EGLN2 wt Allele

Preferred Label : EGLN2 wt Allele;

NCIt synonyms : Egl Nine Homolog 2 (C. elegans) Gene; HIF-PH1; HIFP4H1; EGL9, C. elegans, Homolog of, 2 Gene; HIFPH1; EGL Nine (C.elegans) Homolog 2 Gene; Egl-9 Family Hypoxia-Inducible Factor 2 wt Allele; HPH-1; PHD1; HPH-3; EIT6;

NCIt definition : Human EGLN2 wild-type allele is located in the vicinity of 19q13.2 and is approximately 9 kb in length. This allele, which encodes egl nine homolog 2 protein, plays a role in the cellular response to hypoxia.;

NCIt note : A read-through transcript between EGLN2 and the upstream RAB4B gene exists. However, it is a candidate for nonsense-mediated mRNA decay (NMD), and unlikely to produce a protein product. (EntrezGene);

NCI Metathesaurus CUI : CL514488;

GenBank Accession Number : AJ310544;

Details

Origin ID

C131539;

UMLS CUI

C4321294;

Automatic exact mappings (from CISMeF team)
- Egl9 family hypoxia-inducible factor 2 [OMIM gene]
- Polyhomeotic homolog 1 [OMIM gene]
- polyhomeotic homolog 1 [ORDO Gene]
OMIM relation
- Egl9 family hypoxia-inducible factor 2 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 19q13.2 [NCIt concept]
gene_is_element_in_pathway
- HIF-1-Alpha Transcription Factor Pathway [NCIt concept]
- Renal Cell Carcinoma Pathway [NCIt concept]
gene_plays_role_in_process
- Cellular Stress Response [NCIt concept]
- Homeostatic Process [NCIt concept]
- Iron Chelation [NCIt concept]
- Oxidation [NCIt concept]
- Oxidation/Reduction [NCIt concept]

Keyword's position in hierarchy(ies) :

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