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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)
 Explore 60 diseases affiliated with
MYH9 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for MYH9    

Aliases
for MYH9 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Myosin, Heavy Chain 9, Non-Muscle1 2     Non-Muscle Myosin Heavy Chain A2 3
DFNA171 2 5     Non-Muscle Myosin Heavy Chain IIa2 3
FTNS1 2 5     NMMHC-IIA2 3
MHA1 2 5     Myosin, Heavy Polypeptide 9, Non-Muscle1
EPSTS1 2     BDPLT62
NMHC-II-A1 2     Myosin-91
NMMHCA1 2     Non-Muscle Myosin Heavy Polypeptide 92
Cellular Myosin Heavy Chain, Type A2 3     Nonmuscle Myosin Heavy Chain II-A2
Myosin Heavy Chain 92 3     NMMHC-A3
Myosin Heavy Chain, Non-Muscle IIa2 3     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


Summaries
for MYH9 gene

(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:
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)

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:
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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000022.10  NC_018933.1  NT_011520.12  
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

Proteins
for MYH9 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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

Post-translational modifications:

  • ISGylated1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P35579

    • MYH9 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_002464.1  
    ENSEMBL proteins: 
     ENSP00000216181   ENSP00000384631   ENSP00000414852  
    Reactome Protein details: P35579
    Human Recombinant Protein Products: 
    Browse Purified and Recombinant Proteins at EMD Millipore
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    Novus Biologicals MYH9 Proteins
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    Browse ProSpec Recombinant Proteins
    Uscn 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 IDA15774463
    GO:0001726ruffle IDA16403913
    GO:0001772colocalizes with immunological synapse IDA15064761
    GO:0001931uropod IDA15064761
    GO:0005634nucleus IDA14508515


    MYH9 for ontologies           About GeneDecksing



    MYH9 Antibody Products: 
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    Uscn ELISAs and CLIAs for MYH9

    Protein Domains /
    Families
    for MYH9 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    MYH9 for domains           About GeneDecksing

    5 InterPro domains/families:
     IPR004009 Myosin_N
     IPR000048 IQ_motif_EF-hand-BS
     IPR002928 Myosin_tail
     IPR016137 Regulat_G_prot_signal_superfam
     IPR001609 Myosin_head_motor_dom

    Graphical View of Domain Structure for InterPro Entry P35579

    ProtoNet protein and cluster: P35579

    4 Blocks protein families:
    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


    Function
    for MYH9 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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

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

    miRNA
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    hsa-mir-124 (MIRT002579)

    OriGene 3'-UTR Clone: MYH9
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    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 plasmid: MYH9 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for MYH9 (see all 7)
    OriGene shRNA RFP: MYH9
    OriGene siRNA: MYH9
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat MYH9

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

    Clone
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    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for MYH9 (see all 3)
    OriGene untagged cDNA clones in CMV expression vector in human, 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
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    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

    Gene Ontology (GO): 5/12 molecular function terms (GO ID links to tree view) (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000146microfilament motor activity IDA15845534
    GO:0003774motor activity NAS12421915
    GO:0003779actin binding IDA15065866
    GO:0005515protein binding IPI16403913
    GO:0005516calmodulin binding IEA--


    MYH9 for ontologies           About GeneDecksing


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

    Animal Models:
         Mouse knock-out Myh9tm1Maco for MYH9
         13 MGI mutant phenotypes (inferred from 11 alleles) (MGI details for Myh9):
     cardiovascular system  cellular  embryogenesis  growth/size  hearing/vestibular/ear 
     hematopoietic system  homeostasis/metabolism  immune system  mortality/aging  nervous system 
     no phenotypic analysis  normal  renal/urinary system 

    MYH9 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for MYH9 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/19 super-pathways (see all 19) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Cell adhesion_Integrin-mediated cell adhesion and migration
    		Cell adhesion_Integrin-mediated cell adhesion and migration1.00
    		Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases0.49
    		Cell adhesion Integrin-mediated cell adhesion and migration1.00
    		Cytoskeleton remodeling_Regulation of actin cytoskeleton by Rho GTPases0.49
    2Immune response _CCR3 signaling in eosinophils
    		Immune response _CCR3 signaling in eosinophils1.00
    		Inhibitory action of Lipoxins on neutrophil migration0.51
    		Immune response CCR3 signaling in eosinophils1.00
    3Regulation of actin dynamics for phagocytic cup formation
    		Regulation of actin dynamics for phagocytic cup formation1.00
    		Fcgamma receptor (FCGR) dependent phagocytosis0.80
    		Role of myosins in phagosome formation0.80
    4PAK Pathway
    		PAK Pathway1.00
    		Epithelial Adherens Junctions0.36
    		Antioxidant Action of Vitamin-C0.56
    5Sema4D in semaphorin signaling
    		Sema4D in semaphorin signaling1.00
    		Semaphorin interactions0.44
    		Sema4D induced cell migration and growth-cone collapse0.83

    Pathway sources
    See GeneCards unified pathways
    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

