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MYH9 Gene

protein-coding GIFtS: 72
GCID: GC22M036677

Myosin, Heavy Chain 9, Non-Muscle

(Previous names: myosin, heavy polypeptide 9, non-muscle)
(Previous symbol: DFNA17)

See MYH9-related diseases
at

MalaCards

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
About This Section

Aliases
Myosin, Heavy Chain 9, Non-Muscle¹ ²		FTNS² ⁵
DFNA17¹ ² ⁵		MHA² ⁵
Nonmuscle Myosin Heavy Chain II-A¹ ²		Myosin, Heavy Polypeptide 9, Non-Muscle¹
Cellular Myosin Heavy Chain, Type A² ³		EPSTS²
Myosin Heavy Chain 9² ³		NMHC-II-A²
Myosin Heavy Chain, Non-Muscle IIa² ³		NMMHCA²
Non-Muscle Myosin Heavy Chain A² ³		myosin-9²
Non-Muscle Myosin Heavy Chain IIa² ³		Non-Muscle Myosin Heavy Polypeptide 9²
NMMHC-IIA² ³		NMMHC-A³
BDPLT6² ⁵		NMMHC II-A³

External Ids:	HGNC: 7579¹	Entrez Gene: 4627²	Ensembl: ENSG00000100345⁷	OMIM: 160775⁵	UniProtKB: P35579³

Export aliases for MYH9 gene to outside databases

Previous GC identifers: GC22M033322 GC22M034949 GC22M035001 GC22M019645

(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for MYH9 Gene:

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)

GeneCards Summary for MYH9 Gene:

MYH9 (myosin, heavy chain 9, non-muscle) is a protein-coding gene. Diseases associated with MYH9 include macrothrombocytopenia and progressive sensorineural deafness, and myh9-related disorders. GO annotations related to this gene include calmodulin binding and protein homodimerization activity. An important paralog of this gene is MYH8.

UniProtKB/Swiss-Prot: MYH9_HUMAN, P35579

Function: Cellular myosin that appears to play a role in cytokinesis, cell shape, and specialized functions such

as secretion and capping. During cell spreading, plays an important role in cytoskeleton reorganization, focal

contacts formation (in the margins but not the central part of spreading cells), and lamellipodial retraction;

this function is mechanically antagonized by MYH10

summary for MYH9 Gene:

Myosins are a large family of motor proteins that share the common features of ATP hydrolysis, actin binding

and potential for kinetic energy transduction. Originally isolated from muscle cells (hence the name),

almost all eukaryotic cells are now known to contain myosins. Structurally, mysoins contain a head domain

that binds to actin filaments (microfilaments) and is the site of ATP hydrolysis. The tail domain interacts

with cargo molecules, and the neck acts as a linker between the head and tail and is the site of regulatory

myosin light chain binding. There are 17 myosin families and the most well characterized is myosin II.

Myosin II is found predominantly in myocytes and mediates plus-ended movement along microfilaments. It is

involved in muscle contraction through cyclic interactions with actin-rich thin filaments, creating a

contractile force. It is regulated by phosphorylation via myosin light chain kinase (MLCK) and by

intracellular Ca2+ concentrations.

Gene Wiki entry for MYH9 Gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence at NCBI GenBank:

NC_000022.10 NC_018933.2 NT_011520.13

Regulatory elements:

Regulatory transcription factor binding sites in the MYH9 gene promoter:
Max1 USF1 MyoD Tal-1beta E47 c-Ets-1 USF-1 Cart-1 Pax-4a c-Myc
Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 3): MYH9 promoter sequence

Search Chromatin IP Primers for MYH9

Epigenetics:

DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MYH9

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 22q13.1 Ensembl cytogenetic band: 22q12.3 HGNC cytogenetic band: 22q13.1

MYH9 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MYH9 gene location

GeneLoc information about chromosome 22 GeneLoc Exon Structure

GeneLoc location for GC22M036677: view genomic region (about GC identifiers)

Start:	36,677,323 bp from pter	End:	36,784,063 bp from pter
Size:	106,741 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, ²neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, antibodies-online, and/or GeneTex,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
About This Section

UniProtKB/Swiss-Prot: MYH9_HUMAN, P35579 (See protein sequence)

Recommended Name: Myosin-9

Size: 1960 amino acids; 226532 Da

Subunit: Interacts with PDLIM2 (By similarity). Interacts with SLC6A4 (By similarity). Myosin is a hexameric

protein that consists of 2 heavy chain subunits (MHC), 2 alkali light chain subunits (MLC) and 2 regulatory light

chain subunits (MLC-2). Interacts with RASIP1. Interacts with DDR1 (By similarity). Interacts with SVIL and HTRA3

Sequence caution: Sequence=CAD89954.1; Type=Frameshift; Positions=1890;

