CC2D2A

Protein-coding gene in the species Homo sapiens From Wikipedia, the free encyclopedia

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

AliasesCC2D2A, JBTS9, MKS6, coiled-coil and C2 domain containing 2A, COACH2, RP93
End15,601,552 bp[1]
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CC2D2A
Identifiers
AliasesCC2D2A, JBTS9, MKS6, coiled-coil and C2 domain containing 2A, COACH2, RP93
External IDsOMIM: 612013; MGI: 1924487; HomoloGene: 18159; GeneCards: CC2D2A; OMA:CC2D2A - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
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 MbChr 5: 43.66 – 43.74 Mb
PubMed search[3][4]
Wikidata
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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]

References

Further reading

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