KCNJ2

Chr 17

potassium inwardly rectifying channel subfamily J member 2

Also known as: ATFB9, HHBIRK1, HHIRK1, IRK1, KIR2.1, LQT7, SQT3

NCBI Gene: 3759ENSG00000123700UniProt: P63252

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, probably participates in establishing action potential waveform and excitability of neuronal and muscle tissues. Mutations in this gene have been associated with Andersen syndrome, which is characterized by periodic paralysis, cardiac arrhythmias, and dysmorphic features. [provided by RefSeq, Jul 2008]

GeneReviewsResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtLong QT syndrome 7
UniProtShort QT syndrome 3
UniProtAtrial fibrillation, familial, 9

Clinical highlights

Gene-disease validity (ClinGen)
congenital heart disease · UDNo Known Disease Relationshipno established gene-disease relationship4 gene-disease associations curated in total
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.Curated gene-level mechanism — a prior for triage, not a per-variant call.
0
Active trials
51
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.61
LOEUF
Multiple*
Mechanism· predicted
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GeneReview available — KCNJ2
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
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.61LOEUF
pLI 0.307
Z-score 2.51
OE 0.24 (0.11–0.61)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
2.75Z-score
OE missense 0.50 (0.43–0.58)
121 obs / 240.9 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios?
LoF OE?0.24 (0.11–0.61)
0≤0.351.4
Missense OE?0.50 (0.43–0.58)
0≤0.61.4
Synonymous OE?1.13
0≤1.21.6
LoF obs/exp: 3 / 12.6Missense obs/exp: 121 / 240.9Syn Z: -0.95

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

KCNJ2 · 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