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GenoLensGenoLens

NPNT

Chr 4q24

nephronectin

Aliases:
EGFL6L, POEM
MANE:
ENST00000379987.7

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

  • Fetal anomalies

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • chronic obstructive pulmonary disease

    0.56
  • asthma

    0.54
  • lower respiratory tract disorder

    0.44
  • respiratory system disorder

    0.44
  • hypertensive disorder

    0.42
  • essential hypertension

    0.38
  • major depressive disorder

    0.37
  • Chronic Obstructive Asthma

    0.36
  • COVID-19

    0.36
  • cardiovascular disorder

    0.35

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

Protein function (UniProt)

Nephronectin

Functional ligand of integrin alpha-8/beta-1 in kidney development. Regulates the expression of GDNF with integrin alpha-8/beta-1 which is essential for kidney development. May also play a role in the development and function of various tissues, regulating cell adhesion, spreading and survival through the binding of several integrins (By similarity)

Curated MONDO disease pages that list NPNT 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.