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

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: mouse all
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Genomic context

Location:: 22q12.3

Exon count:: 41

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	22	NC_000022.11 (36281280..36387967, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	22	NC_060946.1 (36741430..36848142, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	22	NC_000022.10 (36677326..36784012, complement)

Chromosome 22 - NC_000022.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

A novel role for KIFC1-MYH9 interaction in triple-negative breast cancer aggressiveness and racial disparity.
Title: A novel role for KIFC1-MYH9 interaction in triple-negative breast cancer aggressiveness and racial disparity.
The Aryl Hydrocarbon Receptor Regulates Invasiveness and Motility in Acute Myeloid Leukemia Cells through Expressional Regulation of Non-Muscle Myosin Heavy Chain IIA.
Title: The Aryl Hydrocarbon Receptor Regulates Invasiveness and Motility in Acute Myeloid Leukemia Cells through Expressional Regulation of Non-Muscle Myosin Heavy Chain IIA.
SFN promotes renal fibrosis via binding with MYH9 in chronic kidney disease.
Title: SFN promotes renal fibrosis via binding with MYH9 in chronic kidney disease.
The Potential Impact of MYH9 (rs3752462) and ELMO1 (rs741301) Genetic Variants on the Risk of Nephrotic Syndrome Incidence.
Title: The Potential Impact of MYH9 (rs3752462) and ELMO1 (rs741301) Genetic Variants on the Risk of Nephrotic Syndrome Incidence.
Spindle cell neoplasms with novel LTK fusion - Expanding the spectrum of kinase fusion-positive soft tissue tumors.
Title: Spindle cell neoplasms with novel LTK fusion - Expanding the spectrum of kinase fusion-positive soft tissue tumors.
Aggregates of nonmuscular myosin IIA in erythrocytes associate with GATA1- and GFI1B-related thrombocytopenia.
Title: Aggregates of nonmuscular myosin IIA in erythrocytes associate with GATA1- and GFI1B-related thrombocytopenia.
TMEM120B strengthens breast cancer cell stemness and accelerates chemotherapy resistance via beta1-integrin/FAK-TAZ-mTOR signaling axis by binding to MYH9.
Title: TMEM120B strengthens breast cancer cell stemness and accelerates chemotherapy resistance via β1-integrin/FAK-TAZ-mTOR signaling axis by binding to MYH9.
MYH9: A key protein involved in tumor progression and virus-related diseases.
Title: MYH9: A key protein involved in tumor progression and virus-related diseases.
Effects of specific disease mutations in non-muscle myosin 2A on its structure and function.
Title: Effects of specific disease mutations in non-muscle myosin 2A on its structure and function.
A brain specific alternatively spliced isoform of nonmuscle myosin IIA lacks its mechanoenzymatic activities.
Title: A brain specific alternatively spliced isoform of nonmuscle myosin IIA lacks its mechanoenzymatic activities.

Submit: New GeneRIF Correction See all GeneRIFs (277)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Autosomal dominant nonsyndromic hearing loss 17 MedGen: C1863659 OMIM: 603622 GeneReviews: Genetic Hearing Loss Overview	not available
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss MedGen: C5200934 OMIM: 155100 GeneReviews: MYH9-Related Disease	not available

Copy number response

Description
Copy number response Triplosensitivity No evidence available (Last evaluated 2024-09-04) ClinGen Genome Curation Page Haploinsufficency Little evidence for dosage pathogenicity (Last evaluated 2024-09-04) ClinGen Genome Curation PagePubMed

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 EBI GWAS CatalogPubMed
Candidate genes for non-diabetic ESRD in African Americans: a genome-wide association study using pooled DNA. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association identifies ATOH7 as a major gene determining human optic disc size. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

MYH9_1587 (e-PCR)
- UniSTS:277519

D22S283 (e-PCR)
- UniSTS:6939

D22S683 (e-PCR)
- UniSTS:2332

D22S445 (e-PCR), detects polymorphism
- UniSTS:57123

RH78680 (e-PCR)
- UniSTS:71974

AL008664 (e-PCR)
- UniSTS:65365

D22S1244 (e-PCR)
- UniSTS:599

D22S693 (e-PCR)
- UniSTS:22368

G42919 (e-PCR)
- UniSTS:94821

RH68678 (e-PCR)
- UniSTS:33645

D22S283 (e-PCR)
- UniSTS:8639

A008Z18 (e-PCR)
- UniSTS:37312

GDB:452635 (e-PCR)
- UniSTS:157401

D22S284 (e-PCR), detects polymorphism
- UniSTS:19937

D22S348 (e-PCR)
- UniSTS:148204

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 more info	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 more info	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 more info	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 more info	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 more info	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

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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)

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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.