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
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

Genomic context

Location:: 22q12.3

Exon count:: 41

Annotation release	Status	Assembly	Chr	Location
109.20200815	current	GRCh38.p13 (GCF_000001405.39)	22	NC_000022.11 (36281280..36387967, complement)
105	previous assembly	GRCh37.p13 (GCF_000001405.25)	22	NC_000022.10 (36677323..36784107, 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
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?

PTP1B up-regulates EGFR expression by dephosphorylating MYH9 at Y1408 to promote cell migration and invasion in esophageal squamous cell carcinoma.
Title: PTP1B up-regulates EGFR expression by dephosphorylating MYH9 at Y1408 to promote cell migration and invasion in esophageal squamous cell carcinoma.
results suggested that the 3'-UTR shortening of FNDC3B mRNA mediated its overexpression in nasopharyngeal carcinoma and promoted its progression by targeting MYH9
Title: FNDC3B 3'-UTR shortening escapes from microRNA-mediated gene repression and promotes nasopharyngeal carcinoma progression.
Diagnosis and treatment of MYH9-RD in an Australasian cohort with thrombocytopenia have been reported.
Title: Diagnosis and treatment of <i>MYH9-</i>RD in an Australasian cohort with thrombocytopenia.
Association between polymorphism rs2032487 in the non-muscle myosin heavy chain IIA gene (MHY9) and chronic kidney disease secondary to type 2 diabetes mellitus in a population of the Canary Islands
Title: Association between polymorphism rs2032487 in the non-muscle myosin heavy chain IIA gene (MHY9) and chronic kidney disease secondary to type 2 diabetes mellitus in a population of the Canary Islands.
rs4821480 in MYH9 was significantly associated with the risk of non-diabetic end-stage renal disease (OR = 3.86; 95%CI: 1.38-10.82, P value .010)
Title: Non-diabetic end-stage renal disease in Saudis associated with polymorphism of MYH9 gene but not UMOD gene.
myosin crossbridge (CB) kinetics were dramatically slow, characterizing the non-muscle myosin type IIA (NMMIIA) present in myofibroblasts. When MSCs were seeded in solid collagen scaffolds functionalized with Arg-Gly-Asp (RGD), contractility increased and CB kinetics were modified, whereas the unitary NMMIIA-CB force and maximum CB efficiency did not change.
Title: Tripeptide Arg-Gly-Asp (RGD) modifies the molecular mechanical properties of the non-muscle myosin IIA in human bone marrow-derived myofibroblasts seeded in a collagen scaffold.
Non-muscle myosin IIA (NMIIA) provides the mechanical tugging force necessary for cell-cell junction reinforcement and maintenance. Non-muscle myosin IIB (NMIIB) is involved in E-cadherin clustering, maintenance of a branched actin layer connecting E-cadherin complexes and perijunctional actin fibers in the biogenesis and integrity of adherens junctions.
Title: Myosin II isoforms play distinct roles in <i>adherens</i> junction biogenesis.
The c.5521G>A variant of MYH9 gene has co-segregated with the phenotype of May-Hegglin anomaly in this pedigree
Title: [Molecular diagnosis of a family with May-Hegglin anomaly].
results suggest that TFPI-2 suppresses cancer cell proliferation and invasion partly through the regulation of the ERK1/2 signaling and through interactions with myosin-9 and actinin-4.
Title: TFPI-2 suppresses breast cancer cell proliferation and invasion through regulation of ERK signaling and interaction with actinin-4 and myosin-9.
Non-muscle myosin IIA (NMIIA) in reticulocyte remodeling and suggest a mechanism of shear stress-responsive vesicle clearance that is crucial for reticulocyte maturation.
Title: Non-muscle myosin II drives vesicle loss during human reticulocyte maturation.

Submit: New GeneRIF Correction See all GeneRIFs (226)

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
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 MedGen: C1863659 OMIM: 603622 GeneReviews: Hereditary Hearing Loss and Deafness Overview	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 Disorders	Compare labs

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

Homology

Homologs of the MYH9 gene: The MYH9 gene is conserved in chimpanzee, dog, cow, mouse, rat, chicken, zebrafish, S.pombe, M.oryzae, N.crassa, and frog.
Orthologs from Annotation Pipeline: 241 organisms have orthologs with human gene MYH9
Orthologs

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
RNA binding	HDA 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
cadherin binding	HDA more info	PubMed
calmodulin binding	IEA Inferred from Electronic Annotation more info
integrin binding	IDA Inferred from Direct Assay more info	PubMed
microfilament motor activity	IDA Inferred from Direct Assay more info	PubMed
motor activity	NAS Non-traceable Author Statement more info	PubMed
protein binding	IPI Inferred from Physical Interaction more info	PubMed
protein domain specific binding	IPI Inferred from Physical Interaction more info	PubMed
protein homodimerization activity	IDA Inferred from Direct Assay more info	PubMed
protein membrane anchor	IMP Inferred from Mutant Phenotype more info	PubMed

Process	Evidence Code	Pubs
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
blood vessel endothelial cell migration	IMP Inferred from Mutant Phenotype more info	PubMed
cytokinetic process	IMP Inferred from Mutant Phenotype more info	PubMed
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
lysosome localization	IMP Inferred from Mutant Phenotype 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
negative regulation of actin filament severing	IMP Inferred from Mutant Phenotype more info	PubMed
negative regulation of actin filament severing	ISS Inferred from Sequence or Structural Similarity more info
phagocytosis, engulfment	ISS Inferred from Sequence or Structural Similarity more info
plasma membrane repair	IDA Inferred from Direct Assay more info	PubMed
platelet aggregation	HMP more info	PubMed
platelet formation	IMP Inferred from Mutant Phenotype more info	PubMed
positive regulation of protein processing in phagocytic vesicle	ISS Inferred from Sequence or Structural Similarity more info
protein transport	IMP Inferred from Mutant Phenotype more info	PubMed
regulated exocytosis	IMP Inferred from Mutant Phenotype more info	PubMed
regulation of cell shape	IMP Inferred from Mutant Phenotype more info	PubMed
regulation of plasma membrane repair	IMP Inferred from Mutant Phenotype more info	PubMed
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
adherens junction	IEA Inferred from Electronic Annotation more info
brush border	IEA Inferred from Electronic Annotation more info
cell leading edge	IDA Inferred from Direct Assay more info	PubMed
cleavage furrow	IDA Inferred from Direct Assay more info	PubMed
cytoplasm	IDA Inferred from Direct Assay more info	PubMed
cytosol	IDA Inferred from Direct Assay more info	PubMed
cytosol	TAS Traceable Author Statement more info
extracellular exosome	HDA more info	PubMed
colocalizes_with focal adhesion	ISS Inferred from Sequence or Structural Similarity more info
colocalizes_with immunological synapse	IDA Inferred from Direct Assay more info	PubMed
membrane	HDA 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-containing 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

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 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

NG_011884.2 RefSeqGene

Range

4952..111742

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_567

mRNA and Protein(s)

NM_002473.6 → NP_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

ENSP00000216181.5, ENST00000216181.10

Conserved Domains (3) summary

pfam01576
Location:841 → 1921

Myosin_tail_1; Myosin tail

pfam02736
Location:29 → 68

Myosin_N; Myosin N-terminal SH3-like domain

cl22853
Location:95 → 764

Motor_domain; Myosin and Kinesin motor domain