    5/10        Reactome Pathways for MYH9 (see all 10)
        Developmental Biology
    Role of myosins in phagosome formation
    Fcgamma receptor (FCGR) dependent phagocytosis
    Semaphorin interactions
    Sema4D induced cell migration and growth-cone collapse


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

    5/953 Interacting proteins for MYH9 (P355791, 2, 3 ENSP000002161814) via UniProtKB, MINT, STRING, and/or I2D (see all 953)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    NCLP193381, 2, 3, ENSP000003181954EBI-1054343,EBI-352553 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): 26 biological process terms (GO ID links to tree view) (see first 5):    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--
    GO:0001768establishment of T cell polarity IEA--
    GO:0006200ATP catabolic process IDA12237319
    GO:0006509membrane protein ectodomain proteolysis IDA16186248
    GO:0006928cellular component movement ----
    GO:0007132meiotic metaphase I IEA--
    GO:0007155cell adhesion ----
    GO:0007229integrin-mediated signaling pathway NAS10822899
    GO:0007411axon guidance TAS--
    GO:0007520myoblast fusion IEA--
    GO:0008360regulation of cell shape IMP11029059
    GO:0015031protein transport IMP16403913
    GO:0016337cell-cell adhesion IEA--
    GO:0030048actin filament-based movement IDA15845534
    GO:0030220platelet formation IMP12237319
    GO:0030224monocyte differentiation IEP1912569
    GO:0031532actin cytoskeleton reorganization IMP15869600
    GO:0032796uropod organization IEA--
    GO:0038032termination of G-protein coupled receptor signaling pathway IEA--
    GO:0043534blood vessel endothelial cell migration IMP16403913
    GO:0050900leukocyte migration NAS12421915
    GO:0051295establishment of meiotic spindle localization IEA--


    MYH9 for ontologies           About GeneDecksing



    Drugs & Compounds
    for MYH9 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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 #
    (R)-(+)-BlebbistatinSelective inhibitor of myosin II. Inactive enantiomer of (±)-blebbistatin (Cat. No. 1760)--
    (S)-(-)-BlebbistatinSelective inhibitor of myosin II. Active enantiomer of (±)-blebbistatin (Cat. No. 1760)[856925-71-8]
    (±)-BlebbistatinSelective inhibitor of myosin II[674289-55-5]
    4 Novoseek 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 

    Transcripts
    for MYH9 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    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, 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
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000216181(uc003apg.3 uc003aph.1) ENST00000475726 ENST00000486218
    ENST00000459960 ENST00000495928 ENST00000473022 ENST00000477189 ENST00000472210
    ENST00000463027 ENST00000463293 ENST00000401701(uc003api.1) ENST00000456729


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    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 plasmid: MYH9 3' UTR sequence
    Inhib. RNA
    Products:             		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for MYH9 (see all 7)
    OriGene shRNA RFP: MYH9
    OriGene siRNA: MYH9
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat MYH9
    Clone
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    GenScript: all cDNA clones in your preferred vector: MYH9 (NM_002473)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MYH9 
    Primer
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MYH9

    Additional cDNA 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.100659641  DT.120655676  DT.91811745  DT.102840742  DT.95347683  DT.97867641  DT.120655554 

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

    BQ433063 AI287313 BQ058956 H55296 BU622803 BU169188 BE311756 BU626369 
    CA388984 AA856897 BF689443 BE795516 AW008451 CF995724 CK000662 AA666146 
    BU500273 AI925868 BU501267 BU632240 BQ947257 AI859664 BQ876769 BI020066 

    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

    Expression
    for MYH9 gene

    (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
    CGAP TAG: TGCTAAAAAA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    MYH9 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    2 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    Skeletal MuscleHyoid Arch MusclesMyoblastsSkeletal Muscle
    Skeletal MuscleMandibular Arch MusclesMyoblastsSkeletal Muscle
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    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

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    In Situ
    Assay Products:     
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    Orthologs
    for MYH9 gene

    (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.

    Orthologs for MYH9 gene from 6/22 species (see all 22)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    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
    		 --
    		 92(a)
    		 1 ↔ 1
    		 5(22051567-22103593)
    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)   --


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

    Paralogs
    for MYH9 gene

    (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  MYH132  MYH102  MYH7B2  
    MYH42  MYH32  MYH152  MYH62  MYH72  
    18/39 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 variant protein    MYH7    MYO15A    MYO9A
    MYH6    MYO1H    MYH13    MYH2    MYO1G    MYH7B

    MYH9 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for MYH9
    PGOHUM00000263186


    Genomic Variants
    for MYH9 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/2156 NCBI SNPs in MYH9 are shown (see all 2156)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 22 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs169966521,2
    		Cnon-pathogenic36696249(+) TGGTCA/TCCTTC 2 E V mis1 spl34Minor allele frequency- T:0.01NA 144
    rs803388351,2
    		Cpathogenic36678800(-) CCCGCC/TGAATG 2 R * stg10--------
    rs803388341,2
    		Cpathogenic36680520(-) GGACCA/GAGAAG 2 K E mis10--------
    rs803388311,2
    		Cpathogenic36688106(-) TGGACA/C/G/T 
                ACCTG     		4 N H D Y mis10--------
    rs803388291,2
    		Cpathogenic36691115(-) CAAAAC/TGTGAG 2 R C mis10--------
    rs803388281,2
    		Cpathogenic36702021(-) CTGCCA/GCCAGG 2 H R mis10--------
    rs803388271,2
    		Cpathogenic36702030(-) CATCCA/GTATCT 2 H R mis10--------
    rs803388261,2
    		Cpathogenic36702031(-) GCATCC/TGTATC 2 R C mis10--------
    rs1419046821,2
    		C,other36689833(+) CCAGCA/GCGGAG 2 A V mis10--------
    rs1921918811,2
    		--36676888(+) CAATCG/TTAGCT 1 -- ds50010--------

