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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 
    MYH9 Protein Expression
    REFSEQ proteins: NP_002464.1  
    ENSEMBL proteins: 
     ENSP00000216181   ENSP00000384631   ENSP00000414852  
    Reactome Protein details: P35579
    Human Recombinant Protein Products for MYH9: 
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    OriGene Custom Protein Services for MYH9 
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    Novus Biologicals MYH9 Proteins
    Browse Sino Biological Recombinant Proteins
    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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    ThermoFisher Antibody for MYH9

    Assay Products for MYH9: 
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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, inGenious Targeting Laboratory,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, 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, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 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): 5/12 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


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

         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

    Animal Models:
         Mouse knock-out Myh9tm1Maco for MYH9
       inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for MYH9 

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

    OriGene 3'-UTR Clone: MYH9
    Browse MicroRNA Expression Plasmids
    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
    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
    Sirion Biotech Custom design and validation of potent shRNA sequences against MYH9 

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

    Clone
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    Cell Line
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    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MYH9


    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): 5/26 biological process terms (GO ID links to tree view) (see all 26):    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



    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, Sirion Biotech, 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


    miRNA
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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*
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    Inhib. RNA
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    OriGene shRNA RFP: MYH9
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    Sirion Biotech Custom design and validation of potent shRNA sequences against 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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    Browse OriGene validated miRNA SYBR primer pairs
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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 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 

    1191 AceView cDNA sequences (see top 24):

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

    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
    MYH9 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

    Primer
    Products:    		 OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for MYH9
    Browse OriGene validated miRNA SYBR primer pairs
    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
    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
    		Cother36689833(+) 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
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    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
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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:
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