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MYO3A Gene

protein-coding   GIFtS: 59
GCID: GC10P026263

Myosin IIIA

(Previous names: deafness, autosomal recessive 30)
(Previous symbol: DFNB30)
  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)
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Aliases
Myosin IIIA1 2
DFNB301 2 5
EC 2.7.11.13 8
Deafness, Autosomal Recessive 301
myosin-IIIa2
EC 2.7.118

External Ids:    HGNC: 76011   Entrez Gene: 539042   Ensembl: ENSG000000957777   OMIM: 6068085   UniProtKB: Q8NEV43   

Export aliases for MYO3A gene to outside databases

Previous GC identifers: GC10P025958 GC10P026373 GC10P026227 GC10P025882


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for MYO3A Gene:
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)

GeneCards Summary for MYO3A Gene:
MYO3A (myosin IIIA) is a protein-coding gene. Diseases associated with MYO3A include deafness, autosomal recessive 30, and dfnb30 nonsyndromic hearing loss and deafness. GO annotations related to this gene include protein serine/threonine kinase activity and calmodulin binding. An important paralog of this gene is MYO9A.

UniProtKB/Swiss-Prot: MYO3A_HUMAN, Q8NEV4
Function: Probable actin-based motor with a protein kinase activity. Probably plays a role in vision and hearing

Gene Wiki entry for MYO3A 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000010.11  NC_018921.2  NT_008705.17  
Regulatory elements:
   Regulatory transcription factor binding sites in the MYO3A gene promoter:
         LHX3b/Lhx3b   HNF-1A   S8   FOXJ2 (long isoform)   HNF-1   HFH-1   LHX3a/Lhx3a   Msx-1   Pax-4a   En-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMYO3A promoter sequence
   Search Chromatin IP Primers for MYO3A

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MYO3A


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

Entrez Gene cytogenetic band: 10p11.1   Ensembl cytogenetic band:  10p12.1   HGNC cytogenetic band: 10p11.1

MYO3A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MYO3A gene location

GeneLoc information about chromosome 10         GeneLoc Exon Structure

GeneLoc location for GC10P026263:  view genomic region     (about GC identifiers)

Start:
26,223,002 bp from pter      End:
26,501,465 bp from pter
Size:
278,464 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: MYO3A_HUMAN, Q8NEV4 (See protein sequence)
Recommended Name: Myosin-IIIa  
Size: 1616 amino acids; 186208 Da
Secondary accessions: Q5VZ28 Q8WX17 Q9NYS8

Explore the universe of human proteins at neXtProt for MYO3A: NX_Q8NEV4

Explore proteomics data for MYO3A at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for MYO3A (Q8NEV4) (see all 6)
     GITAIEL  WMAPEVI  GTPFWMAP  LVLELCSGG 


    See MYO3A Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_059129.3  
    ENSEMBL proteins: 
     ENSP00000265944   ENSP00000365479   ENSP00000365478   ENSP00000445909  

    MYO3A Human Recombinant Protein Products:

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    Novus Biologicals MYO3A Proteins
    Novus Biologicals MYO3A Lysate
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    Browse Sino Biological Cell Lysates
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    Cloud-Clone Corp. Proteins for MYO3A

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    ThermoFisher Antibodies for MYO3A
    LSBio Antibodies in human, mouse, rat for MYO3A

    MYO3A Assay Products:

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    Cloud-Clone Corp. ELISAs for MYO3A
    Cloud-Clone Corp. CLIAs for MYO3A


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    MYOIII: Myosins / Myosin superfamily : Class III

    IUPHAR Guide to PHARMACOLOGY protein family classification: myosin IIIA
    NinaC subfamily

    Selected InterPro protein domains (see all 7):
     IPR017441 Protein_kinase_ATP_BS
     IPR002290 Ser/Thr_dual-sp_kinase_dom
     IPR011009 Kinase-like_dom
     IPR000719 Prot_kinase_dom
     IPR027417 P-loop_NTPase

    Graphical View of Domain Structure for InterPro Entry Q8NEV4

    ProtoNet protein and cluster: Q8NEV4

    1 Blocks protein domain: IPB000048 IQ calmodulin-binding region

    UniProtKB/Swiss-Prot: MYO3A_HUMAN, Q8NEV4
    Similarity: In the N-terminal section; belongs to the protein kinase superfamily. STE Ser/Thr protein kinase
    family
    Similarity: Contains 3 IQ domains
    Similarity: Contains 1 myosin head-like domain
    Similarity: Contains 1 protein kinase domain


    MYO3A 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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: MYO3A_HUMAN, Q8NEV4
    Function: Probable actin-based motor with a protein kinase activity. Probably plays a role in vision and hearing
    Catalytic activity: ATP + a protein = ADP + a phosphoprotein

