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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

MYH3 Gene

protein-coding GIFtS: 63
GCID: GC17M010472

myosin, heavy chain 3, skeletal muscle, embryonic

(Previous names: myosin, heavy polypeptide 3, skeletal muscle, embryonic...)

Explore 23 diseases affiliated with
MYH3 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 3, Skeletal Muscle, Embryonic¹ ²		Myosin Heavy Chain, Fast Skeletal Muscle, Embryonic² ³
SMHCE¹ ² ³		Myosin, Skeletal, Heavy Chain, Embryonic 1²
HEMHC¹ ²		Myosin-3¹
MYHC-EMB¹ ²		Muscle Embryonic Myosin Heavy Chain³
MYHSE1¹ ²		Myosin Heavy Chain 3³
Myosin, Heavy Polypeptide 3, Skeletal Muscle, Embryonic¹ ²

External Ids:	HGNC: 7573¹	Entrez Gene: 4621²	Ensembl: ENSG00000109063⁷	OMIM: 160720⁵	UniProtKB: P11055³

Export aliases for MYH3 gene to outside databases

Previous GC identifers: GC17M010897 GC17M011646 GC17M010474 GC17M010732

(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 MYH3:

Myosin is a major contractile protein which converts chemical energy into mechanical energy through the hydrolysis of

ATP. Myosin is a hexameric protein composed of a pair of myosin heavy chains (MYH) and two pairs of nonidentical light

chains. This gene is a member of the MYH family and encodes a protein with an IQ domain and a myosin head-like domain.

Mutations in this gene have been associated with two congenital contracture (arthrogryposis) syndromes,

Freeman-Sheldon syndrome and Sheldon-Hall syndrome. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: MYH3_HUMAN, P11055

Function: Muscle contraction

summary for MYH3:

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 MYH3

(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 MYH3 gene promoter:
AP-2rep C/EBPbeta AML1a Pax-2 MyoD Pax-2a Ik-3 RORalpha2 Pax-3 c-Myb
Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): MYH3 promoter sequence

Search SABiosciences Chromatin IP Primers for MYH3

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MYH3

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: 17pter-p11

MYH3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MYH3 gene location

GeneLoc information about chromosome 17 GeneLoc Exon Structure

GeneLoc location for GC17M010472: view genomic region (about GC identifiers)

Start:	10,531,843 bp from pter	End:	10,560,626 bp from pter
Size:	28,784 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: MYH3_HUMAN, P11055 (See protein sequence)

Recommended Name: Myosin-3

Size: 1940 amino acids; 223905 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: Cytoplasm, myofibril. Note=Thick filaments of the myofibrils

Developmental stage: Abundantly present in fetal skeletal muscle and not present or barely detectable in heart and

adult skeletal muscle

Caution: Represents a conventional myosin. This protein should not be confused with the unconventional myosin-3 (MYO3)

Secondary accessions: Q15492

Explore the universe of human proteins at neXtProt for MYH3: NX_P11055

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P11055

MYH3 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_002461.2

ENSEMBL proteins:

ENSP00000464317 ENSP00000226209

Reactome Protein details: P11055
Human Recombinant Protein Products for MYH3:

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	Novus Biologicals MYH3 Protein Novus Biologicals MYH3 Lysate
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for MYH3

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005829	cytosol	TAS	--
GO:0016459	myosin complex	--	--
GO:0030016	myofibril	IEA	--
GO:0032982	myosin filament	IEA	--
GO:0043292	contractile fiber	--	--

MYH3 for ontologies About GeneDecksing

MYH3 Antibody Products:

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Assay Products for MYH3:

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	GenScript Custom Assay Services for MYH3
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for MYH3

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

MYH3 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 P11055

ProtoNet protein and cluster: P11055

3 Blocks protein families:

IPB000048 IQ calmodulin-binding region

IPB002928 Myosin tail

IPB004009 Myosin N-terminal SH3-like domain

UniProtKB/Swiss-Prot: MYH3_HUMAN, P11055

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, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: MYH3_HUMAN, P11055

Function: Muscle contraction

Genatlas biochemistry entry for MYH3:

myosin,motor contractile protein moving towards the "plus" end of actin track,heavy polypeptide 3,200kDa,skeletal

muscle,embryonic

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000146	microfilament motor activity	NAS	1691980
GO:0003779	actin binding	IEA	--
GO:0005516	calmodulin binding	IEA	--
GO:0005524	ATP binding	IEA	--

