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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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    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
    		not available

    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)

    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

    Gene LinkOut

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