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KCNJ16

Chr 17q24.3

potassium inwardly rectifying channel subfamily J member 16

Aliases:
Kir5.1, BIR9
MANE:
ENST00000392671.6

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Monogenic hearing loss

    BIALLELIC, autosomal or pseudoautosomal
  • Renal tubulopathies

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • hypokalemic tubulopathy and deafness

    0.71
  • Abnormality of the skeletal system

    0.35
  • facial morphology

    0.30
  • Sjogren syndrome

    0.30
  • bipolar disorder

    0.30
  • Snoring

    0.29
  • poisoning

    0.27
  • epilepsy

    0.24
  • auditory system disorder

    0.22
  • breast disorder

    0.21

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

Protein function (UniProt)

Inward rectifier potassium channel 16

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. KCNJ16 may be involved in the regulation of fluid and pH balance. In the kidney, together with KCNJ10, mediates basolateral K(+) recycling in distal tubules; this process is critical for Na(+) reabsorption at the tubules (PubMed:24561201)

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.