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    MYH9 myosin heavy chain 9 [ Homo sapiens (human) ]

    Gene ID: 4627, updated on 6-Sep-2020

    Summary

    Official Symbol
    MYH9provided by HGNC
    Official Full Name
    myosin heavy chain 9provided by HGNC
    Primary source
    HGNC:HGNC:7579
    See related
    Ensembl:ENSG00000100345 MIM:160775
    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; MATINS; 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]
    Expression
    Ubiquitous expression in spleen (RPKM 146.6), lung (RPKM 134.4) and 25 other tissues See more
    Orthologs

    Genomic context

    See MYH9 in Genome Data Viewer
    Location:
    22q12.3
    Exon count:
    41
    Annotation release Status Assembly Chr Location
    109.20200815 current GRCh38.p13 (GCF_000001405.39) 22 NC_000022.11 (36281280..36387967, 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 L2 Neighboring gene uncharacterized LOC112268296 Neighboring gene apolipoprotein L1 Neighboring gene microRNA 6819 Neighboring gene Sharpr-MPRA regulatory region 2056 Neighboring gene uncharacterized LOC105377199 Neighboring gene ribosomal protein S15a pseudogene 38

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    A risk allele for focal segmental glomerulosclerosis in African Americans is located within a region containing APOL1 and MYH9.
    GeneReviews: Not available
    Autosomal dominant nonsyndromic deafness 17 Compare labs
    Candidate genes for non-diabetic ESRD in African Americans: a genome-wide association study using pooled DNA.
    GeneReviews: Not available
    Genome-wide association identifies ATOH7 as a major gene determining human optic disc size.
    GeneReviews: Not available
    Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
    MedGen: C0340978 OMIM: 155100 GeneReviews: MYH9-Related Disorders
    Compare labs

    HIV-1 interactions

    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    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 
    RNA binding HDA 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 
    cadherin binding HDA PubMed 
    calmodulin binding IEA
    Inferred from Electronic Annotation
    more info
     
    integrin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    microfilament motor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    motor activity NAS
    Non-traceable Author Statement
    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 
    protein membrane anchor IMP
    Inferred from Mutant Phenotype
    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 
    blood vessel endothelial cell migration IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cytokinetic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    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 
    lysosome localization IMP
    Inferred from Mutant Phenotype
    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
     
    plasma membrane repair IDA
    Inferred from Direct Assay
    more info
    PubMed 
    platelet aggregation HMP 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 
    regulated exocytosis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of cell shape IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of plasma membrane repair IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    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 
    adherens junction IEA
    Inferred from Electronic Annotation
    more info
     
    brush border IEA
    Inferred from Electronic Annotation
    more info
     
    cell leading edge IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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 HDA 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 
    membrane HDA 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-containing 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 

    General protein information

    Preferred Names
    myosin-9
    Names
    cellular myosin heavy chain, type A
    myosin, heavy chain 9, non-muscle
    non-muscle myosin heavy chain 9
    non-muscle myosin heavy chain A
    non-muscle myosin heavy chain IIa
    non-muscle myosin heavy polypeptide 9
    nonmuscle myosin heavy chain II-A

    NCBI Reference Sequences (RefSeq)

    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_011884.2 RefSeqGene

      Range
      4952..111742
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_567

    mRNA and Protein(s)

    1. NM_002473.6NP_002464.1  myosin-9

      See identical proteins and their annotated locations for NP_002464.1

      Status: REVIEWED

      Source sequence(s)
      AA420536, AB191263, Z82215
      Consensus CDS
      CCDS13927.1
      UniProtKB/Swiss-Prot
      P35579
      UniProtKB/TrEMBL
      A0A024R1N1
      Related
      ENSP00000216181.5, ENST00000216181.10
      Conserved Domains (3) summary
      pfam01576
      Location:8411921
      Myosin_tail_1; Myosin tail
      pfam02736
      Location:2968
      Myosin_N; Myosin N-terminal SH3-like domain
      cl22853
      Location:95764
      Motor_domain; Myosin and Kinesin motor domain

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000022.11 Reference GRCh38.p13 Primary Assembly

      Range
      36281280..36387967 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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