         Enzyme Numbers (IUBMB): EC 2.7.11.11 2 EC 2.7.112

         Gene Ontology (GO): Selected molecular function terms (see all 13):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000146microfilament motor activity IMP17021180
    GO:0003774motor activity ----
    GO:0004672protein kinase activity IDA12672820
    GO:0004674protein serine/threonine kinase activity IEA--
    GO:0004713protein tyrosine kinase activity ----
         
    MYO3A for ontologies           About GeneDecksing


    Phenotypes:
         8 GenomeRNAi human phenotypes for MYO3A:
     Decreased CYP1A1 activity afte  Decreased mitotic index  Decreased substrate adherent c  High actin ratio cells 
     Increased HPV18 LCR reporter a  Increased Salmonella enterica   Increased Salmonella enterica   Increased Salmonella enterica  

         2 MGI mutant phenotypes (inferred from 1 allele(MGI details for Myo3a):
     hearing/vestibular/ear  nervous system 

    MYO3A for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for MYO3A
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for MYO3A

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for MYO3A
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for MYO3A

    miRNA
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    Block miRNA regulation of human, mouse, rat MYO3A using miScript Target Protectors
    1 qRT-PCR Assays for microRNA that regulate MYO3A:
    hsa-miR-143
    SwitchGear 3'UTR luciferase reporter plasmidMYO3A 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for MYO3A
    Predesigned siRNA for gene silencing in human, mouse, rat MYO3A

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for MYO3A

    Clone
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    OriGene clones in human, mouse for MYO3A (see all 6)
    OriGene ORF clones in mouse, rat for MYO3A
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: MYO3A (NM_017433)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MYO3A
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MYO3A

    Cell Line
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MYO3A


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    MYO3A_HUMAN, Q8NEV4: Cytoplasm, cytoskeleton
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    cytosol3
    nucleus1
    peroxisome1

    Gene Ontology (GO): Selected cellular component terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001917photoreceptor inner segment IEA--
    GO:0005737cytoplasm IEA--
    GO:0016459myosin complex IEA--
    GO:0030175filopodium IDA17021180
    GO:0031941filamentous actin IDA12672820

    MYO3A for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for MYO3A 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
    3RhoGDI Pathway
    Fc-GammaR-Mediated Phagocytosis in Macrophages0.33
    RhoGDI Pathway0.33
    4ERK Signaling
    ILK Signaling0.49
    5Sweet Taste Signaling
    Cellular Effects of Sildenafil0.46

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for MYO3A (see all 11)
        RhoA Pathway
    Antioxidant Action of Vitamin-C
    Transendothelial Migration of Leukocytes
    Actin Nucleation by ARP-WASP Complex
    Epithelial Adherens Junctions


        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for MYO3A
    Interactions:

        Search GeneGlobe Interaction Network for MYO3A

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for MYO3A (Q8NEV43 ENSP000002659444) via UniProtKB, MINT, STRING, and/or I2D (see all 62)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TGFBR1P368973, ENSP000003641334I2D: score=3 STRING: ENSP00000364133
    MYZAPP0CAP13I2D: score=3 
    POLR2MP0CAP23I2D: score=3 
    AXIN2Q9Y2T13I2D: score=1 
    NKD1Q969G93I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006200ATP catabolic process IDA12672820
    GO:0006468protein phosphorylation ----
    GO:0007601visual perception IEA--
    GO:0007605sensory perception of sound IMP12032315
    GO:0018105peptidyl-serine phosphorylation IEA--

    MYO3A for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for MYO3A

    2 HMDB Compounds for MYO3A    About this table
    CompoundSynonyms CAS #PubMed Ids
    ADPadenosindiphosphorsaeure (see all 8)58-64-0--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--

    1 Novoseek inferred chemical compound relationship for MYO3A gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    atp 38.5 7 20192276 (3), 17012748 (2)



    MYO3A for compounds           About GeneDecksing



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for MYO3A gene: 
    NM_017433.4  

    Unigene Cluster for MYO3A:

    Myosin IIIA
    Hs.662630  [show with all ESTs]
    Unigene Representative Sequence: NM_017433
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000265944(uc009xko.1 uc001isn.2 uc009xkp.1 uc009xkq.1)
    ENST00000376302(uc001ism.2) ENST00000376301 ENST00000477691 ENST00000478093
    ENST00000543632
    miRNA
    Products:
         
