KCNJ8

Chr 12

potassium inwardly rectifying channel subfamily J member 8

Also known as: KIR6.1, uKATP-1

NCBI Gene: 3764ENSG00000121361UniProt: Q15842

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]

GeneReviewsResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtSudden infant death syndrome
UniProtHypertrichotic osteochondrodysplasia

Clinical highlights

Gene-disease validity (ClinGen)
Brugada syndrome · ADDisputedevidence 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.
0
Active trials
13
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.57
LOEUF
GOF
Mechanism· G2P
📖
GeneReview available — KCNJ8
Authoritative clinical overview · Recommended first read
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Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Missense constrained — critical functional residues
LoF Constraint?
0.57LOEUF
pLI 0.380
Z-score 2.64
OE 0.22 (0.10–0.57)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
3.45Z-score
OE missense 0.38 (0.32–0.45)
92 obs / 243.8 exp
Constrained

Highly missense-constrained (top ~0.1%)

Observed / Expected Ratios?
LoF OE?0.22 (0.10–0.57)
0≤0.351.4
Missense OE?0.38 (0.32–0.45)
0≤0.61.4
Synonymous OE?0.87
0≤1.21.6
LoF obs/exp: 3 / 13.5Missense obs/exp: 92 / 243.8Syn Z: 0.96

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

KCNJ8 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients