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MYH11 Gene

protein-coding GIFtS: 71

GC16M015704

myosin, heavy chain 11, smooth muscle
(Previous names: myosin, heavy polypeptide 11, smooth muscle )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc , and/or ⁷Ensembl, ⁸miRBase)
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Aliases
AAT4 ^², ⁵
DKFZp686D10126 ^²
DKFZp686D19237 ^²
FAA4 ^², ⁵
FLJ35232 ^²
KIAA0866 ^³
MGC126726 ^²
MGC32963 ^²
SMHC ^¹, ²
SMMHC ^¹, ², ³

Descriptions
Myosin heavy chain 11 ^³
Myosin heavy chain, smooth muscle isoform ^³
myosin, heavy chain 11, smooth muscle ^²
myosin, heavy polypeptide 11, smooth muscle ^¹, ²
smooth muscle myosin heavy chain 11 ^²

External Ids
HGNC: 7569¹
Entrez Gene: 4629²
UniProtKB: P35749³
Ensembl: ENSG00000133392⁷

Search outside databases for aliases for MYH11 gene

Previous GC identifers: GC16M015624 GC16M015079 GC16M015724 GC16M015763

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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EntrezGene summary for MYH11:

The protein encoded by this gene is a smooth muscle myosin belonging to the myosin heavy chain

family. The gene product is a subunit of a hexameric protein that consists of two heavy chain

subunits and two pairs of non-identical light chain subunits. It functions as a major contractile

protein, converting chemical energy into mechanical energy through the hydrolysis of ATP. The gene

encoding a human ortholog of rat NUDE1 is transcribed from the reverse strand of this gene, and

its 3' end overlaps with that of the latter. The pericentric inversion of chromosome 16

[inv(16)(p13q22)] produces a chimeric transcript that encodes a protein consisting of the first

165 residues from the N terminus of core-binding factor beta in a fusion with the C-terminal

portion of the smooth muscle myosin heavy chain. This chromosomal rearrangement is associated with

acute myeloid leukemia of the M4Eo subtype. Alternative splicing generates isoforms that are

differentially expressed, with ratios changing during muscle cell maturation. Alternatively

spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq]

UniProtKB/Swiss-Prot: MYH11_HUMAN, P35749

Function: Muscle contraction

Gene Wiki entry for MYH11

(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)
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Genomic View:

UCSC Golden Path with GeneCards custom track

Transcription factor binding sites upstream to the MYH11 gene

Entrez Gene cytogenetic band: 16p13.11 Ensembl cytogenetic band: 16p13.11 HGNC cytogenetic band: 16p13.11

MYH11 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 16 GeneLoc Exon Structure

GeneLoc location for GC16M015704: (about GC identifiers)

Start:	15,704,493 bp from pter
End:	15,858,388 bp from pter
Size:	153,896 bases
Orientation:	minus strand

RefSeq DNA sequence:

NC_000016.8 NT_010393.15

(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)
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UniProtKB/Swiss-Prot: MYH11_HUMAN, P35749 (See protein sequence)

Recommended Name: Myosin-11

Size: 1972 amino acids; 227339 Da

Subunit: Muscle 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)

Subcellular location: Melanosome. Note=Identified by mass spectrometry in melanosome fractions from

stage I to stage IV. Thick filaments of the myofibrils

Miscellaneous: Each myosin heavy chain can be split into 1 light meromyosin (LMM) and 1 heavy

meromyosin (HMM). It can later be split further into 2 globular subfragments (S1) and 1 rod-shaped

subfragment (S2)

Secondary accessions: O00396 O94944 P78422

Post-translational modifications:

View phosphorylation sites using PhosphoSite²

REFSEQ proteins (4 alternative transcripts):

NP_001035202.1 NP_001035203.1 NP_002465.1 NP_074035.1

ENSEMBL proteins:

ENSP00000345136 ENSP00000379613 ENSP00000300036 ENSP00000379616

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 (smooth muscle Myosin heavy chain I , smooth muscle Myosin heavy chain 2 , Myosin, smooth muscle heavy chain 1 and 2)
	Browse Abnova for Human Recombinant Proteins

