C2CD3

This gene encodes a protein that functions as a regulator of centriole elongation. Studies of the orthologous mouse protein show that it promotes centriolar distal appendage assembly and is also required for the recruitment of other ciliogenic proteins, including intraflagellar transport proteins. Mutations in this gene cause orofaciodigital syndrome XIV (OFD14), a ciliopathy resulting in malformations of the oral cavity, face and digits. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Nov 2014]

Description

C2 domain containing 3 centriole elongation regulator

Tissue specificity

Low tissue specificity

Subcell location

Nucleoplasm, Centrosome

Predicted location

Intracellular

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

11 (74012718 - 74171210)

Ensembl ID

ENSG00000168014  (ver. 103.38)

Orthologs

Mouse C2cd3: ENSMUSG00000047248

UniProt

Q4AC94

neXtProt

NX_Q4AC94

Human splice variants
Mouse splice variants

Protein structure