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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].

Name	OMIM ID	Ensembl ID	HGNC ID	PHARMGKB ID	Map Location
coiled-coil and C2 domain containing 2A	MIM:612013	Ensembl:ENSG00000048342	HGNC:HGNC:29253	PA162381194	4p15.32

GO terms in CC2D2A

Term Type	Evidence Type	GO Term ID	GO Des.
CC	TAS	GO:0005829	cytosol
CC	IEA	GO:0005856	cytoskeleton
CC	ISS	GO:0035869	ciliary transition zone
CC	ISS	GO:0036038	MKS complex
BP	IEA	GO:0001843	neural tube closure
BP	ISS	GO:0007224	smoothened signaling pathway
BP	IEA	GO:0007368	determination of left/right symmetry
BP	IEA	GO:0007507	heart development
BP	IEA	GO:0035082	axoneme assembly
BP	IEA	GO:0043010	camera-type eye development
BP	IEA	GO:0044458	motile cilium assembly
BP	ISS	GO:0060271	cilium assembly
BP	TAS	GO:0097711	ciliary basal body-plasma membrane docking
BP	IEA	GO:1904491	protein localization to ciliary transition zone
BP	IEA	GO:1905515	non-motile cilium assembly
BP	IEA	GO:1990403	embryonic brain development

Gene expression in normal tissue: CC2D2A

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Gene-model tissue-cancer distribution: Bubble Plot

Gene-drug pathway distribution

Pathways in CC2D2A

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-Drug: Aster Plot

Drug ID	Drug Name	Model Num.
iGMDRD536	PLX-4720	1

Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in CC2D2A

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DATATYPES

CLASSFICATION

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