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MYO6 Gene

protein-coding   GIFtS: 69
GCID: GC06P076515

Myosin VI

(Previous names: deafness, autosomal recessive 37)
(Previous symbols: DFNA22, DFNB37)
  See MYO6-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 VI1 2     Deafness, Autosomal Recessive 371
DFNA221 2 5     myosin-VI2
DFNB371 2 5     Unconventional Myosin-VI2
Unconventional Myosin-62 3     KIAA03893

External Ids:    HGNC: 76051   Entrez Gene: 46462   Ensembl: ENSG000001965867   OMIM: 6009705   UniProtKB: Q9UM543   

Export aliases for MYO6 gene to outside databases

Previous GC identifers: GC06P076406 GC06P076454 GC06P073657


(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 MYO6 Gene:
This gene encodes a protein involved intracellular vesicle and organelle transport, especially in the hair cell of
the inner ear. Mutations in this gene have been found in patients with non-syndromic autosomal dominant and
recessive hearing loss. (provided by RefSeq, Jul 2008)

GeneCards Summary for MYO6 Gene:
MYO6 (myosin VI) is a protein-coding gene. Diseases associated with MYO6 include dfnb37 nonsyndromic hearing loss and deafness, and deafness, autosomal recessive 37. GO annotations related to this gene include actin binding and actin filament binding. An important paralog of this gene is MYO3A.

UniProtKB/Swiss-Prot: MYO6_HUMAN, Q9UM54
Function: Myosins are actin-based motor molecules with ATPase activity. Unconventional myosins serve in
intracellular movements. Myosin 6 is a reverse-direction motor protein that moves towards the minus-end of actin
filaments. Has slow rate of actin-activated ADP release due to weak ATP binding. Functions in a variety of
intracellular processes such as vesicular membrane trafficking and cell migration. Required for the structural
integrity of the Golgi apparatus via the p53-dependent pro-survival pathway. Appears to be involved in a very
early step of clathrin-mediated endocytosis in polarized epithelial cells. May act as a regulator of F-actin
dynamics. May play a role in transporting DAB2 from the plasma membrane to specific cellular targets. Required
for structural integrity of inner ear hair cells (By similarity)

Gene Wiki entry for MYO6 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 at NCBI GenBank:
NC_000006.11  NT_025741.16  NC_018917.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the MYO6 gene promoter:
         AP-2alpha isoform 3   p53   AP-2alpha isoform 2   POU2F1b   POU2F1a   AP-2alpha isoform 4   POU2F1c   AP-2alpha   AP-2alphaA   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMYO6 promoter sequence
   Search Chromatin IP Primers for MYO6

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MYO6


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

Entrez Gene cytogenetic band: 6q13   Ensembl cytogenetic band:  6q14.1   HGNC cytogenetic band: 6q14.1

MYO6 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MYO6 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06P076515:  view genomic region     (about GC identifiers)

Start:
76,458,909 bp from pter      End:
76,629,254 bp from pter
Size:
170,346 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, 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: MYO6_HUMAN, Q9UM54 (See protein sequence)
Recommended Name: Unconventional myosin-VI  
Size: 1294 amino acids; 149691 Da
Subunit: Homodimer. Binding to calmodulin through a unique insert, not found in other myosins, located in the neck
region between the motor domain and the IQ domain appears to contribute to the directionality reversal. This
interaction occurs only if the C-terminal lobe of calmodulin is occupied by calcium. Interaction with
F-actin/ACTN1 occurs only at the apical brush border domain of the proximal tubule cells (By similarity).
Interacts with DAB2. In vitro, the C-terminal globular tail binds a C-terminal region of DAB2. Interacts with
CFTR. Forms a complex with CFTR and DAB2 in the apical membrane of epithelial cells. Interacts with OPTN (By
similarity)
Caution: Represents an unconventional myosin. This protein should not be confused with the conventional myosin-6
(MYH6)
Sequence caution: Sequence=BAA20843.2; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Secondary accessions: A6H8V4 E1P540 Q5TEM5 Q5TEM6 Q5TEM7 Q9BZZ7 Q9UEG2
Alternative splicing: 6 isoforms:  Q9UM54-3   Q9UM54-1   Q9UM54-2   Q9UM54-4   Q9UM54-5   Q9UM54-6   

Explore the universe of human proteins at neXtProt for MYO6: NX_Q9UM54

Explore proteomics data for MYO6 at MOPED

Post-translational modifications: 

