ESRRB wt Allele

Preferred Label : ESRRB wt Allele;

NCIt synonyms : Estrogen Related Receptor Beta wt Allele; ERR2; Deafness, Autosomal Recessive 35 Gene; ERRbeta; DFNB35; ERRb; NR3B2; Estrogen-Related Receptor, Beta Gene; ESRL2;

NCIt definition : Human ESRRB wild-type allele is located in the vicinity of 14q24.3 and is approximately 191 kb in length. This allele, which encodes steroid hormone receptor ERR2 protein, is involved in rod cell survival and inner ear development. Mutation of the gene is associated with autosomal recessive deafness type 35.;

NCI Metathesaurus CUI : CL538095;

GenBank Accession Number : X51417;

Details

Origin ID

C139918;

UMLS CUI

C4553170;

Automatic exact mappings (from CISMeF team)
- Estrogen-related receptor, beta [OMIM gene]
- autosomal recessive nonsyndromic deafness 35 [DO Concept]
- deafness, autosomal recessive 35 [MeSH Supplementary Concept]
- estrogen receptor beta [MeSH Descriptor]
- estrogen receptor-related receptor beta [MeSH Supplementary Concept]
- estrogen related receptor beta [ORDO Gene]
OMIM relation
- Estrogen-related receptor, beta [OMIM gene]
See also inter- (CISMeF)
- Deafness, autosomal recessive 35 [OMIM Phenotype]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 14q24.3 [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]
- Negative Regulation of Cell Differentiation [NCIt concept]
- Pattern Formation [NCIt concept]
- Receptor Signaling [NCIt concept]
- Transcriptional Regulation [NCIt concept]

Keyword's position in hierarchy(ies) :

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