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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

MYO15A Gene

protein-coding   GIFtS: 49
GCID: GC17P018012

Myosin XVA


(Previous symbols: DFNB3, MYO15)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Myosin XVA1 2
MYO151 2 3
DFNB31 2 5
Unconventional Myosin-152 3
myosin-XV2
Unconventional Myosin-XV2

External Ids:    HGNC: 75941   Entrez Gene: 511682   Ensembl: ENSG000000915367   OMIM: 6026665   UniProtKB: Q9UKN73   

Export aliases for MYO15A gene to outside databases

Previous GC identifers: GC17P018257 GC17P019384 GC17P017955 GC17P018212 GC17P017952 GC17P017765


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for MYO15A Gene:
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)

GeneCards Summary for MYO15A Gene: 
MYO15A (myosin XVA) is a protein-coding gene. Diseases associated with MYO15A include dfnb 3 nonsyndromic hearing loss and deafness, and deafness, autosomal recessive 3, and among its related super-pathways are Antioxidant Action of Vitamin-C and Actin Nucleation and Branching. GO annotations related to this gene include motor activity and actin binding. An important paralog of this gene is MYO1D.

UniProtKB/Swiss-Prot: MYO15_HUMAN, Q9UKN7
Function: Myosins are actin-based motor molecules with ATPase activity. Unconventional myosins serve in
intracellular movements. Their highly divergent tails are presumed to bind to membranous compartments, which
would be moved relative to actin filaments. Required for the arrangement of stereocilia in mature hair bundles
(By similarity)

Gene Wiki entry for MYO15A Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000017.10  NT_010718.16  NC_018928.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the MYO15A gene promoter:
         SRF   Egr-3   Bach1   POU6F1 (c2)   HNF-3beta   POU2F1   POU2F1a   ARP-1   NF-Y   CBF(2)   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMYO15A promoter sequence
   Search SABiosciences Chromatin IP Primers for MYO15A

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MYO15A


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 17p11.2   Ensembl cytogenetic band:  17p11.2   HGNC cytogenetic band: 17p11.2

MYO15A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MYO15A gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17P018012:  view genomic region     (about GC identifiers)

Start:
18,012,020 bp from pter      End:
18,083,116 bp from pter
Size:
71,097 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: MYO15_HUMAN, Q9UKN7 (See protein sequence)
Recommended Name: Unconventional myosin-XV  
Size: 3530 amino acids; 395293 Da
Subunit: Interacts with the third PDZ domain of WHRN which is necessary for localization of WHRN to stereocilium
tips. Interacts with EPS8 (By similarity). Interacts with FASLG
Subcellular location: Cell projection, stereocilium (By similarity). Cytoplasm, cytoskeleton (By similarity).
Note=Localizes to stereocilium tips in cochlear and vestibular hair cells (By similarity)
Caution: Represents a unconventional myosin. This protein should not be confused with the conventional myosin-15
(MYH15)

Explore the universe of human proteins at neXtProt for MYO15A: NX_Q9UKN7

Explore proteomics data for MYO15A at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9UKN7

  • MYO15A Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    MYO15A Protein Expression
    REFSEQ proteins: NP_057323.3  
    ENSEMBL proteins: 
     ENSP00000205890   ENSP00000408800   ENSP00000464462   ENSP00000451782   ENSP00000451925  
     ENSP00000467989   ENSP00000465910   ENSP00000466630   ENSP00000409098  

    Human Recombinant Protein Products for MYO15A: 
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    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IEA--
    GO:0005856cytoskeleton ----
    GO:0016459myosin complex IEA--
    GO:0032420stereocilium IEA--
    GO:0032421stereocilium bundle ----

    MYO15A for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    MYOXV: Myosins / Myosin superfamily : Class XV

    5/9 InterPro protein domains (see all 9):
     IPR019748 FERM_central
     IPR001452 SH3_domain
     IPR011511 SH3_2
     IPR027417 P-loop_NTPase
     IPR000857 MyTH4_dom

    Graphical View of Domain Structure for InterPro Entry Q9UKN7

    ProtoNet protein and cluster: Q9UKN7

    4 Blocks protein domains:
    IPB000048 IQ calmodulin-binding region
    IPB000857 Core domain in kinesin and myosin motor
    IPB001452 SH3 domain signature
    IPB011511 Variant SH3


