Estrogen Receptor 2

Alternative Names

  • ESR2
  • Estrogen Receptor, Beta
  • ESRB
  • ESR-Beta
  • ER-Beta

Associated Diseases

Spermatogenic Failure 1
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OMIM Number

601663

NCBI Gene ID

2100

Uniprot ID

Q92731

Length

111,907 bases

No. of Exons

17

No. of isoforms

9

Protein Name

Estrogen receptor beta

Molecular Mass

59216 Da

Amino Acid Count

530

Genomic Location

chr14:64,226,707-64,338,613

Gene Map Locus
14q23.2-q23.3

Description

This gene encodes a member of the family of estrogen receptors and superfamily of nuclear receptor transcription factors. The gene product contains an N-terminal DNA binding domain and C-terminal ligand binding domain and is localized to the nucleus, cytoplasm, and mitochondria. Upon binding to 17beta-estradiol or related ligands, the encoded protein forms homo- or hetero-dimers that interact with specific DNA sequences to activate transcription. Some isoforms dominantly inhibit the activity of other estrogen receptor family members. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been fully characterized. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_001437.3:c.602G>TSaudi ArabiaNC_000014.9:g.64268845C>ALikely PathogenicSpermatogenic Failure 1NG_011535.1:g.74706G>T; NM_001437.3:c.602G>T; NP_001428.1:p.Cys201Phe
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