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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)

Explore 60 diseases affiliated with
MYH9 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Myosin, Heavy Chain 9, Non-Muscle¹ ²		Non-Muscle Myosin Heavy Chain A² ³
DFNA17¹ ² ⁵		Non-Muscle Myosin Heavy Chain IIa² ³
FTNS¹ ² ⁵		NMMHC-IIA² ³
MHA¹ ² ⁵		Myosin, Heavy Polypeptide 9, Non-Muscle¹
EPSTS¹ ²		BDPLT6²
NMHC-II-A¹ ²		Myosin-9¹
NMMHCA¹ ²		Non-Muscle Myosin Heavy Polypeptide 9²
Cellular Myosin Heavy Chain, Type A² ³		Nonmuscle Myosin Heavy Chain II-A²
Myosin Heavy Chain 9² ³		NMMHC-A³
Myosin Heavy Chain, Non-Muscle IIa² ³		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:

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)

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:

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

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

RefSeq DNA sequence:

NC_000022.10 NC_018933.1 NT_011520.12

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 ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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

Post-translational modifications:

ISGylated¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P35579

MYH9 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_002464.1

ENSEMBL proteins:

ENSP00000216181 ENSP00000384631 ENSP00000414852

Reactome Protein details: P35579
Human Recombinant Protein Products:

	Browse Purified and Recombinant Proteins at EMD Millipore
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	Novus Biologicals MYH9 Proteins
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn 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	15774463
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
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	GenScript Custom Superior Antibodies Services for MYH9
	Novus Biologicals MYH9 Antibodies
	Abcam antibodies for MYH9
	Uscn Antibodies for MYH9
	ThermoFisher Antibody for MYH9

Assay Products for MYH9:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for MYH9
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for MYH9

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

MYH9 for domains About GeneDecksing

5 InterPro domains/families:

IPR004009 Myosin_N

IPR000048 IQ_motif_EF-hand-BS

IPR002928 Myosin_tail

IPR016137 Regulat_G_prot_signal_superfam

IPR001609 Myosin_head_motor_dom

Graphical View of Domain Structure for InterPro Entry P35579

ProtoNet protein and cluster: P35579

4 Blocks protein families:

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

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

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

Genatlas biochemistry entry for MYH9:

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

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

		OriGene 3'-UTR Clone: MYH9 Browse MicroRNA Expression Plasmids
		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 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for MYH9 (see all 7) OriGene shRNA RFP: MYH9 OriGene siRNA: MYH9
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat MYH9

Gene Editing
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DNA2.0 Custom Protein Engineering Service for MYH9

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		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for MYH9 (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, 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)
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		DNA2.0 Custom Codon Optimized Gene Synthesis Service for MYH9
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Cell Line Products:		GenScript Custom overexpressing Cell Line Services for MYH9
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MYH9

Gene Ontology (GO): 5/12 molecular function terms (GO ID links to tree view) (see all 12): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000146	microfilament motor activity	IDA	15845534
GO:0003774	motor activity	NAS	12421915
GO:0003779	actin binding	IDA	15065866
GO:0005515	protein binding	IPI	16403913
GO:0005516	calmodulin binding	IEA	--

MYH9 for ontologies About GeneDecksing

2 GenomeRNAi human phenotypes for MYH9:

Increased focal adhesion (FA)

Large cells

Animal Models:
Mouse knock-out Myh9^tm1Maco for MYH9
13 MGI mutant phenotypes (inferred from 11 alleles) (MGI details for Myh9):

cardiovascular system	cellular	embryogenesis	growth/size	hearing/vestibular/ear
hematopoietic system	homeostasis/metabolism	immune system	mortality/aging	nervous system
no phenotypic analysis	normal	renal/urinary system

MYH9 for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/19 super-pathways (see all 19) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Cell adhesion_Integrin-mediated cell adhesion and migration

	Cell adhesion_Integrin-mediated cell adhesion and migration	1.00			Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases	0.49
	Cell adhesion Integrin-mediated cell adhesion and migration	1.00			Cytoskeleton remodeling_Regulation of actin cytoskeleton by Rho GTPases	0.49

Immune response _CCR3 signaling in eosinophils

	Immune response _CCR3 signaling in eosinophils	1.00			Inhibitory action of Lipoxins on neutrophil migration	0.51
	Immune response CCR3 signaling in eosinophils	1.00

