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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

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)

Microbiology & Infectious Diseases Congress

59 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		MHA² ⁵
DFNA17¹ ² ⁵		Myosin, Heavy Polypeptide 9, Non-Muscle¹
Nonmuscle Myosin Heavy Chain II-A¹ ²		BDPLT6²
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
FTNS² 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, 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 sebastian syndrome, and myh9-related disorders, and among its related super-pathways are Immune response CCR3 signaling in eosinophils and Antioxidant Action of Vitamin-C. 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

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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000022.10 NT_011520.12 NC_018933.2

Regulatory elements:

SABiosciences 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 SABiosciences Chromatin IP Primers for MYH9

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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

Subcellular location: 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 (By

similarity)

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: O60805 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:

UniProtKB: ISGylated

View modification sites using PhosphoSitePlus

View neXtProt modification sites for NX_P35579

MYH9 Protein expression data from MOPED¹, PaxDb² and MAXQB³ : About this image

REFSEQ proteins: NP_002464.1

ENSEMBL proteins:

ENSP00000216181 ENSP00000384631 ENSP00000414852

Reactome Protein details: P35579
Human Recombinant Protein Products for MYH9:

	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

Gene Ontology (GO): 5/23 cellular component terms (GO ID links to tree view) (see all 23): 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

MYH9 for ontologies About GeneDecksing

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
	GenScript Custom Superior Antibodies Services for MYH9
	Novus Biologicals MYH9 Antibodies
	Abcam antibodies for MYH9
	Cloud-Clone Corp. Antibodies for MYH9
	ThermoFisher Antibody for MYH9
	LSBio Antibodies in human, mouse, rat for MYH9

Assay Products for MYH9:

	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

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

HGNC Gene Families:

MYHII: Myosins / Myosin superfamily : Class II

5/7 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

MYH9 for domains About GeneDecksing

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
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

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): 5/15 molecular function terms (GO ID links to tree view) (see all 15): 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

MYH9 for ontologies About GeneDecksing

Phenotypes:
2 GenomeRNAi human phenotypes for MYH9:

Increased focal adhesion (FA)

Large cells

13 MGI mutant phenotypes (inferred from 15 alleles) (MGI details for Myh9):

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

MYH9 for phenotypes About GeneDecksing

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

inGenious Targeting Laboratory - Custom generated mouse model solutions for MYH9

inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for MYH9

genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for MYH9

genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for MYH9

miRNA Products:		miRTarBase miRNAs that target MYH9: hsa-mir-124 (MIRT002579)

		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat MYH9
		8/47 QIAGEN miScript miRNA 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:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene RNAi products in human, mouse, rat for MYH9
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat MYH9

Gene Editing Products:			DNA2.0 Custom Protein Engineering Service for MYH9
			Sirion Biotech Customized adenovirus for overexpression of MYH9

Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
		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

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for MYH9
		Search LifeMap BioReagents cell lines for MYH9

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MYH9

(Pathways according to EMD Millipore, 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 GeneDecks, Interaction Networks according to SABiosciences, 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 Oct 2013 via Entrez Gene).
About This Section

SuperPaths for MYH9 About (see all 19)

See pathways by source

SuperPath

Contained pathways About

Immune response CCR3 signaling in eosinophils

Immune response CCR3 signaling in eosinophils

0.51

Inhibitory action of Lipoxins on neutrophil migration

0.51

PAK Pathway

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

Cell adhesion Integrin-mediated cell adhesion and migration

	Cell adhesion Integrin-mediated cell adhesion and migration	0.49			Cell adhesion Tight junctions	0.33
	Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases	0.49

Sema4D in semaphorin signaling

	Sema4D in semaphorin signaling	0.89			Semaphorin interactions	0.41
	Sema4D induced cell migration and growth-cone collapse	0.89

Fcgamma receptor (FCGR) dependent phagocytosis

Regulation of actin dynamics for phagocytic cup formation

0.80

Fcgamma receptor (FCGR) dependent phagocytosis

0.80

Pathways by source See SuperPaths
Show all pathways

5 EMD Millipore Pathways for MYH9

	Cell adhesion Integrin-mediated cell adhesion and migration
	Cell adhesion Tight junctions
	Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases
	Immune response CCR3 signaling in eosinophils
	Development MAG-dependent inhibition of neurite outgrowth

5/11 Downloadable PowerPoint Slides of QIAGEN 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

5/6 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

5/9 Reactome Pathways for MYH9 (see all 9)

