CC2D2A, Official Symbol CC2D2Aprovided by HGNC Official Full Name coiled-coil and C2 domain containing 2Aprovided by HGNC Primary source HGNC:HGNC:29253 See related Ensembl:ENSG00000048342 MIM:612013; AllianceGenome:HGNC:29253 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as MKS6; RP93; JBTS9; COACH2 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] Expression Ubiquitous expression in kidney (RPKM 3.7), endometrium (RPKM 3.2) and 23 other tissues See more Orthologs mouse all