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

Gene ID: 4627, updated on 3-Dec-2023

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
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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
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (36281280..36387967, complement)
RS_2023_10 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 H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:36623209-36623887 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:36634500-36635014 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18918 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18919 Neighboring gene apolipoprotein L2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18920 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:36651041-36651540 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:36654247-36655038 Neighboring gene apolipoprotein L1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:36682442-36682954 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr22:36696002-36697201 Neighboring gene microRNA 6819 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:36723803-36724432 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:36724433-36725062 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18921 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr22:36727082-36728281 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13663 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13664 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:36734293-36734793 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:36738402-36738920 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:36738921-36739438 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:36739775-36740434 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:36749021-36749750 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:36750200-36750700 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:36750701-36751201 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:36753095-36754036 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18925 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18926 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:36758744-36759684 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18927 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18928 Neighboring gene Sharpr-MPRA regulatory region 8689 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18929 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18930 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18931 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:36781171-36781884 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:36781885-36782598 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13665 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13666 Neighboring gene Sharpr-MPRA regulatory region 2056 Neighboring gene MYH9 divergent transcript Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:36805192-36805812 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:36809052-36809552 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13668 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

Clone Names

  • MGC104539

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ADP binding IDA
Inferred from Direct Assay
more info
PubMed 
enables ATP binding IDA
Inferred from Direct Assay
more info
PubMed 
enables RNA binding HDA PubMed 
enables actin binding IDA
Inferred from Direct Assay
more info
PubMed 
enables actin filament binding IBA
Inferred from Biological aspect of Ancestor
more info
 
contributes_to actin filament binding IDA
Inferred from Direct Assay
more info
PubMed 
enables actin filament binding IDA
Inferred from Direct Assay
more info
PubMed 
enables actin filament binding NAS
Non-traceable Author Statement
more info
PubMed 
enables cadherin binding HDA PubMed 
enables calmodulin binding IEA
Inferred from Electronic Annotation
more info
 
enables cytoskeletal motor activity NAS
Non-traceable Author Statement
more info
PubMed 
enables identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables integrin binding IDA
Inferred from Direct Assay
more info
PubMed 
enables microfilament motor activity IBA
Inferred from Biological aspect of Ancestor
more info
 
contributes_to microfilament motor activity IDA
Inferred from Direct Assay
more info
PubMed 
enables microfilament motor activity IDA
Inferred from Direct Assay
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein domain specific binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein homodimerization activity IDA
Inferred from Direct Assay
more info
PubMed 
enables protein-membrane adaptor activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
Process Evidence Code Pubs
involved_in actin cytoskeleton organization 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 endodermal cell differentiation IEA
Inferred from Electronic Annotation
more info
 
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
part_of COP9 signalosome IDA
Inferred from Direct Assay
more info
PubMed 
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
 
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
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 IBA
Inferred from Biological aspect of Ancestor
more info
 
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 
is_active_in myosin filament IBA
Inferred from Biological aspect of Ancestor
more info
 
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 IIA2
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
    A8K6E4, O60805, P35579, Q60FE2, Q86T83
    UniProtKB/TrEMBL
    A0A8I5KWT8
    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: GCF_000001405.40-RS_2023_10

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)