Regulation of actin dynamics for phagocytic cup formation

	Regulation of actin dynamics for phagocytic cup formation	1.00			Fcgamma receptor (FCGR) dependent phagocytosis	0.80
	Role of myosins in phagosome formation	0.80

PAK Pathway

	PAK Pathway	1.00			Epithelial Adherens Junctions	0.36
	Antioxidant Action of Vitamin-C	0.56

Sema4D in semaphorin signaling

	Sema4D in semaphorin signaling	1.00			Semaphorin interactions	0.44
	Sema4D induced cell migration and growth-cone collapse	0.83

Pathway sources
See GeneCards unified pathways
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

5/10 Reactome Pathways for MYH9 (see all 10)

	Developmental Biology
	Role of myosins in phagosome formation
	Fcgamma receptor (FCGR) dependent phagocytosis
	Semaphorin interactions
	Sema4D induced cell migration and growth-cone collapse

3 Kegg Pathways (Kegg details for MYH9):

	Tight junction
	Regulation of actin cytoskeleton
	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)

5/953 Interacting proteins for MYH9 (P35579^{1, 2, 3} ENSP00000216181⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 953)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
NCL	P19338¹^,²^,³, ENSP00000318195⁴	EBI-1054343,EBI-352553 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): 5/26 biological process terms (GO ID links to tree view) (see all 26): 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, 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 #
(R)-(+)-Blebbistatin	Selective inhibitor of myosin II. Inactive enantiomer of (�)-blebbistatin (Cat. No. 1760)	--
(S)-(-)-Blebbistatin	Selective inhibitor of myosin II. Active enantiomer of (�)-blebbistatin (Cat. No. 1760)	[856925-71-8]
(�)-Blebbistatin	Selective inhibitor of myosin II	[674289-55-5]

4 Novoseek 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 235 Homo sapiens; Mar 10 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,
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, 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

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

ENST00000216181(uc003apg.3 uc003aph.1) ENST00000475726 ENST00000486218

ENST00000459960 ENST00000495928 ENST00000473022 ENST00000477189 ENST00000472210

ENST00000463027 ENST00000463293 ENST00000401701(uc003api.1) ENST00000456729

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		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

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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MYH9

Additional cDNA 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.100659641 DT.120655676 DT.91811745 DT.102840742 DT.95347683 DT.97867641 DT.120655554

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

BQ433063 AI287313 BQ058956 H55296 BU622803 BU169188 BE311756 BU626369

CA388984 AA856897 BF689443 BE795516 AW008451 CF995724 CK000662 AA666146

BU500273 AI925868 BU501267 BU632240 BQ947257 AI859664 BQ876769 BI020066

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
CGAP TAG: TGCTAAAAAA

About this image

MYH9 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

2 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Skeletal Muscle

Hyoid Arch Muscles

Myoblasts

Skeletal Muscle

Mandibular Arch Muscles

Myoblasts

Skeletal Muscle

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

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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Cell Motility in human mouse rat

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In Situ
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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.

Orthologs for MYH9 gene from 6/22 species (see all 22) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
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	--	92(a)	1 ↔ 1	5(22051567-22103593)
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) --

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 MYH13² MYH10² MYH7B²

MYH4² MYH3² MYH15² MYH6² MYH7²

18/39 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 variant protein MYH7 MYO15A MYO9A

