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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

MYH6 Gene

protein-coding GIFtS: 63
GCID: GC14M023851

myosin, heavy chain 6, cardiac muscle, alpha

(Previous names: myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy,...)

Explore 37 diseases affiliated with
MYH6 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 6, Cardiac Muscle, Alpha¹ ²		CMH14² ⁵
MYHCA² ³ ⁵		MYHC²
Myosin, Heavy Polypeptide 6, Cardiac Muscle, Alpha (Cardiomyopathy, Hypertrophic 1)¹ ²		SSS3²
Myosin Heavy Chain 6² ³		Alpha-MHC¹
Myosin Heavy Chain, Cardiac Muscle Alpha Isoform² ³		MyHC-Alpha¹
ASD3² ⁵		Myosin-6¹
CMD1EE² ⁵		MyHC-Alpha¹

External Ids:	HGNC: 7576¹	Entrez Gene: 4624²	Ensembl: ENSG00000197616⁷	OMIM: 160710⁵	UniProtKB: P13533³

Export aliases for MYH6 gene to outside databases

Previous GC identifers: GC14M021223 GC14M017638 GC14M021841 GC14M022921 GC14M003967

(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 MYH6:

Cardiac muscle myosin is a hexamer consisting of two heavy chain subunits, two light chain subunits, and two regulatory

subunits. This gene encodes the alpha heavy chain subunit of cardiac myosin. The gene is located ~4kb downstream of

the gene encoding the beta heavy chain subunit of cardiac myosin. Mutations in this gene cause familial hypertrophic

cardiomyopathy and atrial septal defect 3. (provided by RefSeq, Mar 2010)

UniProtKB/Swiss-Prot: MYH6_HUMAN, P13533

Function: Muscle contraction

summary for MYH6:

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 MYH6

(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_000014.8 NC_018925.1 NT_026437.12

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the MYH6 gene promoter:
MEF-2 HNF-4alpha2 c-Ets-1 HNF-4alpha1 YY1 MEF-2A PPAR-alpha aMEF-2
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: MYH6 promoter sequence

Search SABiosciences Chromatin IP Primers for MYH6

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MYH6

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

Entrez Gene cytogenetic band: 14q12 Ensembl cytogenetic band: 14q11.2 HGNC cytogenetic band: 14q11.2-q13

MYH6 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MYH6 gene location

GeneLoc information about chromosome 14 GeneLoc Exon Structure

GeneLoc location for GC14M023851: view genomic region (about GC identifiers)

Start:	23,851,199 bp from pter	End:	23,877,486 bp from pter
Size:	26,288 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: MYH6_HUMAN, P13533 (See protein sequence)

Recommended Name: Myosin-6

Size: 1939 amino acids; 223735 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

Miscellaneous: The cardiac alpha isoform is a 'fast' ATPase myosin, while the beta isoform is a 'slow' ATPase

Caution: Represents a conventional myosin. This protein should not be confused with the unconventional myosin-6 (MYO6)

Sequence caution: Sequence=CAA29120.1; Type=Erroneous gene model prediction;

Secondary accessions: A2RTX1 Q13943 Q14906 Q14907

Explore the universe of human proteins at neXtProt for MYH6: NX_P13533

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P13533

MYH6 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_002462.2

ENSEMBL proteins:

ENSP00000348634 ENSP00000386041

Reactome Protein details: P13533
Human Recombinant Protein Products for MYH6:

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	Uscn Proteins for MYH6

Gene Ontology (GO): 5/14 cellular component terms (GO ID links to tree view) (see all 14): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001725	stress fiber	IEA	--
GO:0005634	nucleus	IDA	--
GO:0005730	NOT nucleolus	IDA	--
GO:0005737	cytoplasm	IDA	--
GO:0005829	cytosol	TAS	--

MYH6 for ontologies About GeneDecksing

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Assay Products for MYH6:

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	Uscn ELISAs and CLIAs for MYH6

