Contents

MYO15A

Protein-coding gene in the species Homo sapiens

MYO15A
Identifiers
Aliases	MYO15A, DFNB3, MYO15, myosin XVA
External IDs	OMIM: 602666; MGI: 1261811; HomoloGene: 56504; GeneCards: MYO15A; OMA:MYO15A - orthologs
Gene location (Human) Chr. Chromosome 17 (human)[1] Band 17p11.2 Start 18,108,756 bp[1] End 18,179,802 bp[1]
Gene location (Mouse) Chr. Chromosome 11 (mouse)[2] Band 11 B2|11 37.81 cM Start 60,360,165 bp[2] End 60,419,195 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in pituitary gland anterior pituitary left testis right testis right hemisphere of cerebellum testicle right frontal lobe gonad left ovary sural nerve Top expressed in epithelium of macula of saccule of membranous labyrinth utricle pituitary gland lumbar subsegment of spinal cord embryo tibiofemoral joint trachea vestibular membrane of cochlear duct facial motor nucleus zygote More reference expression data BioGPS More reference expression data
Gene ontology Molecular function nucleotide binding actin binding cytoskeletal motor activity ATP binding calmodulin binding Cellular component cytoplasm stereocilium bundle cell projection extracellular exosome cytoskeleton myosin complex stereocilium Biological process hearing inner ear morphogenesis locomotory behavior Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 51168 17910 Ensembl ENSG00000091536 ENSMUSG00000042678 UniProt Q9UKN7 Q9QZZ4 RefSeq (mRNA) NM_016239 NM_001103171 NM_010862 NM_182698 RefSeq (protein) NP_057323 NP_001096641 NP_034992 NP_874357 Location (UCSC) Chr 17: 18.11 – 18.18 Mb Chr 11: 60.36 – 60.42 Mb PubMed search [3] [4]
Wikidata
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Myosin-XV is a protein that in humans is encoded by the MYO15A gene.^[5][6]

Gene[edit]

Read-through transcript containing an upstream gene and this gene have been identified, but they are not thought to encode a fusion protein. Several alternatively spliced transcript variants have been described, but their full length sequences have not been determined.^[6]

Function[edit]

This gene encodes an unconventional myosin. This protein differs from other myosins in that it has a long N-terminal extension preceding the conserved motor domain. Studies in mice suggest that this protein is necessary for actin organization in the hair cells of the cochlea.^[6]

Clinical significance[edit]

Mutations in this gene have been associated with profound, congenital, neurosensory, nonsyndromic deafness.^[7] This gene is located within the Smith–Magenis syndrome region on chromosome 17.^[6]

References[edit]

Further reading[edit]

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