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

Gene ID: 4627, updated on 17-Jan-2015
Official Symbol
MYH9provided by HGNC
Official Full Name
myosin, heavy chain 9, non-muscleprovided by HGNC
Primary source
HGNC:HGNC:7579
Locus tag
RP1-68O2.1
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 MapViewer
Location:
22q13.1
Exon count:
41
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 22 NC_000022.11 (36281277..36388018, 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 ribosomal protein S15a pseudogene 38 Neighboring gene uncharacterized LOC101926989 Neighboring gene thioredoxin 2

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
Tat 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
  • 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...
  • 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 homodimerization activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
ATP catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
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
 
platelet aggregation IMP
Inferred from Mutant Phenotype
more info
PubMed 
platelet formation IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of cell shape IMP
Inferred from Mutant Phenotype
more info
PubMed 
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 
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 
cortical cytoskeleton IEA
Inferred from Electronic Annotation
more info
 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
PubMed 
extracellular vesicular exosome IDA
Inferred from Direct Assay
more info
PubMed 
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
myosin-9
non-muscle myosin heavy chain A
non-muscle myosin heavy chain IIa
nonmuscle myosin heavy chain II-A
cellular myosin heavy chain, type A
non-muscle myosin heavy polypeptide 9

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 

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

mRNA and Protein(s)

  1. NM_002473.5NP_002464.1  myosin-9

    See proteins identical to 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)
    cl19113
    Location:15231647
    ApoLp-III_like; Apolipophorin-III and similar insect proteins

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000022.11 

    Range
    36281277..36388018
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018933.2 

    Range
    36636447..36743196
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000154.1 

    Range
    19645404..19752216
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)