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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

MYH2 Gene

protein-coding GIFtS: 65
GCID: GC17M010347

myosin, heavy chain 2, skeletal muscle, adult

(Previous names: myosin, heavy polypeptide 2, skeletal muscle, adult )

Explore 10 diseases affiliated with
MYH2 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 2, Skeletal Muscle, Adult¹ ²		Myosin Heavy Chain IIa² ³
MYHSA2¹ ² ³		Myosin Heavy Chain, Skeletal Muscle, Adult 2² ³
MyHC-IIa¹ ² ³		Fast 2a Myosin Heavy Chain²
MYH2A¹ ²		Myosin-2¹
MYHas8¹ ²		Type IIA Myosin Heavy Chain²
MyHC-2A¹ ²		MyHC-2a³
Myosin, Heavy Polypeptide 2, Skeletal Muscle, Adult¹ ²		EC 2.3.2⁸
Myosin Heavy Chain 2² ³		EC 4.2.1.33⁸
Myosin Heavy Chain 2a² ³

External Ids:	HGNC: 7572¹	Entrez Gene: 4620²	Ensembl: ENSG00000125414⁷	OMIM: 160740⁵	UniProtKB: Q9UKX2³

Export aliases for MYH2 gene to outside databases

Previous GC identifers: GC17M010762 GC17M011539 GC17M010367 GC17M010625 GC17M010365 GC17M010368

(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 MYH2:

Myosins are actin-based motor proteins that function in the generation of mechanical force in eukaryotic cells. Muscle

myosins are heterohexamers composed of 2 myosin heavy chains and 2 pairs of nonidentical myosin light chains. This

gene encodes a member of the class II or conventional myosin heavy chains, and functions in skeletal muscle

contraction. This gene is found in a cluster of myosin heavy chain genes on chromosome 17. A mutation in this gene

results in inclusion body myopathy-3. Multiple alternatively spliced variants, encoding the same protein, have been

identified. (provided by RefSeq, Sep 2009)

UniProtKB/Swiss-Prot: MYH2_HUMAN, Q9UKX2

Function: Muscle contraction. Required for cytoskeleton organization (By similarity)

summary for MYH2:

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 MYH2

(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_000017.10 NC_018928.1 NT_010718.16

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the MYH2 gene promoter:
GATA-3 STAT2 c-Myb GATA-1 GATA-2
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: MYH2 promoter sequence

Search SABiosciences Chromatin IP Primers for MYH2

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MYH2

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

Entrez Gene cytogenetic band: 17p13.1 Ensembl cytogenetic band: 17p13.1 HGNC cytogenetic band: 17p13.1

MYH2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MYH2 gene location

GeneLoc information about chromosome 17 GeneLoc Exon Structure

GeneLoc location for GC17M010347: view genomic region (about GC identifiers)

Start:	10,368,772 bp from pter	End:	10,453,274 bp from pter
Size:	84,503 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: MYH2_HUMAN, Q9UKX2 (See protein sequence)

Recommended Name: Myosin-2

Size: 1941 amino acids; 223044 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). Interacts with GCSAM

Subcellular location: Cytoplasm, myofibril. Note=Thick filaments of the myofibrils

Caution: Represents a conventional myosin. This protein should not be confused with the unconventional myosin-2 (MYO2)

Secondary accessions: A0AVL4 Q14322 Q16229 Q86T56

Explore the universe of human proteins at neXtProt for MYH2: NX_Q9UKX2

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q9UKX2

2 DME Specific Peptides for MYH2 (Q9UKX2)

QAEAEGL

LTKAKIK

MYH2 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (2 alternative transcripts):

NP_001093582.1 NP_060004.3

ENSEMBL proteins:

ENSP00000431873 ENSP00000433944 ENSP00000245503 ENSP00000463668 ENSP00000399348

ENSP00000416072 ENSP00000380367

Reactome Protein details: Q9UKX2
Human Recombinant Protein Products:

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	Uscn Proteins for MYH2

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005634	nucleus	IDA	--
GO:0005730	nucleolus	IDA	--
GO:0005794	Golgi apparatus	IEA	--
GO:0005826	actomyosin contractile ring	IEA	--
GO:0005859	muscle myosin complex	TAS	10388558

MYH2 for ontologies About GeneDecksing

MYH2 Antibody Products:

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	Novus Biologicals MYH2 Antibodies
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	Uscn Antibodies for MYH2
	Search ThermoFisher Antibodies for MYH2

Assay Products for MYH2:

	Browse Kits and Assays available from EMD Millipore
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	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for MYH2