	Developmental Biology
	Fcgamma receptor (FCGR) dependent phagocytosis
	Semaphorin interactions
	Sema4D induced cell migration and growth-cone collapse
	Regulation of actin dynamics for phagocytic cup formation

4 Kegg Pathways (Kegg details for MYH9):

	Tight junction
	Regulation of actin cytoskeleton
	Salmonella infection
	Viral myocarditis

MYH9 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for MYH9

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

5/991 Interacting proteins for MYH9 (P35579^{1, 2, 3} ENSP00000216181⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 991)

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
ACTB	P60709²^,³, ENSP00000349960⁴	MINT-7945693 MINT-7899812 MINT-7900157 MINT-7947479 I2D: score=4 STRING: ENSP00000349960
HSP90AB1	P08238²^,³	MINT-7945693 MINT-72662 MINT-7947479 I2D: score=3
CALM1	P62158²^,³	MINT-7899812 I2D: score=1
CALM2	P62158²^,³	MINT-7899812 I2D: score=1

About this table

Gene Ontology (GO): 5/28 biological process terms (GO ID links to tree view) (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	--

MYH9 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

MYH9 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

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)

Search CenterWatch for drugs/clinical trials and news about MYH9

(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,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
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

Congresses - knowledge worth sharing:
European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

miRNA Products:		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat MYH9
		8/47 QIAGEN miScript miRNA 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:		Browse for Gene Knock-down Tools from EMD Millipore
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		QIAGEN FlexiTube/FlexiPlate 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

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		SABiosciences RT² qPCR Primer Assay in human, mouse, rat MYH9
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat MYH9
		QIAGEN 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

24/58 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

24/1191 AceView cDNA sequences (see all 1191):

BQ688338 BU632240 AW192058 BM454409 CA442197 BU625874 AI539529 AW511726

BQ707568 BQ641343 AA856897 AW511520 CA430467 BU622803 BE795516 H55296

BG325739 AW004952 CF995724 BE311756 BI028048 CN484067 BQ920939 AW583843

GeneLoc Exon Structure

5/12 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 GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, 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

See MYH9 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for MYH9

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

SABiosciences Expression via Pathway-Focused PCR Arrays including MYH9:

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(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 8/17 species (see all 17) 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_022410.2¹ 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	Uncharacterized protein	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)

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)
About This Section

Paralogs for MYH9 gene

MYH8² MYH1² MYH2² MYH11² MYH14² MYH10² MYH13² MYH7B²

MYH4² MYH3² MYH15² MYH6² MYH7²

18/40 SIMAP similar genes for MYH9 using alignment to 6 protein entries: MYH9_HUMAN (see all proteins) (see all similar genes):

FLJ00279 DKFZp686D10126 MYH11 MYH10 MYH14 MYO1C

MYO1E MYO3B MYO9B MYO9B variant protein MYH7 MYO15A

MYO9A MYH6 MYO1H MYH13 MYH2 MYO1G

MYH9 for paralogs About GeneDecksing

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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
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) 10/11 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

SABiosciences Cancer Mutation PCR Assays

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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)

20/59 diseases for MYH9 (see all 59): About MalaCards

sebastian syndrome myh9-related disorders macrothrombocytopenia progressive deafness deafness, autosomal dominant 17

macrothrombocytopenia and progressive sensorineural deafness myh9 related thrombocytopenia dfna17 nonsyndromic hearing loss and deafness macrothrombocytopenia

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

acute graft versus host disease was-related disorders graft versus host disease syphilis

focal segmental glomerulosclerosis fasciitis cleft palate nephritis

5 diseases from the University of Copenhagen DISEASES database for MYH9:

Thrombocytopenia Sensorineural hearing loss Bernard-Soulier syndrome Kidney disease

Alport syndrome

MYH9 for disorders About GeneDecksing

10/28 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 9 sources (see all 328):
(articles sorted by number of sources associating them with MYH9)

Utopia: connect your pdf to the dynamic
world of online information

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. (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. (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. (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. (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. (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. (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. (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. (2008)
Macrothrombocytopenia and progressive deafness is due to a mutation in MYH9. (PubMed id 12621333)^{1, 2, 9} Mhatre A.N.... Lalwani A.K. (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. (2010)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
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(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, and/or UniProtKB/TrEMBL,
Wikipedia and/or 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/sites/GeneTests/lab/gene/MYH9

Intellectual Property for MYH9 gene
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Patent Information for MYH9 gene:
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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
FTNS
MHA
Myosin, Heavy Polypeptide 9, Non-Muscle
BDPLT6
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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