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KCNJ11

Chr 11p15.1

potassium inwardly rectifying channel subfamily J member 11

Aliases:
Kir6.2, BIR
MANE:
ENST00000339994.5
OMIM: 600937 ↗NCBI: 3767 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Congenital hyperinsulinism

    BOTH monoallelic and biallelic, autosomal or pseudoautosomal

  • DDG2P

    BOTH monoallelic and biallelic, autosomal or pseudoautosomal

  • Diabetes with additional phenotypes suggestive of a monogenic aetiology

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

  • Early onset or syndromic epilepsy

    BOTH monoallelic and biallelic, autosomal or pseudoautosomal

  • Familial diabetes

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

  • Intellectual disability

    BOTH monoallelic and biallelic, autosomal or pseudoautosomal

  • Monogenic diabetes

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

  • Neonatal diabetes

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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Disease associations (Open Targets)

  • type 2 diabetes mellitus

    0.86

  • hyperinsulinemic hypoglycemia, familial, 2

    0.84

  • diabetes mellitus, permanent neonatal 2

    0.81

  • diabetes mellitus, transient neonatal, 3

    0.80

  • diabetes mellitus

    0.79

  • permanent neonatal diabetes mellitus

    0.73

  • transient neonatal diabetes mellitus

    0.72

  • MODY

    0.70

  • autosomal dominant hyperinsulinism due to Kir6.2 deficiency

    0.69

  • diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency

    0.69

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

Protein function (UniProt)

ATP-sensitive inward rectifier potassium channel 11

Inward rectifier potassium channel that forms the pore of ATP-sensitive potassium channels (KATP), regulating potassium permeability as a function of cytoplasmic ATP and ADP concentrations in many different cells (PubMed:29286281, PubMed:34815345). Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages. The inward rectification is mainly due to the blockage of outward current by internal magnesium. Can be blocked by extracellular barium (By similarity). In pancreatic cells, it forms KATP channels with ABCC8/SUR1 (PubMed:29286281, PubMed:34815345). Can form cardiac and smooth muscle-type KATP channels with ABCC9

Diseases associated with KCNJ11

Curated MONDO disease pages that list KCNJ11 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.