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

MYH2 for domains About GeneDecksing

5 InterPro domains/families:

IPR004009 Myosin_N

IPR000048 IQ_motif_EF-hand-BS

IPR002928 Myosin_tail

IPR015650 Myosin_1/23/4/7/8/13/15

IPR001609 Myosin_head_motor_dom

Graphical View of Domain Structure for InterPro Entry Q9UKX2

ProtoNet protein and cluster: Q9UKX2

3 Blocks protein families:

IPB000048 IQ calmodulin-binding region

IPB002928 Myosin tail

IPB004009 Myosin N-terminal SH3-like domain

UniProtKB/Swiss-Prot: MYH2_HUMAN, Q9UKX2

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

Domain: 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)

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: MYH2_HUMAN, Q9UKX2

Function: Muscle contraction. Required for cytoskeleton organization (By similarity)

Genatlas biochemistry entry for MYH2:

myosin,motor contractile protein moving towards the "plus" end of actin track,heavy polypeptide 2,skeletal muscle,adult

Enzyme Numbers (IUBMB): EC 2.3.2² EC 4.2.1.33²

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Gene Editing
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MYH2

Gene Ontology (GO): 5/7 molecular function terms (GO ID links to tree view) (see all 7): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000146	microfilament motor activity	TAS	10388558
GO:0003774	motor activity	--	--
GO:0003779	actin binding	NAS	--
GO:0005515	protein binding	IPI	17823310
GO:0005516	calmodulin binding	NAS	--

MYH2 for ontologies 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 - 5/18 super-pathways (see all 18) 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

Immune System

Immune System

1.00

Innate Immune System

0.46

Pathway sources
See GeneCards unified pathways
Show all pathways

5 EMD Millipore Pathways for MYH2

	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 MYH2 (see all 11)

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

5/6 GeneGo (Thomson Reuters) Pathways for MYH2 (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

1 BioSystems Pathway for MYH2

amb2 Integrin signaling

5/8 Reactome Pathways for MYH2 (see all 8)

	Role of myosins in phagosome formation
	Membrane Trafficking
	Translocation of GLUT4 to the Plasma Membrane
	Fcgamma receptor (FCGR) dependent phagocytosis
	Regulation of actin dynamics for phagocytic cup formation

2 Kegg Pathways (Kegg details for MYH2):

	Tight junction
	Viral myocarditis

MYH2 for pathways About GeneDecksing

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for MYH2

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

5/105 Interacting proteins for MYH2 (Q9UKX2^{2, 3} ENSP00000245503⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 105)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
YWHAQ	P27348²^,³, ENSP00000238081⁴	MINT-7899812 I2D: score=1 STRING: ENSP00000238081
S100A4	P26447³, ENSP00000346294⁴	I2D: score=2 STRING: ENSP00000346294
OBSCN	Q5VST9³, ENSP00000409493⁴	I2D: score=1 STRING: ENSP00000409493
PTK2B	Q14289³, ENSP00000332816⁴	I2D: score=1 STRING: ENSP00000332816
MYH13	Q9UKX3², ENSP00000252172⁴	MINT-7899812 STRING: ENSP00000252172

About this table

Gene Ontology (GO): 4 biological process terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001778	plasma membrane repair	IEA	--
GO:0006936	muscle contraction	TAS	10388558
GO:0014823	response to activity	IEA	--
GO:0030049	muscle filament sliding	NAS	3904738

MYH2 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

MYH2 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Compounds for MYH2 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]

2 Novoseek chemical compound relationships for MYH2 gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
actomyosin	70.4	1	15681228 (1)
calcium	0	7	12235157 (5), 12756252 (1)

Search CenterWatch for drugs/clinical trials and news about MYH2

(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 MYH2 gene (2 alternative transcripts):

NM_001100112.1 NM_017534.5

Unigene Cluster for MYH2:

Myosin, heavy chain 2, skeletal muscle, adult

Hs.667534 [show with all ESTs]

Unigene Representative Sequence: NM_017534

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

ENST00000532288 ENST00000532183 ENST00000245503(uc002gmp.4 uc010coj.3)

ENST00000578017 ENST00000420805 ENST00000431502 ENST00000397183(uc010coi.3)

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Additional cDNA sequence:

AF111784.1 AK299440.1 AK300702.1 AK308102.1 BC093082.1 BC126409.1 BX510904.2 S73840.1

Z32858.1

15 DOTS entries:

DT.450952 DT.91651088 DT.87010282 DT.95134925 DT.121011709 DT.95333920 DT.100797147 DT.95319948

DT.95335450 DT.102833389 DT.121011605 DT.121011611 DT.121011677 DT.91645919 DT.92452462

24/360 AceView cDNA sequences (see all 360):

