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MYH9 Gene

protein-coding   GIFtS: 72
GCID: GC22M036677

Myosin, Heavy Chain 9, Non-Muscle

(Previous names: myosin, heavy polypeptide 9, non-muscle)
(Previous symbol: DFNA17)
  See MYH9-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, Heavy Chain 9, Non-Muscle1 2     FTNS2 5
DFNA171 2 5     MHA2 5
Nonmuscle Myosin Heavy Chain II-A1 2     Myosin, Heavy Polypeptide 9, Non-Muscle1
Cellular Myosin Heavy Chain, Type A2 3     EPSTS2
Myosin Heavy Chain 92 3     NMHC-II-A2
Myosin Heavy Chain, Non-Muscle IIa2 3     NMMHCA2
Non-Muscle Myosin Heavy Chain A2 3     myosin-92
Non-Muscle Myosin Heavy Chain IIa2 3     Non-Muscle Myosin Heavy Polypeptide 92
NMMHC-IIA2 3     NMMHC-A3
BDPLT62 5     NMMHC II-A3

External Ids:    HGNC: 75791   Entrez Gene: 46272   Ensembl: ENSG000001003457   OMIM: 1607755   UniProtKB: P355793   

Export aliases for MYH9 gene to outside databases

Previous GC identifers: GC22M033322 GC22M034949 GC22M035001 GC22M019645


(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 MYH9 Gene:
This gene encodes a conventional non-muscle myosin; this protein should not be confused with the unconventional
myosin-9a or 9b (MYO9A or MYO9B). The encoded protein is a myosin IIA heavy chain that contains an IQ domain and
a myosin head-like domain which is involved in several important functions, including cytokinesis, cell motility
and maintenance of cell shape. Defects in this gene have been associated with non-syndromic sensorineural
deafness autosomal dominant type 17, Epstein syndrome, Alport syndrome with macrothrombocytopenia, Sebastian
syndrome, Fechtner syndrome and macrothrombocytopenia with progressive sensorineural deafness. (provided by
RefSeq, Dec 2011)

GeneCards Summary for MYH9 Gene:
MYH9 (myosin, heavy chain 9, non-muscle) is a protein-coding gene. Diseases associated with MYH9 include myh9-related disorders, and myh9 related thrombocytopenia. GO annotations related to this gene include calmodulin binding and protein homodimerization activity. An important paralog of this gene is MYH8.

UniProtKB/Swiss-Prot: MYH9_HUMAN, P35579
Function: Cellular myosin that appears to play a role in cytokinesis, cell shape, and specialized functions such
as secretion and capping. During cell spreading, plays an important role in cytoskeleton reorganization, focal
contacts formation (in the margins but not the central part of spreading cells), and lamellipodial retraction;
this function is mechanically antagonized by MYH10

summary for MYH9 Gene:
Myosins are a large family of motor proteins that share the common features of ATP hydrolysis, actin binding
and potential for kinetic energy transduction. Originally isolated from muscle cells (hence the name),
almost all eukaryotic cells are now known to contain myosins. Structurally, mysoins contain a head domain
that binds to actin filaments (microfilaments) and is the site of ATP hydrolysis. The tail domain interacts
with cargo molecules, and the neck acts as a linker between the head and tail and is the site of regulatory
myosin light chain binding. There are 17 myosin families and the most well characterized is myosin II.
Myosin II is found predominantly in myocytes and mediates plus-ended movement along microfilaments. It is
involved in muscle contraction through cyclic interactions with actin-rich thin filaments, creating a
contractile force. It is regulated by phosphorylation via myosin light chain kinase (MLCK) and by
intracellular Ca2+ concentrations.

