MYH6 Gene (Protein Coding)

Myosin Heavy Chain 6

GC14M023380
GIFtS:
45
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 approximately 4kb downstream of the gene encoding the beta heavy chain subunit of cardiac myosin. Mutations in this gene cause familial hypertrophic cardiomyopathy... See more...

Aliases for MYH6 Gene

Aliases for MYH6 Gene

  • Myosin Heavy Chain 6 2 3 4 5
  • Myosin, Heavy Polypeptide 6, Cardiac Muscle, Alpha (Cardiomyopathy, Hypertrophic 1) 2 3
  • Myosin Heavy Chain, Cardiac Muscle Alpha Isoform 3 4
  • MyHC-Alpha 3 4
  • Myosin-6 3 4
  • MYHCA 3 4
  • Cardiomyopathy, Hypertrophic 1 2
  • Alpha-MHC 3
  • CMD1EE 3
  • CMH14 3
  • ASD3 3
  • MYHC 3
  • SSS3 3
  • MYH6 5

External Ids for MYH6 Gene

Previous GeneCards Identifiers for MYH6 Gene

  • GC14M021223
  • GC14M017638
  • GC14M021841
  • GC14M022921
  • GC14M023851
  • GC14M003967

Summaries for MYH6 Gene

Entrez Gene Summary for MYH6 Gene

  • 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 approximately 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, Feb 2017]

GeneCards Summary for MYH6 Gene

MYH6 (Myosin Heavy Chain 6) is a Protein Coding gene. Diseases associated with MYH6 include Atrial Septal Defect 3 and Cardiomyopathy, Dilated, 1Ee. Among its related pathways are Dilated cardiomyopathy (DCM) and Actin Nucleation by ARP-WASP Complex. Gene Ontology (GO) annotations related to this gene include protein kinase binding and ATPase activity. An important paralog of this gene is MYH7.

UniProtKB/Swiss-Prot Summary for MYH6 Gene

Tocris Summary for MYH6 Gene

  • Myosins are a large family of motor proteins that share the common features of ATP hydrolysis (ATPase enzyme activity), actin binding and potential for kinetic energy transduction. Originally isolated from muscle cells, almost all eukaryotic cells are known to contain myosins.

Gene Wiki entry for MYH6 Gene

Additional gene information for MYH6 Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MYH6 Gene

Genomics for MYH6 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for MYH6 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH14J023404 Promoter/Enhancer 1.7 VISTA EPDnew Ensembl dbSUPER 600.7 +2.3 2251 6.8 PRDM10 PHB2 ZIC2 FOXK2 SCRT2 FOXA1 TSHZ1 ZNF585B YBX1 CREB1 MYH6 RNA5SP383 ACIN1 RNF31 PABPN1 MDP1 PRMT5 C14orf93 CIDEB LOC102724814
GH14J023411 Promoter/Enhancer 0.8 EPDnew Ensembl dbSUPER 600.7 -3.0 -3028 0.6 SP1 NBN MYH6 DHRS4-AS1 ENSG00000258444 MYH7
GH14J023416 Promoter/Enhancer 0.5 EPDnew dbSUPER 600.4 -8.7 -8700 0.1 ENSG00000258444 MHRT MIR208B MYH6 MYH7 lnc-MYH6-1
GH14J023415 Promoter/Enhancer 0.5 EPDnew dbSUPER 600.4 -7.4 -7437 0.1 ENSG00000258444 MHRT MYH6 MIR208B MYH7 lnc-MYH6-1
GH14J023410 Enhancer 0.3 FANTOM5 dbSUPER 623.4 -1.9 -1899 0.3 MYH6 MYH7 ENSG00000258444
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MYH6 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MYH6

Top Transcription factor binding sites by QIAGEN in the MYH6 gene promoter:
  • aMEF-2
  • c-Ets-1
  • HNF-4alpha1
  • HNF-4alpha2
  • MEF-2
  • MEF-2A
  • PPAR-alpha
  • YY1

Genomic Locations for MYH6 Gene

Genomic Locations for MYH6 Gene
chr14:23,381,982-23,408,273
(GRCh38/hg38)
Size:
26,292 bases
Orientation:
Minus strand
chr14:23,851,199-23,877,486
(GRCh37/hg19)
Size:
26,288 bases
Orientation:
Minus strand

Genomic View for MYH6 Gene

Genes around MYH6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MYH6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MYH6 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for MYH6 Gene

Proteins for MYH6 Gene

Products:

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  • Protein details for MYH6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P13533-MYH6_HUMAN
    Recommended name:
    Myosin-6
    Protein Accession:
    P13533
    Secondary Accessions:
    • A2RTX1
    • D9YZU2
    • Q13943
    • Q14906
    • Q14907