F32013 AA214068 AA192637 F18911 F29771 CF552204 F28725 CF553036

AJ573934 F22765 AA180982 F24623 F36197 F27373 AA192839 F29611

F35608 F25815 AA196858 AF111784 F26883 F27834 BU738138 F18149

GeneLoc Exon Structure

5/13 Alternative Splicing Database (ASD) splice patterns (SP) for MYH2 (see all 13) About this scheme

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

ExUns:	21b	^	22	^	23	^	24a	·	24b	^	25	^	26	^	27	^	28	^	29	^	30	^	31a	·	31b	·	31c	^	32	^	33	^	34	^	35	^	36
SP1:
SP2:
SP3:
SP4:
SP5:

ECgene alternative splicing isoforms for MYH2

(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

MYH2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GAATGACTGA

About this image

MYH2 expression in embryonic tissues and stem cells

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

3 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Skeletal Muscle

Hyoid Arch Muscles

Multinuclear Myocytes

Selective marker (cell-identifying gene)

Skeletal Muscle

Mandibular Arch Muscles

Multinuclear Myocytes

Skeletal Muscle

Adipose

Interscapular Brown Adipose Depot

Adipose

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 1 LifeMap Cell

Name

Category

Skeletal myocytes (Generation of skelet...)

See MYH2 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for MYH2

SOURCE GeneReport for Unigene cluster: Hs.667534

SABiosciences Expression via Pathway-Focused PCR Array including MYH2:

Skeletal Muscle: Myogenesis & Myopathy in human mouse rat

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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MYH2

(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 MYH2 gene from 5/20 species (see all 20) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	MYH3⁶ MYH1⁶ (see all 7)	muscle embryonic myosin heavy chain 3 (see all 7)	92(a) 91(a) (see all 7)	many ↔ many many ↔ many (see all 7)	18(17-7186) 18(384589-401517)
lizard (Anolis carolinensis)	Reptilia	--	--	88(a)	1 → many	2(109026006-109052169)
zebrafish (Danio rerio)	Actinopterygii	CABZ01102039.1⁶	--	42(a)	possible ortholog	12(67545-75100)
fruit fly (Drosophila melanogaster)	Insecta	Mhc³	striated muscle contraction myosin ATPase	51(a) (best of 2)		2 36B1 --
worm (Caenorhabditis elegans)	Secernentea	F58G4.1³	myosin	48(a) (best of 5)		V(8111649-8120439) --

ENSEMBL Gene Tree for MYH2 (if available)
TreeFam Gene Tree for MYH2 (if available)

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

Paralogs for MYH2 gene

MYH8² MYH1² MYH11² MYH14² MYH9² MYH13² MYH10² MYH7B²

MYH4² MYH3² MYH6² MYH15² MYH7²

18/38 SIMAP similar genes for MYH2 using alignment to 5 protein entries: MYH2_HUMAN (see all proteins) (see all similar genes):

MYH8 MYH4 MYH1 MYH13 MYH3 MYH6

MYH7 MYH7B alpha-MHC MYH15 MYH16 MYH11

MYH10 MYH9 MYH14 MYO1C MYO19 MYO5C

MYH2 for paralogs About GeneDecksing

(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 17 pos	Sequence	#	AA Chg	Type	More	#	Pop	Total sample
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs9914003^1,2	C,F,H,	--	10323797(+)	`AAAAGG/ATTCAT`	2	--	ds500¹		10	NS EA NA WA	1208
rs2286357^1,2	C,F,H,	--	10324139(+)	`CCAAAG/TATGTC`	2	--	ut3¹		11	EA NA NS	1426
rs79900109^1,2	F,	--	10324897(+)	`AATTCC/TTTTAA`	2	--	int¹		1	NA	120
rs75618934^1,2	F,	--	10325053(+)	`TTTCTA/GTCTTT`	2	--	int¹		1	WA	118
rs113280351^1,2	C,F	--	10326523(+)	`CGCTCC/AAGGTG`	4	/L	syn¹		3	CSA NA	4554
rs1062504^1,2	F	--	10326720(-)	`GACATT/CCTCCA`	4	/I	syn¹ ese³		1	MN	184
rs1042300^1,2	F	--	10326738(-)	`ATGCAA/GGGAGA`	4	Q	syn¹		1	MN	184
rs1042297^1,2	F	--	10326753(-)	`ACAGAT/CATTTC`	4	/D	syn¹		1	MN	184
rs77361283^1,2	F,	--	10329071(+)	`GTGCAA/GTGAAG`	2	--	int¹		1	WA	118
rs73974757^1,2	C,	--	10329270(+)	`ATGAGG/ACCCCT`	2	--	int¹		2	WA	120

