RNF216 wt Allele

Preferred Label : RNF216 wt Allele;

NCIt synonyms : Ring Finger Protein 216 wt Allele; CAHH; ZIN; UBCE7IP1; TRIAD3; U7I1;

NCIt definition : Human RNF216 wild-type allele is located in the vicinity of 7p22.1 and is approximately 162 kb in length. This allele, which encodes E3 ubiquitin-protein ligase RNF216 protein, plays a role in both protein ubiquitination and catabolism. Mutation of the protein is associated with cerebellar ataxia and hypogonadotropic hypogonadism.;

NCIt note : There is a report of a chromosomal aberration involving the FBXL18 gene and the RNF216 gene, which is associated with breast cancer. (COSMIC);

GenBank Accession Number : AY062174;

Détails

Origin ID

C114440;

UMLS CUI

C3810661;

Automatic exact mappings (from CISMeF team)
- Gordon Holmes syndrome [DO Concept]
- Gordon holmes syndrome [OMIM Phenotype]
- Ring finger protein 216 [OMIM gene]
- Striatin, calmodulin-binding protein 4 [OMIM gene]
- ring finger protein 216 [ORDO Gene]
OMIM relation
- Ring finger protein 216 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 7p22.1 [NCIt concept]
gene_plays_role_in_process
- Antiviral Response [NCIt concept]
- Ubiquitinated Protein Degradation [NCIt concept]
- Ubiquitination [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

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