KLHL30

Chr 2

kelch like family member 30

NCBI Gene: 377007ENSG00000168427UniProt: Q0D2K2

Predicted to enable ubiquitin-like ligase-substrate adaptor activity. Predicted to be involved in proteasome-mediated ubiquitin-dependent protein catabolic process. Predicted to be part of Cul3-RING ubiquitin ligase complex. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…
0
Active trials
0
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.22
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.22LOEUF
pLI 0.000
Z-score 0.76
OE 0.82 (0.57–1.22)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.51Z-score
OE missense 0.92 (0.84–1.01)
334 obs / 361.1 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.82 (0.57–1.22)
0≤0.351.4
Missense OE?0.92 (0.84–1.01)
0≤0.61.4
Synonymous OE?0.95
0≤1.21.6
LoF obs/exp: 18 / 21.9Missense obs/exp: 334 / 361.1Syn Z: 0.52

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

KLHL30 · 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