MYH3 for ontologies About GeneDecksing

Phenotypes:
2 GenomeRNAi human phenotypes for MYH3:

High actin ratio cells

Increased cell number in G2M,

Animal Models:

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for MYH3

miRNA Products:		OriGene 3'-UTR Clone: MYH3 Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat MYH3
		1 QIAGEN miScript miRNA Assays for microRNA that regulate MYH3:
		hsa-miR-448
		Browse SwitchGear 3'UTR luciferase reporter plasmids

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 MYH3 (see all 7) OriGene shRNA RFP: MYH3 OriGene siRNA: MYH3
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat MYH3
		Sirion Biotech Custom design and validation of potent shRNA sequences against MYH3

Gene Editing Products:			DNA2.0 Custom Protein Engineering Service for MYH3
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Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for MYH3 (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for MYH3 OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: MYH3 (NM_002470)
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		Sirion Biotech Customized stable knockdown cell line services for MYH3 Sirion Biotech Customized inducible knockdown cell line services for MYH3

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MYH3

(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 - 5/14 super-pathways (see all 14) 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

PAK Pathway

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

Striated Muscle Contraction

	Striated Muscle Contraction	1.00			Muscle contraction	0.65
	Striated Muscle Contraction	0.87

Cell adhesion Tight junctions

Cell adhesion Tight junctions

1.00

Cell adhesion_Tight junctions

0.99

Pathway sources
See GeneCards unified pathways
Show all pathways

5 EMD Millipore Pathways for MYH3

	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 MYH3 (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 MYH3 (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 MYH3

Striated Muscle Contraction

2 Reactome Pathways for MYH3

	Muscle contraction
	Striated Muscle Contraction

2 Kegg Pathways (Kegg details for MYH3):

	Tight junction
	Viral myocarditis

MYH3 for pathways About GeneDecksing

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for MYH3

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

5/105 Interacting proteins for MYH3 (P11055^{2, 3} ENSP00000226209⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 105)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
DES	P17661², ENSP00000363071⁴	MINT-7899812 STRING: ENSP00000363071
MYL3	P08590², ENSP00000292327⁴	MINT-7899812 STRING: ENSP00000292327
TPM1	P09493², ENSP00000267996⁴	MINT-7899812 STRING: ENSP00000267996
ACTG1	P63261², ENSP00000331514⁴	MINT-7899812 STRING: ENSP00000331514
MYH13	Q9UKX3², ENSP00000252172⁴	MINT-7899812 STRING: ENSP00000252172

About this table

Gene Ontology (GO): 3 biological process terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0007517	muscle organ development	TAS	2771643
GO:0030048	actin filament-based movement	NAS	1691980
GO:0030049	muscle filament sliding	TAS	--

MYH3 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

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Compounds for MYH3 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]

Search CenterWatch for drugs/clinical trials and news about MYH3

(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, Sirion Biotech, 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 MYH3 gene:

NM_002470.3

Unigene Cluster for MYH3:

Myosin, heavy chain 3, skeletal muscle, embryonic

Hs.440895 [show with all ESTs]

Unigene Representative Sequence: NM_002470

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

ENST00000583535(uc002gmq.2) ENST00000577963 ENST00000579928 ENST00000579489

ENST00000582580 ENST00000226209

miRNA Products:		OriGene 3'-UTR Clone: MYH3 Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat MYH3
		1 QIAGEN miScript miRNA Assays for microRNA that regulate MYH3:
		hsa-miR-448
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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 MYH3 (see all 7) OriGene shRNA RFP: MYH3 OriGene siRNA: MYH3
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat MYH3
		Sirion Biotech Custom design and validation of potent shRNA sequences against MYH3

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		GenScript: all cDNA clones in your preferred vector: MYH3 (NM_002470)
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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MYH3

Additional cDNA sequence:

AY517555.1 X13100.1 X13988.1 X15696.1 X51593.1

12 DOTS entries:

DT.86821382 DT.455514 DT.95267116 DT.121011697 DT.40233316 DT.100020750 DT.100739548 DT.121011604

DT.92002345 DT.121011618 DT.95333920 DT.99935319

24/68 AceView cDNA sequences (see all 68):