  • Phosphorylation in the motor domain, induced by EGF, results in translocation of MYO6 from the cell surface to
    membrane ruffles and affects F-actin dynamics. Phosphorylated in vitro by p21-activated kinase (PAK) (By
    similarity)1
  • Ubiquitination2 at Lys425, Lys646, Lys750, Lys755, Lys1067, Lys1132, Lys1183
  • Modification sites at PhosphoSitePlus

  • See MYO6 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_004990.3  
    ENSEMBL proteins: 
     ENSP00000359002   ENSP00000358994   ENSP00000358992   ENSP00000399406   ENSP00000358998  
    Reactome Protein details: Q9UM54

    MYO6 Human Recombinant Protein Products:

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    Cloud-Clone Corp. Proteins for MYO6

     
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    Search eBioscience for ELISAs for MYO6 


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

    3 InterPro protein domains:
     IPR027417 P-loop_NTPase
     IPR000048 IQ_motif_EF-hand-BS
     IPR001609 Myosin_head_motor_dom

    Graphical View of Domain Structure for InterPro Entry Q9UM54

    ProtoNet protein and cluster: Q9UM54

    1 Blocks protein domain: IPB000048 IQ calmodulin-binding region

    UniProtKB/Swiss-Prot: MYO6_HUMAN, Q9UM54
    Domain: Divided into three regions: a N-terminal motor (head) domain, followed by a neck domain consisting of a
    calmodulin-binding linker domain and a single IQ motif, and a C-terminal tail region with a coiled-coil and a
    unique globular domain required for interaction with other proteins
    Similarity: Contains 1 IQ domain
    Similarity: Contains 1 myosin head-like domain


    Find genes that share domains with MYO6           About GenesLikeMe


    (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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: MYO6_HUMAN, Q9UM54
    Function: Myosins are actin-based motor molecules with ATPase activity. Unconventional myosins serve in
    intracellular movements. Myosin 6 is a reverse-direction motor protein that moves towards the minus-end of actin
    filaments. Has slow rate of actin-activated ADP release due to weak ATP binding. Functions in a variety of
    intracellular processes such as vesicular membrane trafficking and cell migration. Required for the structural
    integrity of the Golgi apparatus via the p53-dependent pro-survival pathway. Appears to be involved in a very
    early step of clathrin-mediated endocytosis in polarized epithelial cells. May act as a regulator of F-actin
    dynamics. May play a role in transporting DAB2 from the plasma membrane to specific cellular targets. Required
    for structural integrity of inner ear hair cells (By similarity)

         Genatlas biochemistry entry for MYO6:
    myosin 6,unconventional,motor contractile protein moving in the reverse duection,toward the "minus" end of actin
    track,apparently non filamentous,mouse Myo6 ortholog responsible for deafness in Snell waltzer mice expressed in
    fetal cochlea (articular plate of hair cells) and brain

         Gene Ontology (GO): Selected molecular function terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003774motor activity ISS--
    GO:0003779actin binding TAS10519557
    GO:0005515protein binding IPI11447109
    GO:0005516calmodulin binding TAS12857860
    GO:0005524ATP binding IEA--
         
    Find genes that share ontologies with MYO6           About GenesLikeMe


    Phenotypes:
         2 GenomeRNAi human phenotypes for MYO6:
     Decreased POU5F1-GFP protein e  Decreased focal adhesion (FA)  

         Selected MGI mutant phenotypes (inferred from 8 alleles(MGI details for Myo6) (see all 18):
     adipose tissue  behavior/neurological  cardiovascular system  craniofacial  endocrine/exocrine gland 
     growth/size/body  hearing/vestibular/ear  hematopoietic system  homeostasis/metabolism  immune system 
     integument  mortality/aging  muscle  nervous system  other 

    Find genes that share phenotypes with MYO6           About GenesLikeMe

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for MYO6
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       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for MYO6

    miRNA
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    miRTarBase miRNAs that target MYO6:
    hsa-mir-320a (MIRT044611), hsa-mir-155-5p (MIRT020824), hsa-mir-143-3p (MIRT000458), hsa-mir-22-3p (MIRT050462), hsa-mir-335-5p (MIRT018339), hsa-mir-324-3p (MIRT042992), hsa-mir-145-5p (MIRT000457), hsa-mir-92a-3p (MIRT049595)