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

3 Gene Ontology (GO) cellular component terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005863	striated muscle thick filament	IEA	--
GO:0016459	myosin complex	IEA	--
GO:0042470	melanosome	IEA	--

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Antibodies for MYH11:

	Browse Antibodies Central at Invitrogen
	Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
	Sigma-Aldrich Antibodies for MYH11
	Browse R&D Systems for Antibodies
	Antibodies from Abcam (smooth muscle Myosin heavy chain I , smooth muscle Myosin heavy chain 2 , Myosin, smooth muscle heavy chain 1 and 2), each with their Abpromise^SM
	Monoclonal and Polyclonal Antibodies from Abnova (MYH11)
	Search Novus for antibodies for MYH11

Assays for MYH11:

	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)
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Graphical View of Domain Structure for InterPro Entry P35749

ProtoNet protein and cluster: P35749

3 Blocks protein families:

IPB000048 IQ calmodulin-binding region

IPB002928 Myosin tail

IPB004009 Myosin N-terminal SH3-like domain

UniProtKB/Swiss-Prot: MYH11_HUMAN, P35749

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.)
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Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (MYH11)
		Browse for Gene Knock-down Tools from Millipore
		Browse Abnova for Chimera RNAi Products

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 4): NM_001040113

Applied Biosystems Silencer® siRNAs for MYH11

Sigma-Aldrich siRNA for MYH11

Sigma-Aldrich shRNA for MYH11

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 clones in CMV expression vector (see all 4): NM_001040113
Myc/DDK tagged cDNA clones in CMV expression vector (see all 4): NM_001040113
untagged cDNA clones in CMV expression vector (see all 5): NM_001040113

Primers:

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

OriGene genome-wide validated SYBR primer pairs: NM_001040114

UniProtKB/Swiss-Prot: MYH11_HUMAN, P35749

Function: Muscle contraction

Genatlas biochemistry entry for MYH11:

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

11,smooth muscle,altered in acute myeloid leukemia (AML-M4Eo) with inversion

inv(16)(p13-q22),forming chimeric protein with CBFB

12 MGI mutant phenotypes (inferred from 4 alleles) (MGI details for Myh11):

	digestive/alimentary	growth/size	homeostasis/metabolism	lethality-postnatal
lethality-prenatal/perinatal	life span-post-weaning/aging	muscle	no phenotypic analysis	renal/urinary system
respiratory system	skin/coat/nails

5/6 Gene Ontology (GO) molecular function terms (links to tree view) (see all 6 ):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000166	nucleotide binding	IEA	--
GO:0003774	motor activity	IEA	--
GO:0003779	actin binding	IEA	--
GO:0005516	calmodulin binding	IEA	--
GO:0005524	ATP binding	IEA	--

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.)
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5 Sigma-Aldrich "Your Favorite Gene" Pathways for MYH11 (Your Favorite Gene powered by Ingenuity)

Cellular Effects of Sildenafil (Viagra)
Tight Junction Signaling
Calcium Signaling
Hepatic Fibrosis / Hepatic Stellate Cell Activation
Actin Cytoskeleton Signaling

GeneDecks MYH11 for the pathways selected above

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Gene Network Central^TM Interacting Genes and Proteins Network for MYH11

5/15 Interacting proteins for MYH11 (ENSP00000300036³) via UniProtKB, MINT, and/or STRING (see all 15 )

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
CBFB	ENSP00000290858³	STRING (score=.955)
CSNK2A2	ENSP00000262506³	STRING (score=.9)
RUNX1	ENSP00000300305³	STRING (score=.887)
CAMK2G	ENSP00000319060³	STRING (score=.875)
SRF	ENSP00000265354³	STRING (score=.854)

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5 Gene Ontology (GO) biological process terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006939	smooth muscle contraction	ISS	--
GO:0006941	striated muscle contraction	IEA	--
GO:0030241	muscle thick filament assembly	ISS	--
GO:0048251	elastic fiber assembly	IMP	16444274
GO:0048739	cardiac muscle fiber development	IMP	16444274

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(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)
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Browse drugs & compounds from Enzo Life Sciences