    UniProtKB/Swiss-Prot: MYO15_HUMAN, Q9UKN7
    Similarity: Contains 1 FERM domain
    Similarity: Contains 3 IQ domains
    Similarity: Contains 1 myosin head-like domain
    Similarity: Contains 2 MyTH4 domains
    Similarity: Contains 1 SH3 domain


    MYO15A for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: MYO15_HUMAN, Q9UKN7
    Function: Myosins are actin-based motor molecules with ATPase activity. Unconventional myosins serve in
    intracellular movements. Their highly divergent tails are presumed to bind to membranous compartments, which
    would be moved relative to actin filaments. Required for the arrangement of stereocilia in mature hair bundles
    (By similarity)

         Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003774motor activity IEA--
    GO:0003779actin binding IEA--
    GO:0005515protein binding ----
    GO:0005516calmodulin binding IEA--
    GO:0005524ATP binding IEA--
         
    MYO15A for ontologies           About GeneDecksing


    Phenotypes:
         4 MGI mutant phenotypes (inferred from 6 alleles(MGI details for Myo15):
     behavior/neurological  growth/size  hearing/vestibular/ear  nervous system 

    MYO15A for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for MYO15A 
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for MYO15A 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for MYO15A 

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    7 QIAGEN miScript miRNA Assays for microRNAs that regulate MYO15A:
    hsa-miR-3673 hsa-miR-206 hsa-miR-637 hsa-miR-491-5p hsa-miR-3151 hsa-miR-1 hsa-miR-613
    SwitchGear 3'UTR luciferase reporter plasmidMYO15A 3' UTR sequence
    Inhib. RNA
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for MYO15A About   (see all 7)                                                                                              See pathways by source

    SuperPathContained pathways About
    1PAK Pathway
    PAK Pathway0.56
    Epithelial Adherens Junctions0.36
    Antioxidant Action of Vitamin-C0.56
    2Actin Nucleation by ARP-WASP Complex
    Actin Nucleation by ARP-WASP Complex0.66
    RhoA Pathway0.35
    3Fc-GammaR-Mediated Phagocytosis in Macrophages
    Fc-GammaR-Mediated Phagocytosis in Macrophages0.33
    RhoGDI Pathway0.33
    4Rho Family GTPases
    ILK Signaling0.49
    5Sweet Taste Signaling
    Cellular Effects of Sildenafil0.46

    5/11 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for MYO15A (see all 11)
        RhoA Pathway
    Antioxidant Action of Vitamin-C
    Transendothelial Migration of Leukocytes
    Actin Nucleation by ARP-WASP Complex
    Epithelial Adherens Junctions


    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for MYO15A

    STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

    4 Interacting proteins for MYO15A (Q9UKN73 ENSP000002058904) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    DFNB31Q9P2023, ENSP000003546234I2D: score=6 STRING: ENSP00000354623
    EPS8Q129293, ENSP000002811724I2D: score=4 STRING: ENSP00000281172
    FASLGP480233, ENSP000003566944I2D: score=1 STRING: ENSP00000356694
    USP13Q929953I2D: score=4 
    About this table

    Gene Ontology (GO): 3 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007605sensory perception of sound IEA--
    GO:0007626locomotory behavior IEA--
    GO:0042472inner ear morphogenesis IEA--

    MYO15A for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for MYO15A (MYO15)

    Search CenterWatch for drugs/clinical trials and news about MYO15A / MYO15

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for MYO15A gene: 
    NM_016239.3  

    Unigene Cluster for MYO15A:

    Myosin XVA
    Hs.462390  [show with all ESTs]
    Unigene Representative Sequence: NM_016239
    17 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000205890(uc021trl.1 uc021trm.1) ENST00000583079 ENST00000412324
    ENST00000578999 ENST00000418233(uc010vxi.2 uc010vxl.1 uc010vxm.2 uc010cpv.3)
    ENST00000536811(uc010vxj.1) ENST00000445289(uc010vxk.1) ENST00000585180
    ENST00000556535 ENST00000557190 ENST00000557655 ENST00000578472 ENST00000433411(uc002gsl.3)
    ENST00000579848 ENST00000473013(uc002gsm.1) ENST00000578575 ENST00000451725

    miRNA
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    7 QIAGEN miScript miRNA Assays for microRNAs that regulate MYO15A:
    hsa-miR-3673 hsa-miR-206 hsa-miR-637 hsa-miR-491-5p hsa-miR-3151 hsa-miR-1 hsa-miR-613
    SwitchGear 3'UTR luciferase reporter plasmidMYO15A 3' UTR sequence
    Inhib. RNA
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MYO15A

