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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
MYO15A
myosin XVA
Chromosome 17 Β· 17p11.2
NCBI Gene: 51168Ensembl: ENSG00000091536.20HGNC: HGNC:7594UniProt: Q9UKN7
75PubMed Papers
21Diseases
0Drugs
714Pathogenic Variants
RESEARCH IMPACT
Variant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
extracellular exosomemicrofilament motor activityactin filament bindingendocytosishearing loss, autosomal recessivedeafnessnonsyndromic genetic hearing lossautosomal dominant nonsyndromic hearing loss
✦AI Summary

MYO15A encodes myosin XVA, an unconventional myosin motor protein with ATPase activity that functions as an actin-based motor molecule 1. The protein is essential for organizing stereocilia in mature hair bundles of the inner ear, where it binds actin filaments and facilitates actin-based cellular projections critical for mechanotransduction 1. MYO15A mutations cause autosomal recessive non-syndromic sensorineural hearing loss (NSHL), classified as deafness autosomal recessive 3 (DFNB3) 1. Clinically, MYO15A ranks among the most common deafness genes globally, accounting for 3.58% of Chinese NSHL cases and appearing among the top five causative genes in multiple populations including Japanese, Chinese, and Taiwanese cohorts 123. Pathogenic variants predominantly cause early-onset, bilateral, symmetric, severe-to-profound hearing loss, typically congenital in presentation 1. Notably, biallelic non-truncating variants commonly result in profound hearing loss, while variants affecting the N-terminal, motor, and FERM domains may produce partial deafness with preserved low-frequency hearing 1. Additionally, MYO15A variants have been implicated in age-related hearing loss pathways involving apoptosis and oxidative stress mechanisms 4. The high prevalence of novel variants (76.47% in one cohort) underscores significant genetic heterogeneity requiring population-specific molecular screening strategies 1.

Sources cited
1
MYO15A mutations cause NSHL; genotype-phenotype correlations with disease severity, age of onset; accounts for 3.58% of Chinese NSHL cases; variant types and domain-specific effects
PMID: 35346193
2
MYO15A identified as major gene in Japanese deafness cohort using targeted exon sequencing; ranked among top genes by mutation frequency
PMID: 23967202
3
MYO15A among top five most common deafness genes in Taiwanese population alongside GJB2, SLC26A4, OTOF, and MTRNR1
PMID: 31581539
4
MYO15A identified as one of most common genes containing pathogenic variants in Chinese deaf cohort with 48.7% detection rate across 98 deafness genes
PMID: 36597107
5
MYO15A listed among uncommon but important hearing loss genes in large Chinese cohort with 57.25% diagnostic rate
PMID: 35982127
6
MYO15A identified as nonsyndromic hearing loss gene in comprehensive molecular screening including Usher syndrome patients
PMID: 29625443
7
MYO15A included as candidate gene in targeted next-generation sequencing panel for Usher syndrome diagnosis
PMID: 25404053
8
MYO15A highlighted as representative target involved in auditory processes and age-related hearing loss pathways involving apoptosis and oxidative stress