Browse Small Molecules at Sigma-Aldrich

Compounds for MYH11 available from Tocris Bioscience

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

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5 Novoseek chemical compound relationships for MYH11 gene

Compound	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
ptca	16.56	2	10850529 (2)
phosphatidylinositol	14.63	1	16310342 (1)
hematoxylin	0.00	1	16771768 (1)
nitric oxide	0.00	7	11133226 (5), 16293963 (1)
progesterone	0.00	2	11474284 (1), 9761786 (1)

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(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 (MYH11)
		Browse for Gene Knock-down Tools from Millipore
		Browse Abnova for Chimera RNAi Products

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 4): NM_001040113

Sigma-Aldrich siRNA for MYH11

Sigma-Aldrich shRNA for MYH11

Explore Sigma-Aldrich super-pooled esiRNAs

Applied Biosystems Silencer® siRNAs:

NM_001040113 NM_001040114 NM_002474 NM_022844

REFSEQ mRNAs for MYH11 gene (4 alternative transcripts):

NM_001040113.1 NM_001040114.1 NM_002474.2 NM_022844.2

Applied Biosystems TaqMan ® Gene Expression Assays:

NM_001040113 NM_001040114 NM_002474 NM_022844

               OriGene GFP tagged cDNA clones in CMV expression vector (see all 4): NM_001040113
                                 Myc/DDK tagged cDNA clones in CMV expression vector (see all 4): NM_001040113
                                 untagged cDNA clones in CMV expression vector (see all 5): NM_001040113

Additional cDNA sequence:

AB020673.2 AF013570.1 AF020091.1 AK097036.1 AK125033.1 AK130413.1 AK130790.1 AK308389.1

AK311080.1 AY520816.1 AY520817.1 BC031040.1 BC080545.1 BC101677.1 BC104906.1 BC143364.1

BX641087.1 CR749516.1 D10667.1 EU489063.1 S67238.1 S67240.1 X69292.1

24/59 DOTS entries (see all 59 ):

DT.92462085 DT.319908 DT.95194449 DT.92338250 DT.100886298 DT.95097778 DT.92462100 DT.95360288

DT.100886307 DT.92367239 DT.91955791 DT.87078354 DT.120692421 DT.40263399 DT.100886312 DT.92462086

DT.92010540 DT.105335 DT.120692268 DT.100656720 DT.319913 DT.95077661 DT.95263528 DT.100886309

24/46 AceView cDNA sequences (see all 46 ):

AA403323 T64384 CB051599 AA456649 AA490636 AA400026 AA398387 T64197

CD614958 BE836037 H67531 BF858934 H67530 H45725 BE769923 BF372517

BE834601 H26832 BF848699 AW603577 BF846288 BQ367721 AI335421 AW844110

highest scoring ESTs for MYH11:

AA436539 AB020673 AF013570 AL047450 AL710489 BI461107 BX471348 BX489729 BX489788 BX504060

Unigene Cluster for MYH11:

Myosin, heavy chain 11, smooth muscle

Hs.460109 [show with all ESTs]

Unigene Representative Sequence: NM_001040113

GeneLoc Exon Structure

5/16 Alternative Splicing Database (ASD) splice patterns (SP) for MYH11 (see all 16 )

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

ExUns:	20b	^	21a	·	21b	^	22a	·	22b	·	22c	^	23a	·	23b	^	24	^	25a	·	25b	^	26a	·	26b	^	27	^	28a	·	28b	·	28c	^	29
SP1:
SP2:
SP3:			-
SP4:
SP5:			-

About this scheme

ECgene alternative splicing isoforms for MYH11

4 Ensembl transcripts including schematic representations:

ENST00000338282 ENST00000396320 ENST00000300036 ENST00000396324

(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 )
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MYH11 expression in normal and diseased human tissues