    Additional mRNA sequence: 

    AF144094.1 AK294036.1 AK297179.1 AK297641.1 AK298825.1 AK300529.1 AK310232.1 

    4 DOTS entries:

    DT.40126983  DT.99988249  DT.415782  DT.95097409 

    24/309 AceView cDNA sequences (see all 309):

    BI255896 BI909797 BI768080 AL713794 BM692422 AW292629 AI656940 AA732361 
    AW015375 BF223206 CR610770 NM_016239 F09235 BU689188 BU734885 BF000329 
    CA393006 X80754 BM924541 AI380161 BI752795 BM547604 CA495284 CR591061 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    MYO15A expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTTATTCCCT
    MYO15A Expression
    About this image


    See MYO15A Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for MYO15A

    SOURCE GeneReport for Unigene cluster: Hs.462390

    UniProtKB/Swiss-Prot: MYO15_HUMAN, Q9UKN7
    Tissue specificity: Highly expressed in pituitary. Also expressed at lower levels in adult brain, kidney, liver,
    lung, pancreas, placenta and skeletal muscle. Not expressed in brain. In the pituitary, highly expressed in
    anterior gland cells

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MYO15A

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for MYO15A gene from 6/12 species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Myo151 , 5 myosin XV1, 5 82.2(n)1
    83.54(a)1
      11 (37.81 cM)5
    179101  NM_010862.21  NP_034992.21 
     604693395 
    chicken
    (Gallus gallus)
    Aves MYO15A1 myosin XVA 68.59(n)
    64.79(a)
      416514  XM_414818.3  XP_414818.3 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    (see all 3)
    Uncharacterized protein
    (see all 3)
    68(a)
    64(a)
    (see all 3)
    1 ↔ many
    1 ↔ many
    (see all 3)
    GL343618.1(187-11728)
    GL344450.1(4471-32852)
    zebrafish
    (Danio rerio)
    Actinopterygii myo15aa1 myosin XVAa 57.9(n)
    55.19(a)
      560592  XM_001924016.2  XP_001924051.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Myo10A3 myosin ATPase 42(a)     --
    worm
    (Caenorhabditis elegans)
    Secernentea hum-43 myosin like 26(a)   X(11455973-11472842)   --


    ENSEMBL Gene Tree for MYO15A (if available)
    TreeFam Gene Tree for MYO15A (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for MYO15A gene
    MYO1D2  MYO162  MYO1C2  MYO1A2  MYO1F2  MYO1G2  MYO1B2  MYO1E2  
    MYO1H2  MYO192  
    18/22 SIMAP similar genes for MYO15A using alignment to 9 protein entries:     MYO15_HUMAN (see all proteins) (see all similar genes):
    DKFZp686N18198    DKFZp434O1119    MYO10    MYH11    MYH9    MYO1B
    MYO1D    MYO5B    MYO5C    MYO1A    MYO1E    DKFZp667C0210
    FLJ00395    MYO1F variant protein    MYH1    MYO1C    DKFZp686A01173    MYH2

    MYO15A for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1834 SNPs in MYO15A are shown (see all 1834)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0103034
    Deafness, autosomal recessive, 3 (DFNB3)4--see VAR_0103032 N Y mis40--------
    VAR_0103044
    Deafness, autosomal recessive, 3 (DFNB3)4--see VAR_0103042 I F mis40--------
    VAR_0379644
    Deafness, autosomal recessive, 3 (DFNB3)4--see VAR_0379642 Q H mis40--------
    rs1219089701,2,4
    C,Fpathogenic118039425(+) CCGCAC/TCTTAC 2 T I mis11Minor allele frequency- T:0.01EU 1323
    rs75026811,2
    C--17768040(+) aaaaaA/Gaaaaa 1 -- int1 trp30--------
    rs670241941,2
    C--17773600(+) AAAAA-/A/GAAAGA 1 -- int10--------
    rs673668751,2
    C--17773603(+) AAAAAA/GAAAGA 1 -- int10--------
    rs665391611,2
    C--17782208(+) AATAC-/AAAAAA 1 -- int12Minor allele frequency- A:0.25NA CSA 4
    rs2013826031,2
    C--17806652(-) CCTTTC/TTTTTT 1 -- int10--------
    rs341834421,2
    C--17998017(+) TTTTT-/T/TT  
            
