EDNRB wt Allele

Preferred Label : EDNRB wt Allele;

NCIt synonyms : ET-BR; ABCDS; ETB; Endothelin Receptor Type B wt Allele; HSCR2; HSCR; ETRB; ETBR; ET-B; WS4A; ETB1;

NCIt definition : Human EDNRB wild-type allele is located in the vicinity of 13q22 and is approximately 24 kb in length. This allele, which encodes endothelin receptor type B protein, plays a role in vasoconstriction, vasodilation, bronchoconstriction and cell proliferation. Mutations in this gene are associated with ABCD syndrome, Waardenburg syndrome, type 4A, and susceptibility to Hirschsprung disease 2.;

GenBank Accession Number : NM_000115;

Details

Origin ID

C105929;

UMLS CUI

C3811132;

Automatic exact mappings (from CISMeF team)
- ABCD syndrome [DO Concept]
- Abcd syndrome [OMIM Phenotype]
- Abscess [LOINC System]
- Endothelin receptor, type b [OMIM gene]
- Hirschsprung disease [ORDO Disease]
- Hirschsprung disease, susceptibility to, 1 [OMIM Phenotype]
- Hirschsprung disease, susceptibility to, 2 [OMIM Phenotype]
- Waardenburg syndrome type 4A [DO Concept]
- Waardenburg syndrome, type 4a [OMIM Phenotype]
- abscess [MeSH Descriptor]
- endothelin receptor type B [ORDO Gene]
OMIM relation
- Endothelin receptor, type b [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_is_element_in_pathway
- Arf6 Trafficking Pathway [NCIt concept]
- Calcium-Mediated Signaling Pathway [NCIt concept]
- Endothelin Pathway [NCIt concept]
- Melanogenesis Pathway [NCIt concept]
- Neuroactive Ligand-Receptor Signaling Pathway [NCIt concept]
gene_plays_role_in_process
- G Protein-Coupled Receptor Signaling [NCIt concept]
- Ligand Binding [NCIt concept]
- Receptor Signaling [NCIt concept]
- Signal Transduction [NCIt concept]

Keyword's position in hierarchy(ies) :

Main resources

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