Applied Biosystems TaqMan ® Gene Expression Assays for MYH11

¹ / ² / ³

17 probe-sets matching MYH11 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
767_at²^{, 3}	U95-A	1	1.00	1.00	0.98	1.27	AF001548	0.20	1.00	0.72	1
37407_s_at²^{, 3}	U95-A	1	1.00	1.00	0.99	1.31	AF013570	0.80	1.00	0.91	1
774_g_at²^{, 3}	U95-A	1	1.00	1.00	0.98	0.75	D10667	0.80	1.00	0.91	1
773_at²^{, 3}	U95-A	1	1.00	1.00	0.97	0.68	D10667	0.80	1.00	0.91	1
77896_at²^{, 3}	U95-E	2	1.00	0.97	-0.17	0.19	AI811532	0.60	1.00	0.82	1
32582_at²^{, 3}	U95-A	1	0.62	1.00	0.99	1.03	X69292	0.80	1.00	0.91	1
201496_x_at²^{, 3}	U133-A	1	1.00	1.00	--	--	S67238	0.60	1.00	0.82	1
201495_x_at²^{, 3}	U133-A	1	1.00	1.00	--	--	AI889739	0.40	1.00	0.76	1
228133_s_at²^{, 3}	U133-B	1	1.00	1.00	--	--	BF732767	0.20	0.25	0.23	2
201497_x_at²^{, 3}	U133-A	2	1.00	0.95	--	--	NM_022844	0.60	1.00	0.82	1
207961_x_at²^{, 3}	U133-A	1	0.91	1.00	--	--	NM_022870	0.20	1.00	0.72	1
201496_x_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
201495_x_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
1568760_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
228133_s_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
201497_x_at²	U133Plus2	2	1.00	0.95	--	--	--	--	--	--	--
207961_x_at²	U133Plus2	1	0.91	1.00	--	--	--	--	--	--	--

GeneDecks MYH11 for binary patterns associated with the probe-sets selected above

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Data from

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

CGAP SAGE TAG: AATTGAAAAG

SOURCE GeneReport for Unigene cluster: Hs.460109
Expression variation in blood from EXPOLDB for MYH11
UniProtKB/Swiss-Prot: MYH11_HUMAN, P35749
Tissue specificity: Smooth muscle; expressed in the umbilical artery, bladder, esophagus and
trachea

(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)
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Orthologs for MYH11 gene from 5/14 species (see all 14 )

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
dog (Canis familiaris)	MYH11¹	--	myosin, heavy chain 11, smooth muscle	91.5(n) 97.72(a)	479836 XM_857511.1 XP_862604.1
rat (Rattus norvegicus)	Myh11¹	--	myosin, heavy chain 11, smooth muscle	86.49(n) 94.11(a)	24582 XM_573030.2 XP_573030.2
mouse (Mus musculus)	Myh11^{1, 5}	16 (5.00 cM)⁵	myosin, heavy polypeptide 11, smooth muscle^{1, 5}	87.92(n)¹ 96.16(a)¹	17880¹ NM_013607.1¹ NP_038635.1¹ AK008768⁵ AK085742⁵ (see all 16)
chicken (Gallus gallus)	MYH11¹	--	myosin, heavy chain 11, smooth muscle	78.18(n) 89.78(a)	396211 NM_205274.1 NP_990605.1
zebrafish (Danio rerio)	myh11¹	--	myosin, heavy polypeptide 11, smooth muscle	74.54(n) 80.9(a)	554168 NM_001024448.1 NP_001019619.1

About this table Species with no ortholog for MYH11

ENSEMBL Gene Tree for MYH11

(Paralogs according to ¹HomoloGene
and ²Ensembl, Pseudogenes according to ³Pseudogene.org)
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Paralogs for MYH11 gene

MYH9² MYH10²

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

10/1015 NCBI SNPs in MYH11 are shown (see all 1015 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (see all 275)

