KCNK5

Chr 6

potassium two pore domain channel subfamily K member 5

Also known as: K2p5.1, KCNK5b, TASK-2, TASK2

NCBI Gene: 8645ENSG00000164626UniProt: O95279

This gene encodes one of the members of the superfamily of potassium channel proteins containing two pore-forming P domains. The message for this gene is mainly expressed in the cortical distal tubules and collecting ducts of the kidney. The protein is highly sensitive to external pH and this, in combination with its expression pattern, suggests it may play an important role in renal potassium transport. [provided by RefSeq, Jul 2008]

ResearchGenerating 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
15
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.53
LOEUF
Multiple*
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint?
0.53LOEUF
pLI 0.325
Z-score 2.95
OE 0.23 (0.11–0.53)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
1.97Z-score
OE missense 0.68 (0.60–0.76)
203 obs / 298.6 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.23 (0.11–0.53)
0≤0.351.4
Missense OE?0.68 (0.60–0.76)
0≤0.61.4
Synonymous OE?1.03
0≤1.21.6
LoF obs/exp: 4 / 17.2Missense obs/exp: 203 / 298.6Syn Z: -0.28

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

KCNK5 · 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