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

MYH6 for domains About GeneDecksing

4 InterPro domains/families:

IPR004009 Myosin_N

IPR000048 IQ_motif_EF-hand-BS

IPR002928 Myosin_tail

IPR001609 Myosin_head_motor_dom

Graphical View of Domain Structure for InterPro Entry P13533

ProtoNet protein and cluster: P13533

3 Blocks protein families:

IPB000048 IQ calmodulin-binding region

IPB002928 Myosin tail

IPB004009 Myosin N-terminal SH3-like domain

UniProtKB/Swiss-Prot: MYH6_HUMAN, P13533

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: MYH6_HUMAN, P13533

Function: Muscle contraction

Genatlas biochemistry entry for MYH6:

myosin,motor contractile protein moving towards the "plus" end of actin track,heavy polypeptide 6,cardiac muscle,alpha

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000146	microfilament motor activity	ISS	--
GO:0003779	actin binding	IEA	--
GO:0005515	protein binding	--	--
GO:0005516	calmodulin binding	IEA	--
GO:0005524	ATP binding	IEA	--

MYH6 for ontologies About GeneDecksing

Phenotypes:
1 GenomeRNAi human phenotype for MYH6:

Big cells

5 MGI mutant phenotypes (inferred from 6 alleles) (MGI details for Myh6):

behavior/neurological

cardiovascular system

homeostasis/metabolism

mortality/aging

muscle

MYH6 for phenotypes About GeneDecksing

Animal Models:
Mouse knock-out Myh6^tm1Rbns for MYH6

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for MYH6

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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MYH6

(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 - 5/16 super-pathways (see all 16) 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 MYH6

	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 MYH6 (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 MYH6 (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 MYH6

Striated Muscle Contraction

2 Reactome Pathways for MYH6

	Muscle contraction
	Striated Muscle Contraction

5 Kegg Pathways (Kegg details for MYH6):

	Cardiac muscle contraction
	Tight junction
	Hypertrophic cardiomyopathy (HCM)
	Dilated cardiomyopathy
	Viral myocarditis

MYH6 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for MYH6

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

5/44 Interacting proteins for MYH6 (P13533³ ENSP00000348634⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 44)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
UBC	P0CG48³, ENSP00000344818⁴	I2D: score=1 STRING: ENSP00000344818
SMYD2	Q9NRG4³, ENSP00000355924⁴	I2D: score=1 STRING: ENSP00000355924
RAD51	Q06609³	I2D: score=4
NADKD1	Q4G0N4³	I2D: score=2
GIPC1	O14908³	I2D: score=1

About this table

Gene Ontology (GO): 5/21 biological process terms (GO ID links to tree view) (see all 21): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001701	in utero embryonic development	ISS	--
GO:0002026	regulation of the force of heart contraction	ISS	--
GO:0002027	regulation of heart rate	IDA	15621050
GO:0006200	ATP catabolic process	IDA	15621050
GO:0006936	muscle contraction	IDA	15621050

MYH6 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

MYH6 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Compounds for MYH6 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]

10/23 Novoseek chemical compound relationships for MYH6 gene (see all 23) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
etomoxir	65.9	3	10887055 (2), 11866664 (1)
triiodothyronine	38.9	2	15282446 (1), 2296592 (1)
mspi	23.6	1	9747442 (1)
ryanodine	17.8	3	18452785 (3)
chloramphenicol	17.3	1	11859427 (1)
neomycin	16.5	2	13678453 (1), 14578102 (1)
isoproterenol	13.6	1	16501029 (1)
succinate	7.17	1	11029969 (1)
retinoic acid	6.18	2	9220339 (1)
lipid	5.65	1	17213206 (1)

Search CenterWatch for drugs/clinical trials and news about MYH6

(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,
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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 MYH6 gene:

NM_002471.3

Unigene Cluster for MYH6:

Myosin, heavy chain 6, cardiac muscle, alpha

Hs.278432 [show with all ESTs]

