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

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)
Microbiology & Infectious Diseases Congress
  See related diseases
at  

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

Aliases
Myosin, Heavy Chain 9, Non-Muscle1 2     MHA2 5
DFNA171 2 5     Myosin, Heavy Polypeptide 9, Non-Muscle1
Nonmuscle Myosin Heavy Chain II-A1 2     BDPLT62
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
FTNS2 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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 sebastian syndrome, and myh9-related disorders, and among its related super-pathways are Immune response CCR3 signaling in eosinophils and Antioxidant Action of Vitamin-C. 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

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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000022.10  NT_011520.12  NC_018933.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for MYH9

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

UniProtKB/Swiss-Prot: 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
Subcellular location: 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 (By
similarity)
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: O60805 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:

  • UniProtKB: ISGylated
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P35579

  • MYH9 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    MYH9 Protein Expression
    REFSEQ proteins: NP_002464.1  
    ENSEMBL proteins: 
     ENSP00000216181   ENSP00000384631   ENSP00000414852  
    Reactome Protein details: P35579
    Human Recombinant Protein Products for MYH9: 
    Browse Purified and Recombinant Proteins at EMD Millipore
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    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 

    Gene Ontology (GO): 5/23 cellular component terms (GO ID links to tree view) (see all 23):    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

    MYH9 for ontologies           About GeneDecksing



    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
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    GenScript Custom Superior Antibodies Services for MYH9
    Novus Biologicals MYH9 Antibodies
    Abcam antibodies for MYH9
    Cloud-Clone Corp. Antibodies for MYH9 
    ThermoFisher Antibody for MYH9
    LSBio Antibodies in human, mouse, rat for MYH9 

    Assay Products for MYH9: 
    Browse Kits and Assays available from EMD Millipore
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    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


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

    5/7 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


    MYH9 for domains           About GeneDecksing


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

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: MYH9_HUMAN, P35579
    Function: Cellular myosin that appears to play a role in cytokinesis, cell shape, and specialized functions such
    as secretion and capping

         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): 5/15 molecular function terms (GO ID links to tree view) (see all 15):    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
         
    MYH9 for ontologies           About GeneDecksing


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

         13 MGI mutant phenotypes (inferred from 15 alleles(MGI details for Myh9):
     cardiovascular system  cellular  embryogenesis  growth/size  hearing/vestibular/ear 
     hematopoietic system  homeostasis/metabolism  immune system  mortality/aging  nervous system 
     normal  renal/urinary system  vision/eye 

    MYH9 for phenotypes           About GeneDecksing

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

       inGenious Targeting Laboratory - Custom generated mouse model solutions for MYH9 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for MYH9

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for MYH9 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for MYH9 

    miRNA
    Products:
        
    miRTarBase miRNAs that target MYH9:
    hsa-mir-124 (MIRT002579)

    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat MYH9
    8/47 QIAGEN miScript miRNA 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:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for MYH9
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat MYH9

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for MYH9
    Sirion Biotech Customized adenovirus for overexpression of MYH9

    Clone
    Products:
         
    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    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

    Cell Line
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    Search LifeMap BioReagents cell lines for MYH9
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MYH9


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for MYH9 About   (see all 19)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Immune response CCR3 signaling in eosinophils
    Immune response CCR3 signaling in eosinophils0.51
    Inhibitory action of Lipoxins on neutrophil migration0.51
    2PAK Pathway
    PAK Pathway0.56
    Epithelial Adherens Junctions0.36
    Antioxidant Action of Vitamin-C0.56
    3Cell adhesion Integrin-mediated cell adhesion and migration
    Cell adhesion Integrin-mediated cell adhesion and migration0.49
    Cell adhesion Tight junctions0.33
    Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases0.49
    4Sema4D in semaphorin signaling
    Sema4D in semaphorin signaling0.89
    Semaphorin interactions0.41
    Sema4D induced cell migration and growth-cone collapse0.89
    5Fcgamma receptor (FCGR) dependent phagocytosis
    Regulation of actin dynamics for phagocytic cup formation0.80
    Fcgamma receptor (FCGR) dependent phagocytosis0.80