Gene Wiki entry for MYH9 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_000022.10  NC_018933.2  NT_011520.13  
Regulatory elements:
   Regulatory transcription factor binding sites in the MYH9 gene promoter:
         Max1   USF1   MyoD   Tal-1beta   E47   c-Ets-1   USF-1   Cart-1   Pax-4a   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 3): MYH9 promoter sequence
   Search Chromatin IP Primers for MYH9

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MYH9


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

Entrez Gene cytogenetic band: 22q13.1   Ensembl cytogenetic band:  22q12.3   HGNC cytogenetic band: 22q13.1

MYH9 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MYH9 gene location

GeneLoc information about chromosome 22         GeneLoc Exon Structure

GeneLoc location for GC22M036677:  view genomic region     (about GC identifiers)

Start:
36,677,323 bp from pter      End:
36,784,063 bp from pter
Size:
106,741 bases      Orientation:
minus 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., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: MYH9_HUMAN, P35579 (See protein sequence)
Recommended Name: Myosin-9  
Size: 1960 amino acids; 226532 Da
Subunit: Interacts with PDLIM2 (By similarity). Interacts with SLC6A4 (By similarity). Myosin is a hexameric
protein that consists of 2 heavy chain subunits (MHC), 2 alkali light chain subunits (MLC) and 2 regulatory light
chain subunits (MLC-2). Interacts with RASIP1. Interacts with DDR1 (By similarity). Interacts with SVIL and HTRA3
Sequence caution: Sequence=CAD89954.1; Type=Frameshift; Positions=1890;
3 PDB 3D structures from and Proteopedia for MYH9:
2LNK (3D)        3ZWH (3D)        4ETO (3D)    
Secondary accessions: A8K6E4 O60805 Q60FE2 Q86T83
Alternative splicing: 2 isoforms:  P35579-1   P35579-2   

Explore the universe of human proteins at neXtProt for MYH9: NX_P35579

Explore proteomics data for MYH9 at MOPED

Post-translational modifications: 

  • ISGylated1
  • Ubiquitination2 at Lys8, Lys14, Lys38, Lys102, Lys186, Lys225, Lys261, Lys299, Lys373, Lys403,
                                 Lys637, Lys651, Lys682, Lys760, Lys810, Lys833, Lys835, Lys1234, Lys1392, Lys1445 (see all 21)
  • Modification sites at PhosphoSitePlus

  • See MYH9 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_002464.1  
    ENSEMBL proteins: 
     ENSP00000216181   ENSP00000384631   ENSP00000414852  
    Reactome Protein details: P35579

    MYH9 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    Browse OriGene Protein Over-expression Lysates
    OriGene Custom MassSpec
    OriGene Custom Protein Services for MYH9
    GenScript Custom Purified and Recombinant Proteins Services for MYH9
    Novus Biologicals MYH9 Proteins
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for MYH9

     
    Search eBioscience for Proteins for MYH9 

     
    antibodies-online proteins for MYH9 (12 products) 

     
    antibodies-online peptides for MYH9

    MYH9 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of MYH9
    Browse R&D Systems for Antibodies
    Cell Signaling Technology (CST) Antibodies for MYH9 
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for MYH9
    Novus Biologicals MYH9 Antibodies
    Abcam antibodies for MYH9
    Cloud-Clone Corp. Antibodies for MYH9
    ThermoFisher Antibody for MYH9
    antibodies-online antibodies for MYH9 (74 products) 

    MYH9 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for MYH9
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for MYH9
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for MYH9
    Cloud-Clone Corp. CLIAs for MYH9
    Search eBioscience for ELISAs for MYH9 
    antibodies-online kits for MYH9 (16 products) 


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

    Selected InterPro protein domains (see all 7):
     IPR027401 Myosin-like_IQ_dom
     IPR004009 Myosin_N
     IPR027417 P-loop_NTPase
     IPR000048 IQ_motif_EF-hand-BS
     IPR002928 Myosin_tail

    Graphical View of Domain Structure for InterPro Entry P35579

    ProtoNet protein and cluster: P35579

    4 Blocks protein domains:
    IPB000048 IQ calmodulin-binding region
    IPB002017 Spectrin repeat
    IPB002928 Myosin tail
    IPB004009 Myosin N-terminal SH3-like domain


    UniProtKB/Swiss-Prot: MYH9_HUMAN, P35579
    Domain: The rodlike tail sequence is highly repetitive, showing cycles of a 28-residue repeat pattern composed of
    4 heptapeptides, characteristic for alpha-helical coiled coils
    Similarity: Contains 1 IQ domain
    Similarity: Contains 1 myosin head-like domain


