CC2D2A wt Allele

Preferred Label : CC2D2A wt Allele;

NCIt synonyms : RP93; COACH2; Coiled-Coil and C2 Domain Containing 2A wt Allele; KIAA1345; MKS6; JBTS9; Meckel Syndrome, Type 6 Gene;

NCIt definition : Human CC2D2A wild-type allele is located in the vicinity of 4p15.32 and is approximately 132 kb in length. This allele, which encodes coiled-coil and C2 domain-containing protein 2A, plays a role in ciliogenesis and sonic hedgehog (SHH) signaling. Mutation of the gene is associated with retinitis pigmentosa 93, Meckel syndrome type 6, Joubert syndrome type 9 and cerebellar vermis hypoplasia, oligophrenia, ataxia, colobomas, and hepatic fibrosis (COACH) syndrome 2.;

NCI Metathesaurus CUI : CL1914095;

GenBank Accession Number : AB037766;

Details

Origin ID

C198521;

UMLS CUI

C5780747;

OMIM relation
- Coiled-coil and c2 domains-containing protein 2a [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 4p15.32 [NCIt concept]
gene_plays_role_in_process
- Cytoskeletal Modeling [NCIt concept]
- Protein-Protein Interaction [NCIt concept]

Keyword's position in hierarchy(ies) :

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