Unigene Representative Sequence: NM_002471

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

ENST00000356287 ENST00000557461(uc010akp.2) ENST00000405093(uc001wjv.3)

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Additional cDNA sequence:

AF056928.1 AK309494.1 BC117511.1 BC132667.1 D00943.1 M21664.1 X56181.1

5 DOTS entries:

DT.95255603 DT.100791347 DT.450919 DT.100791343 DT.95255612

24/640 AceView cDNA sequences (see all 640):

AI337542 F28120 F26532 CF553018 F28559 F15893 F32020 AJ711518

F25896 C03525 F18289 AJ712172 AJ712055 F28047 F30794 CF552414

F30311 CF552861 F27021 BQ949986 F27194 F24332 F31668 F29242

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

MYH6 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --

About this image

MYH6 expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

10/12 LifeMap In Vivo Development Anatomical Compartments/Cells (see all 12)

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Heart

Atrioventricular Canal

Atrioventricular Canal Cells

Selective marker (cell-identifying gene)

Myocardium

Myocardium

Myocardium

Myocardium

Myocardium

Primitive Heart Tube Cells

Myocardium

Myocardium

Multinuclear Myocytes

Skeletal Muscle

Mandibular Arch Muscles

Multinuclear Myocytes

Skeletal Muscle

Heart

Atrioventricular Valves

Atrioventricular Valve Cells

Endocardium, Myocardium

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 10 LifeMap Cells

Name

Category

Intermediate limb mesenchymal cells (ILM cells) (Primary Cell)

Bone, Cartilage, Limb

Cardiomyocyte-like cells (Cardiomyocyte genera...)

Cardiac mesoderm embryoid bodies (Cardiomyocyte genera...)

Cardiomyocyte-like progenitor cells (Derivation of cardio...)

DKK1-induced cells (Derivation of cardio...)

Cardiomyocytes-like cells (Promotion of cardiom...)

Early cardiomyocytes (Differentiation of c...)

Floating colonies of cardiomyocytes (Differentiation of c...)

Mesoderm-like cells (Derivation of cardio...)

Beating cell clusters (Spontaneous differen...)

See MYH6 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for MYH6

SOURCE GeneReport for Unigene cluster: Hs.278432

SABiosciences Expression via Pathway-Focused PCR Arrays including MYH6:

Terminal Differentiation Markers in human mouse rat

Embryonic Stem Cells in human mouse rat

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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MYH6

(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 MYH6 gene from 3/17 species (see all 17) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Details
zebrafish (Danio rerio)	Actinopterygii	myh6¹	myosin, heavy polypeptide 6, cardiac muscle, alpha	73.25(n) 83.15(a)	386711 NM_198823.1 NP_942118.1
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 5)	V(8111649-8120439) --

ENSEMBL Gene Tree for MYH6 (if available)
TreeFam Gene Tree for MYH6 (if available)

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

Paralogs for MYH6 gene

MYH8² MYH1² MYH2² MYH11² MYH14² MYH9² MYH13² MYH10²

MYH7B² MYH4² MYH3² MYH15² MYH7²

18/28 SIMAP similar genes for MYH6 using alignment to 3 protein entries: MYH6_HUMAN (see all proteins) (see all similar genes):