    Find genes that share domains with MYH9           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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: MYH9_HUMAN, P35579
    Function: Cellular myosin that appears to play a role in cytokinesis, cell shape, and specialized functions such
    as secretion and capping. During cell spreading, plays an important role in cytoskeleton reorganization, focal
    contacts formation (in the margins but not the central part of spreading cells), and lamellipodial retraction;
    this function is mechanically antagonized by MYH10

         Genatlas biochemistry entry for MYH9:
    myosin,motor contractile protein moving towards the "plus" end of actin track,heavy polypeptide 9,non muscle

         Gene Ontology (GO): Selected molecular function terms (see all 16):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000146microfilament motor activity IDA12237319
    GO:0000166nucleotide binding ----
    GO:0003700sequence-specific DNA binding transcription factor activity ----
    GO:0003774motor activity NAS12421915
    GO:0003779actin binding IDA15065866
         
    Find genes that share ontologies with MYH9           About GenesLikeMe


    Phenotypes:
         2 GenomeRNAi human phenotypes for MYH9:
     Increased focal adhesion (FA)   Large cells 

         13 MGI mutant phenotypes (inferred from 16 alleles(MGI details for Myh9):
     cardiovascular system  cellular  embryogenesis  growth/size/body  hearing/vestibular/ear 
     hematopoietic system  homeostasis/metabolism  immune system  mortality/aging  nervous system 
     normal  renal/urinary system  vision/eye 

    Find genes that share phenotypes with MYH9           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for MYH9: Myh9tm1.2Gac Myh9tm1Maco

       genOway: Develop your customized and physiologically relevant rodent model for MYH9

    miRNA
    Products:
        
    miRTarBase miRNAs that target MYH9:
    hsa-mir-193b-3p (MIRT041494), hsa-mir-1296-5p (MIRT036109), hsa-mir-324-3p (MIRT042922), hsa-mir-9-5p (MIRT021471), hsa-mir-149-5p (MIRT045466), hsa-mir-484 (MIRT042190), hsa-mir-124-3p (MIRT002579), hsa-mir-877-3p (MIRT037181), hsa-mir-92a-3p (MIRT049384), hsa-mir-331-3p (MIRT043426)

    Block miRNA regulation of human, mouse, rat MYH9 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate MYH9 (see all 47):
    hsa-miR-194* hsa-miR-140-5p hsa-miR-3607-3p hsa-miR-300 hsa-miR-376b hsa-miR-25 hsa-miR-449a hsa-miR-10b*
    SwitchGear 3'UTR luciferase reporter plasmidMYH9 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for MYH9
    Predesigned siRNA for gene silencing in human, mouse, rat MYH9

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for MYH9

    Clone
    Products:
         
    OriGene clones in human, mouse for MYH9 (see all 5)
    OriGene ORF clones in mouse, rat for MYH9
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: MYH9 (NM_002473)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MYH9
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MYH9
    Addgene plasmids for MYH9 

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for MYH9
    Browse ESI BIO Cell Lines and PureStem Progenitors for MYH9 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MYH9


    (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
    MYH9_HUMAN, P35579: Cytoplasm, cytoskeleton (By similarity). Cytoplasm, cell cortex (By similarity).
    Note=Colocalizes with actin filaments at lamellipodia margins and at the leading edge of migrating cells
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    cytosol5
    extracellular5
    nucleus5
    plasma membrane5
    golgi apparatus1

    Gene Ontology (GO): Selected cellular component terms (see all 25):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001725stress fiber IDA14508515
    GO:0001726ruffle IDA16403913
    GO:0001772colocalizes with immunological synapse IDA15064761
    GO:0001931uropod IDA15064761
    GO:0005634nucleus IDA14508515

    Find genes that share ontologies with MYH9           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 MYH9 About   (see all 16)  
    See pathways by source

