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ESR2

Chr 14q23.2-q23.3

estrogen receptor 2

Aliases:
NR3A2, Erb, ER-beta
MANE:
ENST00000341099.6

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

  • Differences in sex development

    BOTH monoallelic and biallelic, autosomal or pseudoautosomal
  • Familial Meniere Disease

  • Monogenic hearing loss

Disease associations (Open Targets)

  • breast cancer

    0.62
  • osteoporosis

    0.61
  • postmenopausal osteoporosis

    0.58
  • menopause

    0.57
  • Dyspareunia

    0.56
  • Atrophy

    0.55
  • neoplasm

    0.49
  • breast carcinoma

    0.49
  • primary ovarian failure

    0.48
  • hypogonadism

    0.47

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Estrogen receptor beta

Nuclear hormone receptor. Binds estrogens with an affinity similar to that of ESR1/ER-alpha, and activates expression of reporter genes containing estrogen response elements (ERE) in an estrogen-dependent manner (PubMed:20074560)

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.