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GenoLensGenoLens

NOS3

Chr 7q36.1

nitric oxide synthase 3

Aliases:
ECNOS, eNOS
MANE:
ENST00000297494.8

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

  • Cerebral vascular malformations

    BIALLELIC, autosomal or pseudoautosomal
  • Familial Meniere Disease

Disease associations (Open Targets)

  • hypertensive disorder

    0.46
  • essential hypertension

    0.43
  • myocardial infarction

    0.39
  • coronary artery disorder

    0.39
  • stroke disorder

    0.38
  • heart disorder

    0.35
  • myocardial ischemia

    0.34
  • primary ovarian failure

    0.33
  • cardiovascular disorder

    0.32
  • neurodegenerative disease

    0.32

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

Protein function (UniProt)

Nanos homolog 3

Plays a role in the maintenance of the undifferentiated state of germ cells regulating the spermatogonia cell cycle and inducing a prolonged transit in G1 phase. Affects cell proliferation probably by repressing translation of specific mRNAs. Maintains the germ cell lineage by suppressing both Bax-dependent and -independent apoptotic pathways. Essential in the early stage embryo to protect the migrating primordial germ cells (PGCs) from apoptosis

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.