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
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 in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in CC2D2A
CLASSFICATION
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