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MYH9 Gene

protein-coding GIFtS: 72

GC22M035001

myosin, heavy chain 9, non-muscle
(Previous names: myosin, heavy polypeptide 9, non-muscle )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbol: DFNA17)

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

Aliases
DFNA17 ^², ⁵
EPSTS ^¹, ²
FTNS ^¹, ², ⁵
MGC104539 ^²
MHA ^¹, ², ⁵
NMHC-II-A ^¹, ²
NMMHC-A ^³
NMMHC-IIA ^³
NMMHCA ^¹, ²
OTTHUMP00000028706 ^²

Descriptions
Cellular myosin heavy chain, type A ^², ³
MYH9 variant protein ^²
Myosin heavy chain 9 ^³
Myosin heavy chain, non-muscle IIa ^³
NMMHC II-a ^³
Non-muscle myosin heavy chain A ^³
Non-muscle myosin heavy chain IIa ^³
myosin, heavy chain 9, non-muscle ^²
myosin, heavy polypeptide 9, non-muscle ^¹, ²
non-muscle myosin heavy polypeptide 9 ^²
nonmuscle myosin heavy chain II-A ^²

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

Search outside databases for aliases for MYH9 gene

Previous GC identifers: GC22M033322 GC22M034949

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

EntrezGene summary for MYH9:

This gene encodes a myosin IIA heavy chain that contains an IQ domain and a myosin head-like

domain. The protein is involved in several important functions, including cytokinesis, cell

motility and maintenance of cell shape. Defects in MYH9 are the cause of 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]

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

Gene Wiki entry for MYH9

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:

UCSC Golden Path with GeneCards custom track

Transcription factor binding sites upstream to the MYH9 gene

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)

GeneLoc gene densities for chromosome 22 GeneLoc Exon Structure

GeneLoc location for GC22M035001: (about GC identifiers)

Start:	35,007,272 bp from pter
End:	35,113,958 bp from pter
Size:	106,687 bases
Orientation:	minus strand

RefSeq DNA sequence:

NC_000022.9 NT_011520.11

(According to ¹UniProtKB, and/or Ensembl, Phosphorylation sites according to ²Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
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). 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)

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

Secondary accessions: O60805 Q86T83

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

Post-translational modifications:

View phosphorylation sites using PhosphoSite²

REFSEQ proteins: NP_002464.1

ENSEMBL proteins:

ENSP00000351200 ENSP00000338576 ENSP00000384631 ENSP00000380408 ENSP00000216181

Human Recombinant Proteins

	Browse Drug Discovery Central at Invitrogen for human recombinant proteins
	Browse Purified and Recombinant Proteins at Millipore
	Browse Human Recombinant Proteins at Sigma-Aldrich
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Recombinant Proteins from Abcam (non-muscle Myosin IIA)
	Human Recombinant Proteins from Abnova (MYH9)

Browse Origene for full length recombinant human proteins expressed in human HEK293 cells

5/17 Gene Ontology (GO) cellular component terms (links to tree view) (see all 17 ):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001725	stress fiber	IDA	7699007 14508515 14706930 16403913
GO:0001726	ruffle	IDA	16403913
GO:0001772	immunological synapse	IDA	15064761
GO:0001931	uropod	IDA	15064761
GO:0005634	nucleus	IDA	14508515

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Antibodies for MYH9:

	Browse Antibodies Central at Invitrogen
	Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
	Sigma-Aldrich Antibody Arrays and Antibodies for MYH9
	Browse R&D Systems for Antibodies
	Cell Signaling Technology (CST) Antibodies for MYH9 (Myosin 2a)
	Antibodies from Abcam (non-muscle Myosin IIA), each with their Abpromise^SM
	Monoclonal and Polyclonal Antibodies from Abnova (MYH9)
	Novus Biologicals Antibodies for MYH9

Assays for MYH9:

	Browse Invitrogen for biochemical assays
	Browse Kits and Assays available from Millipore
	Browse R&D Systems for biochemical assays
	Browse biochemical assays available from Enzo Life Sciences

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

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 MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (MYH9)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (MYH9)

