MYO3A Gene

HGNC Family	Myosins (MYH, MYO)
Name	myosin IIIA
Description	The protein encoded by this gene belongs to the myosin superfamily. Myosins are actin-dependent motor proteins and are categorized into conventional myosins (class II) and unconventional myosins (classes I and III through XV) based on their variable C-terminal cargo-binding domains. Class III myosins, such as this one, have a kinase domain N-terminal to the conserved N-terminal motor domains and are expressed in photoreceptors. The protein encoded by this gene plays an important role in hearing in humans. Three different recessive, loss of function mutations in the encoded protein have been shown to cause nonsyndromic progressive hearing loss. Expression of this gene is highly restricted, with the strongest expression in retina and cochlea. [provided by RefSeq, Jul 2008]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\nMYO3A is a unique member of the class III myosin family that plays an essential role in sensory systems such as the retina and inner ear. It is characterized by a distinctive domain architecture comprising an N‐terminal kinase domain, a highly conserved motor domain with two IQ motifs, and a C‐terminal actin-binding region. Studies have demonstrated that MYO3A functions as an actin‐based motor protein, exhibiting a relatively slow maximum actin-activated ATPase rate and high actin affinity. These kinetic features, including distinct rate-determining transitions in its ATPase cycle, are critical for its role in transporting cargos to the distal tips of actin-based protrusions, such as filopodia and stereocilia, thereby contributing to processes like phototransduction and auditory perception."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "5"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nIn addition to its motor function, the N-terminal kinase domain of MYO3A confers autoregulatory properties through autophosphorylation. This modification modulates enzymatic activity by reducing maximal ATPase rates and altering the affinity of the motor domain for actin, thereby fine-tuning its transport efficiency and subcellular localization. Such regulatory mechanisms are critical for ensuring that MYO3A is precisely targeted to, and functions appropriately within, actin-rich cellular structures of sensory cells."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "6", "end_ref": "8"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nAt the cellular level, MYO3A is central to the formation and maintenance of actin-based protrusions in sensory cells. Its interaction with actin-bundling proteins such as Espin promotes the elongation and stabilization of stereocilia—critical for mechanotransduction in cochlear hair cells—and regulates filopodia dynamics. Genetic investigations have revealed that mutations in either the motor or kinase domain of MYO3A can disrupt its kinetic properties and cargo transport function, leading to altered localization within actin protrusions and aberrant regulation of actin bundle assembly. Clinically, such mutations have been linked to various forms of sensorineural hearing loss, ranging from congenital profound deficits to late-onset progressive impairment, underscoring the protein’s essential role in auditory function."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "9", "end_ref": "17"}]}, {"type": "t", "text": "\n"}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Tom Walsh, Vanessa Walsh, Sarah Vreugde, et al. "}, {"type": "b", "children": [{"type": "t", "text": "From flies' eyes to our ears: mutations in a human class III myosin cause progressive nonsyndromic hearing loss DFNB30."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Proc Natl Acad Sci U S A (2002)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1073/pnas.102091699"}], "href": "https://doi.org/10.1073/pnas.102091699"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "12032315"}], "href": "https://pubmed.ncbi.nlm.nih.gov/12032315"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Shigeru Komaba, Akira Inoue, Shinsaku Maruta, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Determination of human myosin III as a motor protein having a protein kinase activity."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (2003)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1074/jbc.M300757200"}], "href": "https://doi.org/10.1074/jbc.M300757200"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "12672820"}], "href": "https://pubmed.ncbi.nlm.nih.gov/12672820"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Taketoshi Kambara, Shigeru Komaba, Mitsuo Ikebe "}, {"type": "b", "children": [{"type": "t", "text": "Human myosin III is a motor having an extremely high affinity for actin."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (2006)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1074/jbc.M603823200"}], "href": "https://doi.org/10.1074/jbc.M603823200"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17012748"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17012748"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Andréa C Dosé, Shobana Ananthanarayanan, Judy E Moore, et al. 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"}, {"type": "b", "children": [{"type": "t", "text": "The kinase domain alters the kinetic properties of the myosin IIIA motor."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Biochemistry (2008)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1021/bi7021574"}], "href": "https://doi.org/10.1021/bi7021574"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "18229949"}], "href": "https://pubmed.ncbi.nlm.nih.gov/18229949"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Omar A Quintero, Judy E Moore, William C Unrath, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Intermolecular autophosphorylation regulates myosin IIIa activity and localization in parallel actin bundles."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (2010)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1074/jbc.M110.144360"}], "href": "https://doi.org/10.1074/jbc.M110.144360"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "20826793"}], "href": "https://pubmed.ncbi.nlm.nih.gov/20826793"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Omar A Quintero, William C Unrath, Stanley M Stevens, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Myosin 3A kinase activity is regulated by phosphorylation of the kinase domain activation loop."