alpha-MHC MYH7 MYH13 MYH4 MYH8 MYH1

MYH2 MYH3 MYH15 MYH7B MYH16 MYH9

MYO10 MYH11 MYH10 MYO5B MYO5C MYH14

MYH6 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)
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SNP ID	Valid	Clinical significance	Chr 14 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs143978652^1,2	C,F	pathogenic	3979064(+)	`ATGGGC/ACTCTT`	2	/A /S	mis¹		2		NA EU	5875
rs150081280^1,2	C,F	probable-non-pathogenic	3973509(+)	`AGCTCA/CGACTG`	2	S	syn¹		1		NA	4542
rs193922652^1,2	C	probable-non-pathogenic	3974690(-)	`CCCCC-/CTCCCC`	1	--	int¹		0	--	--	--	--
rs78107039^1,2	C,F	probable-non-pathogenic	3988348(+)	`ACATCG/AGTGGC`	2	/T	syn¹		5		CSA WA NA EU	5685
rs150415679^1,2	C,F	probable-pathogenic	3984514(+)	`AGTGCC/TGGCGT`	2	S G	mis¹		1		NA	4552
rs28730764^1,2	C,F	unknown	3971775(-)	`CACCCA/TCTCTC`	1	--	int¹		3		WA EU	1351
rs28730765^1,2	C,F	unknown	3971929(-)	`GGGGCG/AGGAGG`	1	--	int¹		2		NA EU	1431
rs193922653^1,2	C	unknown	3972262(-)	`GCCCCA/CCCCCT`	1	--	int¹		0	--	--	--	--
rs433673^1,2	C,F,H	--	3967320(-)	`CGAGAT/CAGAAT`	1	--	ds500¹		21		NS EA NA	2618
rs112981351^1,2		--	3967474(+)	`CCTCGG/TTCTCC`	1	--	ds500¹		1		CSA	2

HapMap Linkage Disequilibrium report for MYH6 (23851199 - 23877486 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for MYH6: --
Human Gene Mutation Database (HGMD): MYH6

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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

MYH6 for disorders           About GeneDecksing

OMIM gene information: 160710
OMIM disorders: 613251  613252
UniProtKB/Swiss-Prot: MYH6_HUMAN, P13533

Defects in MYH6 are the cause of atrial septal defect type 3 (ASD3) [MIM:614089]. ASD3 is a congenital heart

malformation characterized by incomplete closure of the wall between the atria resulting in blood flow from the left

to the right atria

Defects in MYH6 are the cause of familial hypertrophic cardiomyopathy type 14 (CMH14) [MIM:613251]. It is a

hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the

interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations,and chest pain. They can be

readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant

forms with high risk of cardiac failure and sudden cardiac death

Defects in MYH6 are the cause of cardiomyopathy dilated type 1EE (CMD1EE) [MIM:613252]. It is a disorder

characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and

arrhythmia. Patients are at risk of premature death

Defects in MYH6 are the cause of susceptibility to sick sinus syndrome type 3 (SSS3) [MIM:614090]. The term

'sick sinus syndrome' encompasses a variety of conditions caused by sinus node dysfunction. The most common clinical

manifestations are syncope, presyncope, dizziness, and fatigue. Electrocardiogram typically shows sinus bradycardia,

sinus arrest, and/or sinoatrial block. Episodes of atrial tachycardias coexisting with sinus bradycardia

('tachycardia-bradycardia syndrome') are also common in this disorder. SSS occurs most often in the elderly associated

with underlying heart disease or previous cardiac surgery, but can also occur in the fetus, infant, or child without

heart disease or other contributing factors. Note=MYH6 variations are associated with susceptibility to sick sinus

syndrome (PubMed:21378987). The lifetime risk of being diagnosed with sick sinus syndrome is higher for carriers of

variant p.Arg721Trp than for non-carriers (PubMed:21378987)

20/37 diseases for MYH6 (see all 37): About MalaCards

atrial septal defect 3 cardiomyopathy charcot-marie-tooth disease charcot-marie-tooth disease type 1

familial hypertrophic cardiomyopathy hypertrophic cardiomyopathy charcot-marie-tooth disease type 1a holt-oram syndrome

cardiomyopathy, familial hypertrophic, 14 inclusion body myopathy heart septal defect atrial heart septal defect

resting heart rate tooth disease sick sinus syndrome congestive heart failure

congenital heart defect myopathy congenital myopathy myocarditis

5 diseases from the University of Copenhagen DISEASES database for MYH6:

Hypertrophic cardiomyopathy Familial hypertrophic cardiomyopathy Dilated cardiomyopathy Myopathy