    SuperPathContained pathways About
    1Immune response CCR3 signaling in eosinophils
    Inhibitory action of Lipoxins on neutrophil migration0.51
    Immune response CCR3 signaling in eosinophils0.51
    2Cell adhesion Integrin mediated cell adhesion and migration
    Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases0.49
    Development MAG dependent inhibition of neurite outgrowth0.46
    Cell adhesion Integrin mediated cell adhesion and migration0.49
    Cell adhesion Tight junctions0.33
    3PAK Pathway
    PAK Pathway0.56
    Epithelial Adherens Junctions0.36
    Antioxidant Action of Vitamin-C0.56
    4Semaphorin interactions
    Sema4D in semaphorin signaling0.90
    Semaphorin interactions0.43
    Sema4D induced cell migration and growth-cone collapse0.90
    5Fcgamma receptor (FCGR) dependent phagocytosis
    Regulation of actin dynamics for phagocytic cup formation0.77
    Fcgamma receptor (FCGR) dependent phagocytosis0.77


    Find genes that share SuperPaths with MYH9           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for MYH9 (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 MYH9
        Cytoskeletal Signaling

    Selected GeneGo (Thomson Reuters) Pathways for MYH9 (see all 6)
        Cell adhesion Integrin-mediated cell adhesion and migration
    Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases
    Inhibitory action of Lipoxins on neutrophil migration
    Immune response CCR3 signaling in eosinophils
    Cell adhesion Tight junctions

    2 Reactome Pathways for MYH9
        Sema4D induced cell migration and growth-cone collapse
    Regulation of actin dynamics for phagocytic cup formation


    3 Kegg Pathways  (Kegg details for MYH9):
        Tight junction
    Regulation of actin cytoskeleton
    Salmonella infection

        Pathway & Disease-focused RT2 Profiler PCR Arrays including MYH9: 
              Cell Surface Markers in human mouse rat
              Cell Motility in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for MYH9

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

    Selected Interacting proteins for MYH9 (P355791, 2, 3 ENSP000002161814) via UniProtKB, MINT, STRING, and/or I2D (see all 1109)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    NCLP193381, 2, 3, ENSP000003181954EBI-350338,EBI-346967 MINT-7945693 I2D: score=2 STRING: ENSP00000318195
    YWHAZP631042, 3, ENSP000003095034MINT-7899812 MINT-7900157 I2D: score=2 STRING: ENSP00000309503
    COPS5Q929052, 3, ENSP000003505124MINT-7945693 MINT-7947479 I2D: score=1 STRING: ENSP00000350512
    LMNAP025452, 3MINT-7945693 MINT-7899812 MINT-7947479 I2D: score=1 
    YWHAQP273482, 3, ENSP000002380814MINT-7899812 MINT-7900157 I2D: score=1 STRING: ENSP00000238081
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 28):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000212meiotic spindle organization IEA--
    GO:0000904cell morphogenesis involved in differentiation ----
    GO:0000910cytokinesis IMP15774463
    GO:0001525angiogenesis IDA16403913
    GO:0001701in utero embryonic development IEA--

    Find genes that share ontologies with MYH9           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 

    Compounds for MYH9 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    BTSSelective inhibitor of skeletal muscle myosin II ATPase activity[1576-37-0]
    (R)-(+)-BlebbistatinSelective inhibitor of myosin II ATPase activity. Inactive enantiomer of (+-)-blebbistatin (Cat. No. 1760)[1177356-70-5]
    (S)-(-)-BlebbistatinSelective inhibitor of myosin II ATPase activity. Active enantiomer of (+-)-blebbistatin (Cat. No. 1760)[856925-71-8]
    (+-)-BlebbistatinSelective inhibitor of myosin II ATPase activity[674289-55-5]

    4 Novoseek inferred chemical compound relationships for MYH9 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    phorbol 21.5 1 15496418 (1)
    calcium 0 1 18312684 (1)
    threonine 0 1 10945986 (1)
    tyrosine 0 1 19401332 (1)



    Find genes that share compounds with MYH9           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 MYH9 gene: 
    NM_002473.4  

    Unigene Cluster for MYH9:

    Myosin, heavy chain 9, non-muscle
    Hs.474751  [show with all ESTs]
    Unigene Representative Sequence: NM_002473
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000216181(uc003apg.3 uc003aph.1) ENST00000475726 ENST00000486218
    ENST00000459960 ENST00000495928 ENST00000473022 ENST00000477189 ENST00000472210
    ENST00000463027 ENST00000401701(uc003api.1) ENST00000456729
    miRNA
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    Block miRNA regulation of human, mouse, rat MYH9 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate MYH9 (see all 47):
    hsa-miR-194* hsa-miR-140-5p hsa-miR-3607-3p hsa-miR-300 hsa-miR-376b hsa-miR-25 hsa-miR-449a hsa-miR-10b*
    SwitchGear 3'UTR luciferase reporter plasmidMYH9 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat MYH9
    Clone
    Products:
         