OriGene 29mer shRNA kit in GFP-retroviral vector: NM_002473

Applied Biosystems Silencer® siRNAs for MYH9

Sigma-Aldrich siRNA for MYH9

Sigma-Aldrich shRNA Panels and shRNA for MYH9

Explore Sigma-Aldrich super-pooled esiRNAs

Clones:		Browse Clone Ranger at Invitrogen for clones
		Browse Clones for the Expression of Recombinant Proteins Available from Millipore

OriGene GFP tagged cDNA clone in CMV expression vector: NM_002473
Myc/DDK tagged cDNA clone in CMV expression vector: NM_002473
untagged cDNA clones in CMV expression vector (see all 2): AK025393

Primers:

Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers

OriGene genome-wide validated SYBR primer pairs: NM_002473

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

8 MGI mutant phenotypes (inferred from 5 alleles) (MGI details for Myh9):

embryogenesis	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	lethality-prenatal/perinatal
life span-post-weaning/aging	normal	renal/urinary system

5/10 Gene Ontology (GO) molecular function terms (links to tree view) (see all 10 ):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000146	microfilament motor activity	IDA	12237319
GO:0000166	nucleotide binding	IEA	--
GO:0005516	calmodulin binding	IEA	--
GO:0005524	ATP binding	IDA	15065866 15845534
GO:0016887	ATPase activity	IDA	12237319

About this table

(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to ¹UniProtKB, ²MINT, and/or ³STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

5/6 Sigma-Aldrich "Your Favorite Gene" Pathways for MYH9 (Your Favorite Gene powered by Ingenuity) (see all 6 )

Actin Cytoskeleton Signaling
Purine Metabolism
Calcium Signaling
Cellular Effects of Sildenafil (Viagra)
Tight Junction Signaling

GeneDecks MYH9 for the pathways selected above

About GeneDecksing

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

5/58 Interacting proteins for MYH9 (P35579^{1, 2} ENSP00000216181³) via UniProtKB, MINT, and/or STRING (see all 58 )

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
CCR5	P51681¹	EBI-350338, EBI-489374
CXCR4	P61073¹	EBI-350338, EBI-489411
EPB41	P11171¹	EBI-350338, EBI-1050906
MEN1	O00255¹	EBI-350338, EBI-592789
NCL	P19338¹	EBI-350338, EBI-352553

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5/23 Gene Ontology (GO) biological process terms (links to tree view) (see all 23 ):

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

About this table

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

Browse drugs & compounds from Enzo Life Sciences

Browse Small Molecules at Sigma-Aldrich

Compounds for MYH9 available from Tocris Bioscience

Compound	Action	CAS number
(�)-Blebbistatin	Selective inhibitor of myosin II	[674289-55-5]

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4 Novoseek chemical compound relationships for MYH9 gene

Compound	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
phorbol	24.66	1	15496418 (1)
calcium	0.00	1	18312684 (1)
threonine	0.00	1	10945986 (1)
tyrosine	0.00	1	19401332 (1)

About this table

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (MYH9)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (MYH9)

OriGene 29mer shRNA kit in GFP-retroviral vector: NM_002473

Sigma-Aldrich siRNA for MYH9

Sigma-Aldrich shRNA Panels and shRNA for MYH9

Explore Sigma-Aldrich super-pooled esiRNAs

Applied Biosystems Silencer® siRNAs:

NM_002473

REFSEQ mRNAs for MYH9 gene:

NM_002473.4

Applied Biosystems TaqMan ® Gene Expression Assays:

NM_002473

              OriGene GFP tagged cDNA clone in CMV expression vector: NM_002473
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_002473
                                 untagged cDNA clones in CMV expression vector (see all 2): AK025393

Additional cDNA sequence:

AB191263.1 AB290175.1 AK025219.1 AK025393.1 AK131080.1 AK291609.1 AK304840.1 AY562498.1

BC011915.2 BC049849.1 BC090921.1 BC111387.1 BC113067.1 BC131741.1 CR456526.1 D11393.1

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

24/59 DOTS entries (see all 59 ):

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 ):