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1074/jbc.M113.511014"}], "href": "https://doi.org/10.1074/jbc.M113.511014"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "24214986"}], "href": "https://pubmed.ncbi.nlm.nih.gov/24214986"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "Byung Chull An, Tsuyoshi Sakai, Shigeru Komaba, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Phosphorylation of the kinase domain regulates autophosphorylation of myosin IIIA and its translocation in microvilli."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Biochemistry (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1021/bi501247z"}], "href": "https://doi.org/10.1021/bi501247z"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "25402663"}], "href": "https://pubmed.ncbi.nlm.nih.gov/25402663"}]}, {"type": "r", "ref": 9, "children": [{"type": "t", "text": "Haiyang Liu, Jianchao Li, Manmeet H Raval, et al. 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"}, {"type": "b", "children": [{"type": "t", "text": "MYO3A Causes Human Dominant Deafness and Interacts with Protocadherin 15-CD2 Isoform."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Mutat (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/humu.22961"}], "href": "https://doi.org/10.1002/humu.22961"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "26841241"}], "href": "https://pubmed.ncbi.nlm.nih.gov/26841241"}]}, {"type": "r", "ref": 11, "children": [{"type": "t", "text": "Manmeet H Raval, Omar A Quintero, Meredith L Weck, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Impact of the Motor and Tail Domains of Class III Myosins on Regulating the Formation and Elongation of Actin Protrusions."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1074/jbc.M116.733741"}], "href": "https://doi.org/10.1074/jbc.M116.733741"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "27582493"}], "href": "https://pubmed.ncbi.nlm.nih.gov/27582493"}]}, {"type": "r", "ref": 12, "children": [{"type": "t", "text": "Huiyuan Hou, Fan Gao, Hongliang Liang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "MicroRNA-188-5p regulates contribution of bone marrow-derived cells to choroidal neovascularization development by targeting MMP-2/13."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Exp Eye Res (2018)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.exer.2018.06.010"}], "href": "https://doi.org/10.1016/j.exer.2018.06.010"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "29908885"}], "href": "https://pubmed.ncbi.nlm.nih.gov/29908885"}]}, {"type": "r", "ref": 13, "children": [{"type": "t", "text": "Julia Doll, Michaela A H Hofrichter, Paulina Bahena, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A novel missense variant in MYO3A is associated with autosomal dominant high-frequency hearing loss in a German family."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Genet Genomic Med (2020)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/mgg3.1343"}], "href": "https://doi.org/10.1002/mgg3.1343"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "32519820"}], "href": "https://pubmed.ncbi.nlm.nih.gov/32519820"}]}, {"type": "r", "ref": 14, "children": [{"type": "t", "text": "André S Bueno, Kelly Nunes, Alex M M Dias, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Frequency and origin of the c.2090T>G p.(Leu697Trp) MYO3A variant associated with autosomal dominant hearing loss."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Eur J Hum Genet (2022)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/s41431-021-00891-0"}], "href": "https://doi.org/10.1038/s41431-021-00891-0"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "33953343"}], "href": "https://pubmed.ncbi.nlm.nih.gov/33953343"}]}, {"type": "r", "ref": 15, "children": [{"type": "t", "text": "Amal Souissi, Dorra Abdelmalek Driss, Imen Chakchouk, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Molecular insights into "}, {"type": "a", "children": [{"type": "t", "text": "i"}], "href": "i"}, {"type": "t", "text": "MYO3A"}, {"type": "a", "children": [{"type": "t", "text": "/i"}], "href": "/i"}, {"type": "t", "text": " kinase domain variants explain variability in both severity and progression of DFNB30 hearing impairment."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biomol Struct Dyn (2022)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1080/07391102.2021.1953600"}], "href": "https://doi.org/10.1080/07391102.2021.1953600"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "34423747"}], "href": "https://pubmed.ncbi.nlm.nih.gov/34423747"}]}, {"type": "r", "ref": 16, "children": [{"type": "t", "text": "Laura K Gunther, Joseph A Cirilo, Rohini Desetty, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Deafness mutation in the MYO3A motor domain impairs actin protrusion elongation mechanism."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Biol Cell (2022)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1091/mbc.E21-05-0232"}], "href": "https://doi.org/10.1091/mbc.E21-05-0232"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "34788109"}], "href": "https://pubmed.ncbi.nlm.nih.gov/34788109"}]}, {"type": "r", "ref": 17, "children": [{"type": "t", "text": "Joseph A Cirilo, Xiayi Liao, Benjamin J Perrin, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The dynamics of actin protrusions can be controlled by tip-localized myosin motors."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (2024)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.jbc.2023.105516"}], "href": "https://doi.org/10.1016/j.jbc.2023.105516"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "38042485"}], "href": "https://pubmed.ncbi.nlm.nih.gov/38042485"}]}]}]}
Synonyms	DFNB30
Proteins	MYO3A_HUMAN
NCBI Gene ID	53904
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Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

MYO3A has 4,691 functional associations with biological entities spanning 9 categories (molecular profile, organism, chemical, disease, phenotype or trait, functional term, phrase or reference, structural feature, cell line, cell type or tissue, gene, protein or microRNA, sequence feature) extracted from 124 datasets.