    OriGene clones in human, mouse for MYH9 (see all 5)
    OriGene ORF clones in mouse, rat for MYH9
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: MYH9 (NM_002473)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MYH9
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MYH9
    Addgene plasmids for MYH9 
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for MYH9
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat MYH9
      QuantiTect SYBR Green Assays in human, mouse, rat MYH9
      QuantiFast Probe-based Assays in human, mouse, rat MYH9

    Additional mRNA sequence: 

    AB191263.1 AB290175.1 AK025219.1 AK025393.1 AK131080.1 AK291609.1 AK304840.1 BC011915.2 
    BC049849.1 BC090921.1 BC111387.1 BC113067.1 BC131741.1 CR456526.1 D11393.1 HQ326701.1 
    L29141.1 M31013.1 M69180.1 M81105.1 

    Selected DOTS entries (see all 58):

    DT.95126859  DT.119239  DT.92464957  DT.95347813  DT.97761844  DT.100659644  DT.100659636  DT.100659653 
    DT.91985714  DT.120655569  DT.95347783  DT.120655540  DT.100659655  DT.120655825  DT.120655658  DT.100659642 
    DT.120655748  DT.120655676  DT.91811745  DT.100659641  DT.102840742  DT.95347683  DT.97867641  DT.120655554 

    Selected AceView cDNA sequences (see all 1191):

    AW511520 CF137349 BE311756 BF806147 BQ433063 BQ440052 H55296 BG990930 
    AI908004 AK131080 BQ890597 AI431976 BQ672665 BQ232553 AA856897 CA429318 
    BQ007816 AI582363 W23678 BQ773542 BU538565 BM454409 CF454148 BM472152 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for MYH9 (see all 12)    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18a · 18b ^ 19a · 19b ^ 20 ^ 21 ^
    SP1:                                                  -                             -                                                                           
    SP2:              -                                   -                             -                                                                           
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                            

    ExUns: 22 ^ 23 ^ 24 ^ 25a · 25b ^ 26a · 26b ^ 27 ^ 28a · 28b ^ 29 ^ 30 ^ 31 ^ 32 ^ 33 ^ 34 ^ 35a · 35b ^ 36a · 36b ^ 37a · 37b ^ 38a · 38b · 38c ^ 39 ^
    SP1:                          -     -     -     -     -     -     -     -     -     -     -     -     -                                                         
    SP2:                                                                                                                                                            
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                  -     -   
    SP5:                                                                                                                                                            

    ExUns: 40a · 40b · 40c ^ 41a · 41b ^ 42a · 42b ^ 43 ^ 44a · 44b ^ 45a · 45b · 45c ^ 46a · 46b
    SP1:  -                                                                                       
    SP2:                                                                                          
    SP3:                                                                                          
    SP4:  -     -     -     -                                                                     
    SP5:  -           -     -     -     -                                                         


    ECgene alternative splicing isoforms for MYH9

    (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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    MYH9 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGCTAAAAAA
    MYH9 Expression
    About this image


    MYH9 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 22) fully expand
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Ovarian Mesenchymal Stroma Cells Ovary Interstitium
             Oviduct
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Brain (Nervous System)
             Cerebral Cortex
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Colon (Gastrointestinal Tract)
    MYH9 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MYH9 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.474751

    UniProtKB/Swiss-Prot: MYH9_HUMAN, P35579
    Tissue specificity: In the kidney, expressed in the glomeruli. Also expressed in leukocytes

        Pathway & Disease-focused RT2 Profiler PCR Arrays including MYH9: 
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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 animals and fungi.