3 PDB 3D structures from and Proteopedia for MYH9:

2LNK (3D)

3ZWH (3D)

4ETO (3D)

Secondary accessions: A8K6E4 O60805 Q60FE2 Q86T83

Alternative splicing: 2 isoforms: P35579-1 P35579-2

Explore the universe of human proteins at neXtProt for MYH9: NX_P35579

Explore proteomics data for MYH9 at MOPED

Post-translational modifications:

ISGylated¹

Ubiquitination² at Lys8, Lys14, Lys38, Lys102, Lys186, Lys225, Lys261, Lys299, Lys373, Lys403,
Lys637, Lys651, Lys682, Lys760, Lys810, Lys833, Lys835, Lys1234, Lys1392, Lys1445 (see all 21)

Modification sites at PhosphoSitePlus

See MYH9 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_002464.1

ENSEMBL proteins:

ENSP00000216181 ENSP00000384631 ENSP00000414852

Reactome Protein details: P35579

MYH9 Human Recombinant Protein Products:

	Browse Purified and Recombinant Proteins at EMD Millipore
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Browse OriGene full length recombinant human proteins expressed in human HEK293 cells Browse OriGene Protein Over-expression Lysates OriGene Custom MassSpec OriGene Custom Protein Services for MYH9
	GenScript Custom Purified and Recombinant Proteins Services for MYH9
	Novus Biologicals MYH9 Proteins
	Browse Sino Biological Recombinant Proteins Browse Sino Biological Cell Lysates
	Browse ProSpec Recombinant Proteins
	Cloud-Clone Corp. Proteins for MYH9
	Search eBioscience for Proteins for MYH9
	Search GeneTex for Proteins for MYH9
	antibodies-online proteins for MYH9 (12 products)
	antibodies-online peptides for MYH9

MYH9 Antibody Products:

	EMD Millipore Mono- and Polyclonal Antibodies for the study of MYH9
	Browse R&D Systems for Antibodies
	Cell Signaling Technology (CST) Antibodies for MYH9
	Browse OriGene Antibodies OriGene Custom Antibody Services for MYH9
	Novus Biologicals MYH9 Antibodies
	Abcam antibodies for MYH9
	Cloud-Clone Corp. Antibodies for MYH9
	ThermoFisher Antibody for MYH9
	antibodies-online antibodies for MYH9 (74 products)

MYH9 Assay Products:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Assay Services for MYH9
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for MYH9
	Browse Enzo Life Sciences for kits & assays
	Cloud-Clone Corp. ELISAs for MYH9 Cloud-Clone Corp. CLIAs for MYH9
	Search eBioscience for ELISAs for MYH9
	antibodies-online kits for MYH9 (16 products)

(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GenesLikeMe)
About This Section

HGNC Gene Families:

MYHII: Myosins / Myosin superfamily : Class II

Selected InterPro protein domains (see all 7):

IPR027401 Myosin-like_IQ_dom

IPR004009 Myosin_N

IPR027417 P-loop_NTPase

IPR000048 IQ_motif_EF-hand-BS

IPR002928 Myosin_tail

Graphical View of Domain Structure for InterPro Entry P35579

ProtoNet protein and cluster: P35579

4 Blocks protein domains:

IPB000048 IQ calmodulin-binding region

IPB002017 Spectrin repeat

IPB002928 Myosin tail

IPB004009 Myosin N-terminal SH3-like domain

UniProtKB/Swiss-Prot: MYH9_HUMAN, P35579

Domain: The rodlike tail sequence is highly repetitive, showing cycles of a 28-residue repeat pattern composed of

4 heptapeptides, characteristic for alpha-helical coiled coils

Similarity: Contains 1 IQ domain

Similarity: Contains 1 myosin head-like domain

Find genes that share domains with MYH9 About GenesLikeMe

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: MYH9_HUMAN, P35579

Function: Cellular myosin that appears to play a role in cytokinesis, cell shape, and specialized functions such

as secretion and capping. During cell spreading, plays an important role in cytoskeleton reorganization, focal

contacts formation (in the margins but not the central part of spreading cells), and lamellipodial retraction;

this function is mechanically antagonized by MYH10

Genatlas biochemistry entry for MYH9:

myosin,motor contractile protein moving towards the "plus" end of actin track,heavy polypeptide 9,non muscle

Gene Ontology (GO): Selected molecular function terms (see all 16): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000146	microfilament motor activity	IDA	12237319
GO:0000166	nucleotide binding	--	--
GO:0003700	sequence-specific DNA binding transcription factor activity	--	--
GO:0003774	motor activity	NAS	12421915
GO:0003779	actin binding	IDA	15065866

Find genes that share ontologies with MYH9 About GenesLikeMe

Phenotypes:
2 GenomeRNAi human phenotypes for MYH9:

Increased focal adhesion (FA)

Large cells

13 MGI mutant phenotypes (inferred from 16 alleles) (MGI details for Myh9):

cardiovascular system	cellular	embryogenesis	growth/size/body	hearing/vestibular/ear
hematopoietic system	homeostasis/metabolism	immune system	mortality/aging	nervous system
normal	renal/urinary system	vision/eye

Find genes that share phenotypes with MYH9 About GenesLikeMe

Animal Models:
MGI mouse knock-outs for MYH9: Myh9^tm1.2Gac Myh9^tm1Maco

genOway: Develop your customized and physiologically relevant rodent model for MYH9

miRNA Products:		miRTarBase miRNAs that target MYH9: hsa-mir-193b-3p (MIRT041494), hsa-mir-1296-5p (MIRT036109), hsa-mir-324-3p (MIRT042922), hsa-mir-9-5p (MIRT021471), hsa-mir-149-5p (MIRT045466), hsa-mir-484 (MIRT042190), hsa-mir-124-3p (MIRT002579), hsa-mir-877-3p (MIRT037181), hsa-mir-92a-3p (MIRT049384), hsa-mir-331-3p (MIRT043426)

		Block miRNA regulation of human, mouse, rat MYH9 using miScript Target Protectors
		Selected qRT-PCR Assays for microRNAs that regulate MYH9 (see all 47):
		hsa-miR-194* hsa-miR-140-5p hsa-miR-3607-3p hsa-miR-300 hsa-miR-376b hsa-miR-25 hsa-miR-449a hsa-miR-10b*

		SwitchGear 3'UTR luciferase reporter plasmid: MYH9 3' UTR sequence

Inhib. RNA Products:		OriGene RNAi products in human, mouse, rat for MYH9
		Predesigned siRNA for gene silencing in human, mouse, rat MYH9

Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for MYH9

Clone Products:		OriGene clones in human, mouse for MYH9 (see all 5) OriGene ORF clones in mouse, rat for MYH9 OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: MYH9 (NM_002473)
		Browse Sino Biological Human cDNA Clones
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for MYH9
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MYH9
		Addgene plasmids for MYH9

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for MYH9
		Browse ESI BIO Cell Lines and PureStem Progenitors for MYH9

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MYH9

(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
About This Section

Subcellular locations from UniProtKB/Swiss-Prot

MYH9_HUMAN, P35579: Cytoplasm, cytoskeleton (By similarity). Cytoplasm, cell cortex (By similarity).

Note=Colocalizes with actin filaments at lamellipodia margins and at the leading edge of migrating cells

Subcellular locations from COMPARTMENTS:

Compartment	Confidence
cytoskeleton	5
cytosol	5
extracellular	5
nucleus	5
plasma membrane	5
golgi apparatus	1

About this image

Gene Ontology (GO): Selected cellular component terms (see all 25): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001725	stress fiber	IDA	14508515
GO:0001726	ruffle	IDA	16403913
GO:0001772	colocalizes with immunological synapse	IDA	15064761
GO:0001931	uropod	IDA	15064761
GO:0005634	nucleus	IDA	14508515

Find genes that share ontologies with MYH9 About GenesLikeMe

(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GenesLikeMe, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
About This Section

SuperPaths for MYH9 About (see all 16)

See pathways by source

Powered
by

SuperPath

Contained pathways About

Cell adhesion Integrin-mediated cell adhesion and migration

	Cell adhesion Integrin-mediated cell adhesion and migration	0.49			Development MAG-dependent inhibition of neurite outgrowth	0.42
	Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases	0.49			Cell adhesion Tight junctions	0.32

PAK Pathway

	PAK Pathway	0.56			Epithelial Adherens Junctions	0.36
	Antioxidant Action of Vitamin-C	0.56

Semaphorin interactions

	Sema4D in semaphorin signaling	0.90			Semaphorin interactions	0.43
	Sema4D induced cell migration and growth-cone collapse	0.90

Fcgamma receptor (FCGR) dependent phagocytosis

Fcgamma receptor (FCGR) dependent phagocytosis

0.77

Regulation of actin dynamics for phagocytic cup formation

0.77

Actin Nucleation by ARP-WASP Complex

Actin Nucleation by ARP-WASP Complex

0.66

RhoA Pathway

0.35

Find genes that share SuperPaths with MYH9 About GenesLikeMe

Pathways by source See SuperPaths
Show all pathways

Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for MYH9 (see all 11)

	RhoA Pathway
	Antioxidant Action of Vitamin-C
	Transendothelial Migration of Leukocytes
	Actin Nucleation by ARP-WASP Complex
	Epithelial Adherens Junctions

1 Cell Signaling Technology (CST) Pathway for MYH9

Cytoskeletal Signaling

Selected GeneGo (Thomson Reuters) Pathways for MYH9 (see all 6)

	Cell adhesion Integrin-mediated cell adhesion and migration
	Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases
	Inhibitory action of Lipoxins on neutrophil migration
	Immune response CCR3 signaling in eosinophils
	Cell adhesion Tight junctions

2 Reactome Pathways for MYH9

	Sema4D induced cell migration and growth-cone collapse
	Regulation of actin dynamics for phagocytic cup formation

3 Kegg Pathways (Kegg details for MYH9):

	Tight junction
	Regulation of actin cytoskeleton
	Salmonella infection

Pathway & Disease-focused RT² Profiler PCR Arrays including MYH9:

Cell Surface Markers in human mouse rat

Cell Motility in human mouse rat

Interactions:

GeneGlobe Interaction Network for MYH9

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

Selected Interacting proteins for MYH9 (P35579^{1, 2, 3} ENSP00000216181⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 1109)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
NCL	P19338¹^,²^,³, ENSP00000318195⁴	EBI-350338,EBI-346967 MINT-7945693 I2D: score=2 STRING: ENSP00000318195
YWHAZ	P63104²^,³, ENSP00000309503⁴	MINT-7899812 MINT-7900157 I2D: score=2 STRING: ENSP00000309503
COPS5	Q92905²^,³, ENSP00000350512⁴	MINT-7945693 MINT-7947479 I2D: score=1 STRING: ENSP00000350512
LMNA	P02545²^,³	MINT-7945693 MINT-7899812 MINT-7947479 I2D: score=1
YWHAQ	P27348²^,³, ENSP00000238081⁴	MINT-7899812 MINT-7900157 I2D: score=1 STRING: ENSP00000238081

About this table

Gene Ontology (GO): Selected biological process terms (see all 28): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000212	meiotic spindle organization	IEA	--
GO:0000904	cell morphogenesis involved in differentiation	--	--
GO:0000910	cytokinesis	IMP	15774463
GO:0001525	angiogenesis	IDA	16403913
GO:0001701	in utero embryonic development	IEA	--

Find genes that share ontologies with MYH9 About GenesLikeMe

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, Sets of similar genes according to GenesLikeMe)
About This Section

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse compounds at ApexBio

Compounds for MYH9 available from Tocris Bioscience About this table

Compound	Action	CAS #
BTS	Selective inhibitor of skeletal muscle myosin II ATPase activity	[1576-37-0]
(R)-(+)-Blebbistatin	Selective inhibitor of myosin II ATPase activity. Inactive enantiomer of (+-)-blebbistatin (Cat. No. 1760)	[1177356-70-5]
(S)-(-)-Blebbistatin	Selective inhibitor of myosin II ATPase activity. Active enantiomer of (+-)-blebbistatin (Cat. No. 1760)	[856925-71-8]
(+-)-Blebbistatin	Selective inhibitor of myosin II ATPase activity	[674289-55-5]

4 Novoseek inferred chemical compound relationships for MYH9 gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
phorbol	21.5	1	15496418 (1)
calcium	0	1	18312684 (1)
threonine	0	1	10945986 (1)
tyrosine	0	1	19401332 (1)

Find genes that share compounds with MYH9 About GenesLikeMe

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
About This Section

REFSEQ mRNAs for MYH9 gene:

NM_002473.4

Unigene Cluster for MYH9:

Myosin, heavy chain 9, non-muscle

Hs.474751 [show with all ESTs]

Unigene Representative Sequence: NM_002473

11 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000216181(uc003apg.3 uc003aph.1) ENST00000475726 ENST00000486218

ENST00000459960 ENST00000495928 ENST00000473022 ENST00000477189 ENST00000472210

ENST00000463027 ENST00000401701(uc003api.1) ENST00000456729

miRNA Products:		Block miRNA regulation of human, mouse, rat MYH9 using miScript Target Protectors
		Selected qRT-PCR Assays for microRNAs that regulate MYH9 (see all 47):
		hsa-miR-194* hsa-miR-140-5p hsa-miR-3607-3p hsa-miR-300 hsa-miR-376b hsa-miR-25 hsa-miR-449a hsa-miR-10b*

		SwitchGear 3'UTR luciferase reporter plasmid: MYH9 3' UTR sequence

Inhib. RNA Products:		OriGene RNAi products in human, mouse, rat for MYH9
		Predesigned siRNA for gene silencing in human, mouse, rat MYH9

Clone Products:		OriGene clones in human, mouse for MYH9 (see all 5) OriGene ORF clones in mouse, rat for MYH9 OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: MYH9 (NM_002473)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for MYH9
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MYH9
		Addgene plasmids for MYH9

Primer Products:		OriGene qSTAR qPCR primer pairs in human, mouse for MYH9
		Pre-validated RT² qPCR Primer Assay in human, mouse, rat MYH9
		QuantiTect SYBR Green Assays in human, mouse, rat MYH9
		QuantiFast Probe-based Assays in human, mouse, rat MYH9

