7BZB4
ENSG00000168014ENST00000442398H7C288
ENSG00000168014ENST00000535954H0YFM6
ENSG00000168014ENST00000538361H0YG44
ENSG00000168014ENST00000539061F5H0U2

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
249979882014The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation.39
270948672016Mutations in human C2CD3 cause skeletal dysplasia and provide new insights into phenotypic and cellular consequences of altered C2CD3 function.8
254121102014SAS-1 is a C2 domain protein critical for centriole integrity in C. elegans.5
300976162018Characterization of three ciliopathy pedigrees expands the phenotype associated with biallelic C2CD3 variants.3
302581162018A distal centriolar protein network controls organelle maturation and asymmetry.3

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