    Protein attributes for MYH6 Gene

    Size:
    1939 amino acids
    Molecular mass:
    223735 Da
    Quaternary structure:
    • 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).
    SequenceCaution:
    • Sequence=CAA29120.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
    Miscellaneous:
    • The cardiac alpha isoform is a 'fast' ATPase myosin, while the beta isoform is a 'slow' ATPase.

neXtProt entry for MYH6 Gene

Protein Expression for MYH6 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for MYH6 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MYH6 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for MYH6 Gene

Domains & Families for MYH6 Gene

Gene Families for MYH6 Gene

HGNC:
Human Protein Atlas (HPA):
  • Candidate cardiovascular disease genes
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for MYH6 Gene

InterPro:
Blocks:
  • IQ calmodulin-binding region
  • Myosin tail
  • Myosin N-terminal SH3-like domain
ProtoNet:

Suggested Antigen Peptide Sequences for MYH6 Gene

GenScript: Design optimal peptide antigens:
  • Myosin, heavy chain 6, cardiac muscle, alpha (D9YZU2_HUMAN)
  • Myosin heavy chain, cardiac muscle alpha isoform (MYH6_HUMAN)
  • MYH6 protein (Q1ED46_HUMAN)
  • Alpha-myosin heavy chain (Q9UQV1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P13533

UniProtKB/Swiss-Prot:

MYH6_HUMAN :
  • 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.
  • Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family.
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.
  • Limited proteolysis of myosin heavy chain produces 1 light meromyosin (LMM) and 1 heavy meromyosin (HMM). HMM can be further cleaved into 2 globular subfragments (S1) and 1 rod-shaped subfragment (S2).
Family:
  • Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family.
genes like me logo Genes that share domains with MYH6: view

Function for MYH6 Gene

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Molecular function for MYH6 Gene

UniProtKB/Swiss-Prot Function:
Muscle contraction.
GENATLAS Biochemistry:
myosin,motor contractile protein moving towards the "plus" end of actin track,heavy polypeptide 6,cardiac muscle,alpha

Phenotypes From GWAS Catalog for MYH6 Gene

Gene Ontology (GO) - Molecular Function for MYH6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000146 microfilament motor activity IEA,ISS --
GO:0000166 nucleotide binding IEA --
GO:0003774 motor activity IEA --
GO:0003779 actin binding IEA --
GO:0005515 protein binding IEA --
genes like me logo Genes that share ontologies with MYH6: view
genes like me logo Genes that share phenotypes with MYH6: view

Human Phenotype Ontology for MYH6 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for MYH6 Gene

MGI Knock Outs for MYH6:
  • Myh6 Myh6<tm1Rbns>

Animal Model Products

CRISPR Products

miRNA for MYH6 Gene

miRTarBase miRNAs that target MYH6

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MYH6

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for MYH6 Gene

Localization for MYH6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MYH6 Gene

Cytoplasm, myofibril. Note=Thick filaments of the myofibrils.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MYH6 gene
Compartment Confidence
cytoskeleton 5
cytosol 5
nucleus 4
mitochondrion 3
plasma membrane 2
extracellular 2
endoplasmic reticulum 2
lysosome 2
golgi apparatus 2
peroxisome 1
endosome 1

Gene Ontology (GO) - Cellular Components for MYH6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001725 stress fiber IEA --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
GO:0005859 muscle myosin complex TAS 1776652
GO:0016459 myosin complex TAS 12933792
genes like me logo Genes that share ontologies with MYH6: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for MYH6 Gene

Pathways & Interactions for MYH6 Gene

PathCards logo

SuperPathways for MYH6 Gene

SuperPathway Contained pathways
1 Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases
Cell adhesion Integrin-mediated cell adhesion and migration
.49
Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases
.49
Development MAG-dependent inhibition of neurite outgrowth
.42
Cell adhesion Tight junctions
.32
2 PAK Pathway
Antioxidant Action of Vitamin-C
.56
PAK Pathway
.56
Epithelial Adherens Junctions
.36
3 cGMP-PKG signaling pathway
Adrenergic signaling in cardiomyocytes
.32
cGMP-PKG signaling pathway
.32
4 Dilated cardiomyopathy (DCM)
Dilated cardiomyopathy (DCM)
.75
Hypertrophic cardiomyopathy (HCM)
.75
5 Actin Nucleation by ARP-WASP Complex
Actin Nucleation by ARP-WASP Complex
.66
RhoA Pathway
.35
genes like me logo Genes that share pathways with MYH6: view