    Block miRNA regulation of human, mouse, rat MYO6 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate MYO6 (see all 41):
    hsa-miR-579 hsa-miR-4328 hsa-miR-146a hsa-miR-3171 hsa-miR-890 hsa-miR-183* hsa-miR-23a hsa-miR-510
    Browse SwitchGear 3'UTR luciferase reporter plasmids
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    (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
    MYO6_HUMAN, Q9UM54: Golgi apparatus, trans-Golgi network membrane; Peripheral membrane protein. Golgi apparatus
    (By similarity). Nucleus. Cytoplasm, perinuclear region. Membrane, clathrin-coated pit. Cell projection, ruffle
    membrane; Peripheral membrane protein. Note=Also present in endocyctic vesicles, and membrane ruffles.
    Translocates from membrane ruffles, endocytic vesicles and cytoplasm to Golgi apparatus, perinuclear membrane and
    nucleus through induction by p53 and p53-induced DNA damage. Recruited into membrane ruffles from cell surface by
    EGF-stimulation. Colocalizes with DAB2 in clathrin-coated pits/vesicles. Colocalizes with OPTN at the Golgi
    complex and in vesicular structures close to the plasma membrane (By similarity)
    MYO6_HUMAN, Q9UM54: Isoform 3: Cytoplasmic vesicle, clathrin-coated vesicle membrane
    MYO6_HUMAN, Q9UM54: Isoform 4: Cytoplasmic vesicle, clathrin-coated vesicle membrane. Cell projection, ruffle
    membrane
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    golgi apparatus5
    nucleus5
    plasma membrane5
    cytosol4
    lysosome4
    vacuole4
    endosome2

    Gene Ontology (GO): Selected cellular component terms (see all 30):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001726ruffle IDA16507995
    GO:0005634nucleus IDA16507995
    GO:0005654nucleoplasm IDA16948370
    GO:0005737cytoplasm ISS--
    GO:0005765lysosomal membrane TAS--

    Find genes that share ontologies with MYO6           About GenesLikeMe


    (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 MYO6 About   (see all 14)  
    See pathways by source

    SuperPathContained pathways About
    1Clathrin dependent protein traffic
    Clathrin dependent protein traffic0.66
    wtCFTR and delta508 traffic Clathrin coated vesicles formation norm and CF 0.35
    Transport Clathrin coated vesicle cycle0.66
    2Gap junction trafficking
    Gap junction trafficking0.93
    Gap junction degradation0.00
    Gap junction trafficking and regulation0.93
    3Transmission across Chemical Synapses
    Transmission across Chemical Synapses0.72
    Neuronal System0.68
    Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell0.72
    4PAK Pathway
    PAK Pathway0.56
    Epithelial Adherens Junctions0.36
    Antioxidant Action of Vitamin-C0.56
    5Actin Nucleation by ARP-WASP Complex
    Actin Nucleation by ARP-WASP Complex0.66
    RhoA Pathway0.35


    Find genes that share SuperPaths with MYO6           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for MYO6 (see all 11)
        RhoA Pathway
    Antioxidant Action of Vitamin-C
    Transendothelial Migration of Leukocytes
    Actin Nucleation by ARP-WASP Complex
    Epithelial Adherens Junctions

    1 Cell Signaling Technology (CST) Pathway for MYO6
        Cytoskeletal Signaling

    2 GeneGo (Thomson Reuters) Pathways for MYO6
        wtCFTR and delta508 traffic / Clathrin coated vesicles formation (norm and CF)
    Transport Clathrin-coated vesicle cycle

    1 BioSystems Pathway for MYO6
        Stabilization and expansion of the E-cadherin adherens junction

    2 Reactome Pathways for MYO6
        Gap junction degradation
    Trafficking of AMPA receptors


        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for MYO6
    Interactions:

        GeneGlobe Interaction Network for MYO6

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

    Selected Interacting proteins for MYO6 (Q9UM541, 2, 3 ENSP000003589944) via UniProtKB, MINT, STRING, and/or I2D (see all 110)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    DAB2P980821, 3, ENSP000003133914EBI-350606,EBI-1171238 I2D: score=2 STRING: ENSP00000313391
    RNF11Q9Y3C52, 3MINT-60870 I2D: score=3 
    IKBKEQ141642, 3MINT-48112 I2D: score=2 
    IKBKGQ9Y6K92, 3MINT-48183 I2D: score=2 
    MAP3K3Q997592, 3MINT-48455 I2D: score=2 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 21):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006605protein targeting IEA--
    GO:0006886intracellular protein transport ISS--
    GO:0006897endocytosis ISS--
    GO:0007268synaptic transmission TAS--
    GO:0007416synapse assembly IEA--

