RNF213 wt Allele

Preferred Label : RNF213 wt Allele;

NCIt synonyms : Ring Finger Protein 213 wt Allele; ALK Lymphoma Oligomerization Partner on Chromosome 17 Gene; KIAA1554; Chromosome 17 Open Reading Frame 27 Gene; DKFZp762N1115; FLJ13051; ALO17; KIAA1618; C17orf27; MGC46622; NET57; hCG_1812857; MGC9929; Moyamoya Disease 2 Gene; MYMY2; MYSTR;

NCIt definition : Human RNF213 wild-type allele is located in the vicinity of 17q25.3 and is approximately 135 kb in length. This allele, which encodes E3 ubiquitin-protein ligase RNF213 protein, may play a role in the regulation of protein ubiquitination. A chromosomal translocation t(2;17)(p23;q25) of this gene with the ALK gene is associated with anaplastic large cell lymphoma.;

NCIt note : The RNF213 gene also encodes protein ALO17. (EntrezGene);

GenBank Accession Number : AK074030;

Details

Origin ID

C97391;

UMLS CUI

C3273391;

Automatic exact mappings (from CISMeF team)
- Moyamoya disease 2 [OMIM Phenotype]
- Ring finger protein 213 [OMIM gene]
- ring finger protein 213 [ORDO Gene]
OMIM relation
- Ring finger protein 213 [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
- 17q25.3 [NCIt concept]

Keyword's position in hierarchy(ies) :

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