C2CD3, C2 domain containing 3 centriole elongation regulator

C2CD3, C2 domain containing 3 centriole elongation regulator

• 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]

• Gene Synonyms (C2 domain-containing protein 3, C2 calcium dependent domain containing 3, OFD14,)
• NCBI Gene ID: 26005
• Species: Homo sapiens (Human)
• UNIPROT ID#>>Q4AC94
• View the NCBI Database for this Gene »

Gene products are often involved in multiple pathways and networks within a living cell. Learn more about other interacting partners.

C2 domain containing 3 centriole elongation regulator interacts with:

• centromere protein J
  centrosomal protein 120
  centrosomal protein 128
  centrosomal protein 135
  centrosomal protein 43
  centrosomal protein 63
  centrosomal protein 89
  mediator complex subunit 4
  ninein
  spindle and centriole associated protein 1

Paste a protein or nucleic acid sequence in the box below to confirm that it matches this gene’s reference sequence(s). Click on a link under RELATED ORF CLONES to see how a sequence matches to an experimentally-validated ORF clone.