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NRG3

Chr 10q23.1

neuregulin 3

MANE:
ENST00000372141.7

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

  • Familial Hirschsprung Disease

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

  • cancer

    0.58
  • alcohol drinking

    0.37
  • neurodegenerative disease

    0.37
  • Hirschsprung disease

    0.35
  • respiratory tract infectious disorder

    0.35
  • jaw disease

    0.33
  • gastrointestinal disease

    0.31
  • Aganglionic megacolon

    0.31
  • systemic lupus erythematosus

    0.31
  • smoking initiation

    0.30

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

Protein function (UniProt)

Pro-neuregulin-3, membrane-bound isoform

Direct ligand for the ERBB4 tyrosine kinase receptor. Binding results in ligand-stimulated tyrosine phosphorylation and activation of the receptor. Does not bind to the EGF receptor, ERBB2 or ERBB3 receptors. May be a survival factor for oligodendrocytes

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.