HERC2 wt Allele

Preferred Label : HERC2 wt Allele;

NCIt synonyms : Hect Domain and RLD 2 Gene; HECT Domain and RCC1-Like Domain 2 Gene; SHEP1; HECT and RLD Domain Containing E3 Ubiquitin Protein Ligase 2 wt Allele; MRT38; D15F37S1; jdf2; p528;

NCIt definition : Human HERC2 wild-type allele is located in the vicinity of 15q13 and is approximately 211 kb in length. This allele, which encodes E3 ubiquitin-protein ligase HERC2 protein, plays a role in the modulation of both DNA repair and protein ubiquitination. Variation in the gene defines the skin/hair/eye pigmentation variation locus 1, and mutation of the gene is associated with autosomal recessive mental retardation 38.;

GenBank Accession Number : AF071172;

Details

Origin ID

C117249;

UMLS CUI

C3890555;

Automatic exact mappings (from CISMeF team)
- HECT and RLD domain containing E3 ubiquitin protein ligase 2 [ORDO Gene]
- Intellectual developmental disorder, autosomal recessive 38 [OMIM Phenotype]
- Sh2 domain-containing protein 3c [OMIM gene]
- Skin/hair/eye pigmentation, variation in, 1 [OMIM Phenotype]
OMIM relation
- Hect domain and rcc1-like domain 2 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_is_element_in_pathway
- Ubiquitin-mediated Proteolysis Pathway [NCIt concept]
gene_plays_role_in_process
- DNA Repair [NCIt concept]
- Ubiquitinated Protein Degradation [NCIt concept]
- Ubiquitination [NCIt concept]

Keyword's position in hierarchy(ies) :

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