BM666179 BQ956249 AA010874 AA773676 BM889521 BM874465 AA332915 CD614922

AA332780 X13988 CD614924 AI204351 AA953585 X13100 AI150200 AI002500

BX490094 AA954139 BX500019 X51593 AI243553 AI266195 AA778044 X15696

GeneLoc Exon Structure

(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

MYH3 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CAATAAACTT

About this image

MYH3 expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

9 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

Myocardium

Myocardium

Mesenchymal Condensate Cells

Bone, Cartilage

Bone

Limb

Limb

Limb

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 2 LifeMap Cells

Name

Category

Late limb mesenchymal cells (LLM cells) (Primary Cell)

Bone, Cartilage, Limb

PureStem™ progenitor SK17 (Embryonic Progenitor Cell)

See MYH3 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for MYH3

SOURCE GeneReport for Unigene cluster: Hs.440895

SABiosciences Custom PCR Arrays for MYH3

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for MYH3 Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat MYH3
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat MYH3
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MYH3

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MYH3

(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 MYH3 gene from 4/18 species (see all 18) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
tropical clawed frog (Xenopus tropicalis)	Amphibia	Str.12038²	Transcribed sequence with moderate similarity to protein more	80.28(n)		BX702799.1
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	49(a) (best of 7)		V(8111649-8120439) --

ENSEMBL Gene Tree for MYH3 (if available)
TreeFam Gene Tree for MYH3 (if available)

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

Paralogs for MYH3 gene

MYH8² MYH1² MYH2² MYH11² MYH14² MYH9² MYH13² MYH10²

MYH7B² MYH4² MYH15² MYH6² MYH7²

18/27 SIMAP similar genes for MYH3 using alignment to 1 protein entry: MYH3_HUMAN(see all similar genes):

MYH4 MYH8 MYH13 MYH2 MYH7 MYH6

MYH1 alpha-MHC MYH15 MYH7B MYH16 MYH9

MYO10 MYH11 MYH10 MYO5B MYO5C FLJ00279

MYH3 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	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs121913621^1,2	C	pathogenic	10549042(-)	`AGGCCA/C/GAGCCG`	3	K Q E	mis¹		1		NA	4552
rs148637119^1,2	C,F	unknown	10558264(+)	`CACCAC/TGAAGC`	2	M V	mis¹		1		NA	4550
rs148548971^1,2		--	10531411(+)	`CTTTTC/TTATTC`	1	--	ds500¹		0	--	--	--	--
rs73281069^1,2	C	--	10531421(+)	`CATTTA/GTGTAT`	1	--	ds500¹		3		WA NA	240
rs58184938^1,2	C	--	10531498(+)	`CCCCAC/GTAGAA`	1	--	ds500¹		2		WA	120
rs189232671^1,2		--	10531538(+)	`TTATAA/CCCTTA`	1	--	ds500¹		0	--	--	--	--
rs181926487^1,2		--	10531627(+)	`AAGCTC/TTCCCT`	1	--	ds500¹		0	--	--	--	--
rs142930826^1,2		--	10531651(+)	`AAAGCA/GAAGGT`	1	--	ds500¹		0	--	--	--	--
rs61522115^1,2	C,F	--	10531772(+)	`ACCTCC/TGAGCA`	1	--	ds500¹		3		WA CSA	122
rs185851802^1,2		--	10531831(+)	`AAATAC/TAGCAA`	1	--	ds500¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for MYH3 (10531843 - 10560626 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for MYH3: --
Human Gene Mutation Database (HGMD): MYH3

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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

MYH3 for disorders           About GeneDecksing

OMIM gene information: 160720
OMIM disorders: 193700  601680
UniProtKB/Swiss-Prot: MYH3_HUMAN, P11055

Defects in MYH3 are the cause of distal arthrogryposis type 2A (DA2A) [MIM:193700]; also known as

Freeman-Sheldon syndrome (FSS). Distal arthrogryposis is a clinically and genetically heterogeneous group of disorders

characterized by bone anomalies and joint contractures of the hands and feet, causing medially overlapping fingers,

clenched fists, ulnar deviation of fingers, camptodactyly and positional foot deformities. It is a disorder of primary

limb malformation without primary neurologic or muscle disease. DA2A is the most severe form of distal arthrogryposis.