    HapMap Linkage Disequilibrium report for MYH9 (36677323 - 36784063 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for MYH9
         1 CNV: 5183
    Human Gene Mutation Database (HGMD): MYH9

    Locus Specific Mutation Databases (LSDB): MYH9

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing MYH9
    DNA2.0 Custom Variant and Variant Library Synthesis for MYH9

    Disorders / Diseases
    for MYH9 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    MYH9 for disorders           About GeneDecksing

    OMIM gene information: 160775   
    OMIM disorders: 155100  153640  605249  603622  153650  600208  
    UniProtKB/Swiss-Prot: MYH9_HUMAN, P35579
  • Defects in MYH9 are the cause of May-Hegglin anomaly (MHA) [MIM:155100]. MHA is an autosomal dominant
    • macrothrombocytopenia characterized by thrombocytopenia, giant platelets and leukokyte inclusions appearing as highly
    parallel paracrystalline bodies
  • Defects in MYH9 are the cause of Sebastian syndrome (SBS) [MIM:605249]. SBS is an autosomal dominant
    • macrothrombocytopenia characterized by thrombocytopenia, giant platelets and leukocyte inclusions that are smaller and
    less organized than in May-Hegglin anomaly
  • Defects in MYH9 are the cause of Fechtner syndrome (FTNS) [MIM:153640]. FTNS is an 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
  • Defects in MYH9 are the cause of Alport syndrome with macrothrombocytopenia (APSM) [MIM:153650]. APSM is an
    • autosomal dominant disorder characterized by the association of ocular lesions, sensorineural hearing loss and
    nephritis (Alport syndrome) with platelet defects
  • Defects in MYH9 are the cause of Epstein syndrome (EPS) [MIM:153650]. EPS is an autosomal dominant disorder
    • characterized by the association of macrothrombocytopathy, sensorineural hearing loss and nephritis
  • Defects in MYH9 are the cause of deafness autosomal dominant type 17 (DFNA17) [MIM:603622]. DFNA17 is a form
    • of sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear,
    the nerve pathways to the brain, or the area of the brain that receives sound information. DFNA17 is characterized by
    progressive hearing impairment and cochleosaccular degeneration
  • Defects in MYH9 are the cause of macrothrombocytopenia with progressive sensorineural deafness (MPSD)
    • [MIM:600208]. MPSD is an autosomal dominant disorder characterized by the association of macrothrombocytopathy and
    progressive sensorineural hearing loss without renal dysfunction
  • 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)

    • 20/60 diseases for MYH9 (see all 60):    About MalaCards
    macrothrombocytopenia and progressive sensorineural deafness    may-hegglin anomaly    sebastian syndrome    macrothrombocytopenia
    fechtner syndrome    alport syndrome    epstein syndrome    bernard-soulier syndrome
    deafness, autosomal dominant 17    graft versus host disease    acute graft versus host disease    autosomal dominant alport syndrome
    macrothrombocytopenia progressive deafness    cleft lip/palate    focal segmental glomerulosclerosis    hearing loss
    sensorineural hearing loss    anaplastic large cell lymphoma    cleft lip    cleft palate

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

    10/28 Novoseek 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
    MYH9-Related Disorders

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

    Export disorders for MYH9 gene to outside databases

    Publications
    for MYH9 gene

    (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 301):
    (articles sorted by number of sources associating them with MYH9)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. 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)
    2. 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)
    3. 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)
    4. 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)
    5. 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)
    6. 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)
    7. Macrothrombocytopenia and progressive deafness is due to a mutation in MYH9. (PubMed id 12621333)1, 2, 9 Mhatre A.N.... Lalwani A.K. (2003)
    8. 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, 9 Freedman B.I....Bowden D.W. (2009)
    9. Epstein syndrome: another renal disorder with mutations in the nonmuscle myosin heavy chain 9 gene. (PubMed id 11935325)1, 2, 9 Seri M.... Savoia A. (2002)
    10. Identification of six novel MYH9 mutations and genotype-phenotype relationships in autosomal dominant macrothrombocytopenia with leukocyte inclusions. (PubMed id 11776386)1, 2, 9 Kunishima S....Saito H. (2001)

    External Searches for MYH9 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
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    		PubMed
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    Genome Databases showing MYH9 gene

    (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

    Other Databases showing MYH9 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing MYH9 gene

    (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

    Intellectual Property
    for MYH9 gene

    (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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    GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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    VWF
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    von Willebrand factor
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