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    1 qRT-PCR Assays for microRNA that regulate MYO3A:
    hsa-miR-143
    SwitchGear 3'UTR luciferase reporter plasmidMYO3A 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for MYO3A
    Predesigned siRNA for gene silencing in human, mouse, rat MYO3A
    Clone
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    GenScript: all cDNA clones in your preferred vector: MYO3A (NM_017433)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MYO3A
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MYO3A
    Primer
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat MYO3A
      QuantiTect SYBR Green Assays in human, mouse, rat MYO3A
      QuantiFast Probe-based Assays in human, mouse, rat MYO3A

    Additional mRNA sequence: 

    AF229172.1 AK310468.1 AK310494.1 AY101367.1 BC036079.1 BC045538.1 BC119811.1 

    5 DOTS entries:

    DT.92416991  DT.95186117  DT.102825991  DT.65285162  DT.65285711 

    Selected AceView cDNA sequences (see all 45):

    AW196373 AA460328 BX103331 AW449678 BX108281 BQ636515 BI962761 BC045538 
    AI554043 AW002980 BI789252 AA476697 BM128772 AA443280 AW237052 BC036079 
    AA460390 CK903348 AI887923 BF592767 BM129003 CK903349 AY101367 AA903995 

    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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    MYO3A expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGGTTTGGCA
    MYO3A Expression
    About this image


    MYO3A expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     
     Blood (Hematopoietic System)
             Small Pre B-Cells Hematopoietic Bone Marrow
    MYO3A Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MYO3A Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.662630

    UniProtKB/Swiss-Prot: MYO3A_HUMAN, Q8NEV4
    Tissue specificity: Strongest expression in retina, retinal pigment epithelial cells, cochlea and pancreas

        Custom PCR Arrays for MYO3A
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    QuantiFast Probe-based Assays in human, mouse, rat MYO3A
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MYO3A

    (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)
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    This gene was present in the common ancestor of animals.

    Orthologs for MYO3A gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Myo3a1 , 5 myosin IIIA1, 5 84.37(n)1
    81.9(a)1
      2 (15.15 cM)5
    6676631  NM_148413.31  NP_680779.31 
     222275055 
    chicken
    (Gallus gallus)
    Aves MYO3A1 myosin IIIA 71.92(n)
    70.65(a)
      420494  XM_418597.4  XP_418597.3 
    lizard
    (Anolis carolinensis)
    Reptilia MYO3A6
    myosin IIIA
    63(a)
    1 ↔ 1
    6(14849268-14972096)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia myo3a1 myosin IIIA 65.55(n)
    65(a)
      100495574  XM_002933143.2  XP_002933189.2 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.125852 Danio rerio myosin IIIA (myo3a) mRNA, complete cds 73.43(n)    AF384863.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta ninaC1 , 3 adaptation of rhodopsin mediated
    signaling protein more3
    neither inactivation nor afterpotential C1
    35(a)3
    46.13(n)1
    37.73(a)1
      27F33
    340121  NM_078779.31  NP_523503.21 


    ENSEMBL Gene Tree for MYO3A (if available)
    TreeFam Gene Tree for MYO3A (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for MYO3A gene
    MYO9A2  MYO5C2  MYO102  MYO7A2  MYO162  MYO9B2  MYO5A2  MYO7B2  
    PLEKHH32  MYO5B2  MYO62  MYO3B2  
    Selected SIMAP similar genes for MYO3A using alignment to 6 protein entries:     MYO3A_HUMAN (see all proteins) (see all similar genes):
    MYO3B    MINK1    STK4/SLC36AL fusion    DKFZp686J1430    TNIK    MAP4K4
    STK25    MAP4K3    STK3    MYO1B    STK4    MAP4K5
    MST4    STK24    MYO10    TAOK3    NRK    MAP4K1

    MYO3A 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for MYO3A (see all 6277)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 10 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0408774
    An ovarian serous carcinoma sample4--see VAR_0408772 S R mis40--------
    VAR_0408834
    A renal clear cell carcinoma sample4--see VAR_0408832 D H mis40--------
    VAR_0408754
    An ovarian mucinous carcinoma sample4--see VAR_0408752 N K mis40--------
    rs1814176871,2
    --25880928(+) TATAGC/TAATTA 1 -- us2k10--------
    rs1475194471,2
    C--25880964(+) TTCACC/TACTAA 1 -- us2k10--------
    rs1393475621,2
    --25881042(+) AAAGTC/TTAATG 1 -- us2k10--------
    rs1853009221,2
    --25881096(+) TCTGGC/TATAAC 1 -- us2k10--------
    rs110148631,2
    C,F,A,H--25881104(+) AACAGA/GAGACG 1 -- us2k1 tfbs328Minor allele frequency- G:0.46NS EA NA WA CSA 2775
    rs768717311,2
    C--25881257(+) CCTCCC/TGAAAT 1 -- us2k10--------
    rs1908933781,2
    C--25881258(+) CTCCCA/GAAATG 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for MYO3A (26223002 - 26473002 bp, first 250kb of MYO3A)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for MYO3A (see all 15):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2734317CNV Deletion23290073
    esv2668519CNV Deletion23128226
    esv2734328CNV Deletion23290073
    esv2670069CNV Deletion23128226
    dgv5e194CNV Deletion18987734
    esv2568953CNV Deletion19546169
    esv3713CNV Deletion18987735
    esv2658499CNV Deletion23128226
    esv2734306CNV Deletion23290073
    esv273872CNV Insertion20981092

