EPAS1 wt Allele

Preferred Label : EPAS1 wt Allele;

NCIt synonyms : MOP2; PASD2; ECYT4; HLF; BHLHE73; Endothelial PAS Domain Protein 1 wt Allele; HIF2A; Hypoxia-Inducible Factor 2, Alpha Subunit Gene; Member of PAS Superfamily 2 Gene;

NCIt definition : Human EPAS1 wild-type allele is located within 2p21-p16 and is approximately 93 kb in length. This allele, which encodes endothelial PAS domain-containing protein 1, is involved in the regulation of transcription in response to oxygen. Mutation of the gene is associated with familial erythrocytosis type 4.;

GenBank Accession Number : U81984;

Details

Origin ID

C104305;

UMLS CUI

C3538706;

Automatic exact mappings (from CISMeF team)
- Endothelial pas domain protein 1 [OMIM gene]
- Erythrocytosis, familial, 4 [OMIM Phenotype]
- HLF transcription factor, PAR bZIP family member [ORDO Gene]
- Hepatic leukemia factor [OMIM gene]
- endothelial PAS domain protein 1 [ORDO Gene]
- familial erythrocytosis 4 [DO Concept]
OMIM relation
- Endothelial pas domain protein 1 [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
- HIF-2-Alpha Transcription Factor Pathway [NCIt concept]
gene_plays_role_in_process
- Cellular Stress Response [NCIt concept]
- DNA Binding [NCIt concept]
- Transcriptional Regulation [NCIt concept]

Keyword's position in hierarchy(ies) :

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