KLHL5

Chr 4

kelch like family member 5

NCBI Gene: 51088ENSG00000109790UniProt: Q96PQ7OMIM: 608064

Predicted to enable ubiquitin-like ligase-substrate adaptor activity. Predicted to be involved in proteasome-mediated ubiquitin-dependent protein catabolic process. Located in microtubule cytoskeleton. Implicated in cocaine dependence. [provided by Alliance of Genome Resources, Jun 2026]

OMIMResearchGenerating clinical summary…
0
Active trials
6
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.66
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.66LOEUF
pLI 0.000
Z-score 3.15
OE 0.43 (0.28–0.66)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
1.94Z-score
OE missense 0.73 (0.66–0.80)
301 obs / 412.0 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.43 (0.28–0.66)
0≤0.351.4
Missense OE?0.73 (0.66–0.80)
0≤0.61.4
Synonymous OE?0.96
0≤1.21.6
LoF obs/exp: 15 / 35.2Missense obs/exp: 301 / 412.0Syn Z: 0.34

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

KLHL5 · 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