    Find genes that share ontologies with MYO6           About GenesLikeMe



    (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 MYO6

    1 HMDB Compound for MYO6    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--

    6 Novoseek inferred chemical compound relationships for MYO6 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    adp 50.5 11 15123708 (2), 17510632 (2), 18509050 (2), 11423557 (1) (see all 7)
    atp 39.1 10 11517222 (2), 18046460 (2), 15247304 (1), 15006355 (1) (see all 7)
    calcium 0 4 12682054 (2), 17846066 (1), 15037754 (1)
    threonine 0 2 9603982 (1), 10820029 (1)
    glutamate 0 2 15657400 (1), 19895665 (1)
    serine 0 2 9603982 (1), 10820029 (1)



    Find genes that share compounds with MYO6           About GenesLikeMe



    (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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for MYO6 gene: 
    NM_004999.3  

    Unigene Cluster for MYO6:

    Myosin VI
    Hs.149387  [show with all ESTs]
    Unigene Representative Sequence: NM_004999
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000369985 ENST00000369977 ENST00000369975 ENST00000462633 ENST00000430435
    ENST00000369981(uc003pig.1 uc003pih.1 uc003pii.1 uc003pij.1)

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    Additional mRNA sequence: 

    AB002387.1 AK095294.1 BC012598.1 BC146764.1 BX647397.1 L29145.1 U90236.2 

    9 DOTS entries:

    DT.444939  DT.91728773  DT.91772645  DT.100787939  DT.100787938  DT.100787943  DT.100787941  DT.86851904 
    DT.97814114 

    Selected AceView cDNA sequences (see all 308):

    BQ718169 AW614329 CA843938 AA365002 AA429372 BE695025 BX098122 AA503650 
    AW772647 CA775843 BM929375 BE673383 H88721 AA365146 BF059272 AI357971 
    AA861190 BF437416 BF431331 BX505326 AU129187 BM142226 AW473956 BF812641 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for MYO6    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^ 25 ^ 26 ^
    SP1:                                                                                                                                                            
    SP2:                                                                                                                                                            
    SP3:                                                                                                                                                            

    ExUns: 27 ^ 28 ^ 29 ^ 30 ^ 31 ^ 32a · 32b ^ 33a · 33b · 33c
    SP1:        -                       -                           
    SP2:                          -     -                           
    SP3:                                                            


    ECgene alternative splicing isoforms for MYO6

    (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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    MYO6 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CAGTCGCTGG
    MYO6 Expression
    About this image


    MYO6 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 6) fully expand
     
     NULL (Uncategorized)
             Vascular endothelial growth factor-induced cells
     
     Endothelium (Cardiovascular System)
             Human umbilical vein endothelial cells (HUVEC)
     
     Blood (Cardiovascular System)
             Definitive Hematopoietic Stem Cells Definitive Yolk Sac
     
     Brain (Nervous System)
             Myelinating Oligodendrocyte Cells Forebrain White Matter
     
     Yolk Sac (Extraembryonic Tissues)
             Definitive Hematopoietic Stem Cells Definitive Yolk Sac
    MYO6 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MYO6 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.149387

    UniProtKB/Swiss-Prot: MYO6_HUMAN, Q9UM54
    Tissue specificity: Expressed in most tissues examined including heart, brain, placenta, pancreas, spleen, thymus,
    prostate, testis, ovary, small intestine and colon. Highest levels in brain, pancreas, testis and small
    intestine. Also expressed in fetal brain and cochlea. Isoform 1 and isoform 2, containing the small insert, and
    isoform 4, containing neither insert, are expressed in unpolarized epithelial cells

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    (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 eukaryotes.