PMID: 40499729
Disease Associationsβ“˜21
hearing loss, autosomal recessiveOpen Targets
0.74Strong
deafnessOpen Targets
0.69Moderate
nonsyndromic genetic hearing lossOpen Targets
0.64Moderate
autosomal dominant nonsyndromic hearing lossOpen Targets
0.58Moderate
Rare genetic deafnessOpen Targets
0.57Moderate
Hearing impairmentOpen Targets
0.54Moderate
genetic disorderOpen Targets
0.53Moderate
Abnormality of the earOpen Targets
0.49Moderate
ear malformationOpen Targets
0.49Moderate
Intellectual disabilityOpen Targets
0.43Moderate
Congenital sensorineural hearing impairmentOpen Targets
0.42Moderate
substance-related disorderOpen Targets
0.41Moderate
Non-syndromic genetic deafnessOpen Targets
0.39Weak
hypertensionOpen Targets
0.35Weak
essential hypertensionOpen Targets
0.34Weak
sensorineural hearing lossOpen Targets
0.34Weak
Sensorineural hearing impairmentOpen Targets
0.34Weak
neurodegenerative diseaseOpen Targets
0.30Weak
hair colorOpen Targets
0.29Weak
autosomal recessive nonsyndromic hearing loss 9Open Targets
0.28Weak
Deafness, autosomal recessive, 3UniProt
Pathogenic Variants714
NM_016239.4(MYO15A):c.4642G>A (p.Ala1548Thr)Likely pathogenic
not specified|not provided|Autosomal recessive nonsyndromic hearing loss 3|MYO15A-related disorder
β˜…β˜…β˜…β˜†2025β†’ Residue 1548
NM_016239.4(MYO15A):c.9517+2T>CLikely pathogenic
Rare genetic deafness|Autosomal recessive nonsyndromic hearing loss 3|Nonsyndromic genetic hearing loss|Hearing impairment
β˜…β˜…β˜…β˜†2024
NM_016239.4(MYO15A):c.996C>G (p.Tyr332Ter)Pathogenic
Rare genetic deafness|Autosomal recessive nonsyndromic hearing loss 3|not provided|Nonsyndromic genetic hearing loss
β˜…β˜…β˜…β˜†2024β†’ Residue 332
NM_016239.4(MYO15A):c.6337A>T (p.Ile2113Phe)Likely pathogenic
Autosomal recessive nonsyndromic hearing loss 3|Nonsyndromic genetic hearing loss|not provided
β˜…β˜…β˜…β˜†2024β†’ Residue 2113
NM_016239.4(MYO15A):c.1137del (p.Tyr380fs)Likely pathogenic
not provided|Autosomal recessive nonsyndromic hearing loss 3|Rare genetic deafness|Hearing impairment|Nonsyndromic genetic hearing loss
β˜…β˜…β˜…β˜†2024β†’ Residue 380
NM_016239.4(MYO15A):c.4176C>A (p.Tyr1392Ter)Pathogenic
not provided|Nonsyndromic genetic hearing loss|Autosomal recessive nonsyndromic hearing loss 3
β˜…β˜…β˜…β˜†2021β†’ Residue 1392
NM_016239.4(MYO15A):c.10045C>T (p.Gln3349Ter)Pathogenic
Rare genetic deafness|Inborn genetic diseases|Nonsyndromic genetic hearing loss
β˜…β˜…β˜…β˜†2021β†’ Residue 3349
NM_016239.4(MYO15A):c.1171_1177dup (p.Tyr393fs)Pathogenic
Autosomal recessive nonsyndromic hearing loss 3|Nonsyndromic genetic hearing loss|Rare genetic deafness
β˜…β˜…β˜…β˜†2021β†’ Residue 393
NM_016239.4(MYO15A):c.4198G>A (p.Val1400Met)Pathogenic
Autosomal recessive nonsyndromic hearing loss 3|Rare genetic deafness|not provided|Nonsyndromic genetic hearing loss
β˜…β˜…β˜…β˜†2021β†’ Residue 1400
NM_016239.4(MYO15A):c.6764+2T>APathogenic
not provided|Autosomal recessive nonsyndromic hearing loss 3|Rare genetic deafness
β˜…β˜…β˜†β˜†2026
NM_016239.4(MYO15A):c.3866+1G>APathogenic
not provided|Autosomal recessive nonsyndromic hearing loss 3
β˜…β˜…β˜†β˜†2026
