ANKRD6

Chr 6

ankyrin repeat domain 6

NCBI Gene: 22881ENSG00000135299UniProt: Q9Y2G4

Predicted to be involved in establishment or maintenance of cell polarity and regulation of Wnt signaling pathway. Predicted to act upstream of or within negative regulation of canonical Wnt signaling pathway and positive regulation of Wnt signaling pathway, planar cell polarity pathway. Predicted to be located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Jun 2026]

ResearchGenerating clinical summary…
0
Active trials
1
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.91
LOEUF
DN
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.91LOEUF
pLI 0.000
Z-score 2.00
OE 0.64 (0.46–0.91)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.74Z-score
OE missense 0.90 (0.82–0.98)
364 obs / 406.1 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.64 (0.46–0.91)
0≤0.351.4
Missense OE?0.90 (0.82–0.98)
0≤0.61.4
Synonymous OE?0.91
0≤1.21.6
LoF obs/exp: 23 / 35.9Missense obs/exp: 364 / 406.1Syn Z: 0.95

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

ANKRD6 · 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