Click the + buttons to view associations for MYO3A from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

MYO3A Gene

Functional Associations

Please acknowledge the Harmonizome in your publications by citing the following reference(s):

	Dataset	Summary
	Achilles Cell Line Gene Essentiality Profiles	cell lines with fitness changed by MYO3A gene knockdown relative to other cell lines from the Achilles Cell Line Gene Essentiality Profiles dataset.
	Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of MYO3A gene relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles	tissues with high or low expression of MYO3A gene relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles	tissue samples with high or low expression of MYO3A gene relative to other tissue samples from the Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray	tissue samples with high or low expression of MYO3A gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq	tissue samples with high or low expression of MYO3A gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq dataset.
	Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of MYO3A gene relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.
	BioGPS Cell Line Gene Expression Profiles	cell lines with high or low expression of MYO3A gene relative to other cell lines from the BioGPS Cell Line Gene Expression Profiles dataset.
	BioGPS Human Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of MYO3A gene relative to other cell types and tissues from the BioGPS Human Cell Type and Tissue Gene Expression Profiles dataset.
	BioGPS Mouse Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of MYO3A gene relative to other cell types and tissues from the BioGPS Mouse Cell Type and Tissue Gene Expression Profiles dataset.
	Carcinogenome Chemical Perturbation Carcinogenicity Signatures	small molecule perturbations changing expression of MYO3A gene from the Carcinogenome Chemical Perturbation Carcinogenicity Signatures dataset.
	CCLE Cell Line Gene CNV Profiles	cell lines with high or low copy number of MYO3A gene relative to other cell lines from the CCLE Cell Line Gene CNV Profiles dataset.
	CCLE Cell Line Gene Expression Profiles	cell lines with high or low expression of MYO3A gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CCLE Cell Line Gene Mutation Profiles	cell lines with MYO3A gene mutations from the CCLE Cell Line Gene Mutation Profiles dataset.
	CellMarker Gene-Cell Type Associations	cell types associated with MYO3A gene from the CellMarker Gene-Cell Type Associations dataset.
	ChEA Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of MYO3A gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of MYO3A gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets dataset.
	ChEA Transcription Factor Targets 2022	transcription factors binding the promoter of MYO3A gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset.
	ClinVar Gene-Phenotype Associations	phenotypes associated with MYO3A gene from the curated ClinVar Gene-Phenotype Associations dataset.
	ClinVar Gene-Phenotype Associations 2025	phenotypes associated with MYO3A gene from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
	CM4AI KOLF21J CRISPRi Gene Perturbation Atlas	gene perturbations changing expression of MYO3A gene from the CM4AI KOLF21J CRISPRi Gene Perturbation Atlas dataset.
	CMAP Signatures of Differentially Expressed Genes for Small Molecules	small molecule perturbations changing expression of MYO3A gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing MYO3A protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing MYO3A protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores	cellular components co-occuring with MYO3A protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025	cellular components co-occuring with MYO3A protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
	COSMIC Cell Line Gene CNV Profiles	cell lines with high or low copy number of MYO3A gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with MYO3A gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Chemical Interactions	chemicals interacting with MYO3A gene/protein from the curated CTD Gene-Chemical Interactions dataset.
	CTD Gene-Disease Associations	diseases associated with MYO3A gene/protein from the curated CTD Gene-Disease Associations dataset.
	DeepCoverMOA Drug Mechanisms of Action	small molecule perturbations with high or low expression of MYO3A protein relative to other small molecule perturbations from the DeepCoverMOA Drug Mechanisms of Action dataset.
	DepMap CRISPR Gene Dependency	cell lines with fitness changed by MYO3A gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores	diseases involving MYO3A gene from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores 2025	diseases involving MYO3A gene from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores	diseases co-occuring with MYO3A gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores 2025	diseases co-occuring with MYO3A gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
	DisGeNET Gene-Disease Associations	diseases associated with MYO3A gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
	DisGeNET Gene-Phenotype Associations	phenotypes associated with MYO3A gene in GWAS and other genetic association datasets from the DisGeNET Gene-Phenoptype Associations dataset.
	ENCODE Histone Modification Site Profiles	histone modification site profiles with high histone modification abundance at MYO3A gene from the ENCODE Histone Modification Site Profiles dataset.
	ENCODE Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of MYO3A gene from the ENCODE Transcription Factor Binding Site Profiles dataset.