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].

NameOMIM IDEnsembl IDHGNC IDPHARMGKB IDMap Location
C2 calcium dependent domain containing 3MIM:615944Ensembl:ENSG00000168014HGNC:HGNC:24564PA16237908211q13.4

GO terms in C2CD3


Term TypeEvidence TypeGO Term IDGO Des.
MFIPIGO:0005515protein binding
BPIEAGO:0001701in utero embryonic development
BPIEAGO:0001947heart looping
BPIEAGO:0007420brain development
BPIEAGO:0008589regulation of smoothened signaling pathway
BPIEAGO:0016485protein processing
BPIEAGO:0021915neural tube development
BPIEAGO:0021997neural plate axis specification
BPIEAGO:0030162regulation of proteolysis
BPIEAGO:0042733embryonic digit morphogenesis
BPIDAGO:0061511centriole elongation
BPIDAGO:0071539protein localization to centrosome
BPTASGO:0097711ciliary basal body-plasma membrane docking
BPIMPGO:1905515non-motile cilium assembly
CCIDAGO:0005813centrosome
CCIDAGO:0005814centriole
CCTASGO:0005829cytosol
CCIDAGO:0034451centriolar satellite
CCIEAGO:0036064ciliary basal body

Gene expression in normal tissue: C2CD3

Gene-model tissue-cancer distribution: Bubble Plot

Gene-drug pathway distribution

Pathways in C2CD3


DatabasePathway IDPathway Des.
reactomeR-HSA-1852241Organelle biogenesis and maintenance
reactomeR-HSA-5617833Cilium Assembly
reactomeR-HSA-5620912Anchoring of the basal body to the plasma membrane

Gene-Drug: Aster Plot


Drug IDDrug NameModel Num.
iGMDRD353PD03259011

Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in C2CD3

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