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NR2F2

Chr 15q26.2

nuclear receptor subfamily 2 group F member 2

Aliases:
COUP-TFII, COUPTFB, SVP40, NF-E3, COUPTF2
MANE:
ENST00000394166.8

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • DDG2P

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Differences in sex development

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • Familial non syndromic congenital heart disease

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • Fetal anomalies

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Intellectual disability

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

  • congenital heart defects, multiple types, 4

    0.75
  • 46,xx sex reversal 5

    0.61
  • neurodegenerative disease

    0.54
  • familial atrioventricular septal defect

    0.51
  • hereditary disease

    0.50
  • smoking initiation

    0.44
  • congenital heart disease

    0.34
  • intelligence

    0.34
  • testicular disorder

    0.33
  • mathematical ability

    0.33

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

Protein function (UniProt)

COUP transcription factor 2

Ligand-activated transcription factor. Activated by high concentrations of 9-cis-retinoic acid and all-trans-retinoic acid, but not by dexamethasone, cortisol or progesterone (in vitro). Regulation of the apolipoprotein A-I gene transcription. Binds to DNA site A. May be required to establish ovary identity during early gonad development (PubMed:29478779)

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.