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    5 EMD Millipore Pathways for MYH9
        Cell adhesion Integrin-mediated cell adhesion and migration
    Cell adhesion Tight junctions
    Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases
    Immune response CCR3 signaling in eosinophils
    Development MAG-dependent inhibition of neurite outgrowth

    5/11 Downloadable PowerPoint Slides of QIAGEN 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

    5/6 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

    5/9        Reactome Pathways for MYH9 (see all 9)
        Developmental Biology
    Fcgamma receptor (FCGR) dependent phagocytosis
    Semaphorin interactions
    Sema4D induced cell migration and growth-cone collapse
    Regulation of actin dynamics for phagocytic cup formation


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


    MYH9 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for MYH9

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

    5/991 Interacting proteins for MYH9 (P355791, 2, 3 ENSP000002161814) via UniProtKB, MINT, STRING, and/or I2D (see all 991)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    NCLP193381, 2, 3, ENSP000003181954EBI-350338,EBI-346967 MINT-7945693 I2D: score=2 STRING: ENSP00000318195
    ACTBP607092, 3, ENSP000003499604MINT-7945693 MINT-7899812 MINT-7900157 MINT-7947479 I2D: score=4 STRING: ENSP00000349960
    HSP90AB1P082382, 3MINT-7945693 MINT-72662 MINT-7947479 I2D: score=3 
    CALM1P621582, 3MINT-7899812 I2D: score=1 
    CALM2P621582, 3MINT-7899812 I2D: score=1 
    About this table

    Gene Ontology (GO): 5/28 biological process terms (GO ID links to tree view) (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--

    MYH9 for ontologies           About GeneDecksing



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

    MYH9 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    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)

    Search CenterWatch for drugs/clinical trials and news about MYH9

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

    REFSEQ mRNAs for 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
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
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    8/47 QIAGEN miScript miRNA 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*
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    Primer
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat MYH9
      QIAGEN 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 

