KLHL8

Chr 4

kelch like family member 8

NCBI Gene: 57563ENSG00000145332UniProt: Q9P2G9OMIM: 611967

Predicted to enable ubiquitin-like ligase-substrate adaptor activity. Involved in protein ubiquitination and ubiquitin-dependent protein catabolic process. Located in nucleoplasm. Part of Cul3-RING ubiquitin ligase complex. [provided by Alliance of Genome Resources, Jul 2025]

OMIMResearchGenerating clinical summary…
0
Active trials
5
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.74
LOEUF
DN
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.74LOEUF
pLI 0.000
Z-score 2.63
OE 0.48 (0.31–0.74)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
2.23Z-score
OE missense 0.66 (0.59–0.74)
222 obs / 337.0 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios?
LoF OE?0.48 (0.31–0.74)
0≤0.351.4
Missense OE?0.66 (0.59–0.74)
0≤0.61.4
Synonymous OE?0.88
0≤1.21.6
LoF obs/exp: 14 / 29.4Missense obs/exp: 222 / 337.0Syn Z: 1.01

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

KLHL8 · 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