    Orthologs for MYO6 gene from Selected species (see all 19)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Myo61 , 5 myosin VI1, 5 88.48(n)1
    96.83(a)1
      9 (43.98 cM)5
    179201  NM_001039546.21  NP_001034635.21 
     801650315 
    chicken
    (Gallus gallus)
    Aves MYO61 myosin VI 81.77(n)
    90.6(a)
      395487  NM_204735.1  NP_990066.1 
    lizard
    (Anolis carolinensis)
    Reptilia MYO66
    myosin VI
    92(a)
    1 ↔ 1
    1(201027135-201184153)
    African clawed frog
    (Xenopus laevis)
    Amphibia BQ728062.12   -- 78.61(n)    BQ728062.1 
    zebrafish
    (Danio rerio)
    Actinopterygii myo6b1 myosin VIb 73.26(n)
    83.81(a)
      445472  NM_001004110.1  NP_001004110.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta jar1 , 3 pseudocleavage (sensu Insecta) actin
    binding3
    jaguar1
    51(a)3
    54.09(n)1
    53.28(a)1
      95F63
    428891  NM_001275976.11  NP_001262905.11 
    worm
    (Caenorhabditis elegans)
    Secernentea spe-153
    hum-81
    hum-81 50(a)
    (best of 2)3
    53.94(n)1
    48.93(a)1
      I(1446667-1465215)3
    1768721  NM_001028377.31  NP_001023548.11 
    Alicante grape
    (Vitis vinifera)
    eudicotyledons Vvi.60312 Vitis vinifera transcribed sequence with moderate similarity more 77.59(n)    CB976000.1 
    rice
    (Oryza sativa)
    Liliopsida Os.226772 Oryza sativa (japonica cultivar-group) cDNA clone0 more 74.65(n)    NM_195849.1 


    ENSEMBL Gene Tree for MYO6 (if available)
    TreeFam Gene Tree for MYO6 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for MYO6 gene
    MYO3A2  MYO9A2  MYO5C2  MYO102  MYO7A2  MYO162  MYO9B2  MYO5A2  
    MYO7B2  PLEKHH32  MYO5B2  MYO3B2  
    16 SIMAP similar genes for MYO6 using alignment to 3 protein entries:     MYO6_HUMAN (see all proteins):
    MYO5C    MYO10    MYO19    MYO1E    MYO1A    MYH9
    MYO1B    MYH11    MYO1D    MYO1F    MYO1C    MYH10
    MYH2    MYO5B    MYO7A    MYO5A

    Find genes that share paralogs with MYO6           About GenesLikeMe



    (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 MYO6 (see all 3367)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs289363911,2,4
    Deafness, sensorineural, with hypertrophic cardiomyopathy (DFNHCM)4--see VAR_0299882 mis40--------
    rs289363901,2,4
    Deafness, autosomal recessive, 37 (DFNB37)4--see VAR_0162092 mis40--------
    VAR_0121104
    Deafness, autosomal dominant, 22 (DFNA22)4--see VAR_0121102 C Y mis40--------
    rs122109631,2
    C,F,Hnon-pathogenic176563360(+) GCTAAT/CTTTTC 1 -- int119Minor allele frequency- C:0.11NS EA NA WA CSA EU 3547
    rs1110334311,2
    C,Fnon-pathogenic176590097(+) CACAAG/AGATCA 2 /K syn12Minor allele frequency- A:0.01WA NA 4666
    rs117564461,2
    C,F,Hnon-pathogenic176593965(+) GACGAC/TGAAGG 2 D syn1 ese34Minor allele frequency- T:0.05NS NA EU 6025
    rs22959361,2
    C,F,Hnon-pathogenic176614401(+) CAACCC/TGAATG 1 -- int118Minor allele frequency- T:0.22NA NS EA EU 3240
    rs412693231,2
    C,Fnon-pathogenic176642205(+) AGGACG/AACATG 2 /N /D mis14Minor allele frequency- A:0.01NA NS EU 5933
    rs724930381,2
    C,F--73665167(+) TGTGTG/ATATAT 1 -- int12Minor allele frequency- A:0.50WA CSA 4
    rs2014090361,2
    --73665180(+) TATAT-/ACATACA 1 -- int10--------

    HapMap Linkage Disequilibrium report for MYO6 (76458909 - 76629254 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for MYO6:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2618363CNV Deletion19546169
    dgv6907n71CNV Loss21882294
    dgv6908n71CNV Loss21882294

    Human Gene Mutation Database (HGMD): MYO6
    Locus Specific Mutation Databases (LSDB): MYO6

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing MYO6
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

