KANK4

Chr 1

KN motif and ankyrin repeat domains 4

Also known as: ANKRD38, dJ1078M7.1

NCBI Gene: 163782ENSG00000132854UniProt: Q5T7N3OMIM: 614612

Predicted to be involved in negative regulation of actin filament polymerization. Located in cytoplasm. [provided by Alliance of Genome Resources, Jun 2026]

OMIMResearchGenerating clinical summary…
0
Active trials
5
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.80
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.80LOEUF
pLI 0.000
Z-score 2.51
OE 0.55 (0.39–0.80)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.20Z-score
OE missense 0.98 (0.91–1.05)
541 obs / 554.4 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.55 (0.39–0.80)
0≤0.351.4
Missense OE?0.98 (0.91–1.05)
0≤0.61.4
Synonymous OE?0.93
0≤1.21.6
LoF obs/exp: 20 / 36.3Missense obs/exp: 541 / 554.4Syn Z: 0.79

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

KANK4 · 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