KLHL4

Chr X

kelch like family member 4

Also known as: DKELCHL, KHL4

NCBI Gene: 56062ENSG00000102271UniProt: Q9C0H6OMIM: 300348

This gene encodes a member of the kelch family of proteins, which are characterized by kelch repeat motifs and a POZ/BTB protein-binding domain. It is thought that kelch repeats are actin binding domains. However, the specific function of this protein has not been determined. Alternative splicing of this gene results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

OMIMResearchGenerating 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
6
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.44
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint?
0.44LOEUF
pLI 0.663
Z-score 3.44
OE 0.19 (0.09–0.44)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
0.89Z-score
OE missense 0.84 (0.76–0.94)
220 obs / 260.5 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.19 (0.09–0.44)
0≤0.351.4
Missense OE?0.84 (0.76–0.94)
0≤0.61.4
Synonymous OE?1.12
0≤1.21.6
LoF obs/exp: 4 / 21.0Missense obs/exp: 220 / 260.5Syn Z: -0.90

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

KLHL4 · 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