Additional mRNA sequence:

AB191263.1 AB290175.1 AK025219.1 AK025393.1 AK131080.1 AK291609.1 AK304840.1 BC011915.2

BC049849.1 BC090921.1 BC111387.1 BC113067.1 BC131741.1 CR456526.1 D11393.1 HQ326701.1

L29141.1 M31013.1 M69180.1 M81105.1

Selected DOTS entries (see all 58):

DT.95126859 DT.119239 DT.92464957 DT.95347813 DT.97761844 DT.100659644 DT.100659636 DT.100659653

DT.91985714 DT.120655569 DT.95347783 DT.120655540 DT.100659655 DT.120655825 DT.120655658 DT.100659642

DT.120655748 DT.120655676 DT.91811745 DT.100659641 DT.102840742 DT.95347683 DT.97867641 DT.120655554

Selected AceView cDNA sequences (see all 1191):

AW511520 CF137349 BE311756 BF806147 BQ433063 BQ440052 H55296 BG990930

AI908004 AK131080 BQ890597 AI431976 BQ672665 BQ232553 AA856897 CA429318

BQ007816 AI582363 W23678 BQ773542 BU538565 BM454409 CF454148 BM472152

GeneLoc Exon Structure

Selected Alternative Splicing Database (ASD) splice patterns (SP) for MYH9 (see all 12) About this scheme

ExUns:	1a	·	1b	^	2	^	3a	·	3b	^	4	^	5	^	6	^	7	^	8	^	9	^	10	^	11	^	12a	·	12b	^	13	^	14	^	15	^	16	^	17	^	18a	·	18b	^	19a	·	19b	^	20	^	21	^
SP1:																	-										-
SP2:					-												-										-
SP3:
SP4:
SP5:

ExUns:	22	^	23	^	24	^	25a	·	25b	^	26a	·	26b	^	27	^	28a	·	28b	^	29	^	30	^	31	^	32	^	33	^	34	^	35a	·	35b	^	36a	·	36b	^	37a	·	37b	^	38a	·	38b	·	38c	^	39	^
SP1:									-		-		-		-		-		-		-		-		-		-		-		-		-
SP2:
SP3:
SP4:																																																	-		-
SP5:

ExUns:	40a	·	40b	·	40c	^	41a	·	41b	^	42a	·	42b	^	43	^	44a	·	44b	^	45a	·	45b	·	45c	^	46a	·	46b
SP1:	-
SP2:
SP3:
SP4:	-		-		-		-
SP5:	-				-		-		-		-

ECgene alternative splicing isoforms for MYH9

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GenesLikeMe, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

MYH9 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: TGCTAAAAAA

About this image

MYH9 expression in embryonic tissues and stem cells About this table

Data from LifeMap, the Embryonic Development and Stem Cells Database
selected tissues (see all 22) fully expand


Ovary (Reproductive System) fully expand to see all 2 entries
Ovarian Mesenchymal Stroma Cells Ovary Interstitium
Oviduct

Trophoblast (Extraembryonic Tissues)
Trophoblast Cells Trophoblast

Brain (Nervous System)
Cerebral Cortex

Bone (Muscoskeletal System)
Bone Marrow

Colon (Gastrointestinal Tract)

MYH9 Protein expression data from MOPED¹, PaxDb² and MaxQB³:

About this image

MYH9 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.474751

UniProtKB/Swiss-Prot: MYH9_HUMAN, P35579

Tissue specificity: In the kidney, expressed in the glomeruli. Also expressed in leukocytes

Pathway & Disease-focused RT² Profiler PCR Arrays including MYH9:

Cell Surface Markers in human mouse rat

Cell Motility in human mouse rat

Primer Products:		OriGene qSTAR qPCR primer pairs in human, mouse for MYH9
		Pre-validated RT² qPCR Primer Assay in human, mouse, rat MYH9
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		QuantiFast Probe-based Assays in human, mouse, rat MYH9

In Situ
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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MYH9

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals and fungi.

Orthologs for MYH9 gene from Selected species (see all 18) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Myh9^{1 , 5}	myosin, heavy polypeptide 9, non-muscle^{1, 5}	90.51(n)¹ 97.09(a)¹		15 (36.81 cM)⁵ 17886¹ NM_022410.3¹ NP_071855.2¹ 77760587⁵
chicken (Gallus gallus)	Aves	MYH9¹	myosin, heavy chain 9, non-muscle	80.91(n) 92.75(a)		396469 NM_205477.1 NP_990808.1
lizard (Anolis carolinensis)	Reptilia	MYH9⁶	myosin, heavy chain 9, non-muscle	92(a)	1 ↔ 1	5(22047775-22130391)
African clawed frog (Xenopus laevis)	Amphibia	AF055895.1²	--	76.39(n)		AF055895.1
zebrafish (Danio rerio)	Actinopterygii	BC045324.1²	--	77.88(n)		393797 BC045324.1
fruit fly (Drosophila melanogaster)	Insecta	zip³	NOT muscle attachment myosin ATPase	61(a)		--
worm (Caenorhabditis elegans)	Secernentea	nmy-1³	myosin	50(a) (best of 6)		X(2944856-2952845) --
baker's yeast (Saccharomyces cerevisiae)	Saccharomycetes	MYO1⁶	Type II myosin heavy chain, required for wild-type...	29(a)	1 → many	VIII(151666-157452) YHR023W