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    OMIM gene information: 600970   
    OMIM disorders: 606346  607821  
    UniProtKB/Swiss-Prot: MYO6_HUMAN, Q9UM54
  • Deafness, autosomal dominant, 22 (DFNA22) [MIM:606346]: 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. DFNA22 is progressive and postlingual, with
    onset during childhood. By the age of approximately 50 years, affected individuals invariably have profound
    sensorineural deafness. Note=The disease is caused by mutations affecting the gene represented in this entry
  • Deafness, autosomal recessive, 37 (DFNB37) [MIM:607821]: 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
  • Deafness, sensorineural, with hypertrophic cardiomyopathy (DFNHCM) [MIM:606346]: An autosomal dominant
    sensorineural deafness associated with hypertrophic cardiomyopathy. Note=The disease is caused by mutations
    affecting the gene represented in this entry

  • 7 diseases for MYO6:    
    About MalaCards
    dfnb37 nonsyndromic hearing loss and deafness    deafness, autosomal recessive 37    deafness, autosomal dominant 22    dfna22 nonsyndromic hearing loss and deafness
    deafness, autosomal dominant 22, with hypertrophic cardiomyopathy    deafness, autosomal dominant 4b    deafness, autosomal recessive 76

    2 diseases from the University of Copenhagen DISEASES database for MYO6:
    Sensorineural hearing loss     Nonsyndromic deafness

    Find genes that share disorders with MYO6           About GenesLikeMe

    4 Novoseek inferred disease relationships for MYO6 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    deafness sensorineural 35.8 2 16507995 (1), 15123708 (1)
    stroke 17.9 9 15044955 (3), 17182734 (2), 15473855 (1), 18046460 (1) (see all 6)
    tumors 1.27 2 17071605 (1), 20353999 (1)
    ovarian cancer 0 3 15146066 (2), 16713372 (1)

    Genetic Association Database (GAD): MYO6
    Human Genome Epidemiology (HuGE) Navigator: MYO6 (5 documents)

    Export disorders for MYO6 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)
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    PubMed articles for MYO6 gene, integrated from 10 sources (see all 182):
    (articles sorted by number of sources associating them with MYO6)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. MYO6, the human homologue of the gene responsible for deafness in Snell's waltzer mice, is mutated in autosomal dominant nonsyndromic hearing loss. (PubMed id 11468689)1, 2, 3, 9 Melchionda S.... Gasparini P. (Am. J. Hum. Genet. 2001)
    2. Novel association of hypertrophic cardiomyopathy, sensorineural deafness, and a mutation in unconventional myosin VI (MYO6). (PubMed id 15060111)1, 2, 4 Mohiddin S.A.... Morell R.J. (J. Med. Genet. 2004)
    3. Characterization of unconventional MYO6, the human homologue of the gene responsible for deafness in Snell's waltzer mice. (PubMed id 9259267)1, 2, 3 Avraham K.B.... Jenkins N.A. (Hum. Mol. Genet. 1997)
    4. Myosin VI is a mediator of the p53-dependent cell survival pathway. (PubMed id 16507995)1, 2, 9 Jung E.J.... Chen X. (Mol. Cell. Biol. 2006)
    5. Myosin VI regulates endocytosis of the cystic fibrosis transmembrane conductance regulator. (PubMed id 15247260)1, 2, 9 Swiatecka-Urban A.... Stanton B.A. (J. Biol. Chem. 2004)
    6. Myosin VI isoform localized to clathrin-coated vesicles with a role in clathrin-mediated endocytosis. (PubMed id 11447109)1, 2, 9 Buss F.... Kendrick-Jones J. (EMBO J. 2001)
    7. Nuclear myosin VI enhances RNA polymerase II-dependent transcription. (PubMed id 16949370)1, 2, 9 Vreugde S.... Biffo S. (Mol. Cell 2006)
    8. A monomeric myosin VI with a large working stroke. (PubMed id 15044955)1, 2, 9 Lister I....Kendrick-Jones J. (EMBO J. 2004)
    9. Myosin VI is an actin-based motor that moves backwards. (PubMed id 10519557)1, 2, 9 Wells A.L.... Sweeney H.L. (Nature 1999)
    10. Human variation in alcohol response is influenced by variation in neuronal signaling genes. (PubMed id 20201926)1, 4 Joslyn G....White R.L. (Alcohol. Clin. Exp. Res. 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 4646 HGNC: 7605 AceView: MYO6 Ensembl:ENSG00000196586 euGenes: HUgn4646
    ECgene: MYO6 H-InvDB: MYO6

    (According to HUGE)
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    HUGE: KIAA0389

    (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 MYO6 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for MYO6 gene:
    Search GeneIP for patents involving MYO6

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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