Pathways by source for MYH6 Gene

6 GeneGo (Thomson Reuters) pathways for MYH6 Gene
  • Cell adhesion Integrin-mediated cell adhesion and migration
  • Cell adhesion Tight junctions
  • Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases
  • Development MAG-dependent inhibition of neurite outgrowth
  • Immune response CCR3 signaling in eosinophils
11 Qiagen pathways for MYH6 Gene
  • Actin Nucleation by ARP-WASP Complex
  • Antioxidant Action of Vitamin-C
  • Cellular Effects of Sildenafil
  • Epithelial Adherens Junctions
  • Epithelial Tight Junctions

SIGNOR curated interactions for MYH6 Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for MYH6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001701 in utero embryonic development IEA,ISS --
GO:0002026 regulation of the force of heart contraction IEA,ISS --
GO:0002027 regulation of heart rate IEA,IDA 15621050
GO:0006470 protein dephosphorylation IEA --
GO:0006936 muscle contraction IDA 15621050
genes like me logo Genes that share ontologies with MYH6: view

Drugs & Compounds for MYH6 Gene

Products:

  1. Drug

(24) Drugs for MYH6 Gene - From: ApexBio, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Digoxin Approved Pharma Na+/K+ ATPase inhibitor 179
Brefeldin A Experimental Pharma Disrupts protein translocation to Golgi 0
Omecamtiv mecarbil Investigational Pharma Cardiac myosin activator 0
(-)-Blebbistatin Pharma Non muscle myosin II ATPase inhibitor 0
BHQ Pharma 0

(9) Additional Compounds for MYH6 Gene - From: Novoseek and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
(+-)-Blebbistatin
674289-55-5
(S)-(-)-Blebbistatin
856925-71-8

(4) Tocris Compounds for MYH6 Gene

Compound Action Cas Number
(+-)-Blebbistatin Selective inhibitor of myosin II ATPase activity 674289-55-5
(R)-(+)-Blebbistatin Selective inhibitor of myosin II ATPase activity. Inactive enantiomer of (+-)-blebbistatin (Cat. No. 1760) 1177356-70-5
(S)-(-)-Blebbistatin Selective inhibitor of myosin II ATPase activity. Active enantiomer of (+-)-blebbistatin (Cat. No. 1760) 856925-71-8
BTS Selective inhibitor of skeletal muscle myosin II ATPase activity 1576-37-0

(6) ApexBio Compounds for MYH6 Gene

Compound Action Cas Number
(-)-Blebbistatin Non muscle myosin II ATPase inhibitor 856925-71-8
BHQ 88-58-4
Brefeldin A 20350-15-6
Digoxin 20830-75-5
Omecamtiv mecarbil Cardiac myosin activator 873697-71-3
RBC8 361185-42-4
genes like me logo Genes that share compounds with MYH6: view

Drug Products

Transcripts for MYH6 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for MYH6 Gene

1 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MYH6

Alternative Splicing Database (ASD) splice patterns (SP) for MYH6 Gene

No ASD Table

Relevant External Links for MYH6 Gene

GeneLoc Exon Structure for
MYH6

Expression for MYH6 Gene

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  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MYH6 Gene

mRNA expression in normal human tissues for MYH6 Gene
mRNA expression by BioGPS for MYH6 GenemRNA expression by GTEx for MYH6 Gene

mRNA differential expression in normal tissues according to GTEx for MYH6 Gene

This gene is overexpressed in Heart - Atrial Appendage (x41.3) and Heart - Left Ventricle (x10.3).

Protein differential expression in normal tissues from HIPED for MYH6 Gene

This gene is overexpressed in Fetal heart (36.5) and Heart (30.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for MYH6 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MYH6

SOURCE GeneReport for Unigene cluster for MYH6 Gene:

Hs.278432

Evidence on tissue expression from TISSUES for MYH6 Gene

  • Heart(5)
  • Lung(4.8)
  • Muscle(4.7)
  • Pancreas(4)
  • Kidney(3.7)
  • Liver(3.6)
  • Intestine(3.3)
  • Gall bladder(3.1)
  • Nervous system(3.1)
  • Thyroid gland(2.9)
  • Adrenal gland(2.9)
  • Blood(2.8)
  • Eye(2.6)
  • Skin(2.5)
  • Bone(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for MYH6 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cranial nerve
  • ear
  • eye
  • head
  • sinus
  • skull
Thorax:
  • heart
  • heart valve
  • lung
Limb:
  • lower limb
  • upper limb
General:
  • blood
  • blood vessel
  • coagulation system
  • peripheral nervous system
  • red blood cell
  • spinal cord
genes like me logo Genes that share expression patterns with MYH6: view

No data available for Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for MYH6 Gene

Orthologs for MYH6 Gene

This gene was present in the common ancestor of animals.

