C2CD3
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].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| C2 calcium dependent domain containing 3 | MIM:615944 | Ensembl:ENSG00000168014 | HGNC:HGNC:24564 | PA162379082 | 11q13.4 |
GO terms in C2CD3
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | IPI | GO:0005515 | protein binding |
| BP | IEA | GO:0001701 | in utero embryonic development |
| BP | IEA | GO:0001947 | heart looping |
| BP | IEA | GO:0007420 | brain development |
| BP | IEA | GO:0008589 | regulation of smoothened signaling pathway |
| BP | IEA | GO:0016485 | protein processing |
| BP | IEA | GO:0021915 | neural tube development |
| BP | IEA | GO:0021997 | neural plate axis specification |
| BP | IEA | GO:0030162 | regulation of proteolysis |
| BP | IEA | GO:0042733 | embryonic digit morphogenesis |
| BP | IDA | GO:0061511 | centriole elongation |
| BP | IDA | GO:0071539 | protein localization to centrosome |
| BP | TAS | GO:0097711 | ciliary basal body-plasma membrane docking |
| BP | IMP | GO:1905515 | non-motile cilium assembly |
| CC | IDA | GO:0005813 | centrosome |
| CC | IDA | GO:0005814 | centriole |
| CC | TAS | GO:0005829 | cytosol |
| CC | IDA | GO:0034451 | centriolar satellite |
| CC | IEA | GO:0036064 | ciliary basal body |
Gene expression in normal tissue: C2CD3
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in C2CD3
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| reactome | R-HSA-1852241 | Organelle biogenesis and maintenance |
| reactome | R-HSA-5617833 | Cilium Assembly |
| reactome | R-HSA-5620912 | Anchoring of the basal body to the plasma membrane |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in C2CD3
CLASSFICATION
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