MYO7A

Chr 11ADAR

myosin VIIA

Also known as: DFNA11, DFNB2, MYOVIIA, MYU7A, NSRD2, USH1B

NCBI Gene: 4647ENSG00000137474UniProt: Q13402

This gene is a member of the myosin gene family. Myosins are mechanochemical proteins characterized by the presence of a motor domain, an actin-binding domain, a neck domain that interacts with other proteins, and a tail domain that serves as an anchor. This gene encodes an unconventional myosin with a very short tail. Defects in this gene are associated with the mouse shaker-1 phenotype and the human Usher syndrome 1B which are characterized by deafness, reduced vestibular function, and (in human) retinal degeneration. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008]

Primary Disease Associations & Inheritance

Deafness, autosomal dominant 11MIM #601317
AD
Deafness, autosomal recessive 2MIM #600060
AR
Usher syndrome, type 1BMIM #276900
AR
UniProtUsher syndrome 1B
0
ClinVar variants
0
Pathogenic / LP
0.00
pLI score
2
Active trials
Clinical Summary— MYO7A
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
💊
Clinical Trials
2 active or recruiting trials — potential therapeutic options may be available
Some data sources returned errors (1)

clinvarCount: Error: NCBI fetch failed: 429 https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esearch.fcgi

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
0.85LOEUF
pLI 0.000
Z-score 2.89
OE 0.70 (0.58–0.85)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
1.07Z-score
OE missense 0.92 (0.88–0.96)
1242 obs / 1353.0 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.70 (0.58–0.85)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.92 (0.88–0.96)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.1.04
0≤1.21.6
LoF obs/exp: 77 / 109.7Missense obs/exp: 1242 / 1353.0Syn Z: -0.75

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

MYO7A · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Gene2Phenotype Curations

MYO7A-related deafness

definitive
ARLoss Of FunctionAbsent Gene Product
Dev. DisordersEar
G2P ↗

MYO7A-related Usher syndrome

definitive
ARUndeterminedUncertain
Eye
G2P ↗

Gene2Phenotype curations · DECIPHER consortium patient cohort (public variants) · deciphergenomics.org

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM
MYOSIN VIIA; MYO7A
MIM #276903 · *

Deafness, autosomal dominant 11

MIM #601317

Molecular basis of disorder known

Autosomal dominant

Deafness, autosomal recessive 2

MIM #600060

Molecular basis of disorder known

Autosomal recessive

Usher syndrome, type 1B

MIM #276900

Molecular basis of disorder known

Autosomal recessive
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy.
Karali M et al.·Sci Rep
2022Cohort
Genetic screening of a Chinese cohort of children with hearing loss using a next-generation sequencing panel.
Ma J et al.·Hum Genomics
2023Cohort
Comprehensive Molecular Screening in Chinese Usher Syndrome Patients.
Sun T et al.·Invest Ophthalmol Vis Sci
2018Cohort
Global genetic insight contributed by consanguineous Pakistani families segregating hearing loss.
Richard EM et al.·Hum Mutat
2019
Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study.
Le Quesne Stabej P et al.·J Med Genet
2012
The prevalence and clinical features of MYO7A-related hearing loss including DFNA11, DFNB2 and USH1B.
Watanabe K et al.·Sci Rep
2024
The genetic and phenotypic landscapes of Usher syndrome: from disease mechanisms to a new classification.
Delmaghani S et al.·Hum Genet
2022Review
Myosins and Hearing.
Friedman TB et al.·Adv Exp Med Biol
2020Review
Ultrarare heterozygous pathogenic variants of genes causing dominant forms of early-onset deafness underlie severe presbycusis.
Boucher S et al.·Proc Natl Acad Sci U S A
2020
The Study of a 231 French Patient Cohort Significantly Extends the Mutational Spectrum of the Two Major Usher Genes MYO7A and USH2A.
Mansard L et al.·Int J Mol Sci
2021Clinical trial
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Analysis of Cytosine Base Editors in Bovine Zygotes: Efficiency and Editing Window Characterization Through Targeting the MYO7A Gene.
Ryu J et al.·Curr Issues Mol Biol
2025🔓 Open Access
Adeno-associated virus-based rescue of Myo7a expression restores hair-cell function and improves hearing thresholds in a USH1B mouse strain.
Amariutei AE et al.·J Physiol
2025🔓 Open AccessFunctional
[Analysis of pathogenic variant carriage for MYO7A, PCDH15, and CDH23 genes among newborns based on high-throughput sequencing technique].
Li Y et al.·Zhonghua Yi Xue Yi Chuan Xue Za Zhi
2025
Single-molecule fluorescence microscopy reveals regulatory mechanisms of MYO7A-driven cargo transport in stereocilia of live inner ear hair cells.
Miyoshi T et al.·Nat Commun
2025🔓 Open AccessFunctional
Case Report: A family of fluctuating cystoid macular edema caused by MYO7A gene mutations.
Duan C et al.·Front Med (Lausanne)
2025🔓 Open AccessCase report
Top 5 resultsSearch Europe PMC ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov
Usher Syndrome

Natural History of Photoreceptor Degeneration in USH1B: Clinical Parameters and Validation of Functional Vision Tests in MYO7A

RECRUITING
NCT07278843Centre Hospitalier National d'Ophtalmologie des Quinze-VingtsStarted 2025-10-13
Vision testsRetinal imagingQuestionnaires
Usher Syndrome, Type 1B

Study of Subretinally Injected AAVB-081 in Patients With Usher Syndrome Type IB (USH1B) Retinitis Pigmentosa

RECRUITING
NCT06591793Phase PHASE1, PHASE2AAVantgarde Bio SrlStarted 2024-07-02
AAVB-081

External Resources

Links to major genomics databases and tools