    Orthologs for MYH9 gene from Selected species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Myh91 , 5 myosin, heavy polypeptide 9, non-muscle1, 5 90.51(n)1
    97.09(a)1
      15 (36.81 cM)5
    178861  NM_022410.31  NP_071855.21 
     777605875 
    chicken
    (Gallus gallus)
    Aves MYH91 myosin, heavy chain 9, non-muscle 80.91(n)
    92.75(a)
      396469  NM_205477.1  NP_990808.1 
    lizard
    (Anolis carolinensis)
    Reptilia MYH96
    myosin, heavy chain 9, non-muscle
    92(a)
    1 ↔ 1
    5(22047775-22130391)
    African clawed frog
    (Xenopus laevis)
    Amphibia AF055895.12   -- 76.39(n)    AF055895.1 
    zebrafish
    (Danio rerio)
    Actinopterygii BC045324.12   -- 77.88(n)   393797  BC045324.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta zip3 NOT muscle attachment myosin ATPase 61(a)     --
    worm
    (Caenorhabditis elegans)
    Secernentea nmy-13 myosin 50(a)
    (best of 6)
      X(2944856-2952845)   --
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes MYO16
    Type II myosin heavy chain, required for wild-type...
    29(a)
    1 → many
    VIII(151666-157452) YHR023W


    ENSEMBL Gene Tree for MYH9 (if available)
    TreeFam Gene Tree for MYH9 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for MYH9 gene
    MYH82  MYH12  MYH22  MYH112  MYH142  MYH102  MYH132  MYH7B2  
    MYH42  MYH32  MYH152  MYH62  MYH72  
    Selected SIMAP similar genes for MYH9 using alignment to 5 protein entries:     MYH9_HUMAN (see all proteins) (see all similar genes):
    FLJ00279    DKFZp686D10126    MYH11    MYH10    MYH14    MYO1C
    MYO1E    MYH7    MYO3B    MYO9B    MYO9B variant protein    MYO15A
    MYO9A    MYH6    MYH2    MYH13    MYH7B    MYO1G

    Find genes that share paralogs with MYH9           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for MYH9
    PGOHUM00000263186


    (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 MYH9 (see all 2780)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 22 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0183164
    Sebastian syndrome (SBS)4--see VAR_0183162 D N mis40--------
    VAR_0183104
    Sebastian syndrome (SBS)4--see VAR_0183102 K N mis40--------
    VAR_0107944
    May-Hegglin anomaly (MHA)4--see VAR_0107942 T I mis40--------
    VAR_0107934
    Deafness, autosomal dominant, 17 (DFNA17)4--see VAR_0107932 R H mis40--------
    VAR_0442264
    Fechtner syndrome (FTNS)4--see VAR_0442262 K Q mis40--------
    VAR_0183174
    May-Hegglin anomaly (MHA)4--see VAR_0183172 D Y mis40--------
    VAR_0107964
    May-Hegglin anomaly (MHA)4--see VAR_0107962 D H mis40--------
    VAR_0360064
    A breast cancer sample4--see VAR_0360062 K N mis40--------
    VAR_0107974
    Sebastian syndrome (SBS)4--see VAR_0107972 E K mis40--------
    VAR_0183114
    Epstein syndrome (EPS)4--see VAR_0183112 R H mis40--------

    HapMap Linkage Disequilibrium report for MYH9 (36677323 - 36784063 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for MYH9 (see all 11):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2724192CNV Deletion23290073
    esv2724191CNV Deletion23290073
    esv2665599CNV Deletion23128226
    esv1147593CNV Insertion17803354
    nsv915007CNV Loss21882294
    nsv834186CNV Loss17160897
    nsv523911CNV Loss19592680
    nsv834185CNV Loss17160897
    nsv523629CNV Loss19592680
    nsv522931CNV Gain19592680

    Human Gene Mutation Database (HGMD): MYH9
    Locus Specific Mutation Databases (LSDB): MYH9

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing MYH9
    DNA2.0 Custom Variant and Variant Library Synthesis for MYH9