BU622803 BX279595 BQ876769 BX485568 BQ947257 AI859664 BQ058956 AA856897

BQ890597 BU860353 BC049849 BG325739 AI669260 CN481323 CA415838 BQ924960

AW511726 BQ672665 CB216472 W23678 BQ897174 AW192310 L29141 AW576206

highest scoring ESTs for MYH9:

AL596607 AU133747 BC049849 BG257998 BM471204 BU509830 BX414579 CA390243 CD614928 CD614930

Unigene Cluster for MYH9:

Myosin, heavy chain 9, non-muscle

Hs.474751 [show with all ESTs]

Unigene Representative Sequence: NM_002473

GeneLoc Exon Structure

5/12 Alternative Splicing Database (ASD) splice patterns (SP) for MYH9 (see all 12 )

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:	-				-		-		-		-

About this scheme

ECgene alternative splicing isoforms for MYH9

5 Ensembl transcripts including schematic representations:

ENST00000358424 ENST00000337818 ENST00000401701 ENST00000397231 ENST00000216181

(Experimental results according to ¹GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to ²GeneAnnot , ³GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
About This Section

MYH9 expression in normal and diseased human tissues

Applied Biosystems TaqMan ® Gene Expression Assays for MYH9

¹ / ² / ³

5 probe-sets matching MYH9 gene

Affymetrix probe-set	Array	# genes	Sensitivity	Specificity	Correlation	Length	Gb_Accession	Consensus	Uniqueness	Score	Rank
Affymetrix probe-set	Array	GeneAnnot data			GeneNote data		GeneTide data
39738_at²^{, 3}	U95-A	1	1.00	1.00	0.83	0.96	Z82215	0.20	1.00	0.72	1
72983_at²^{, 3}	U95-E	1	1.00	1.00	0.95	1.14	AI672216	0.60	1.00	0.82	1
71158_r_at*²^{, 3}	U95-E	1	--	--	0.87	0.91	AI126576	0.20	0.50	0.38	1
211926_s_at²^{, 3}	U133-A	1	1.00	1.00	--	--	AI827941	0.40	1.00	0.76	1
211926_s_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--

About this table

Data from

(Publications) and GNF BioGPS
About these images
About these images

CGAP SAGE TAG: TGCTAAAAAA

SOURCE GeneReport for Unigene cluster: Hs.474751
Expression variation in blood from EXPOLDB for MYH9
UniProtKB/Swiss-Prot: MYH9_HUMAN, P35579
Tissue specificity: In the kidney, expressed in the glomeruli. Also expressed in leukocytes

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD and/or ⁵MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section

Orthologs for MYH9 gene from 5/11 species (see all 11 )

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
dog (Canis familiaris)	MYH9¹	--	myosin, heavy chain 9, non-muscle	92.69(n) 98.37(a)	481280 XM_856848.1 XP_861941.1
cow (Bos taurus)	MYH9¹	--	myosin, heavy chain 9, non-muscle	92.01(n) 97.19(a)	404108 XM_612582.3 XP_612582.3
rat (Rattus norvegicus)	Myh9¹	--	myosin, heavy chain 9, non-muscle	89.83(n) 96.22(a)	25745 NM_013194.1 NP_037326.1
mouse (Mus musculus)	Myh9^{1, 5}	15 (43.30 cM)⁵	myosin, heavy polypeptide 9, non-muscle^{1, 5}	90.53(n)¹ 97.09(a)¹	17886¹ NM_022410.2¹ NP_071855.2¹ AJ312390⁵ AK040822⁵ (see all 43)
chicken (Gallus gallus)	MYH9¹	--	myosin, heavy chain 9, non-muscle	80.91(n) 92.75(a)	396469 NM_205477.1 NP_990808.1

About this table Species with no ortholog for MYH9

ENSEMBL Gene Tree for MYH9

(Paralogs according to ¹HomoloGene
and ²Ensembl, Pseudogenes according to ³Pseudogene.org)
About This Section

Paralogs for MYH9 gene

MYH11² MYH10²

(According to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
About This Section

10/731 NCBI SNPs in MYH9 are shown (see all 731 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (see all 239)

