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    MYH9 myosin, heavy chain 9, non-muscle [ Homo sapiens (human) ]

    Gene ID: 4627, updated on 5-Jul-2015
    Official Symbol
    MYH9provided by HGNC
    Official Full Name
    myosin, heavy chain 9, non-muscleprovided by HGNC
    Primary source
    HGNC:HGNC:7579
    See related
    Ensembl:ENSG00000100345; HPRD:01177; MIM:160775; Vega:OTTHUMG00000030429
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MHA; FTNS; EPSTS; BDPLT6; DFNA17; NMMHCA; NMHC-II-A; NMMHC-IIA
    Summary
    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]
    Orthologs
    See MYH9 in Epigenomics, MapViewer
    Location:
    22q13.1
    Exon count:
    43
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) 22 NC_000022.11 (36281277..36388067, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (36677323..36784107, complement)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene apolipoprotein L, 2 Neighboring gene apolipoprotein L, 1 Neighboring gene microRNA 6819 Neighboring gene uncharacterized LOC105377199 Neighboring gene ribosomal protein S15a pseudogene 38

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Deafness, autosomal dominant nonsyndromic sensorineural 17 Compare labs
    Epstein syndrome
    MedGen: C0398641 OMIM: 153650 GeneReviews: MYH9-Related Disorders
    Compare labs
    Fechtner syndrome
    MedGen: C0403445 OMIM: 153640 GeneReviews: MYH9-Related Disorders
    Compare labs
    Macrothrombocytopenia and progressive sensorineural deafness
    MedGen: C1834478 OMIM: 600208 GeneReviews: Not available
    Compare labs
    May-Hegglin anomaly
    MedGen: C0340978 OMIM: 155100 GeneReviews: MYH9-Related Disorders
    Compare labs
    MYH9 related disorders
    MedGen: CN073381 GeneReviews: MYH9-Related Disorders
    Compare labs
    Sebastian syndrome
    MedGen: C1854520 OMIM: 605249 GeneReviews: MYH9-Related Disorders
    Compare labs

    NHGRI GWAS Catalog

    Description
    A risk allele for focal segmental glomerulosclerosis in African Americans is located within a region containing APOL1 and MYH9.
    NHGRI GWA Catalog
    Candidate genes for non-diabetic ESRD in African Americans: a genome-wide association study using pooled DNA.
    NHGRI GWA Catalog
    Genome-wide association identifies ATOH7 as a major gene determining human optic disc size.
    NHGRI GWA Catalog

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env HIV-1 gp120 upregulates the expression of myosin, heavy chain 9, non-muscle (MYH9) in human B cells PubMed
    Nef nef MYH9 is downregulated by HIV-1 infection, which indicates that MYH9 downregulation is likely part of the Nef-mediated signaling cascade that includes RhoA downregulation PubMed
    Pr55(Gag) gag Interaction of HIV-1 Gag with myosin, heavy chain 9, non-muscle (MYH9) is identified in a series of six affinity purification/mass spectrometry screens PubMed
    Tat tat Myosin, heavy chain 9, non-muscle (MYH9, NMHC-IIA) is identified to interact with HIV-1 Tat mutant Nullbasic in HeLa cells by LC MS/MS PubMed
    tat The centripetal and lateral movements of the HIV-1 Tat protein transduction domain are linked to the integrity of myosin II-based actin contraction in HeLa cells PubMed
    tat Expression of HIV-1 Tat upregulates the abundance of myosin, heavy chain 9, non-muscle (MYH9) in the nucleoli of Jurkat T-cells PubMed
    Vpr vpr A stable-isotope labeling by amino acids in cell culture coupled with mass spectrometry-based proteomics identifies upregulation of myosin, heavy chain 9 (MYH9, non-muscle) expression by HIV-1 Vpr in Vpr transduced macrophages PubMed
    retropepsin gag-pol HIV-1 protease cleaves human myosin heavy chain in vitro PubMed