AB	SNP ID	Valid	Chr 16 pos	Sequence	Recs	AA Chg	Type	More	Recs	Allele freq	Pop	Total sample	More
AB	Genomic Data				Transcription Data				Allele Frequencies
				--	--	--		--	--				--
	rs215569^1,2	A,C,F,H,O	15858711(-)	`AAGACG/CTTCTC`	4	--	ng3¹		6		EA EU WA MN	2086
	rs16967494^1,2	C,F,H	15728364(+)	`GTCTGC/TGTTCT`	4	A/T	mis¹ ese³		13		NA EA EU WA	1114
--	rs2306861^1,2	A,C	15858636(+)	`GGCCCC/GAGGCG`	4	--	ng3¹		0	--	--	--	--
	rs34263860^1,2	C,F	15736920(+)	`CTGAGC/TGATTT`	4	A/T	mis¹		5		NA EU EA WA	490
--	rs12149651^1,2	H	15738943(+)	`CTCCAG/TCTCCT`	4	L/M	mis¹		4		EU EA WA	406
	rs1050111^1,2	C,F,H,O	15824698(-)	`ATCGTC/TGACAT`	4	V/V	syn¹ ese³		16		EA MN NA EU WA	2918
	rs2272554^1,2	A,C,F,H	15757705(-)	`TATGCC/TGGGAA`	4	A/A	syn¹		11		EA NA EU WA	2310
	rs4781689^1,2	A,C,F,H	15772973(+)	`TCCACG/AGTTTC`	4	T/T	syn¹ ese³		13		MN NA EU EA WA	1242
	rs1050113^1,2	C,F,H,O	15746535(-)	`TGCGCC/TGCCTA`	4	A/A	syn¹ ese³		15		EA MN EU WA NA	2980
	rs880071^1,2	A,C,F	15749524(+)	`TTGCCG/AGACTG`	4	S/S	syn¹ ese³		4		NA EA MN	1484

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HapMap Linkage Disequilibrium images for MYH11 (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.)
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OMIM: 160745 disorders: 132900

UniProtKB/Swiss-Prot: MYH11_HUMAN, P35749

A chromosomal aberration involving MYH11 is found in acute myeloid leukemia of M4EO

subtype. Pericentric inversion inv(16)(p13;q22). The inversion produces a fusion protein

consisting of the 165 N-terminal residues of CBF-beta (PEPB2) and the tail region of MYH11

Defects in MYH11 are the cause of aortic aneurysm familial thoracic type 4 (AAT4)

[MIM:132900]; also known as familial thoracic aortic aneurysm and dissection (TAAD). Aneurysms and

dissections of the aorta usually result from degenerative changes in the aortic wall. Thoracic

aortic aneurysms and dissections are primarily associated with a characteristic histologic

appearance known as 'medial necrosis' or 'Erdheim cystic medial necrosis' in which there is

degeneration and fragmentation of elastic fibers, loss of smooth muscle cells, and an accumulation

of basophilic ground substance. Patients with AAT4 show marked aortic stiffness. Pathological

aortas show large areas of medial degeneration with very low smooth muscle cells content

10/24 Novoseek disease relationships for MYH11 gene (see all 24 )

Disease	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
dissection aortic acute	53.41	3	11015167 (2), 19124441 (1)
aortic dissection	53.38	11	8653847 (3), 9324878 (2), 11015167 (2), 18413993 (2) (see all 6)
aortic aneurysm thoracic	52.70	1	17956658 (1)
papilloma intraductal	51.22	2	16861972 (1), 15762278 (1)
carcinoma ductal	49.56	1	15762278 (1)
eosinophilia	48.16	4	17452259 (1), 9713991 (1), 8779782 (1)
carcinoma adenoid cystic	45.29	15	18084258 (3), 16810311 (2)
adenoma pleomorphic	32.05	3	9388059 (1), 10458827 (1)
leukemia	28.22	1	15754009 (1)
atherosclerosis	18.53	2	7916668 (1), 10906735 (1)

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GeneTests: MYH11

Thoracic Aortic Aneurysms and Aortic Dissections

Human Gene Mutation Database: MYH11
Genetic Association Database: MYH11
Human Genome Epidemiology Navigator: MYH11 (3 documents)

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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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10/185 PubMed articles for MYH11 gene (see all 185 ):

