KCNJ8

Chr 12

potassium inwardly rectifying channel subfamily J member 8

Also known as: KIR6.1, uKATP-1

NCBI Gene: 3764 ENSG00000121361 UniProt: Q15842 OMIM: 600935

The protein functions as an inward-rectifier potassium channel that allows potassium to flow preferentially into cells and is regulated by G-proteins and internal ATP. Mutations cause J-wave syndromes and have been associated with sudden infant death syndrome (SIDS), with inheritance patterns not clearly established from available data. This gene shows moderate constraint against loss-of-function variants (LOEUF 0.575) and has a dedicated GeneReviews entry reflecting its clinical importance.

GeneReviews OMIM ResearchSummary from RefSeq, UniProt

Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel. The encoded protein, which has a greater tendency to allow potassium to flow into a cell rather than out of a cell, is controlled by G-proteins. Defects in this gene may be a cause of J-wave syndromes and sudden infant death syndrome (SIDS). [provided by RefSeq, May 2012]

GeneReviews OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtSudden infant death syndrome

UniProtHypertrichotic osteochondrodysplasia

Clinical highlights

Gene–disease validity (ClinGen)

Disputed · Brugada syndrome · AD · ClinGen 2025

evidence questions this relationship

Interpreting a novel variant

Gain of function is the curated mechanism (Gene2Phenotype), so a variant that simply removes the protein may not be the pathogenic class here — missense variants in functional domains often carry more weight.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

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LOEUF

GOF

Mechanism· G2P

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GeneReview available — KCNJ8