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
110	current	GRCh38.p14 (GCF_000001405.40)	22	NC_000022.11 (36281280..36387967, complement)
110	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_000022.11 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?

Characterization of Sensorineural Hearing Loss in Patients With MYH9-Related Disease: A Systematic Review.
Title: Characterization of Sensorineural Hearing Loss in Patients With MYH9-Related Disease: A Systematic Review.
A functional role of S100A4/non-muscle myosin IIA axis for pro-tumorigenic vascular functions in glioblastoma.
Title: A functional role of S100A4/non-muscle myosin IIA axis for pro-tumorigenic vascular functions in glioblastoma.
HMGA1 stimulates MYH9-dependent ubiquitination of GSK-3beta via PI3K/Akt/c-Jun signaling to promote malignant progression and chemoresistance in gliomas.
Title: HMGA1 stimulates MYH9-dependent ubiquitination of GSK-3β via PI3K/Akt/c-Jun signaling to promote malignant progression and chemoresistance in gliomas.
Novel variant of MYH9 associated with mild evaluation of MYH9 related disorder in a Chinese family.
Title: Novel variant of <i>MYH9</i> associated with mild evaluation of <i>MYH9</i> related disorder in a Chinese family.
Helicobacter urease suppresses cytotoxic CD8+ T-cell responses through activating Myh9-dependent induction of PD-L1.
Title: Helicobacter urease suppresses cytotoxic CD8+ T-cell responses through activating Myh9-dependent induction of PD-L1.
CircMYH9 drives colorectal cancer growth by regulating serine metabolism and redox homeostasis in a p53-dependent manner.
Title: CircMYH9 drives colorectal cancer growth by regulating serine metabolism and redox homeostasis in a p53-dependent manner.
Non-muscle myosin II isoforms orchestrate substrate stiffness sensing to promote cancer cell contractility and migration.
Title: Non-muscle myosin II isoforms orchestrate substrate stiffness sensing to promote cancer cell contractility and migration.
MYH9 disorder: Identification and a novel mutation in patients with macrothrombocytopenia.
Title: MYH9 disorder: Identification and a novel mutation in patients with macrothrombocytopenia.
Activation of the clock gene TIMELESS by H3k27 acetylation promotes colorectal cancer tumorigenesis by binding to Myosin-9.
Title: Activation of the clock gene TIMELESS by H3k27 acetylation promotes colorectal cancer tumorigenesis by binding to Myosin-9.
Long non-coding RNA (LncRNA) MRPL23-AS1 promotes tumor progression and carcinogenesis in osteosarcoma by activating Wnt/beta-catenin signaling via inhibiting microRNA miR-30b and upregulating myosin heavy chain 9 (MYH9).
Title: Long non-coding RNA (LncRNA) MRPL23-AS1 promotes tumor progression and carcinogenesis in osteosarcoma by activating Wnt/β-catenin signaling via inhibiting microRNA miR-30b and upregulating myosin heavy chain 9 (MYH9).

Submit: New GeneRIF Correction See all GeneRIFs (253)

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: Hereditary Hearing Loss and Deafness Overview	Compare labs
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss MedGen: C5200934 OMIM: 155100 GeneReviews: MYH9-Related Disease	Compare labs

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

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: 299 organisms have orthologs with human gene MYH9
Orthologs

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
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
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 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 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
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 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	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 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 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

ENSP00000216181.6, ENST00000216181.11

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