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

Gene ID: 4627, updated on 5-Sep-2021

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
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Genomic context

See MYH9 in Genome Data Viewer
Location:
22q12.3
Exon count:
41
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 22 NC_000022.11 (36281280..36387967, complement)
105.20201022 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 uncharacterized LOC112268296 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

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 Disease
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

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 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)

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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
    cl22853
    Location:95764
    Motor_domain; Myosin and Kinesin motor domain
    pfam01576
    Location:8411921
    Myosin_tail_1; Myosin tail
    pfam02736
    Location:2968
    Myosin_N; Myosin N-terminal SH3-like domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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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