    (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.)
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    OMIM gene information: 160775   
    OMIM disorders: 155100  153640  605249  603622  153650  600208  
    UniProtKB/Swiss-Prot: MYH9_HUMAN, P35579
  • May-Hegglin anomaly (MHA) [MIM:155100]: A disorder characterized by thrombocytopenia, giant platelets and
    Dohle body-like inclusions in peripheral blood leukocytes. appearing as highly parallel paracrystalline bodies.
    Note=The disease is caused by mutations affecting the gene represented in this entry
  • Sebastian syndrome (SBS) [MIM:605249]: Autosomal dominant macrothrombocytopenia characterized by
    thrombocytopenia, giant platelets and leukocyte inclusions that are smaller and less organized than in
    May-Hegglin anomaly. Note=The disease is caused by mutations affecting the gene represented in this entry
  • Fechtner syndrome (FTNS) [MIM:153640]: Autosomal dominant macrothrombocytopenia characterized by
    thrombocytopenia, giant platelets and leukocyte inclusions that are small and poorly organized. Additionally,
    FTNS is distinguished by Alport-like clinical features of sensorineural deafness, cataracts and nephritis.
    Note=The disease is caused by mutations affecting the gene represented in this entry
  • Alport syndrome, with macrothrombocytopenia (APSM) [MIM:153650]: An autosomal dominant disorder
    characterized by the association of ocular lesions, sensorineural hearing loss and nephritis (Alport syndrome)
    with platelet defects. Note=The disease is caused by mutations affecting the gene represented in this entry
  • Epstein syndrome (EPS) [MIM:153650]: An autosomal dominant disorder characterized by the association of
    macrothrombocytopathy, sensorineural hearing loss and nephritis. Note=The disease is caused by mutations
    affecting the gene represented in this entry
  • Deafness, autosomal dominant, 17 (DFNA17) [MIM:603622]: A form of deafness characterized by progressive
    high frequency hearing impairment and cochleosaccular degeneration. Note=The disease is caused by mutations
    affecting the gene represented in this entry
  • Macrothrombocytopenia and progressive sensorineural deafness (MPSD) [MIM:600208]: An autosomal dominant
    disorder characterized by the association of macrothrombocytopathy and progressive sensorineural hearing loss
    without renal dysfunction. Note=The disease is caused by mutations affecting the gene represented in this entry
  • Note=Subjects with mutations in the motor domain of MYH9 present with severe thrombocytopenia and develop
    nephritis and deafness before the age of 40 years, while those with mutations in the tail domain have a much
    lower risk of noncongenital complications and significantly higher platelet counts. The clinical course of
    patients with mutations in the four most frequently affected residues of MYH9 (responsible for 70% of
    MYH9-related cases) were evaluated. Mutations at residue 1933 do not induce kidney damage or cataracts and cause
    deafness only in the elderly, those in position 702 result in severe thrombocytopenia and produce nephritis and
    deafness at a juvenile age, while alterations at residue 1424 or 1841 result in intermediate clinical pictures
  • Note=Genetic variations in MYH9 are associated with non-diabetic end stage renal disease (ESRD)

  • 13 diseases for MYH9:    
    About MalaCards
    myh9-related disorders    myh9 related thrombocytopenia    deafness, autosomal dominant 17    macrothrombocytopenia and progressive sensorineural deafness
    dfna17 nonsyndromic hearing loss and deafness    mitochondrial complex v deficiency, mitochondrial 2    autosomal dominant alport syndrome    nonsyndromic hearing loss and deafness
    nonsyndromic hearing loss and deafness, mitochondrial    alport syndrome    mitochondrial complex v deficiency    bernard-soulier syndrome
    deafness, autosomal dominant 4b

    5 diseases from the University of Copenhagen DISEASES database for MYH9:
    Thrombocytopenia     Sensorineural hearing loss     Bernard-Soulier syndrome     Kidney disease
    Alport syndrome