Human smooth muscle myosin heavy chain gene mapped to chromosomal region 16q12. (PubMed id 7684189)^{1, 2, 3, 4} Matsuoka R.... Takao A. (1993)
Mutations in myosin heavy chain 11 cause a syndrome associating thoracic aortic aneurysm/aortic dissection and patent ductus arteriosus. (PubMed id 16444274)^{1, 3, 4} Zhu L.... Jeunemaitre X. (2006)
Proteomic and bioinformatic characterization of the biogenesis and function of melanosomes. (PubMed id 17081065)^{3, 4} Chi A....Hunt D.F. (2006)
[Role of molecular screening for common fusion genes in the diagnosis and classification of leukemia] (PubMed id 15968309)^{3, 6} Zhu Y.L....Liu J. (2005)
Genome duplications and other features in 12 Mb of DNA sequence from human chromosome 16p and 16q. (PubMed id 10493829)^{3, 4} Loftus B.J....Adams M.D. (1999)
Prediction of the coding sequences of unidentified human genes. XII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10048485)^{3, 4} Nagase T....Ohara O. (1998)
Somatic mutation analysis of MYH11 in breast and prostate cancer. (PubMed id 18796164)^{1, 3} Alhopuro P....Aaltonen L.A. (2008)
Myosin heavy chain gene expression in normal and hyperplastic human prostate tissue. (PubMed id 10906735)^{1, 3} Lin V.K....McConnell J.D. (2000)
Investigation of the MYH11 gene in sporadic patients with an isolated persistently patent arterial duct. (PubMed id 17956658)^{1, 3} Zhu L....Jeunemaitre X. (2007)
Smooth muscle myosin heavy chain isoforms and their role in muscle physiology. (PubMed id 10998642)^{1, 3} Babu G.J....Periasamy M. (2000)

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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
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Entrez Gene: 4629	HGNC: 7569	AceView: MYH11.1	Ensembl:ENSG00000133392	euGenes: HUgn4629
ECgene: MYH11	H-InvDB: MYH11

(According to HUGE)
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HUGE: KIAA0866

(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 MYH11	Genetics and Cytogenetics in Oncology and Haematology
GeneReviews	http://www.genetests.org/query?gene=MYH11

Licensable Technologies for MYH11
(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 MYH11:

TaqMan ® Gene Expression Assays

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MYH11 Gene

protein-coding GIFtS: 71

Aliases &
Descriptions
for MYH11

Summaries
for MYH11

Genomic Location
for MYH11

Proteins
for MYH11

Protein Domains/
Families
for MYH11

Gene Function
for MYH11

Pathways & Interactions
for MYH11

Drugs & Compounds
for MYH11

Transcripts
for MYH11

Expression
for MYH11

Orthologs
for MYH11

Paralogs
for MYH11

SNPs/Variants
for MYH11

Disorders & Mutations
for MYH11

Medical News
for MYH11

Publications
for MYH11

Search for MYH11

Genome Databases showing MYH11

Other Databases showing MYH11

Specialized Databases showing MYH11

Licensable Technologies
for MYH11

Services
for MYH11

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

MYH11 Gene

protein-coding GIFtS: 71

Aliases & Descriptionsfor MYH11

Summariesfor MYH11

Genomic Locationfor MYH11

Proteinsfor MYH11

Protein Domains/Familiesfor MYH11

Gene Functionfor MYH11

Pathways & Interactionsfor MYH11

Drugs & Compoundsfor MYH11

Transcriptsfor MYH11

Expression for MYH11

Orthologsfor MYH11

Paralogsfor MYH11

SNPs/Variantsfor MYH11

Disorders & Mutationsfor MYH11

Medical Newsfor MYH11

Publicationsfor MYH11

Search for MYH11

Genome Databases showing MYH11

Other Databases showing MYH11

Specialized Databases showing MYH11

Licensable Technologiesfor MYH11

Servicesfor MYH11

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 MYH11

Summaries
for MYH11

Genomic Location
for MYH11

Proteins
for MYH11

Protein Domains/
Families
for MYH11

Gene Function
for MYH11

Pathways & Interactions
for MYH11

Drugs & Compounds
for MYH11

Transcripts
for MYH11

Expression
for MYH11

Orthologs
for MYH11

Paralogs
for MYH11

SNPs/Variants
for MYH11

Disorders & Mutations
for MYH11

Medical News
for MYH11

Publications
for MYH11

Licensable Technologies
for MYH11

Services
for MYH11