Entrez gene ID | | 57545 |
Official gene symbol | | CC2D2A |
Full name | | coiled-coil and C2 domain containing 2A |
Aliases | | ,JBTS9,KIAA1345,MKS6, |
Gene 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] |
Location | | Chromosome: 4 Locus: 4p15.32 |
Gene position | | 15471489 - 15603180 Map Viewer |
Gene orientation | | plus |
Gene size | | 131692 bp |
Gene sequence |
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OMIM ID | | 612013 |
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