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GenoLensGenoLens

INS

Chr 11p15.5

insulin

MANE:
ENST00000381330.5

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Diabetes with additional phenotypes suggestive of a monogenic aetiology

    BOTH monoallelic and biallelic, autosomal or pseudoautosomal
  • Familial diabetes

    BOTH monoallelic and biallelic, autosomal or pseudoautosomal
  • Monogenic diabetes

    BOTH monoallelic and biallelic, autosomal or pseudoautosomal
  • Neonatal diabetes

    BOTH monoallelic and biallelic, autosomal or pseudoautosomal
  • Multi-organ autoimmune diabetes

    BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • diabetes mellitus, permanent neonatal 4

    0.78
  • hyperproinsulinemia

    0.74
  • MODY

    0.74
  • type 1 diabetes mellitus

    0.69
  • permanent neonatal diabetes mellitus

    0.68
  • maturity-onset diabetes of the young type 10

    0.68
  • diabetes mellitus

    0.59
  • monogenic diabetes

    0.56
  • type 2 diabetes mellitus

    0.52
  • transient neonatal diabetes, dominant/recessive

    0.51

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

Protein function (UniProt)

Insulin

Insulin decreases blood glucose concentration. It increases cell permeability to monosaccharides, amino acids and fatty acids. It accelerates glycolysis, the pentose phosphate cycle, and glycogen synthesis in liver

Curated MONDO disease pages that list INS 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.