    Go to the HIV-1, Human Interaction Database

    • Axon guidance, organism-specific biosystem (from REACTOME)
      Axon guidance, organism-specific biosystemAxon guidance / axon pathfinding is the process by which neurons send out axons to reach the correct targets. Growing axons have a highly motile structure at the growing tip called the growth cone, w...
    • Developmental Biology, organism-specific biosystem (from REACTOME)
      Developmental Biology, organism-specific biosystemAs a first step towards capturing the array of processes by which a fertilized egg gives rise to the diverse tissues of the body, examples of three kinds of processes have been annotated. These are a...
    • EPH-Ephrin signaling, organism-specific biosystem (from REACTOME)
      EPH-Ephrin signaling, organism-specific biosystemDuring the development process cell migration and adhesion are the main forces involved in morphing the cells into critical anatomical structures. The ability of a cell to migrate to its correct dest...
    • EPHA-mediated growth cone collapse, organism-specific biosystem (from REACTOME)
      EPHA-mediated growth cone collapse, organism-specific biosystemEPH/Ephrin signaling is coupled to Rho family GTPases such as Rac, Rho and Cdc42 that connect bidirectional receptor-ligand interactions to changes in the actin cytoskeleton (Noren & Pasquale 2004, G...
    • Fcgamma receptor (FCGR) dependent phagocytosis, organism-specific biosystem (from REACTOME)
      Fcgamma receptor (FCGR) dependent phagocytosis, organism-specific biosystemPhagocytosis is one of the important innate immune responses that function to eliminate invading infectious agents. Monocytes, macrophages, and neutrophils are the professional phagocytic cells. Phag...
    • Immune System, organism-specific biosystem (from REACTOME)
      Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
    • Innate Immune System, organism-specific biosystem (from REACTOME)
      Innate Immune System, organism-specific biosystemInnate immunity encompases the nonspecific part of immunity tha are part of an individual's natural biologic makeup
    • RHO GTPase Effectors, organism-specific biosystem (from REACTOME)
      RHO GTPase Effectors, organism-specific biosystemRHO GTPases regulate cell behaviour by activating a number of downstream effectors that regulate cytoskeletal organization, intracellular trafficking and transcription (reviewed by Sahai and Marshall...
    • RHO GTPases Activate ROCKs, organism-specific biosystem (from REACTOME)
      RHO GTPases Activate ROCKs, organism-specific biosystemRHO associated, coiled-coil containing protein kinases ROCK1 and ROCK2 consist of a serine/threonine kinase domain, a coiled-coil region, a RHO-binding domain and a plekstrin homology (PH) domain int...
    • RHO GTPases activate CIT, organism-specific biosystem (from REACTOME)
      RHO GTPases activate CIT, organism-specific biosystemCitron kinase (CIT) or citron RHO-interacting kinase (CRIK) shares similarities with ROCK kinases. Like ROCK, it consists of a serine/threonine kinase domain, a coiled-coil region, a RHO-binding doma...
    • RHO GTPases activate PAKs, organism-specific biosystem (from REACTOME)
      RHO GTPases activate PAKs, organism-specific biosystemThe PAKs (p21-activated kinases) are a family of serine/threonine kinases mainly implicated in cytoskeletal rearrangements. All PAKs share a conserved catalytic domain located at the carboxyl terminu...
    • RHO GTPases activate PKNs, organism-specific biosystem (from REACTOME)
      RHO GTPases activate PKNs, organism-specific biosystemProtein kinases N (PKN), also known as protein kinase C-related kinases (PKR) feature a C-terminal serine/threonine kinase domain and three RHO-binding motifs at the N-terminus. RHO GTPases RHOA, RHO...
    • Regulation of actin cytoskeleton, organism-specific biosystem (from KEGG)
      Regulation of actin cytoskeleton, organism-specific biosystem
      Regulation of actin cytoskeleton
    • Regulation of actin cytoskeleton, conserved biosystem (from KEGG)
      Regulation of actin cytoskeleton, conserved biosystem
      Regulation of actin cytoskeleton
    • Regulation of actin dynamics for phagocytic cup formation, organism-specific biosystem (from REACTOME)
      Regulation of actin dynamics for phagocytic cup formation, organism-specific biosystemThe actin cytoskeleton is fundamental for phagocytosis and members of the Rho family GTPases RAC and CDC42 are involved in actin cytoskeletal regulation leading to pseudopod extension. Active RAC and...
    • Salmonella infection, organism-specific biosystem (from KEGG)
      Salmonella infection, organism-specific biosystemSalmonella infection usually presents as a self-limiting gastroenteritis or the more severe typhoid fever and bacteremia. The common disease-causing Salmonella species in human is a single species, S...
    • Salmonella infection, conserved biosystem (from KEGG)
      Salmonella infection, conserved biosystemSalmonella infection usually presents as a self-limiting gastroenteritis or the more severe typhoid fever and bacteremia. The common disease-causing Salmonella species in human is a single species, S...
    • Sema4D in semaphorin signaling, organism-specific biosystem (from REACTOME)
      Sema4D in semaphorin signaling, organism-specific biosystemSemaphorin 4D (Sema 4D/CD100) is an axon guidance molecule with two disulfide-linked 150-kDa subunits. SEMA4D is structurally defined by a conserved 500-amino acid extracellular domain with 16 cyste...
    • Sema4D induced cell migration and growth-cone collapse, organism-specific biosystem (from REACTOME)
      Sema4D induced cell migration and growth-cone collapse, organism-specific biosystemSema4D-mediated attraction of endothelial cells requires Rho, but not R-Ras, signaling. Sema4D-mediated plexinB1 activation activates Rho and its downstream effector ROCK. ROCK then phosphorylates ML...
    • Semaphorin interactions, organism-specific biosystem (from REACTOME)
      Semaphorin interactions, organism-specific biosystemSemaphorins are a large family of cell surface and secreted guidance molecules divided into eight classes on the basis of their structures. They all have an N-terminal conserved sema domain. Semaphor...
    • Signal Transduction, organism-specific biosystem (from REACTOME)
      Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
    • Signaling by Rho GTPases, organism-specific biosystem (from REACTOME)
      Signaling by Rho GTPases, organism-specific biosystemThe Rho family of small guanine nucleotide binding proteins is one of five generally recognized branches of the Ras superfamily. Like most Ras superfamily members, typical Rho proteins function as bi...
    • Tight junction, organism-specific biosystem (from KEGG)
      Tight junction, organism-specific biosystemEpithelial tight junctions (TJs) are composed of at least three types of transmembrane protein -occludin, claudin and junctional adhesion molecules (JAMs)- and a cytoplasmic 'plaque' consisting of ma...
    • Tight junction, conserved biosystem (from KEGG)
      Tight junction, conserved biosystemEpithelial tight junctions (TJs) are composed of at least three types of transmembrane protein -occludin, claudin and junctional adhesion molecules (JAMs)- and a cytoplasmic 'plaque' consisting of ma...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • MGC104539

