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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 
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    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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    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
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    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
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    Gene Editing
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    Sirion Biotech Customized adenovirus for overexpression of MYH9

    Clone
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    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
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    OriGene ORF clones in mouse, rat for MYH9
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    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

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    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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      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 

    24/1191 AceView cDNA sequences (see all 1191):

    BQ688338 BU632240 AW192058 BM454409 CA442197 BU625874 AI539529 AW511726 
    BQ707568 BQ641343 AA856897 AW511520 CA430467 BU622803 BE795516 H55296 
    BG325739 AW004952 CF995724 BE311756 BI028048 CN484067 BQ920939 AW583843 

    GeneLoc Exon Structure

    12 Alternative Splicing Database (ASD) splice patterns (SP) for MYH9 (see first 5)    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:                                                                                                                                                            
    SP6:                                                                                                                                                            
    SP7:                                                                                                                                                            
    SP8:                                                                                                                                                            
    SP9:                                                                                                                                                            
    SP10:              -           -     -     -     -     -     -     -     -     -     -     -     -     -     -     -     -     -                                 
    SP11:                                                                                                                                                            
    SP12:                                                                                                                                                            

    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:                                                                                                                                                            
    SP6:                                                                                                                                                            
    SP7:                                                                                                                                            -     -     -   
    SP8:                                                                                                                                                            
    SP9:                                                                                                                                                            
    SP10:                                                                                                                                                            
    SP11:                                                                                                                                                            
    SP12:                                            -     -     -     -     -     -     -     -     -     -     -     -     -     -     -     -     -     -     -   

    ExUns: 40a · 40b · 40c ^ 41a · 41b ^ 42a · 42b ^ 43 ^ 44a · 44b ^ 45a · 45b · 45c ^ 46a · 46b
    SP1:  -                                                                                       
    SP2:                                                                                          
    SP3:                                                                                          
    SP4:  -     -     -     -                                                                     
    SP5:  -           -     -     -     -                                                         
    SP6:                                                                                          
    SP7:  -     -     -     -     -     -     -     -     -     -     -     -     -               
    SP8:                                                                                          
    SP9:                                                                                          
    SP10:                                                                                          
    SP11:                                                                                          
    SP12:  -     -     -     -     -     -     -     -     -     -     -                           


    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
    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, 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
    Aliases
    Disorders
    Free Text  

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

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

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    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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     Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
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     Proteins for MYH9
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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