Myocarditis

10/17 Novoseek disease relationships for MYH6 gene (see all 17) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
cardiac hypertrophy	64.8	7	15950203 (2), 11692158 (1), 10869539 (1), 10639182 (1) (see all 5)
hypertrophy	57	1	17379774 (1)
heart failure	52.9	11	15367688 (2), 19854200 (1), 18022084 (1), 12754214 (1) (see all 9)
holt-oram syndrome	49	1	15735645 (1)
myopathy	48.7	15	11114175 (2), 15605950 (2), 14991352 (1), 15737621 (1) (see all 11)
inclusion body myopathy	47.9	1	11114175 (1)
cardiomyopathy	46	5	17434305 (1), 19854200 (1), 15867177 (1), 16402410 (1) (see all 5)
myopathy, congenital	38	1	16130113 (1)
myocarditis	37.8	3	16402410 (1), 15286386 (1)
atrial septal defects	24.1	1	15735645 (1)

GeneTests: MYH6

Familial Hypertrophic Cardiomyopathy

Genetic Association Database (GAD): MYH6
Human Genome Epidemiology (HuGE) Navigator: MYH6 (9 documents)

Export disorders for MYH6 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)
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PubMed articles for MYH6 gene, integrated from 9 sources (see all 231):
(articles sorted by number of sources associating them with MYH6)

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

Alpha-myosin heavy chain: a sarcomeric gene associated with dilated and hypertrophic phenotypes of cardiomyopathy. (PubMed id 15998695)^{1, 2, 4, 9} Carniel E....Mestroni L. (2005)
Mutation in myosin heavy chain 6 causes atrial septal defect. (PubMed id 15735645)^{1, 2, 9} Ching Y.-H.... Brook J.D. (2005)
Complete sequence of human cardiac alpha-myosin heavy chain gene and amino acid comparison to other myosins based on structural and functional differences. (PubMed id 1776652)^{1, 2, 9} Matsuoka R.... Takao A. (1991)
Sarcomere protein gene mutations in hypertrophic cardiomyopathy of the elderly. (PubMed id 11815426)^{1, 2, 9} Niimura H.... Seidman C.E. (2002)
Structural organization of the human cardiac alpha-myosin heavy chain gene (MYH6). (PubMed id 8307559)^{1, 2, 9} Epp T.A.... Liew C.-C. (1993)
A rare variant in MYH6 is associated with high risk o f sick sinus syndrome. (PubMed id 21378987)^{1, 2} Holm H....Stefansson K. (2011)
A molecular basis for familial hypertrophic cardiomyopathy: an alpha/beta cardiac myosin heavy chain hybrid gene. (PubMed id 2144212)^{1, 3} Tanigawa G....Seidman C.E. (1990)
Characterization of human cardiac myosin heavy chain genes. (PubMed id 2726733)^{1, 2} Yamauchi-Takihara K.... Liew C.-C. (1989)
Molecular cloning and characterization of human cardiac alpha- and beta-form myosin heavy chain complementary DNA clones. Regulation of expression during development and pressure overload in human atrium. (PubMed id 2969919)^{1, 2} Kurabayashi M.... Yazaki Y. (1988)
Human cardiac myosin heavy chain genes and their linkage in the genome. (PubMed id 3037493)^{1, 2} Saez L.J.... Leinwand L.A. (1987)

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

Query String		PubMed OMIM NCBI Bookshelf
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 4624	HGNC: 7576	AceView: MYH7andMYH6	Ensembl:ENSG00000197616	euGenes: HUgn4624
ECgene: MYH6	Kegg: 4624	H-InvDB: MYH6

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for MYH6	Pharmacogenomics, SNPs, Pathways
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/MYH6

Intellectual Property for MYH6 gene
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Patent Information for MYH6 gene:
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GeneCards and IP:
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MYH6 Gene

myosin, heavy chain 6, cardiac muscle, alpha

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MYH6 Gene

myosin, heavy chain 6, cardiac muscle, alpha

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