NM_016239.4(MYO15A):c.4777G>A (p.Glu1593Lys)Pathogenic
not specified|not provided|Autosomal recessive nonsyndromic hearing loss 3|Monogenic hearing loss
β˜…β˜…β˜†β˜†2026β†’ Residue 1593
NM_016239.4(MYO15A):c.6893G>A (p.Arg2298Gln)Pathogenic
Nonsyndromic genetic hearing loss|Autosomal recessive nonsyndromic hearing loss 3
β˜…β˜…β˜†β˜†2026β†’ Residue 2298
NM_016239.4(MYO15A):c.8065del (p.Trp2689fs)Pathogenic
not provided
β˜…β˜…β˜†β˜†2026β†’ Residue 2689
NM_016239.4(MYO15A):c.9861C>T (p.Gly3287=)Pathogenic
Rare genetic deafness|Autosomal recessive nonsyndromic hearing loss 3|not provided|MYO15A-related disorder
β˜…β˜…β˜†β˜†2026β†’ Residue 3287
NM_016239.4(MYO15A):c.2419C>T (p.Gln807Ter)Pathogenic
not provided|Autosomal recessive nonsyndromic hearing loss 3
β˜…β˜…β˜†β˜†2026β†’ Residue 807
NM_016239.4(MYO15A):c.3385C>T (p.Arg1129Ter)Pathogenic
Rare genetic deafness|not provided|Autosomal recessive nonsyndromic hearing loss 3
β˜…β˜…β˜†β˜†2026β†’ Residue 1129
NM_016239.4(MYO15A):c.7124_7127del (p.Asp2375fs)Pathogenic
Autosomal recessive nonsyndromic hearing loss 3|Rare genetic deafness|Congenital sensorineural hearing impairment|not provided|MYO15A-related disorder|Intellectual disability
β˜…β˜…β˜†β˜†2026β†’ Residue 2375
NM_016239.4(MYO15A):c.2629G>T (p.Glu877Ter)Pathogenic
not provided|Autosomal recessive nonsyndromic hearing loss 3
β˜…β˜…β˜†β˜†2025β†’ Residue 877
NM_016239.4(MYO15A):c.10573del (p.Ser3525fs)Pathogenic
Autosomal recessive nonsyndromic hearing loss 3|not provided|MYO15A-related disorder
β˜…β˜…β˜†β˜†2025β†’ Residue 3525
View on ClinVar β†—
Related Genes
TRIOBPProtein interaction100%GPSM2Protein interaction100%USH1GProtein interaction100%PCDH15Protein interaction99%ADGRV1Protein interaction99%EPS8L2Protein interaction95%
Tissue Expression6 tissues
Ovary
100%
Liver
63%
Lung
19%
Bone Marrow
16%
Brain
15%
Heart
9%
Gene Interaction Network
Click a node to explore
MYO15ATRIOBPGPSM2USH1GPCDH15ADGRV1EPS8L2
PROTEIN STRUCTURE
Preparing viewer…
PDB6KZ1 Β· 1.69 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.89LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.81 [0.74–0.89]
RankingsWhere MYO15A stands among ~20K protein-coding genes
  • #6,348of 20,598
    Most Researched75
  • #66of 5,498
    Most Pathogenic Variants714 Β· top 5%
  • #7,958of 17,882
    Most Constrained (LOEUF)0.89
Genes detectedMYO15A
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Genetic screening of a Chinese cohort of children with hearing loss using a next-generation sequencing panel.
PMID: 36597107
Hum Genomics Β· 2023
1.00
2
Comprehensive Molecular Screening in Chinese Usher Syndrome Patients.
PMID: 29625443
Invest Ophthalmol Vis Sci Β· 2018
0.90
3
Targeted exon sequencing successfully discovers rare causative genes and clarifies the molecular epidemiology of Japanese deafness patients.
PMID: 23967202
PLoS One Β· 2013
0.80
4
Analysis of the genotype-phenotype correlation of MYO15A variants in Chinese non-syndromic hearing loss patients.
PMID: 35346193
BMC Med Genomics Β· 2022
0.70
5
Targeted next generation sequencing for molecular diagnosis of Usher syndrome.
PMID: 25404053
Orphanet J Rare Dis Β· 2014
0.60