MYH6 MYO1H MYH13 MYH2 MYO1G MYH7B

MYH9 for paralogs About GeneDecksing

1 Pseudogenes.org Pseudogene for MYH9
PGOHUM00000263186

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, 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	Valid	Clinical significance	Chr 22 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs16996652^1,2	C	non-pathogenic	36696249(+)	`TGGTCA/TCCTTC`	2	E V	mis¹ spl³		4		NA	144
rs80338835^1,2	C	pathogenic	36678800(-)	`CCCGCC/TGAATG`	2	R *	stg¹		0	--	--	--	--
rs80338834^1,2	C	pathogenic	36680520(-)	`GGACCA/GAGAAG`	2	K E	mis¹		0	--	--	--	--
rs80338831^1,2	C	pathogenic	36688106(-)	`TGGACA/C/G/T ACCTG`	4	N H D Y	mis¹		0	--	--	--	--
rs80338829^1,2	C	pathogenic	36691115(-)	`CAAAAC/TGTGAG`	2	R C	mis¹		0	--	--	--	--
rs80338828^1,2	C	pathogenic	36702021(-)	`CTGCCA/GCCAGG`	2	H R	mis¹		0	--	--	--	--
rs80338827^1,2	C	pathogenic	36702030(-)	`CATCCA/GTATCT`	2	H R	mis¹		0	--	--	--	--
rs80338826^1,2	C	pathogenic	36702031(-)	`GCATCC/TGTATC`	2	R C	mis¹		0	--	--	--	--
rs141904682^1,2	C,	other	36689833(+)	`CCAGCA/GCGGAG`	2	A V	mis¹		0	--	--	--	--
rs192191881^1,2		--	36676888(+)	`CAATCG/TTAGCT`	1	--	ds500¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for MYH9 (36677323 - 36784063 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for MYH9
1 CNV: 5183
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, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

MYH9 for disorders           About GeneDecksing

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

Defects in MYH9 are the cause of May-Hegglin anomaly (MHA) [MIM:155100]. MHA is an autosomal dominant

macrothrombocytopenia characterized by thrombocytopenia, giant platelets and leukokyte inclusions appearing as highly

parallel paracrystalline bodies

Defects in MYH9 are the cause of Sebastian syndrome (SBS) [MIM:605249]. SBS is an autosomal dominant

macrothrombocytopenia characterized by thrombocytopenia, giant platelets and leukocyte inclusions that are smaller and

less organized than in May-Hegglin anomaly

Defects in MYH9 are the cause of Fechtner syndrome (FTNS) [MIM:153640]. FTNS is an 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

Defects in MYH9 are the cause of Alport syndrome with macrothrombocytopenia (APSM) [MIM:153650]. APSM is an

autosomal dominant disorder characterized by the association of ocular lesions, sensorineural hearing loss and

nephritis (Alport syndrome) with platelet defects

Defects in MYH9 are the cause of Epstein syndrome (EPS) [MIM:153650]. EPS is an autosomal dominant disorder

characterized by the association of macrothrombocytopathy, sensorineural hearing loss and nephritis

Defects in MYH9 are the cause of deafness autosomal dominant type 17 (DFNA17) [MIM:603622]. DFNA17 is a form

of sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear,

the nerve pathways to the brain, or the area of the brain that receives sound information. DFNA17 is characterized by

progressive hearing impairment and cochleosaccular degeneration

Defects in MYH9 are the cause of macrothrombocytopenia with progressive sensorineural deafness (MPSD)

[MIM:600208]. MPSD is an autosomal dominant disorder characterized by the association of macrothrombocytopathy and

progressive sensorineural hearing loss without renal dysfunction

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)

20/60 diseases for MYH9 (see all 60): About MalaCards

macrothrombocytopenia and progressive sensorineural deafness may-hegglin anomaly sebastian syndrome macrothrombocytopenia

fechtner syndrome alport syndrome epstein syndrome bernard-soulier syndrome

deafness, autosomal dominant 17 graft versus host disease acute graft versus host disease autosomal dominant alport syndrome

macrothrombocytopenia progressive deafness cleft lip/palate focal segmental glomerulosclerosis hearing loss

sensorineural hearing loss anaplastic large cell lymphoma cleft lip cleft palate

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

Thrombocytopenia Sensorineural hearing loss Bernard-Soulier syndrome Kidney disease

Alport syndrome

10/28 Novoseek 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

MYH9-Related Disorders

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 301):
(articles sorted by number of sources associating them with MYH9)

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

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)
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)
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, 9} Freedman B.I....Bowden D.W. (2009)
Epstein syndrome: another renal disorder with mutations in the nonmuscle myosin heavy chain 9 gene. (PubMed id 11935325)^{1, 2, 9} Seri M.... Savoia A. (2002)
Identification of six novel MYH9 mutations and genotype-phenotype relationships in autosomal dominant macrothrombocytopenia with leukocyte inclusions. (PubMed id 11776386)^{1, 2, 9} Kunishima S....Saito H. (2001)

(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, 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
FTNS
MHA
EPSTS
NMHC-II-A
NMMHCA
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
Myosin, Heavy Polypeptide 9, Non-Muscle
BDPLT6
Myosin-9
Non-Muscle Myosin Heavy Polypeptide 9
Nonmuscle Myosin Heavy Chain II-A
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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