    Find genes that share disorders with MYH9           About GenesLikeMe

    Selected Novoseek inferred disease relationships for MYH9 gene (see all 28)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    may-hegglin anomaly 97.7 30 12930685 (2), 19954613 (1), 11935325 (1), 11943476 (1) (see all 18)
    sebastian syndrome 96.9 6 11935325 (1), 19408192 (1), 10973259 (1), 11159552 (1) (see all 5)
    epsteins syndrome 96.5 11 11943476 (2), 11935325 (1), 17975807 (1), 19408192 (1) (see all 9)
    fechtner syndrome 96.3 8 11752022 (2), 17655694 (2), 18718080 (1), 19408192 (1)
    platelet disorder 82.7 5 11935325 (2), 19645626 (1), 16044442 (1)
    deafness sensorineural 75.6 3 19967157 (1), 10973259 (1), 17655694 (1)
    bernard-soulier syndrome 74.8 4 15477207 (1), 14706930 (1), 14635206 (1), 15529446 (1)
    alports syndrome 73.9 2 12454218 (1), 11590545 (1)
    nephritis 72.1 6 17975807 (1), 19967157 (1), 16978745 (1), 19645626 (1) (see all 6)
    thrombocytopenia 69.7 18 15667538 (1), 15869600 (1), 17241369 (1), 19046415 (1) (see all 12)

    GeneTests: MYH9
    GeneReviews: MYH9
    Genetic Association Database (GAD): MYH9
    Human Genome Epidemiology (HuGE) Navigator: MYH9 (21 documents)

    Export disorders for MYH9 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 MYH9 gene, integrated from 10 sources (see all 342):
    (articles sorted by number of sources associating them with MYH9)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Polymorphisms in the non-muscle myosin heavy chain 9 gene (MYH9) are strongly associated with end-stage renal disease historically attributed to hypertension in African Americans. (PubMed id 19177153)1, 2, 4, 9 Freedman B.I....Bowden D.W. (Kidney Int. 2009)
    2. Human nonsyndromic hereditary deafness DFNA17 is due to a mutation in nonmuscle myosin MYH9. (PubMed id 11023810)1, 2, 3, 9 Lalwani A.K....Mhatre A.N. (Am. J. Hum. Genet. 2000)
    3. MYH9 is a major-effect risk gene for focal segmental glomerulosclerosis. (PubMed id 18794856)1, 2, 4, 9 Kopp J.B.... Winkler C.A. (Nat. Genet. 2008)
    4. Human nonmuscle myosin heavy chains are encoded by two genes located on different chromosomes. (PubMed id 1860190)1, 2, 3, 9 Simons M.... Weir L. (Circ. Res. 1991)
    5. Immunofluorescence analysis of neutrophil nonmuscle myosin heavy chain-A in MYH9 disorders: association of subcellular localization with MYH9 mutations. (PubMed id 12533692)1, 2, 9 Kunishima S.... Saito H. (Lab. Invest. 2003)
    6. Expression of the nonmuscle myosin heavy chain IIA in the human kidney and screening for MYH9 mutations in Epstein and Fechtner syndromes. (PubMed id 11752022)1, 2, 9 Arrondel C.... Heidet L. (J. Am. Soc. Nephrol. 2002)
    7. Nonmuscle myosin heavy chain IIA mutations define a spectrum of autosomal dominant macrothrombocytopenias: May-Hegglin anomaly and Fechtner, Sebastian, Epstein, and Alport-like syndromes. (PubMed id 11590545)1, 2, 9 Heath K.E....Martignetti J.A. (Am. J. Hum. Genet. 2001)
    8. Position of nonmuscle myosin heavy chain IIA (NMMHC-IIA) mutations predicts the natural history of MYH9-related disease. (PubMed id 18059020)1, 2, 9 Pecci A.... Savoia A. (Hum. Mutat. 2008)
    9. Macrothrombocytopenia and progressive deafness is due to a mutation in MYH9. (PubMed id 12621333)1, 2, 9 Mhatre A.N.... Lalwani A.K. (Otol. Neurotol. 2003)
    10. The association of the MYH9 gene and kidney outcomes in American Indians: the Strong Heart Family Study. (PubMed id 19921264)1, 4, 9 Franceschini N....Cole S.A. (Hum. Genet. 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: 4627 HGNC: 7579 AceView: MYH9 Ensembl:ENSG00000100345 euGenes: HUgn4627
    ECgene: MYH9 Kegg: 4627 H-InvDB: MYH9

    (According to HUGE)
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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)
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    NameDescription
    PharmGKB entry for MYH9 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for MYH9 Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=MYH9[genesymbol]

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    Patent Information for MYH9 gene:
    Search GeneIP for patents involving MYH9

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



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    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014 , 7 Oct 2014

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