    24/58 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 

    1191 AceView cDNA sequences (see top 24):

    BQ688338 BU632240 AW192058 BM454409 CA442197 BU625874 AI539529 AW511726 
    BQ707568 BQ641343 AA856897 AW511520 CA430467 BU622803 BE795516 H55296 
    BG325739 AW004952 CF995724 BE311756 BI028048 CN484067 BQ920939 AW583843 
    CK001013 CF454148 BU169233 BX279595 AA070714 BU538565 BQ773542 AI130989 
    BM679196 BQ944910 CA392559 AW768361 BQ232553 AW950092 AA666146 BG699149 
    BQ897174 AI908004 CB148769 BU501143 CF137349 BU501267 BU626369 BG121668 
    BQ310770 BQ876769 BI493791 BQ901018 AW501036 AI699765 BI020066 BM996239 
    BQ009961 BC049849 BP364042 AI859664 BU194005 BP366150 M81105 BQ447005 
    AW166606 AI244463 AI431976 BQ882158 CF132459 BU528520 BF689443 AW576206 
    CR456526 AI919066 BM469206 BQ947257 BU169188 AI582363 BQ058956 BQ936372 
    BU860353 L29141 AI539761 BM476409 BE220516 AI439449 AW236311 BM472152 
    BQ709199 BQ876698 AI669260 CD614947 BE391274 AW192310 BQ301342 BQ890597 
    BQ440052 BQ674719 BX485568 CB216472 AW152567 BQ949657 AI826560 BM763977 
    AK131080 BQ924960 BQ007816 BM471204 BG678160 BF445713 CB530035 AA470782 
    AI024498 BU500273 AI925405 BF847906 CA388984 AW440032 CD369796 BQ672665 
    W23678 CA415838 BQ071227 AA862609 AW167491 AW316817 AW008451 BE466261 
    BQ439839 BG236842 CA429318 BF839762 BG987750 BF806147 AW029244 CK000662 
    BQ068827 AI809282 BC011915 AA658253 AI287313 BG990930 CN481323 BP336105 
    AI925868 BF475577 BM469607 BU838888 BM550064 CN483643 BG476345 BQ433063 
    CA946519 BU527440 BU623186 NM_002473 BQ063361 BU157997 BE909790 BG828256 
    AA402384 AA318640 BE927935 BG176719 BU166899 BU196228 AW780266 BI062064 
    AI478770 BF971683 BE270159 BF847894 BG251566 CN482567 BI031184 BQ922240 
    BG757423 BG398208 AI537058 BG987805 BQ005090 AI285142 BG290735 BE544312 
    AW117834 BG325379 CA435660 BG765623 CK000160 BU168334 AI346948 R60961 
    CD614946 BF816704 BG110373 BI040998 BG034983 BF794712 CD614939 BG744355 
    AA877420 AI806804 AI225161 BG683302 BQ708391 CN483852 CB145596 AW577005 
    BQ939705 AI363951 BG035451 AA680036 BQ709441 AI076254 BE390204 AA041529 
    BF996328 T27874 BQ008708 BG478894 BF902189 BI022186 BP355695 W35111 
    BU627334 BG751252 CB108751 BI038938 AI888584 AI936797 BU557942 BQ347397 
    CD614951 BF872532 BQ014504 BQ308716 BG938519 AW362194 BG385742 BQ961976 
    BF853764 BQ058454 BG107625 BQ045191 AA666144 BF905338 BF973782 BE764575 
    AI239875 BU625808 CN481805 BQ691886 BU630683 N44098 AI537132 BG011080 
    BF734153 BQ960469 BQ772676 AW167011 BQ941787 AL601033 BI027270 BF976367 
    BE740460 BI869871 AW858539 BF379674 BG119376 BU191510 AW081108 CD614943 
    BE908344 AI204036 BU618156 CA445338 BF810271 AW352426 AI281297 BU165949 
    BE677547 CD366269 BG256796 CN484220 BU601866 BG992406 BE712956 BQ005913 
    BG110785 BE932122 BM802935 BF436655 BP364266 BE673482 BU509830 M78027 
    AW069624 BI871692 BQ896816 H84428 AW503956 AI888843 BM543090 AA402632 
    AA380287 BU168101 AL596607 BE019166 BG253593 BF873962 AU133747 AW088016 
    BG825813 AI983389 BE562721 M31013 BP346738 AL832639 BM970229 BF229253 
    BV205826 BF127555 CA448486 BG056055 BU501635 BE879728 BE313589 BF817726 
    CA406852 BP364022 BP364489 BV174842 CA944482 AA687948 AI581646 BG830163 
    BE876541 BI057175 BQ064264 BM463388 BE327952 BG753403 BG117818 CA445258 
    CD614942 BF373071 BQ890473 AW303884 CF785962 BG393170 BQ348607 AA983405 
    M69180 BF870531 BQ692010 BE299113 CA448746 AW007015 BE705868 AI241191 
    BG992405 BQ775804 BI834568 BG874461 BQ017015 BQ053015 AA523209 CA428169 
    BF128351 BG327410 BQ931357 AI686872 BM722709 BQ690080 BP872931 BQ029036 
    CN481478 BQ318541 BM763529 BM048625 BM801791 AW440867 BE388456 BF941155 
    BV196170 AL121003 BG831743 BG752026 BM852115 BQ945735 BF972808 AI124988 
