CC2D2A

Coiled-coil and C2 domain-containing protein 2A that in humans is encoded by the CC2D2A gene.^[5][6][7]

CC2D2A
Identifiers
Aliases	CC2D2A, JBTS9, MKS6, coiled-coil and C2 domain containing 2A, COACH2, RP93
External IDs	OMIM: 612013; MGI: 1924487; HomoloGene: 18159; GeneCards: CC2D2A; OMA:CC2D2A - orthologs
Gene location (Human) Chr. Chromosome 4 (human)[1] Band 4p15.32 Start 15,469,865 bp[1] End 15,601,552 bp[1]
Gene location (Mouse) Chr. Chromosome 5 (mouse)[2] Band 5|5 B3 Start 43,662,346 bp[2] End 43,740,972 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in right uterine tube bronchial epithelial cell ventricular zone Achilles tendon olfactory zone of nasal mucosa epithelium of colon sural nerve right coronary artery ganglionic eminence popliteal artery Top expressed in retinal pigment epithelium pituitary gland otolith organ utricle ciliary body iris neural layer of retina autopod region foot hand More reference expression data BioGPS n/a
Orthologs Species Human Mouse Entrez 57545 231214 Ensembl ENSG00000048342 ENSMUSG00000039765 UniProt Q9P2K1 Q8CFW7 RefSeq (mRNA) NM_001080522 NM_001164720 NM_020785 NM_001378615 NM_001378617 NM_172274 NM_001359903 NM_001359904 NM_001359905 NM_001359906 RefSeq (protein) NP_001073991 NP_001158192 NP_065836 NP_001365544 NP_001365546 NP_758478 NP_001346832 NP_001346833 NP_001346834 NP_001346835 Location (UCSC) Chr 4: 15.47 – 15.6 Mb Chr 5: 43.66 – 43.74 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Function

This gene encodes a coiled-coil and calcium binding domain protein that appears to play a critical role in cilia formation.^[5]

Clinical significance

Mutations in the CC2D2A gene are associated with Meckel syndrome as well as Joubert syndrome.^[5]