    Human Gene Mutation Database (HGMD): MYO3A
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing MYO3A
    DNA2.0 Custom Variant and Variant Library Synthesis for MYO3A

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

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    OMIM gene information: 606808   
    OMIM disorders: 607101  
    UniProtKB/Swiss-Prot: MYO3A_HUMAN, Q8NEV4
  • Deafness, autosomal recessive, 30 (DFNB30) [MIM:607101]: A form of non-syndromic deafness characterized
    by bilateral progressive hearing loss, which first affects the high frequencies. Hearing loss begins in the
    second decade, and by age 50 is severe in high and middle frequencies and moderate at low frequencies. Note=The
    disease is caused by mutations affecting the gene represented in this entry

  • 18 diseases for MYO3A:    
    About MalaCards
    deafness, autosomal recessive 30    dfnb30 nonsyndromic hearing loss and deafness    nonsyndromic hearing loss and deafness, autosomal recessive    deafness, autosomal recessive 76
    nonsyndromic hearing loss and deafness    anxiety disorder    deafness and hereditary hearing loss    nonsyndromic deafness
    sensorineural hearing loss    rheumatoid arthritis    arthritis    retinitis
    colorectal cancer    obesity    alzheimer's disease    multiple myeloma
    myeloma    malaria

    1 disease from the University of Copenhagen DISEASES database for MYO3A:
    Nonsyndromic deafness

    MYO3A for disorders           About GeneDecksing

    Genetic Association Database (GAD): MYO3A
    Human Genome Epidemiology (HuGE) Navigator: MYO3A (5 documents)

    Export disorders for MYO3A 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

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    PubMed articles for MYO3A gene, integrated from 10 sources (see all 28):
    (articles sorted by number of sources associating them with MYO3A)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning and chromosomal localization of a human class III myosin. (PubMed id 10936054)1, 2, 3, 9 Dose A.C. and Burnside B. (Genomics 2000)
    2. Genome-wide association study for colorectal cancer identifies risk polymorphisms in German familial cases and implicates MAPK signalling pathways in disease susceptibility. (PubMed id 20610541)1, 4 Lascorz J....Hemminki K. (Carcinogenesis 2010)
    3. Supervised machine learning and logistic regression identifies novel epistatic risk factors with PTPN22 for rheumatoid arthritis. (PubMed id 20090771)1, 4 Briggs F.B....Barcellos L.F. (Genes Immun. 2010)
    4. Polymorphisms in the GAD2 gene-region are associated with susceptibility for unipolar depression and with a risk factor for anxiety disorders. (PubMed id 19229853)1, 4 Unschuld P.G....Binder E.B. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2009)
    5. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. (PubMed id 16385451)1, 4 Grupe A....Goate A. (Am. J. Hum. Genet. 2006)
    6. The DNA sequence and comparative analysis of human chromosome 10. (PubMed id 15164054)1, 2 Deloukas P.... Rogers J. (Nature 2004)
    7. From flies' eyes to our ears: mutations in a human class III myosin cause progressive nonsyndromic hearing loss DFNB30. (PubMed id 12032315)1, 2 Walsh T.... Avraham K.B. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    8. The kinase domain alters the kinetic properties of the myosin IIIA motor. (PubMed id 18229949)1, 9 DosAc A.C....Yengo C.M. (Biochemistry 2008)
    9. Kinetic mechanism of human myosin IIIA. (PubMed id 17074769)1, 9 DosAc A.C....Yengo C.M. (J. Biol. Chem. 2007)
    10. Human myosin III is a motor having an extremely high affinity for actin. (PubMed id 17012748)1, 9 Kambara T....Ikebe M. (J. Biol. Chem. 2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    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

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    Entrez Gene: 53904 HGNC: 7601 AceView: MYO3A Ensembl:ENSG00000095777 euGenes: HUgn53904
    ECgene: MYO3A H-InvDB: MYO3A

    (According to HUGE)
    About This Section

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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for MYO3A Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

    TryGeneCards Plus
    Patent Information for MYO3A gene:
    Search GeneIP for patents involving MYO3A

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



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