    N34670 CK000517 CA439735 BU179420 BF761208 AK025219 BG248537 BI040368 
    BP358273 R69305 N36094 CF143367 CD614931 CD364757 BM542469 BG119392 
    AA420536 BF847852 BG479952 BG698791 BI871437 BF933043 BG120527 BI044199 
    BG420803 AK025393 BF436593 BU147218 BG337374 BG328333 BQ227296 CF138633 
    CA429156 BG252185 BG744924 AL135586 BQ771879 BF765490 BG758224 BQ315807 
    CK000411 BQ688728 BI028132 BM470655 CK000118 BQ685732 AA570479 BQ710942 
    BI055462 BP336905 BF853754 BU186512 BQ945858 CF619352 D11393 BX641504 
    BQ773184 AI124004 BF854060 BF854597 BG481892 BE712994 BF984218 BF310000 
    AI088420 BG743168 BF734155 AI499149 BE875708 BQ958315 BQ002024 CB149275 
    BQ420906 CD723877 BP355485 AI419943 BQ315808 BG223325 BU628587 BP348197 
    AI708620 BU147296 BQ930684 BP364199 BE875064 BG720685 AI982845 BM914602 
    BE810817 BE878452 BU187952 BU507594 BG759916 AA576376 W44896 BF823638 
    BU528119 BG746353 BQ901218 BM468460 BQ070070 BP353900 AI971953 AI197861 
    BE741250 BM009038 BQ073445 CB148944 BQ946091 BE888904 BE280315 BU500950 
    BE812423 BE940095 AL121451 BG327469 BG824296 AI281296 BG386641 BQ877837 
    BG389080 BF734042 BQ347329 AI130911 AW440074 BF931112 BQ894863 BG992401 
    BG327778 AW375191 BQ890616 BG420724 BF055360 BG762484 BQ007089 CA390243 
    BE742946 BQ712638 AI623886 CD640937 BQ347522 CD614945 AI869830 BQ945523 
    AI076362 BF734138 AI827941 BF761205 BQ348612 AW366068 BF899560 AW362171 
    BF685870 AW600806 BG747170 BG117074 BG951419 BQ347521 BE002784 AW375175 
    AI569176 BF304650 BI031364 BG422440 AA594036 CD614937 BG828766 AI582670 
    BM005864 AW499777 BF851202 BG420141 BF895465 BF851198 AA352158 BI871527 
    BG123013 BI836598 BU431358 BI063694 BG118822 BM048307 BF740423 BF816693 
    AI952788 BQ310812 CD614929 BF851789 BF814061 CD614952 BE940107 AW375165 
    BI871282 BI018434 BE874874 BF667036 AW362168 AW504889 AW502010 BE388213 
    BP355732 AA299717 BX333977 CD614938 BE046145 AW150298 BG938518 BE816409 
    BF514519 BF843570 BX414579 AW500997 BF842548 BG121064 BG763538 AA906229 
    BG120501 BF815094 T69926 BF810639 AA363387 BE349053 BF770925 BE408003 
    AA806169 AW362234 BV196003 BF906521 BG979491 AW078725 BQ331728 AA732476 
    AW732357 BG171394 BQ308575 AI952679 BQ007920 BG984126 BE940105 BQ316508 
    BG950104 CD614949 BX644754 BG756113 CA406322 BG388440 AA557303 BG117632 
    BE709714 BM542477 AW366075 BF688741 BF815791 D45637 BQ360341 AW131209 
    N30600 BM994718 BG490004 BE940098 BE620071 BU191263 AI659179 AI799160 
    BF817963 AW366017 BF992881 CD614928 BE812469 BQ348608 BE395825 CA314548 
    BI087412 BU621295 AW177078 AA434519 BI037168 BF900981 AA366597 BP363314 
    BG979577 BE816405 BG990934 CA428362 AI672216 BM452997 BE927894 CD703749 
    AA937214 BG979578 BF808454 BE712935 AW375168 AI125922 BQ316512 CD614950 
    BE298833 AW591024 BQ705872 BF816151 BQ348079 BF809283 AW375171 AW129022 
    BF734526 AW375200 AW075755 BI200186 BG027177 BG257998 BF869338 H01328 
    AW807358 BF435586 BF761204 BF964483 CD614932 BE844189 BI054535 H44011 
    AA676372 BG910601 BU174207 BQ347413 AI571267 AW190284 BI018404 BE812170 
    CD614948 AA287229 AW189884 CA434454 AA284501 BE392265 AW337626 H21978 
    AI911117 BF873957 AW375176 AW080013 BF873638 AI885372 BF823650 BG104233 
    BM008410 BG036296 BU608690 BV174841 BG987760 AW351986 CD614944 BE816428 
    CF138389 AA976143 AW366067 AI906087 BI028711 BE844177 BF807130 AA889840 
    AW366066 AW352422 BG977852 AI924365 AW366073 W39544 BE841868 BF132101 
    AW375203 BF905585 BE812351 AW375177 BG281888 CD698796 BG118824 AW751814 
    BE076442 BG002111 BF823648 CA393403 BE007978 BF816623 AW365149 BF737555 
    BE391810 BF569251 BF857741 BQ711130 BQ348078 AW815537 BG953113 BX414578 
    AW994571 AW068486 CF121699 BE939811 CA421050 BE764597 AW366033 BQ316495 
