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MYO15A myosin XVA [ Homo sapiens (human) ]

Gene ID: 51168, updated on 3-Nov-2024

Summary

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Official Symbol
MYO15Aprovided by HGNC
Official Full Name
myosin XVAprovided by HGNC
Primary source
HGNC:HGNC:7594
See related
Ensembl:ENSG00000091536 MIM:602666; AllianceGenome:HGNC:7594
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
DFNB3; MYO15
Summary
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. Mutations in this gene have been associated with profound, congenital, neurosensory, nonsyndromal deafness. This gene is located within the Smith-Magenis syndrome region on chromosome 17. Read-through transcripts 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. [provided by RefSeq, Jul 2008]
Expression
Biased expression in testis (RPKM 1.5), ovary (RPKM 0.3) and 6 other tissues See more
Orthologs
mouse all
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Genomic context

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See MYO15A in Genome Data Viewer
Location:
17p11.2
Exon count:
67
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (18108756..18179800)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (18055569..18126619)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (18012070..18083114)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8265 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11823 Neighboring gene GID complex subunit 4 homolog Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11824 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:17991145-17991646 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:17991647-17992146 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:18010366-18011013 Neighboring gene uncharacterized LOC105371566 Neighboring gene developmentally regulated GTP binding protein 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:18038431-18039424 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:18039425-18040418 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:18045565-18046530 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:18046531-18047495 Neighboring gene small nucleolar RNA U13 Neighboring gene uncharacterized LOC124903944 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:18053522-18054022 Neighboring gene uncharacterized LOC105371567 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:18056260-18056783 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8266 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11827 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11828 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:18070429-18070930 Neighboring gene Sharpr-MPRA regulatory region 12190 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11829 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11830 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:18087137-18087974 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8269 Neighboring gene alkB homolog 5, RNA demethylase Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11831 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8270 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8271 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:18133833-18134668 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:18134669-18135502 Neighboring gene LLGL scribble cell polarity complex component 1 Neighboring gene FLII actin remodeling protein

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Novel compound heterozygous mutations in the MYO15A gene in autosomal recessive hearing loss identified by whole-exome sequencing. Gao X, et al. J Transl Med, 2013 Nov 9. PMID 24206587, Free PMC Article
  2. Identification and Clinical Implications of a Novel MYO15A Variant in a Consanguineous Iranian Family by Targeted Exome Sequencing. Zarepour N, et al. Audiol Neurootol, 2019. PMID 30943474
  3. Novel mutations in MYTH4-FERM domains of myosin 15 are associated with autosomal recessive nonsyndromic hearing loss. Mehregan H, et al. Int J Pediatr Otorhinolaryngol, 2019 Feb. PMID 30579064
  4. A novel nonsense mutation in MYO15A is associated with non-syndromic hearing loss: a case report. Ma D, et al. BMC Med Genet, 2018 Aug 1. PMID 30068307, Free PMC Article
  5. Three MYO15A Mutations Identified in One Chinese Family with Autosomal Recessive Nonsyndromic Hearing Loss. Zhang F, et al. Neural Plast, 2018. PMID 29849560, Free PMC Article

See all (73) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Novel compound heterozygous MYO15A splicing variants in autosomal recessive non-syndromic hearing loss.
    Title: Novel compound heterozygous MYO15A splicing variants in autosomal recessive non-syndromic hearing loss.
  2. Loss-of-function mutations in MYO15A and OTOF cause non-syndromic hearing loss in two Yemeni families.
    Title: Loss-of-function mutations in MYO15A and OTOF cause non-syndromic hearing loss in two Yemeni families.
  3. Identification of novel compound heterozygous mutations of the MYO15A gene with autosomal recessive non-syndromic hearing loss.
    Title: Identification of novel compound heterozygous mutations of the MYO15A gene with autosomal recessive non-syndromic hearing loss.
  4. Exosomal microRNA-1 and MYO15A as a target for therapy and diagnosis in renal cell carcinoma.
    Title: Exosomal microRNA-1 and MYO15A as a target for therapy and diagnosis in renal cell carcinoma.
  5. Hearing Features and Cochlear Implantation Outcomes in Patients With Pathogenic MYO15A Variants: a Multicenter Observational Study.
    Title: Hearing Features and Cochlear Implantation Outcomes in Patients With Pathogenic MYO15A Variants: a Multicenter Observational Study.
  6. Analysis of the genotype-phenotype correlation of MYO15A variants in Chinese non-syndromic hearing loss patients.
    Title: Analysis of the genotype-phenotype correlation of MYO15A variants in Chinese non-syndromic hearing loss patients.
  7. Whole-Exome Sequencing Identifies a Recurrent Small In-Frame Deletion in MYO15A Causing Autosomal Recessive Nonsyndromic Hearing Loss in 3 Iranian Pedigrees.
    Title: Whole-Exome Sequencing Identifies a Recurrent Small In-Frame Deletion in MYO15A Causing Autosomal Recessive Nonsyndromic Hearing Loss in 3 Iranian Pedigrees.
  8. Heterogeneity of MYO15A variants significantly determine the feasibility of acoustic stimulation with hearing aid and cochlear implant.
    Title: Heterogeneity of MYO15A variants significantly determine the feasibility of acoustic stimulation with hearing aid and cochlear implant.
  9. A synonymous variant in MYO15A enriched in the Ashkenazi Jewish population causes autosomal recessive hearing loss due to abnormal splicing.
    Title: A synonymous variant in MYO15A enriched in the Ashkenazi Jewish population causes autosomal recessive hearing loss due to abnormal splicing.
  10. PNPT1, MYO15A, PTPRQ, and SLC12A2-associated genetic and phenotypic heterogeneity among hearing impaired assortative mating families in Southern India.
    Title: PNPT1, MYO15A, PTPRQ, and SLC12A2-associated genetic and phenotypic heterogeneity among hearing impaired assortative mating families in Southern India.
Submit: New GeneRIF Correction See all GeneRIFs (51)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Autosomal recessive nonsyndromic hearing loss 3
MedGen: C1838263 OMIM: 600316 GeneReviews: Genetic Hearing Loss Overview
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EBI GWAS Catalog

