| UniProt Protein Function: | C2CD3: 5 isoforms of the human protein are produced by alternative splicing.Chromosomal Location of Human Ortholog: 11q13.4Cellular Component: centriole; centrosome; cytosolMolecular Function: protein bindingBiological Process: neural tube development; sensory cilium biogenesis; in utero embryonic development; neural plate pattern formation; organelle organization and biogenesis; regulation of proteolysis; protein processing; brain development; heart looping; embryonic digit morphogenesis; regulation of smoothened signaling pathwayDisease: Orofaciodigital Syndrome Xiv |
| UniProt Protein Details: | |
| NCBI Summary: | 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] |
| UniProt Code: | Q4AC94 |
| NCBI GenInfo Identifier: | 148596944 |
| NCBI Gene ID: | 26005 |
| NCBI Accession: | NP_056346.3 |
| UniProt Secondary Accession: | Q4AC94,Q2NLE1, Q3C1U9, Q6ZU92, Q8IYM4, Q8NB87, Q8NDH7 Q9Y4M2, C9JR55, E2QRD1 |
| UniProt Related Accession: | Q4AC94 |
| Molecular Weight: | 213,274 Da |
| NCBI Full Name: | C2 domain-containing protein 3 isoform 2 |
| NCBI Synonym Full Names: | C2 calcium-dependent domain containing 3 |
| NCBI Official Symbol: | C2CD3Â Â |
| NCBI Official Synonym Symbols: | OFD14Â Â |
| NCBI Protein Information: | C2 domain-containing protein 3 |
| UniProt Protein Name: | C2 domain-containing protein 3 |
| UniProt Synonym Protein Names: | |
| Protein Family: | C2 domain-containing protein |
| UniProt Gene Name: | C2CD3Â Â |
| UniProt Entry Name: | C2CD3_HUMAN |