HapMap Linkage Disequilibrium report for MYH2 (10368772 - 10453274 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for MYH2: --
Human Gene Mutation Database (HGMD): MYH2

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing MYH2

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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

MYH2 for disorders           About GeneDecksing

OMIM gene information: 160740
OMIM disorders: 605637
UniProtKB/Swiss-Prot: MYH2_HUMAN, Q9UKX2

Defects in MYH2 are the cause of inclusion body myopathy type 3 (IBM3) [MIM:605637]. Hereditary inclusion body

myopathies constitute a group of neuromuscular disorders characterized by slowly progressive distal and proximal

weakness and a typical muscle pathology including rimmed vacuoles and filamentous inclusions. IBM3 is a variant of

hereditary inclusion body myopathies and is characterized by autosomal dominant myopathy with joint contracture,

ophthalmoplegia and rimmed vacuoles. Morphological analysis of muscle biopsies from patients indicate that the type 2A

fibers frequently were abnormal, whereas other fiber types appeared normal

10 diseases for MYH2: About MalaCards

inclusion body myopathy inclusion body myopathy 3 myopathy muscle hypertrophy

multiple sclerosis hypothyroidism hermaphroditism pharyngitis

carcinoma bone fracture

2 diseases from the University of Copenhagen DISEASES database for MYH2:

Distal arthrogryposis Ophthalmoplegia

3 Novoseek disease relationships for MYH2 gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
inclusion body myopathy	70.6	3	11889243 (1)
myopathy	54.4	7	15741996 (2), 14991352 (1), 11889243 (1)
atrophy	36.6	1	16672834 (1)

Human Genome Epidemiology (HuGE) Navigator: MYH2 (1 document)

Export disorders for MYH2 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 MYH2 gene, integrated from 9 sources (see all 75):
(articles sorted by number of sources associating them with MYH2)

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

Type IIx myosin heavy chain transcripts are expressed in type IIb fibers of human skeletal muscle. (PubMed id 7545970)^{1, 2, 3} Smerdu V....Schiaffino S. (1994)
Mutations and sequence variation in the human myosin heavy chain IIa gene (MYH2). (PubMed id 15741996)^{1, 2, 9} Tajsharghi H.... Oldfors A. (2005)
Autosomal dominant myopathy: missense mutation (Glu-706 --> Lys) in the myosin heavy chain IIa gene. (PubMed id 11114175)^{1, 2, 9} Martinsson T.... Wahlstroem J. (2000)
Comparative sequence analysis of the complete human sarcomeric myosin heavy chain family: implications for functional diversity. (PubMed id 10388558)^{1, 2, 9} Weiss A.... Leinwand L.A. (1999)
HGAL, a lymphoma prognostic biomarker, interacts with the cytoskeleton and mediates the effects of IL-6 on cell migration. (PubMed id 17823310)^{1, 2} Lu X....Lossos I.S. (2007)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
Characterization of human skeletal muscle fibres according to the myosin heavy chains they express. (PubMed id 7751403)^{1, 2} Ennion S.... Goldspink G. (1995)
Myosin heavy chain IIa gene mutation E706K is pathogenic and its expression increases with age. (PubMed id 11889243)^{1, 9} Tajsharghi H....Oldfors A. (2002)
Human disease caused by loss of fast IIa myosin heavy chain due to recessive MYH2 mutations. (PubMed id 20418530)^{1, 9} Tajsharghi H....Udd B. (2010)
Intracellular calcium and myosin isoform transitions. Calcineurin and calcium-calmodulin kinase pathways regulate preferential activation of the IIa myosin heavy chain promoter. (PubMed id 12235157)^{1, 9} Allen D.L. and Leinwand L.A. (2002)

(in PubMed, OMIM, and NCBI Bookshelf)
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		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: 4620	HGNC: 7572	AceView: MYH1andMYH4andMYH2	Ensembl:ENSG00000125414	euGenes: HUgn4620
ECgene: MYH2	Kegg: 4620	H-InvDB: MYH2

(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 MYH2	Pharmacogenomics, SNPs, Pathways

Intellectual Property for MYH2 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for MYH2 gene:
Search GeneIP for patents involving MYH2

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

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myosin, heavy chain 2, skeletal muscle, adult

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MYH2 Gene

myosin, heavy chain 2, skeletal muscle, adult

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