ENSEMBL Gene Tree for MYH9 (if available)
TreeFam Gene Tree for MYH9 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68,Sets of similar genes according to GenesLikeMe)
About This Section

Paralogs for MYH9 gene

MYH8² MYH1² MYH2² MYH11² MYH14² MYH10² MYH13² MYH7B²

MYH4² MYH3² MYH15² MYH6² MYH7²

Selected SIMAP similar genes for MYH9 using alignment to 5 protein entries: MYH9_HUMAN (see all proteins) (see all similar genes):

FLJ00279 DKFZp686D10126 MYH11 MYH10 MYH14 MYO1C

MYO1E MYH7 MYO3B MYO9B MYO9B variant protein MYO15A

MYO9A MYH6 MYH2 MYH13 MYH7B MYO1G

Find genes that share paralogs with MYH9 About GenesLikeMe

1 Pseudogenes.org Pseudogene for MYH9
PGOHUM00000263186

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, ⁴UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
About This Section

SNP ID	Clinical significance	Chr 22 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data				Transcription Related Data				Allele Frequencies
			--	--	--		--	--
VAR_018316⁴	Sebastian syndrome (SBS)⁴	--	see VAR_018316	2	D N	mis⁴		0	--	--	--	--
VAR_018310⁴	Sebastian syndrome (SBS)⁴	--	see VAR_018310	2	K N	mis⁴		0	--	--	--	--
VAR_010794⁴	May-Hegglin anomaly (MHA)⁴	--	see VAR_010794	2	T I	mis⁴		0	--	--	--	--
VAR_010793⁴	Deafness, autosomal dominant, 17 (DFNA17)⁴	--	see VAR_010793	2	R H	mis⁴		0	--	--	--	--
VAR_044226⁴	Fechtner syndrome (FTNS)⁴	--	see VAR_044226	2	K Q	mis⁴		0	--	--	--	--
VAR_018317⁴	May-Hegglin anomaly (MHA)⁴	--	see VAR_018317	2	D Y	mis⁴		0	--	--	--	--
VAR_010796⁴	May-Hegglin anomaly (MHA)⁴	--	see VAR_010796	2	D H	mis⁴		0	--	--	--	--
VAR_036006⁴	A breast cancer sample⁴	--	see VAR_036006	2	K N	mis⁴		0	--	--	--	--
VAR_010797⁴	Sebastian syndrome (SBS)⁴	--	see VAR_010797	2	E K	mis⁴		0	--	--	--	--
VAR_018311⁴	Epstein syndrome (EPS)⁴	--	see VAR_018311	2	R H	mis⁴		0	--	--	--	--

HapMap Linkage Disequilibrium report for MYH9 (36677323 - 36784063 bp)

Structural Variations
Database of Genomic Variants (DGV) Selected variations for MYH9 (see all 11): About this table

Variant ID	Type	Subtype	PubMed ID
esv2724192	CNV	Deletion	23290073
esv2724191	CNV	Deletion	23290073
esv2665599	CNV	Deletion	23128226
esv1147593	CNV	Insertion	17803354
nsv915007	CNV	Loss	21882294
nsv834186	CNV	Loss	17160897
nsv523911	CNV	Loss	19592680
nsv834185	CNV	Loss	17160897
nsv523629	CNV	Loss	19592680
nsv522931	CNV	Gain	19592680

Human Gene Mutation Database (HGMD): MYH9
Locus Specific Mutation Databases (LSDB): MYH9

Site Specific Mutation Identification with PCR Assays

SeqTarget long-range PCR primers for resequencing MYH9

DNA2.0 Custom Variant and Variant Library Synthesis for MYH9

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB, Sets of similar genes according to GenesLikeMe)
About This Section

OMIM gene information: 160775
OMIM disorders: 155100 153640 605249 603622 153650 600208
UniProtKB/Swiss-Prot: MYH9_HUMAN, P35579

May-Hegglin anomaly (MHA) [MIM:155100]: A disorder characterized by thrombocytopenia, giant platelets and

Dohle body-like inclusions in peripheral blood leukocytes. appearing as highly parallel paracrystalline bodies.

