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

    Gene ID: 4627, updated on 13-May-2022

    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; AllianceGenome:HGNC:7579
    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See MYH9 in Genome Data Viewer
    Location:
    22q12.3
    Exon count:
    41
    Annotation release Status Assembly Chr Location
    110 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (36281280..36387967, complement)
    110 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (36741430..36848142, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (36677326..36784012, complement)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene apolipoprotein L2 Neighboring gene apolipoprotein L1 Neighboring gene microRNA 6819 Neighboring gene Sharpr-MPRA regulatory region 2056 Neighboring gene MYH9 divergent transcript 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

    EBI GWAS Catalog

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

    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

    Process Evidence Code Pubs
    involved_in actin cytoskeleton reorganization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within actin filament-based movement IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in actin filament-based movement IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in actomyosin structure organization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in angiogenesis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in blood vessel endothelial cell migration IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cortical granule exocytosis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cytokinetic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in establishment of T cell polarity IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in establishment of meiotic spindle localization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in in utero embryonic development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in integrin-mediated signaling pathway NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in leukocyte migration NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in lysosome localization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in meiotic spindle organization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in membrane protein ectodomain proteolysis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in monocyte differentiation IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in myoblast fusion IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of actin filament severing IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of actin filament severing ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in phagocytosis, engulfment ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in plasma membrane repair IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in platelet aggregation HMP PubMed 
    involved_in platelet formation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of protein processing in phagocytic vesicle ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in protein transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulated exocytosis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of cell shape IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of plasma membrane repair IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in uropod organization IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in actin cytoskeleton IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in actomyosin IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in actomyosin contractile ring IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in adherens junction IEA
    Inferred from Electronic Annotation
    more info
     
    located_in brush border IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cell leading edge IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cleavage furrow IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cortical granule ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytoplasmic side of plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in extracellular exosome HDA PubMed 
    colocalizes_with focal adhesion ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in immunological synapse IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in membrane HDA PubMed 
    part_of myosin II complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in myosin II filament IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in neuromuscular junction IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nuclear body IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of protein-containing complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in ruffle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in spindle IEA
    Inferred from Electronic Annotation
    more info
     
    located_in stress fiber IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in 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)

    NEW Try the new Transcript table

    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
      ENSP00000216181.6, ENST00000216181.11
      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 Annotation Release 110 details...Open this link in a new tab

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000022.11 Reference GRCh38.p14 Primary Assembly

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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060946.1 Alternate T2T-CHM13v2.0

      Range
      36741430..36848142 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)