EPOR wt Allele

Preferred Label : EPOR wt Allele;

NCIt synonyms : Erythropoietin Receptor wt Allele;

NCIt definition : Human EPOR wild-type allele is located within 19p13.3-p13.2 and is approximately 7 kb in length. This allele, which encodes erythropoietin receptor protein, is involved in the activation of several different intracellular pathways including: Ras/MAP kinase, phosphatidylinositol 3-kinase and STAT transcription factors. The allele also plays a critical role in erythroid cell survival.;

GenBank Accession Number : NM_000121;

Details

Origin ID

C51351;

UMLS CUI

C1707860;

OMIM relation
- Erythropoietin receptor [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_associated_with_disease
- Erythroleukemia [NCIt concept]
- Familial Polycythemia [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_has_physical_location
- 19: 11356019-11349475 [NCIt concept]
gene_in_chromosomal_location
- 19p13.3-p13.2 [NCIt concept]
gene_is_element_in_pathway
- Cytokine-Cytokine Receptor Signaling Pathway [NCIt concept]
- EPO Signaling Pathway [NCIt concept]
- Erythropoietin Neuroprotection Pathway [NCIt concept]
- Erythropoietin Signaling Pathway [NCIt concept]
- Hematopoietic Cell Lineage Pathway [NCIt concept]
- Mast/Stem Cell Growth Factor Receptor Signaling Pathway [NCIt concept]
gene_plays_role_in_process
- Cytokine Signaling [NCIt concept]
- Cytokine Signaling Process [NCIt concept]
- Erythropoiesis [NCIt concept]
- Intercellular Communication Process [NCIt concept]
- Ligand Binding [NCIt concept]
- Receptor Signaling [NCIt concept]

Keyword's position in hierarchy(ies) :

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