Note=The disease is caused by mutations affecting the gene represented in this entry

Sebastian syndrome (SBS) [MIM:605249]: Autosomal dominant macrothrombocytopenia characterized by

thrombocytopenia, giant platelets and leukocyte inclusions that are smaller and less organized than in

May-Hegglin anomaly. Note=The disease is caused by mutations affecting the gene represented in this entry

Fechtner syndrome (FTNS) [MIM:153640]: Autosomal dominant macrothrombocytopenia characterized by

thrombocytopenia, giant platelets and leukocyte inclusions that are small and poorly organized. Additionally,

FTNS is distinguished by Alport-like clinical features of sensorineural deafness, cataracts and nephritis.

Note=The disease is caused by mutations affecting the gene represented in this entry

Alport syndrome, with macrothrombocytopenia (APSM) [MIM:153650]: An autosomal dominant disorder

characterized by the association of ocular lesions, sensorineural hearing loss and nephritis (Alport syndrome)

with platelet defects. Note=The disease is caused by mutations affecting the gene represented in this entry

Epstein syndrome (EPS) [MIM:153650]: An autosomal dominant disorder characterized by the association of

macrothrombocytopathy, sensorineural hearing loss and nephritis. Note=The disease is caused by mutations

affecting the gene represented in this entry

Deafness, autosomal dominant, 17 (DFNA17) [MIM:603622]: A form of deafness characterized by progressive

high frequency hearing impairment and cochleosaccular degeneration. Note=The disease is caused by mutations

affecting the gene represented in this entry

Macrothrombocytopenia and progressive sensorineural deafness (MPSD) [MIM:600208]: An autosomal dominant

disorder characterized by the association of macrothrombocytopathy and progressive sensorineural hearing loss

without renal dysfunction. Note=The disease is caused by mutations affecting the gene represented in this entry

Note=Subjects with mutations in the motor domain of MYH9 present with severe thrombocytopenia and develop

nephritis and deafness before the age of 40 years, while those with mutations in the tail domain have a much

lower risk of noncongenital complications and significantly higher platelet counts. The clinical course of

patients with mutations in the four most frequently affected residues of MYH9 (responsible for 70% of

MYH9-related cases) were evaluated. Mutations at residue 1933 do not induce kidney damage or cataracts and cause

deafness only in the elderly, those in position 702 result in severe thrombocytopenia and produce nephritis and

deafness at a juvenile age, while alterations at residue 1424 or 1841 result in intermediate clinical pictures

Note=Genetic variations in MYH9 are associated with non-diabetic end stage renal disease (ESRD)

10 diseases for MYH9:
About MalaCards

macrothrombocytopenia and progressive sensorineural deafness myh9-related disorders myh9 related thrombocytopenia deafness, autosomal dominant nonsyndromic sensorineural 17

deafness, autosomal dominant 17 dfna17 nonsyndromic hearing loss and deafness bernard-soulier syndrome alport syndrome

autosomal dominant alport syndrome deafness, autosomal dominant 3b

5 inferred disease relationships from the University of Copenhagen DISEASES database for MYH9:

Thrombocytopenia Sensorineural hearing loss Bernard-Soulier syndrome Kidney disease

Alport syndrome

Find genes that share disorders with MYH9 About GenesLikeMe

Selected Novoseek inferred disease relationships for MYH9 gene (see all 28) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
may-hegglin anomaly	97.7	30	12930685 (2), 19954613 (1), 11935325 (1), 11943476 (1) (see all 18)
sebastian syndrome	96.9	6	11935325 (1), 19408192 (1), 10973259 (1), 11159552 (1) (see all 5)
epsteins syndrome	96.5	11	11943476 (2), 11935325 (1), 17975807 (1), 19408192 (1) (see all 9)
fechtner syndrome	96.3	8	11752022 (2), 17655694 (2), 18718080 (1), 19408192 (1)
platelet disorder	82.7	5	11935325 (2), 19645626 (1), 16044442 (1)
deafness sensorineural	75.6	3	19967157 (1), 10973259 (1), 17655694 (1)
bernard-soulier syndrome	74.8	4	15477207 (1), 14706930 (1), 14635206 (1), 15529446 (1)
alports syndrome	73.9	2	12454218 (1), 11590545 (1)
nephritis	72.1	6	17975807 (1), 19967157 (1), 16978745 (1), 19645626 (1) (see all 6)
thrombocytopenia	69.7	18	15667538 (1), 15869600 (1), 17241369 (1), 19046415 (1) (see all 12)

GeneTests: MYH9
GeneReviews: MYH9
Genetic Association Database (GAD): MYH9
Human Genome Epidemiology (HuGE) Navigator: MYH9 (21 documents)

Export disorders for MYH9 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for MYH9 gene, integrated from 10 sources (see all 342):
(articles sorted by number of sources associating them with MYH9)