    GAGAC
    1 -- us2k11NA 2

    HapMap Linkage Disequilibrium report for MYO15A (18012020 - 18083116 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 8 variations for MYO15A:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv510702CNV Loss20534489
    dgv3077n71CNV Loss21882294
    nsv470580CNV Loss18288195
    nsv457697CNV Loss19166990
    nsv907769CNV Loss21882294
    nsv827912CNV Gain20364138
    nsv155OTHER Inversion15895083
    nsv499114OTHER Inversion21111241


    Human Gene Mutation Database (HGMD): MYO15A

    Locus Specific Mutation Databases (LSDB): MYO15A
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 602666   
    OMIM disorders: 600316  
    UniProtKB/Swiss-Prot: MYO15_HUMAN, Q9UKN7
  • Deafness, autosomal recessive, 3 (DFNB3) [MIM:600316]: A form of non-syndromic sensorineural hearing
    loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to
    the brain, or the area of the brain that receives sound information. Note=The disease is caused by mutations
    affecting the gene represented in this entry

  • 8 diseases for MYO15A:    About MalaCards
    dfnb 3 nonsyndromic hearing loss and deafness    deafness, autosomal recessive 3    nonsyndromic deafness    nonsyndromic hearing loss and deafness, autosomal recessive
    smith magenis syndrome    enlarged vestibular aqueduct    sensorineural hearing loss    usher syndrome

    1 disease from the University of Copenhagen DISEASES database for MYO15A:
    Nonsyndromic deafness

    MYO15A for disorders           About GeneDecksing

    3 Novoseek inferred disease relationships for MYO15A gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    dfnb3 99.1 12 19274735 (2), 17851452 (1), 11735029 (1), 17853461 (1) (see all 8)
    dfnb2 90.3 1 11101839 (1)
    congenital deafness 79.7 1 10704189 (1)


    Export disorders for MYO15A gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for MYO15A gene, integrated from 9 sources (see all 41):
    (articles sorted by number of sources associating them with MYO15A)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Association of unconventional myosin MYO15 mutations with human nonsyndromic deafness DFNB3. (PubMed id 9603736)1, 2, 3, 9 Wang A....Friedman T.B. (1998)
    2. Characterization of the human and mouse unconventional myosin XV genes responsible for hereditary deafness DFNB3 and shaker 2. (PubMed id 10552926)1, 2, 9 Liang Y....Fridell R.A. (1999)
    3. Novel mutations of MYO15A associated with profound deafness in consanguineous families and moderately severe hearing loss in a patient with Smith-Magenis syndrome. (PubMed id 11735029)1, 2, 9 Liburd N.... Friedman T.B. (2001)
    4. Identification of SH3 domain interaction partners of human FasL (CD178) by phage display screening. (PubMed id 19807924)1, 2 Voss M....Janssen O. (2009)
    5. MYO15A (DFNB3) mutations in Turkish hearing loss families and functional modeling of a novel motor domain mutation. (PubMed id 17853461)1, 9 Kalay E....Kremer H. (2007)
    6. Myosin XVA expression in the pituitary and in other neuroendocrine tissues and tumors. (PubMed id 11583965)1, 9 Lloyd R.V....Friedman T.B. (2001)
    7. Mutations in the first MyTH4 domain of MYO15A are a common cause of DFNB3 hearing loss. (PubMed id 19274735)1, 9 Shearer A.E....Najmabadi H. (2009)
    8. Mutational spectrum of MYO15A: the large N-terminal extension of myosin XVA is required for hearing. (PubMed id 17546645)1, 9 Nal N....Friedman T.B. (2007)
    9. Whole-exome sequencing identifies MYO15A mutations as a cause of autosomal recessive nonsyndromic hearing loss in Korean families. (PubMed id 23865914)1 Woo H.M....Koo S.K. (2013)
    10. Screening for MYO15A gene mutations in autosomal reces sive nonsyndromic, GJB2 negative Iranian deaf population. (PubMed id 22736430)1 Fattahi Z....Najmabadi H. (2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 51168 HGNC: 7594 AceView: DRG2andMYO15A Ensembl:ENSG00000091536 euGenes: HUgn51168
    ECgene: MYO15A H-InvDB: MYO15A

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for MYO15A Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for MYO15A gene:
    Search GeneIP for patents involving MYO15A

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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