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ADP binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    ATP binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    ATPase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    actin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    actin filament binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    contributes_to actin filament binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    actin filament binding NAS
    Non-traceable Author Statement
    more info
    PubMed 
    actin-dependent ATPase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    contributes_to actin-dependent ATPase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    calmodulin binding IEA
    Inferred from Electronic Annotation
    more info
     
    microfilament motor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    motor activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    poly(A) RNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein anchor IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein domain specific binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein homodimerization activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    actin cytoskeleton reorganization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    actin filament-based movement IDA
    Inferred from Direct Assay
    more info
    PubMed 
    actomyosin structure organization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    angiogenesis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    axon guidance TAS
    Traceable Author Statement
    more info
     
    blood vessel endothelial cell migration IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cytokinesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    ephrin receptor signaling pathway TAS
    Traceable Author Statement
    more info
     
    establishment of T cell polarity IEA
    Inferred from Electronic Annotation
    more info
     
    establishment of meiotic spindle localization IEA
    Inferred from Electronic Annotation
    more info
     
    in utero embryonic development IEA
    Inferred from Electronic Annotation
    more info
     
    integrin-mediated signaling pathway NAS
    Non-traceable Author Statement
    more info
    PubMed 
    leukocyte migration NAS
    Non-traceable Author Statement
    more info
    PubMed 
    meiotic spindle organization IEA
    Inferred from Electronic Annotation
    more info
     
    membrane protein ectodomain proteolysis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    monocyte differentiation IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    myoblast fusion IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of actin filament severing IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of actin filament severing ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    phagocytosis, engulfment ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    platelet aggregation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    platelet formation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of protein processing in phagocytic vesicle ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    protein transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of cell shape IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    small GTPase mediated signal transduction TAS
    Traceable Author Statement
    more info
     
    termination of G-protein coupled receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    uropod organization IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    colocalizes_with COP9 signalosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    actin cytoskeleton IDA
    Inferred from Direct Assay
    more info
    PubMed 
    actomyosin IDA
    Inferred from Direct Assay
    more info
    PubMed 
    actomyosin contractile ring IDA
    Inferred from Direct Assay
    more info
    PubMed 
    brush border IEA
    Inferred from Electronic Annotation
    more info
     
    cell leading edge IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cell-cell adherens junction IEA
    Inferred from Electronic Annotation
    more info
     