AB	SNP ID	Valid	Chr 22 pos	Sequence	Recs	AA Chg	Type	More	Recs	Allele freq	Pop	Total sample	More
AB	Genomic Data				Transcription Data				Allele Frequencies
				--	--	--		--	--				--
--	rs2269529^1,2	A,C,F,H	35014300(+)	`GTCGAT/CGTGCG`	1	V/I	mis¹ ese³		12		MN EU EA WA NA	1282
	rs7078^1,2	A,C,F,O	35007860(-)	`ATATAT/CTTAAT`	1	--	ut3¹		6		MN NA	696
--	rs11703176^1,2	A,C,F,H	35008422(+)	`GGGCCC/ATGTCT`	1	--	ut3¹ ese³		4		EU EA WA	406
--	rs2481^1,2	A,C,F,H	35007346(-)	`TGTTGT/CAGCTG`	1	--	ut3¹ ese³		7		EA MN EU WA	2248
	rs12107^1,2	A,C,F,H	35007928(-)	`GCTGTC/TGGGGT`	1	--	ut3¹ ese³		13		MN EU EA WA NA	1344
--	rs136200^1,2	A,C,F	35008064(+)	`CACTCC/TTCCCC`	1	--	ut3¹ ese³ trp³		1		EA	1494
	rs11089787^1,2	A,C	35008399(+)	`CTGGTC/GGCTCT`	1	--	ut3¹ ese³		0	--	--	--	--
--	rs8138710^1,2	C,F	35114395(+)	`CTGCGG/AGAGCC`	1	--	ng3¹		2		MN EA	356
--	rs16996652^1,2	C,F	35026195(+)	`TGGTCA/TCCTTC`	1	V/E	mis¹ spl³		7		NA EU EA WA	562
	rs136201^1,2	F	35008417(+)	`GGCCCG/AGGCCC`	1	--	ut3¹ ese³		1		MN	184

About this table

HapMap Linkage Disequilibrium images for MYH9 (up to first 250kb)

(in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
About This Section

OMIM: 160775 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 non-syndromic sensorineural 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

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

10/27 Novoseek disease relationships for MYH9 gene (see all 27 )

Disease	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
may-hegglin anomaly	97.64	23	12930685 (2), 11935325 (1), 11943476 (1), 19110523 (1) (see all 15)
sebastian syndrome	97.17	6	11935325 (1), 19408192 (1), 10973259 (1), 11159552 (1) (see all 5)
fechtner syndrome	96.82	8	11752022 (2), 17655694 (2), 18718080 (1), 19408192 (1)
epsteins syndrome	96.12	9	11943476 (2), 11935325 (1), 17975807 (1), 19408192 (1) (see all 7)
platelet disorder	83.32	4	11935325 (2), 16044442 (1)
bernard-soulier syndrome	76.68	4	15477207 (1), 14706930 (1), 14635206 (1), 15529446 (1)
alports syndrome	72.09	2	12454218 (1), 11590545 (1)
thrombocytopenia	68.34	16	15667538 (1), 15869600 (1), 17241369 (1), 19046415 (1) (see all 10)
deafness sensorineural	67.81	2	10973259 (1), 17655694 (1)
nephritis	66.95	4	17975807 (1), 16978745 (1), 10973259 (1), 18059020 (1)

About this table

GeneTests: MYH9

MYH9-Related Disorders

Human Gene Mutation Database: MYH9
Genetic Association Database: MYH9
Human Genome Epidemiology Navigator: MYH9 (8 documents)

(Possibly Related Articles in Doctor's Guide)
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(in PubMed. Associations of this gene to articles via ¹Novoseek, ²HGNC, ³Entrez Gene, ⁴UniProtKB/Swiss-Prot, ⁵UniProtKB/TrEMBL, ⁶GAD, and/or ⁷PharmGKB)
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10/176 PubMed articles for MYH9 gene (see all 176 ):