Affected individuals have contractures of the orofacial muscles, characterized by microstomia with pouting lips,

H-shaped dimpling of the chin, deep nasolabial folds, and blepharophimosis. Dysphagia, failure to thrive, growth

deficit, and life-threatening respiratory complications (caused by structural anomalies of the oropharynx and upper

airways) are frequent. Inheritance is autosomal dominant

Defects in MYH3 are the cause of distal arthrogryposis type 2B (DA2B) [MIM:601680]; also known as Sheldon-Hall

syndrome (SHS) or arthrogryposis multiplex congenita distal type 2B (AMCD2B). DA2B is a form of inherited multiple

congenital contractures. Affected individuals have vertical talus, ulnar deviation in the hands, severe camptodactyly,

and a distinctive face characterized by a triangular shape, prominent nasolabial folds, small mouth and a prominent

chin. DA2B is the most common of the distal arthrogryposis syndromes. It is similar to DA2A but the facial

contractures are less dramatic

20/23 diseases for MYH3 (see all 23): About MalaCards

freeman sheldon syndrome arthrogryposis multiplex congenita distal arthrogryposis multiplex congenita, distal type 2 arthrogryposis

congenital contractures arthrogryposis distal type 2b vertical talus distal muscular dystrophy

distal arthrogryposis muscular dystrophy pleomorphic rhabdomyosarcoma esophageal squamous cell carcinoma

squamous cell carcinoma dysphagia blepharophimosis ophthalmoplegia

clubfoot rhabdomyosarcoma hermaphroditism esophagitis

4 diseases from the University of Copenhagen DISEASES database for MYH3:

Distal arthrogryposis Clubfoot Distal muscular dystrophy Ophthalmoplegia

1 Novoseek disease relationship for MYH3 gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
prolapse	42.7	2	16579921 (1), 12861146 (1)

Human Genome Epidemiology (HuGE) Navigator: MYH3 (6 documents)

Export disorders for MYH3 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 MYH3 gene, integrated from 9 sources (see all 35):
(articles sorted by number of sources associating them with MYH3)

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

Nucleotide sequence of full length human embryonic myosin heavy chain cDNA. (PubMed id 2726495)^{1, 2, 3} Eller M.S.... Sarkar S. (1989)
Mutations in embryonic myosin heavy chain (MYH3) cause Freeman- Sheldon syndrome and Sheldon-Hall syndrome. (PubMed id 16642020)^{1, 2} Toydemir R.M....Bamshad M.J. (2006)
Identification of three developmentally controlled isoforms of human myosin heavy chains. (PubMed id 1691980)^{1, 2} Bober E....Arnold H.H. (1990)
Expression and DNA sequence analysis of a human embryonic skeletal muscle myosin heavy chain gene. (PubMed id 2771643)^{1, 2} Karsch-Mizrachi I.... Leinwand L.A. (1989)
Human embryonic myosin heavy chain cDNA. Interspecies sequence conservation of the myosin rod, chromosomal locus and isoform specific transcription of the gene. (PubMed id 2806546)^{1, 2} Eller M.S.... Sarkar S. (1989)
Skeletal muscle heavy-chain polypeptide 3 and myosin binding protein H in the pubococcygeus muscle in patients with and without pelvic organ prolapse. (PubMed id 16579921)^{1, 9} Hundley A.F....Visco A.G. (2006)
Distal arthrogryposis: clinical and genetic findings. (PubMed id 22519952)¹ Kimber E....Tulinius M. (2012)
Exome sequencing identifies an MYH3 mutation in a fam ily with distal arthrogryposis type 1. (PubMed id 21531865)¹ Alvarado D.M....Dobbs M.B. (2011)
Knockdown of embryonic myosin heavy chain reveals an essential role in the morphology and function of the developing heart. (PubMed id 21862559)¹ Rutland C.S....Loughna S. (2011)
Evaluation of embryonic and perinatal myosin gene mut ations and the etiology of congenital idiopathic clubfoot. (PubMed id 20357587)¹ Shyy W....Morcuende J.A. (2010)

(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: 4621	HGNC: 7573	AceView: MYH3	Ensembl:ENSG00000109063	euGenes: HUgn4621
ECgene: MYH3	Kegg: 4621	H-InvDB: MYH3

(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 MYH3	Pharmacogenomics, SNPs, Pathways
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/MYH3

Intellectual Property for MYH3 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 MYH3 gene:
Search GeneIP for patents involving MYH3

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

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myosin, heavy chain 3, skeletal muscle, embryonic

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