Description
Biological insights from 108 schizophrenia-associated genetic loci.
EBI GWAS Catalog
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ17274, FLJ31311, DKFZp686N18198

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATP binding IEA
Inferred from Electronic Annotation
more info
  
enables actin filament binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables calmodulin binding IEA
Inferred from Electronic Annotation
more info
  
enables microfilament motor activity IBA
Inferred from Biological aspect of Ancestor
more info
  
Process Evidence Code Pubs
involved_in actin filament organization IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in endocytosis IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in inner ear morphogenesis IEA
Inferred from Electronic Annotation
more info
  
involved_in locomotory behavior IEA
Inferred from Electronic Annotation
more info
  
involved_in response to light stimulus IEA
Inferred from Electronic Annotation
more info
  
involved_in sensory perception of sound IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
is_active_in actin cytoskeleton IBA
Inferred from Biological aspect of Ancestor
more info
  
is_active_in actin-based cell projection IBA
Inferred from Biological aspect of Ancestor
more info
  
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in extracellular exosome HDA PubMed 
is_active_in membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of myosin complex IEA
Inferred from Electronic Annotation
more info
  
located_in stereocilium IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
unconventional myosin-XV
Names
myosin-XV
unconventional myosin-15

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_011634.2 RefSeqGene

    Range
    5051..76095
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_016239.4 → NP_057323.3  unconventional myosin-XV

    See identical proteins and their annotated locations for NP_057323.3

    Status: REVIEWED

    Source sequence(s)
    AC087164, AF144094
    Consensus CDS
    CCDS42271.1
    UniProtKB/Swiss-Prot
    B4DFC7, Q9UKN7
    Related
    ENSP00000495481.1, ENST00000647165.2
    Conserved Domains (7) summary
    cd12067
    Location:2871 → 2950
    SH3_MYO15A; Src Homology 3 domain of Myosin XVa
    smart00139
    Location:3050 → 3204
    MyTH4; Domain in Myosin and Kinesin Tails
    smart00242
    Location:1217 → 1899
    MYSc; Myosin. Large ATPases
    smart00295
    Location:3214 → 3419
    B41; Band 4.1 homologues
    cd13201
    Location:3415 → 3516
    FERM_C_MyoXV; FERM domain C-lobe of Myosin XV (MyoXV/Myo15)
    cd14473
    Location:3309 → 3411
    FERM_B-lobe; FERM domain B-lobe
    cd01387
    Location:1236 → 1887
    MYSc_Myo15; class XV mammal-like myosin, motor domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    18108756..18179800
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017024715.3 → XP_016880204.1  unconventional myosin-XV isoform X5

  2. XM_017024714.3 → XP_016880203.1  unconventional myosin-XV isoform X1

  3. XM_011523918.3 → XP_011522220.1  unconventional myosin-XV isoform X2

    Conserved Domains (3) summary
    smart00242
    Location:1217 → 1897
    MYSc; Myosin. Large ATPases
    cd01387
    Location:1236 → 1885
    MYSc_Myo15; class XV mammal-like myosin, motor domain
    cl02480
    Location:2045 → 2115
    MyTH4; MyTH4 domain

  4. XM_024450781.2 → XP_024306549.1  unconventional myosin-XV isoform X4

    Conserved Domains (3) summary
    smart00015
    Location:1923 → 1944
    IQ; Calmodulin-binding motif
    PHA03247
    Location:723 → 1144
    PHA03247; large tegument protein UL36; Provisional
    cd01387
    Location:1236 → 1885
    MYSc_Myo15; class XV mammal-like myosin, motor domain

  5. XM_024450780.2 → XP_024306548.1  unconventional myosin-XV isoform X3

    Conserved Domains (3) summary
    smart00015
    Location:1923 → 1944
    IQ; Calmodulin-binding motif
    cd01387
    Location:1236 → 1885
    MYSc_Myo15; class XV mammal-like myosin, motor domain
    cl26464
    Location:723 → 1144
    Atrophin-1; Atrophin-1 family

RNA

  1. XR_934039.3 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    18055569..18126619
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054316349.1 → XP_054172324.1  unconventional myosin-XV isoform X5

  2. XM_054316345.1 → XP_054172320.1  unconventional myosin-XV isoform X1

  3. XM_054316346.1 → XP_054172321.1  unconventional myosin-XV isoform X2

  4. XM_054316348.1 → XP_054172323.1  unconventional myosin-XV isoform X4

  5. XM_054316347.1 → XP_054172322.1  unconventional myosin-XV isoform X3

RNA

  1. XR_008484826.1 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9UKN7.2 GenPept UniProtKB/Swiss-Prot:Q9UKN7

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