Human nonsyndromic hereditary deafness DFNA17 is due to a mutation in nonmuscle myosin MYH9. (PubMed id 11023810)^{1, 2, 3, 4} 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, 4} 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, 3, 4} 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, 3, 4} 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, 3, 4} 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, 3, 4} Pecci A....Savoia A. (2008)
Macrothrombocytopenia and progressive deafness is due to a mutation in MYH9. (PubMed id 12621333)^{1, 3, 4} Mhatre A.N.... Lalwani A.K. (2003)
Epstein syndrome: another renal disorder with mutations in the nonmuscle myosin heavy chain 9 gene. (PubMed id 11935325)^{1, 3, 4} 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, 3, 4} Kunishima S....Saito H. (2001)
Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. (PubMed id 10973259)^{1, 3, 4} Seri M.... Martignetti J.A. (2000)

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

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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
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Entrez Gene: 4627	HGNC: 7579	AceView: MYH9	Ensembl:ENSG00000100345	euGenes: HUgn4627
ECgene: MYH9	H-InvDB: MYH9

(According to HUGE)
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(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
ATLAS Chromosomes in Cancer entry for MYH9	Genetics and Cytogenetics in Oncology and Haematology
GeneReviews	http://www.genetests.org/query?gene=MYH9

Licensable Technologies for MYH9
(Available from WIS Yeda, Salk, Tufts)

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(Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
Enzo Life Sciences, and/or Tocris Bioscience)
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Products for MYH9:

TaqMan ® Gene Expression Assays

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Invitrogen Proteins / Assays / Screening Services	Search Invitrogen catalog for MYH9-related products

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Antibodies & Assays for MYH9 (Myosin 2a)

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	Antibodies (non-muscle Myosin IIA)

Search OriGene for MYH9

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Antibodies for MYH9

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MYH9 Gene

protein-coding GIFtS: 72

Aliases &
Descriptions
for MYH9

Summaries
for MYH9

Genomic Location
for MYH9

Proteins
for MYH9

Protein Domains/
Families
for MYH9

Gene Function
for MYH9

Pathways & Interactions
for MYH9

Drugs & Compounds
for MYH9

Transcripts
for MYH9

Expression
for MYH9

Orthologs
for MYH9

Paralogs
for MYH9

SNPs/Variants
for MYH9

Disorders & Mutations
for MYH9

Medical News
for MYH9

Publications
for MYH9

Search for MYH9

Genome Databases showing MYH9

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Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

MYH9 (Gene Symbol)
DFNA17
EPSTS
FTNS
MGC104539
MHA
NMHC-II-A
NMMHC-A
NMMHC-IIA
NMMHCA
OTTHUMP00000028706
Cellular myosin heavy chain, type A
MYH9 variant protein
Myosin heavy chain 9
Myosin heavy chain, non-muscle IIa
NMMHC II-a
Non-muscle myosin heavy chain A
Non-muscle myosin heavy chain IIa
myosin, heavy chain 9, non-muscle
myosin, heavy polypeptide 9, non-muscle
non-muscle myosin heavy polypeptide 9
nonmuscle myosin heavy chain II-A

MYH9 Gene

protein-coding GIFtS: 72

Aliases & Descriptionsfor MYH9

Summariesfor MYH9

Genomic Locationfor MYH9

Proteinsfor MYH9

Protein Domains/Familiesfor MYH9

Gene Functionfor MYH9

Pathways & Interactionsfor MYH9

Drugs & Compoundsfor MYH9

Transcriptsfor MYH9

Expression for MYH9

Orthologsfor MYH9

Paralogsfor MYH9

SNPs/Variantsfor MYH9

Disorders & Mutationsfor MYH9

Medical Newsfor MYH9

Publicationsfor MYH9

Search for MYH9

Genome Databases showing MYH9

Other Databases showing MYH9

Specialized Databases showing MYH9

Licensable Technologiesfor MYH9

Servicesfor MYH9

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Aliases &
Descriptions
for MYH9

Summaries
for MYH9

Genomic Location
for MYH9

Proteins
for MYH9

Protein Domains/
Families
for MYH9

Gene Function
for MYH9

Pathways & Interactions
for MYH9

Drugs & Compounds
for MYH9

Transcripts
for MYH9

Expression
for MYH9

Orthologs
for MYH9

Paralogs
for MYH9

SNPs/Variants
for MYH9

Disorders & Mutations
for MYH9

Medical News
for MYH9

Publications
for MYH9

Licensable Technologies
for MYH9

Services
for MYH9