    cleavage furrow IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol TAS
    Traceable Author Statement
    more info
     
    extracellular exosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    colocalizes_with focal adhesion ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    colocalizes_with immunological synapse IDA
    Inferred from Direct Assay
    more info
    PubMed 
    colocalizes_with integrin complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    myosin II complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    myosin II filament IDA
    Inferred from Direct Assay
    more info
    PubMed 
    neuromuscular junction IEA
    Inferred from Electronic Annotation
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    colocalizes_with plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    ruffle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    spindle IEA
    Inferred from Electronic Annotation
    more info
     
    stress fiber IDA
    Inferred from Direct Assay
    more info
    PubMed 
    uropod IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    myosin-9
    Names
    cellular myosin heavy chain, type A
    non-muscle myosin heavy chain A
    non-muscle myosin heavy chain IIa
    non-muscle myosin heavy polypeptide 9
    nonmuscle myosin heavy chain II-A

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_011884.1 RefSeqGene

      Range
      4952..111741
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_002473.5NP_002464.1  myosin-9

      See identical proteins and their annotated locations for NP_002464.1

      Status: REVIEWED

      Source sequence(s)
      AA420536, AB191263, DC296130, Z82215
      Consensus CDS
      CCDS13927.1
      UniProtKB/TrEMBL
      A0A024R1N1
      UniProtKB/Swiss-Prot
      P35579
      Related
      ENSP00000216181, OTTHUMP00000165902, ENST00000216181, OTTHUMT00000259110
      Conserved Domains (7) summary
      pfam01576
      Location:10661923
      Myosin_tail_1; Myosin tail
      cd01377
      Location:77775
      MYSc_type_II; Myosin motor domain, type II myosins. Myosin II mediates cortical contraction in cell motility, and is the motor in smooth and skeletal muscle. This catalytic (head) domain has ATPase activity and belongs to the larger group of P-loop NTPases. Myosins ...
      pfam02736
      Location:2971
      Myosin_N; Myosin N-terminal SH3-like domain
      pfam15619
      Location:9711149
      Lebercilin; Ciliary protein causing Leber congenital amaurosis disease
      cl00240
      Location:12061263
      RRF; Ribosome recycling factor (RRF). Ribosome recycling factor dissociates the posttermination complex, composed of the ribosome, deacylated tRNA, and mRNA, after termination of translation. Thus ribosomes are "recycled" and ready for another ...
      cl14813
      Location:10551208
      GluZincin; Peptidase Gluzincin family (thermolysin-like proteinases, TLPs) includes peptidases M1, M2, M3, M4, M13, M32 and M36 (fungalysins)
      cl22438
      Location:15231647
      TMF_TATA_bd; TATA element modulatory factor 1 TATA binding

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p2 Primary Assembly

    Genomic

    1. NC_000022.11 Reference GRCh38.p2 Primary Assembly

      Range
      36281277..36388067
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011530197.1XP_011528499.1  

      See identical proteins and their annotated locations for XP_011528499.1

      Conserved Domains (7) summary
      pfam01576
      Location:10661923
      Myosin_tail_1; Myosin tail
      cd01377
      Location:77775
      MYSc_type_II; Myosin motor domain, type II myosins. Myosin II mediates cortical contraction in cell motility, and is the motor in smooth and skeletal muscle. This catalytic (head) domain has ATPase activity and belongs to the larger group of P-loop NTPases. Myosins ...
      pfam02736
      Location:2971
      Myosin_N; Myosin N-terminal SH3-like domain
      pfam15619
      Location:9711149
      Lebercilin; Ciliary protein causing Leber congenital amaurosis disease
      cl00240
      Location:12061263
      RRF; Ribosome recycling factor (RRF). Ribosome recycling factor dissociates the posttermination complex, composed of the ribosome, deacylated tRNA, and mRNA, after termination of translation. Thus ribosomes are "recycled" and ready for another ...
      cl14813
      Location:10551208
      GluZincin; Peptidase Gluzincin family (thermolysin-like proteinases, TLPs) includes peptidases M1, M2, M3, M4, M13, M32 and M36 (fungalysins)
      cl22438
      Location:15231647
      TMF_TATA_bd; TATA element modulatory factor 1 TATA binding

    Alternate CHM1_1.1

    Genomic

    1. NC_018933.2 Alternate CHM1_1.1

      Range
      36636447..36743245
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)