Polymorphisms in the non-muscle myosin heavy chain 9 gene (MYH9) are strongly associated with end-stage renal disease historically attributed to hypertension in African Americans. (PubMed id 19177153)^{1, 2, 4, 9} Freedman B.I....Bowden D.W. (Kidney Int. 2009)
Human nonsyndromic hereditary deafness DFNA17 is due to a mutation in nonmuscle myosin MYH9. (PubMed id 11023810)^{1, 2, 3, 9} Lalwani A.K....Mhatre A.N. (Am. J. Hum. Genet. 2000)
MYH9 is a major-effect risk gene for focal segmental glomerulosclerosis. (PubMed id 18794856)^{1, 2, 4, 9} Kopp J.B.... Winkler C.A. (Nat. Genet. 2008)
Human nonmuscle myosin heavy chains are encoded by two genes located on different chromosomes. (PubMed id 1860190)^{1, 2, 3, 9} Simons M.... Weir L. (Circ. Res. 1991)
Immunofluorescence analysis of neutrophil nonmuscle myosin heavy chain-A in MYH9 disorders: association of subcellular localization with MYH9 mutations. (PubMed id 12533692)^{1, 2, 9} Kunishima S.... Saito H. (Lab. Invest. 2003)
Expression of the nonmuscle myosin heavy chain IIA in the human kidney and screening for MYH9 mutations in Epstein and Fechtner syndromes. (PubMed id 11752022)^{1, 2, 9} Arrondel C.... Heidet L. (J. Am. Soc. Nephrol. 2002)
Nonmuscle myosin heavy chain IIA mutations define a spectrum of autosomal dominant macrothrombocytopenias: May-Hegglin anomaly and Fechtner, Sebastian, Epstein, and Alport-like syndromes. (PubMed id 11590545)^{1, 2, 9} Heath K.E....Martignetti J.A. (Am. J. Hum. Genet. 2001)
Position of nonmuscle myosin heavy chain IIA (NMMHC-IIA) mutations predicts the natural history of MYH9-related disease. (PubMed id 18059020)^{1, 2, 9} Pecci A.... Savoia A. (Hum. Mutat. 2008)
Macrothrombocytopenia and progressive deafness is due to a mutation in MYH9. (PubMed id 12621333)^{1, 2, 9} Mhatre A.N.... Lalwani A.K. (Otol. Neurotol. 2003)
The association of the MYH9 gene and kidney outcomes in American Indians: the Strong Heart Family Study. (PubMed id 19921264)^{1, 4, 9} Franceschini N....Cole S.A. (Hum. Genet. 2010)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 4627	HGNC: 7579	AceView: MYH9	Ensembl:ENSG00000100345	euGenes: HUgn4627
ECgene: MYH9	Kegg: 4627	H-InvDB: MYH9

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for MYH9	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for MYH9	Genetics and Cytogenetics in Oncology and Haematology
GeneReviews	http://www.ncbi.nlm.nih.gov/books/NBK1116/?term=MYH9[genesymbol]

Intellectual Property for MYH9 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for MYH9 gene:
Search GeneIP for patents involving MYH9

GeneCards and IP:
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MYH9 Gene

Myosin, Heavy Chain 9, Non-Muscle

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MYH9 (Gene Symbol)
Myosin, Heavy Chain 9, Non-Muscle
DFNA17
Nonmuscle Myosin Heavy Chain II-A
Cellular Myosin Heavy Chain, Type A
Myosin Heavy Chain 9
Myosin Heavy Chain, Non-Muscle IIa
Non-Muscle Myosin Heavy Chain A
Non-Muscle Myosin Heavy Chain IIa
NMMHC-IIA
BDPLT6
FTNS
MHA
Myosin, Heavy Polypeptide 9, Non-Muscle
EPSTS
NMHC-II-A
NMMHCA
myosin-9
Non-Muscle Myosin Heavy Polypeptide 9
NMMHC-A
NMMHC II-A

SEBASTIAN SYNDROME
Myeloid Leukemia
MAY-HEGGLIN ANOMALY
Nephritis
Alports Syndrome
RENAL DISEASE
Macrocytosis
ABNORMAL PLATELETS
Deafness Sensorineural
Hearing Loss Sensorineural
FECHTNER SYNDROME
Proteinuria
restenosis
ACUTE LEUKEMIA
immunodeficiency
Leukemia
Renal Failure
Bernard-Soulier Syndrome
MYH9-Related Disorders
Tumors
Cataract
Graft-Versus-Host Disease
platelet disorder
Glomerulonephritis
Epsteins syndrome
Cleft Palate
Acute graft-versus-host disease
Thrombocytopenia
Renal Failure Chronic

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MYH9 Gene

Myosin, Heavy Chain 9, Non-Muscle

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