MYO6

Chr 6

myosin VI

Also known as: DFNA22, DFNB37

NCBI Gene: 4646ENSG00000196586UniProt: Q9UM54

This gene encodes a reverse-direction motor protein that moves toward the minus end of actin filaments and plays a role in intracellular vesicle and organelle transport. The protein consists of a motor domain containing an ATP- and an actin-binding site and a globular tail which interacts with other proteins. This protein maintains the structural integrity of inner ear hair cells and mutations in this gene cause non-syndromic autosomal dominant and recessive hearing loss. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2014]

GeneReviewsResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtDeafness, autosomal dominant, 22
UniProtDeafness, autosomal recessive, 37
UniProtDeafness, autosomal dominant 22, with hypertrophic cardiomyopathy

Clinical highlights

Gene-disease validity (ClinGen)
nonsyndromic genetic hearing loss · ADDefinitivesufficient evidence for diagnostic panels
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.Curated gene-level mechanism — a prior for triage, not a per-variant call.
0
Active trials
34
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.42
LOEUF
Multiple*
Mechanism· predicted
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GeneReview available — MYO6
Authoritative clinical overview · Recommended first read
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Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint?
0.42LOEUF
pLI 0.000
Z-score 5.92
OE 0.30 (0.22–0.42)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
1.39Z-score
OE missense 0.85 (0.79–0.91)
586 obs / 688.6 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.30 (0.22–0.42)
0≤0.351.4
Missense OE?0.85 (0.79–0.91)
0≤0.61.4
Synonymous OE?0.95
0≤1.21.6
LoF obs/exp: 25 / 83.4Missense obs/exp: 586 / 688.6Syn Z: 0.59

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

MYO6 · 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