    BF816068 AI347853 BF762965 BG755493 BF854651 T82881 BF847955 BG874458 
    BQ355318 AW366035 BF905584 BQ318535 BE698748 BF734046 BF828669 BF374387 
    BI094414 BG479683 AW366070 BF229174 BG035159 BQ315806 AW366062 BF823652 
    AW362209 BQ299878 BF316777 BF816696 C21324 BG223344 AW352423 AA233683 
    BG990660 BF081549 CA314996 BQ950509 AW366072 AW352424 BG014708 BF817980 
    AW366014 BF853229 AI587093 BF903305 BF974632 BI025040 BF900319 BE940104 
    BQ649050 BE002924 BF734156 AA233571 BI053756 BE159594 BF817743 AW362200 
    BM908491 H84427 AW352427 T69983 R69304 AW366031 BE812260 BG992400 
    CD614930 BE720161 CD614940 BM043493 BF881775 BG762716 BF996336 BF154861 
    AW664433 AW366069 BF813329 BF872910 BQ336001 AA551786 BE938713 BP354139 
    BE812444 AI887432 AW516877 CD299553 BF909598 AW375166 AW375205 BF899541 
    BE938711 BE838564 BG684730 BI025035 AW392751 BF803353 BQ348080 BI036355 
    AA505503 CF786057 BG676886 AW375174 AW375157 AW366077 BG122966 BE764585 
    BF740420 BF813258 AW375172 BM802769 BE927852 BF851136 BG993249 BF892959 
    AW376291 BE812186 AA356754 AA039905 BF765226 BE938715 BI039121 BF734258 
    AI064739 AW365152 BE814099 BX389549 BF841764 CF121851 AU185216 BF798387 
    BF349266 BF798437 AW748222 BE818810 BI024510 BE762631 AI906010 BG252720 
    BF081824 AI907225 AA716332 AW362173 BI039838 BQ953282 BQ308014 BE812227 
    AW806643 BF734146 BG391644 T23792 H12952 CD614933 BF819381 AA366081 
    BG117337 R87126 BE812431 BG775918 BQ344985 AA912349 AA622309 BF968848 
    BE812162 BE716482 BI055481 BM914381 AW994572 BE159641 BG338788 AW839727 
    BF332773 AW392726 AW439167 BF154854 AW176073 AJ713447 T57882 BG680128 
    BE542241 BF761207 BF839521 BF933049 BF905332 AW751820 BM016817 BQ332942 
    BE870194 AW192280 AW168196 BF081893 AW005380 BI493792 R87125 N44606 
    BF935335 BF675848 BG979502 BF815291 BF084373 BF912451 BF816692 BE876303 
    BQ940411 BF898191 BE073285 BF349249 BF751826 BF876337 BE278658 AW341858 
    BF806803 AW366016 BF819388 BF801008 AA742806 BI017987 BI023347 AA873764 
    AA352414 BG120225 AW375199 BG387550 BF742921 BI028089 BX389548 AW375064 
    BF822359 BG951971 BE004061 BQ318522 BF904426 BQ335758 BQ956874 AW365155 
    BI001241 BE562396 BE927886 BE940089 BF904792 BF229893 BM849411 BG122147 
    BE774341 CD614934 BF317463 BE844157 BI053466 BE925572 BF815286 AA856971 
    AW375202 AA659767 BE178938 BG741886 BF900251 BG387332 BF800057 BG250400 
    BG993230 BE925590 R35719 BG035824 BG821787 AW581219 AA070528 AW375187 
    BE178942 BQ328150 AW751869 H45734 AW389952 BQ882822 BF816699 BM475782 
    BQ433505 AI910209 BQ316509 BF094758 BM455520 BI085876 BF742934 BM014676 
    BX336220 BF757759 BQ722818 AW375173 AW751854 AW389970 BE004005 AI359203 
    BG319555 BG337834 BF849720 BG015296 BE763221 BE812434 BG996897 BI029528 
    BG119780 BE817145 BI871247 BF733725 BQ362520 BG003341 CD614936 BQ326378 
    AI686345 BE812109 BQ316507 BF819546 H27166 BF851117 BI193300 BE903006 
    BQ316506 BG420941 BI038927 BE819272 AI803834 BF304658 BF798419 BF932483 
    BF081435 BF819413 BQ347396 AW366071 BG621233 BQ316494 BF902769 BE185047 
    R61628 BF081807 T27634 BE816429 BF756528 CB106998 BE925462 BU185963 
    BQ896768 BU536143 BF375175 BF800361 BQ305510 BP334970 BF326390 AW751871 
    BQ669686 BG949897 BG990929 BQ344952 CD614941 BM477978 BP364522 BF905581 
    BG251727 BG994264 AW375207 BE122676 AW375208 BE816399 AA402670 BG954716 
    BQ327445 BG251913 BG621113 BF847875 BF734015 AW375167 BU535491 AA852678 
    BF850095 BM019205 BE894236 BM013236 BF817015 BI012833 AA527129 AW375180 
    BF734292 BE819478 BF081842 BG988822 BE937979 AW370770 BI006957 R34219 
    BI055460 BF326160 BE819577 BE925609 BI055461 BE767273 BI014742 BQ318529 
    AI910066 AW375195 BE178934 BE166621 BF903779 BE242295 BG261242 

