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GenoLensGenoLens

NGF

Chr 1p13.2

nerve growth factor

MANE:
ENST00000369512.3

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Familial dysautonomia

    BIALLELIC, autosomal or pseudoautosomal
  • Hereditary neuropathy

    BIALLELIC, autosomal or pseudoautosomal
  • Hereditary neuropathy or pain disorder

    BIALLELIC, autosomal or pseudoautosomal
  • Pain syndromes

    BIALLELIC, autosomal or pseudoautosomal
  • Intellectual disability

  • Paroxysmal central nervous system disorders

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • hereditary sensory and autonomic neuropathy type 5

    0.78
  • osteoarthritis, knee

    0.55
  • hypertensive disorder

    0.53
  • Pain

    0.51
  • osteoarthritis

    0.50
  • angina pectoris

    0.49
  • spinal stenosis

    0.49
  • osteoarthritis, hip

    0.49
  • essential hypertension

    0.48
  • coronary artery disorder

    0.48

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

Protein function (UniProt)

Beta-nerve growth factor

Nerve growth factor is important for the development and maintenance of the sympathetic and sensory nervous systems (PubMed:14976160, PubMed:20978020). Extracellular ligand for the NTRK1 and NGFR receptors, activates cellular signaling cascades to regulate neuronal proliferation, differentiation and survival (Probable) (PubMed:20978020). The immature NGF precursor (proNGF) functions as a ligand for the heterodimeric receptor formed by SORCS2 and NGFR, and activates cellular signaling cascades that lead to inactivation of RAC1 and/or RAC2, reorganization of the actin cytoskeleton and neuronal growth cone collapse. In contrast to mature NGF, the precursor form (proNGF) promotes neuronal apoptosis (in vitro) (By similarity). Inhibits metalloproteinase-dependent proteolysis of platelet glycoprotein VI (PubMed:20164177). Binds lysophosphatidylinositol and lysophosphatidylserine between the two chains of the homodimer. The lipid-bound form promotes histamine relase from mast cells, contrary to the lipid-free form (By similarity)

Curated MONDO disease pages that list NGF among their top associated genes.

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.