ESR2 wt Allele

Preferred Label : ESR2 wt Allele;

NCIt synonyms : ERB; ESR-BETA; ESTRB; ESRB; ESR2; NR3A2; ER-BETA; Estrogen Receptor, Beta Gene; Oestrogen Receptor Beta Gene; Estrogen Receptor 2 wt Allele; ODG8; Estrogen Receptor 2 (ER Beta) Gene;

NCIt definition : Human ESR2 wild-type allele is located in the vicinity of 14q23.2 and is approximately 254 kb in length. This allele, which encodes estrogen receptor beta protein, is involved in transcriptional activation.;

GenBank Accession Number : NM_001437;

Details

Origin ID

C51575;

UMLS CUI

C1705471;

Automatic exact mappings (from CISMeF team)
- Erb's paralysis due to avulsion [ICD-11 More detail]
- Erb's paralysis due to neuroma [ICD-11 More detail]
- Erb's paralysis due to neuropraxis [ICD-11 More detail]
- Erb's paralysis due to rupture [ICD-11 More detail]
- Estrogen receptor 2 [OMIM gene]
- Ovarian dysgenesis 8 [OMIM Phenotype]
- Rolandic epilepsy [ORDO Disease]
- estrogen receptor 2 [ORDO Gene]
- estrogen receptor beta [MeSH Descriptor]
- estrus [MeSH Descriptor]
OMIM relation
- Estrogen receptor 2 [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_has_physical_location
- 14: 63830831-63769608 [NCIt concept]
gene_in_chromosomal_location
- 14q [NCIt concept]
gene_is_element_in_pathway
- Plasma Membrane Estrogen Receptor Signaling Pathway [NCIt concept]
gene_plays_role_in_process
- Cell Differentiation Process [NCIt concept]
- Cell Proliferation [NCIt concept]
- DNA Binding [NCIt concept]
- Homeostatic Process [NCIt concept]
- Ligand Binding [NCIt concept]
- Maturation [NCIt concept]
- Pattern Formation [NCIt concept]
- Receptor Signaling [NCIt concept]
- Signal Transduction [NCIt concept]
- Transcriptional Activation [NCIt concept]
- Transcriptional Regulation [NCIt concept]

Keyword's position in hierarchy(ies) :

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