    GeneLoc Exon Structure

    5/12 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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    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


    See MYH9 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for MYH9

    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

        SABiosciences Expression via Pathway-Focused PCR Arrays including MYH9: 
              Cell Surface Markers in human mouse rat
              Cell Motility in human mouse rat

    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for MYH9
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat MYH9
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat MYH9
    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MYH9
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MYH9

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

    This gene was present in the common ancestor of animals and fungi.

    Orthologs for MYH9 gene from 8/17 species (see all 17)    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_022410.21  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
    Uncharacterized protein
    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)


    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)
    About This Section
    Paralogs for MYH9 gene
    MYH82  MYH12  MYH22  MYH112  MYH142  MYH102  MYH132  MYH7B2  
    MYH42  MYH32  MYH152  MYH62  MYH72  
    18/40 SIMAP similar genes for MYH9 using alignment to 6 protein entries:     MYH9_HUMAN (see all proteins) (see all similar genes):
    FLJ00279    DKFZp686D10126    MYH11    MYH10    MYH14    MYO1C
    MYO1E    MYO3B    MYO9B    MYO9B variant protein    MYH7    MYO15A
    MYO9A    MYH6    MYO1H    MYH13    MYH2    MYO1G

    MYH9 for paralogs           About GeneDecksing


    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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/2780 SNPs in MYH9 are shown (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) 10/11 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
    SABiosciences Cancer Mutation PCR Assays
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    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, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    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)

  • 20/59 diseases for MYH9 (see all 59):    About MalaCards
    sebastian syndrome    myh9-related disorders    macrothrombocytopenia progressive deafness    deafness, autosomal dominant 17
    macrothrombocytopenia and progressive sensorineural deafness    myh9 related thrombocytopenia    dfna17 nonsyndromic hearing loss and deafness    macrothrombocytopenia
    autosomal dominant alport syndrome    nonsyndromic hearing loss and deafness, autosomal dominant    alport syndrome    bernard-soulier syndrome
    acute graft versus host disease    was-related disorders    graft versus host disease    syphilis
    focal segmental glomerulosclerosis    fasciitis    cleft palate    nephritis

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

    MYH9 for disorders           About GeneDecksing

    10/28 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)
    About This Section

    PubMed articles for MYH9 gene, integrated from 9 sources (see all 328):
    (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. (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. (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. (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. (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. (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. (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. (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. (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. (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. (2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 4627 HGNC: 7579 AceView: MYH9 Ensembl:ENSG00000100345 euGenes: HUgn4627
    ECgene: MYH9 Kegg: 4627 H-InvDB: MYH9

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for MYH9 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for MYH9 Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/MYH9

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