KCNJ9

Chr 1

potassium inwardly rectifying channel subfamily J member 9

Also known as: GIRK3, KIR3.3

NCBI Gene: 3765ENSG00000162728UniProt: Q92806OMIM: 600932

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. It associates with another G-protein-activated potassium channel to form a heteromultimeric pore-forming complex. [provided by RefSeq, Jul 2008]

OMIMResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant
This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.
0
Active trials
5
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.62
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Missense constrained — critical functional residues
LoF Constraint?
0.62LOEUF
pLI 0.301
Z-score 2.50
OE 0.24 (0.11–0.62)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
4.22Z-score
OE missense 0.26 (0.22–0.32)
69 obs / 261.0 exp
Constrained

Highly missense-constrained (top ~0.1%)

Observed / Expected Ratios?
LoF OE?0.24 (0.11–0.62)
0≤0.351.4
Missense OE?0.26 (0.22–0.32)
0≤0.61.4
Synonymous OE?0.75
0≤1.21.6
LoF obs/exp: 3 / 12.5Missense obs/exp: 69 / 261.0Syn Z: 2.18

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

KCNJ9 · 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