CC2D2A


Summary: This gene encodes a coiled-coil and calcium binding domain protein that appears to play a critical role in cilia formation. Mutations in this gene cause Meckel syndrome type 6, as well as Joubert syndrome type 9. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009].

NameOMIM IDEnsembl IDHGNC IDPHARMGKB IDMap Location
coiled-coil and C2 domain containing 2AMIM:612013Ensembl:ENSG00000048342HGNC:HGNC:29253PA1623811944p15.32

GO terms in CC2D2A


Term TypeEvidence TypeGO Term IDGO Des.
CCTASGO:0005829cytosol
CCIEAGO:0005856cytoskeleton
CCISSGO:0035869ciliary transition zone
CCISSGO:0036038MKS complex
BPIEAGO:0001843neural tube closure
BPISSGO:0007224smoothened signaling pathway
BPIEAGO:0007368determination of left/right symmetry
BPIEAGO:0007507heart development
BPIEAGO:0035082axoneme assembly
BPIEAGO:0043010camera-type eye development
BPIEAGO:0044458motile cilium assembly
BPISSGO:0060271cilium assembly
BPTASGO:0097711ciliary basal body-plasma membrane docking
BPIEAGO:1904491protein localization to ciliary transition zone
BPIEAGO:1905515non-motile cilium assembly
BPIEAGO:1990403embryonic brain development

Gene expression in normal tissue: CC2D2A

Gene-model tissue-cancer distribution: Bubble Plot

Gene-drug pathway distribution

Pathways in CC2D2A


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.
iGMDRD536PLX-47201

Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in CC2D2A

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