Orthologs for MYH6 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia MYH6 30 31
  • 97.05 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia MYH7 31
  • 96 (a)
 OneToOne
MYH6 30
  • 91.78 (n)
Rat
(Rattus norvegicus)
 Mammalia Myh6 30
  • 91.83 (n)
Mouse
(Mus musculus)
 Mammalia Myh6 30 17 31
  • 91.68 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia MYH6 30
  • 91.23 (n)
Platypus
(Ornithorhynchus anatinus)
 Mammalia MYH6 31
  • 91 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves MYH15 30
  • 71.79 (n)
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia myh6 30
  • 77.75 (n)
Zebrafish
(Danio rerio)
 Actinopterygii si:ch211-24n20.3 31
  • 86 (a)
 ManyToMany
smyhc3 31
  • 86 (a)
 ManyToMany
CR450736.2 31
  • 86 (a)
 ManyToMany
CU633479.5 31
  • 86 (a)
 ManyToMany
CU633479.6 31
  • 86 (a)
 ManyToMany
smyhc2 31
  • 85 (a)
 ManyToMany
vmhc 31
  • 85 (a)
 ManyToMany
vmhcl 31
  • 85 (a)
 ManyToMany
smyhc1 31
  • 85 (a)
 ManyToMany
myh6 30 31
  • 73.25 (n)
 ManyToMany
Fruit Fly
(Drosophila melanogaster)
 Insecta Mhc 32
  • 51 (a)
Prm 32
  • 35 (a)
Worm
(Caenorhabditis elegans)
 Secernentea myo-3 32
  • 49 (a)
F58G4.1 32
  • 49 (a)
F45G2.2 32
  • 45 (a)
Y11D7A.14 32
  • 27 (a)
hcp-1 32
  • 20 (a)
Species where no ortholog for MYH6 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Oppossum (Monodelphis domestica)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for MYH6 Gene

ENSEMBL:
Gene Tree for MYH6 (if available)
TreeFam:
Gene Tree for MYH6 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MYH6: view image

Paralogs for MYH6 Gene

Variants for MYH6 Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MYH6 Gene

SNP ID Clinical significance and condition Chr 14 pos Variation AA Info Type
239165 Benign/Likely Benign: Familial hypertrophic cardiomyopathy 14; Cardiovascular phenotype 23,392,601(-) CA/TG MISSENSE_VARIANT
573220 Uncertain Significance: Familial hypertrophic cardiomyopathy 14 23,387,892(-) TC/GA
640276 Uncertain Significance: Familial hypertrophic cardiomyopathy 14 23,382,562(-) C/T MISSENSE_VARIANT
640902 Uncertain Significance: Familial hypertrophic cardiomyopathy 14 23,389,036(-) T/C MISSENSE_VARIANT
641122 Uncertain Significance: Familial hypertrophic cardiomyopathy 14 23,387,758(-) C/A NONSENSE

Additional dbSNP identifiers (rs#s) for MYH6 Gene

Structural Variations from Database of Genomic Variants (DGV) for MYH6 Gene

Variant ID Type Subtype PubMed ID
esv2748480 CNV deletion 23290073
esv3584149 CNV gain 25503493
nsv456166 CNV gain 19166990
nsv470623 CNV gain 18288195
nsv477741 CNV novel sequence insertion 20440878
nsv564041 CNV gain 21841781
nsv564042 CNV loss 21841781
nsv976321 CNV duplication 23825009

Variation tolerance for MYH6 Gene

Residual Variation Intolerance Score: 15.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 14.64; 96.56% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MYH6 Gene

Human Gene Mutation Database (HGMD)
MYH6
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MYH6

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MYH6 Gene

Disorders for MYH6 Gene

MalaCards: The human disease database

(74) MalaCards diseases for MYH6 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
atrial septal defect 3
  • asd3
cardiomyopathy, dilated, 1ee
  • cmd1ee
sick sinus syndrome 3
  • sick sinus syndrome 3, susceptibility to
cardiomyopathy, familial hypertrophic, 14
  • cmh14
heart disease
  • congenital heart disease
- elite association - COSMIC cancer census association via MalaCards
Search MYH6 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

MYH6_HUMAN
  • Atrial septal defect 3 (ASD3) [MIM:614089]: 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. {ECO:0000269 PubMed:15735645}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Cardiomyopathy, familial hypertrophic 14 (CMH14) [MIM:613251]: 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. {ECO:0000269 PubMed:11815426, ECO:0000269 PubMed:15998695}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Cardiomyopathy, dilated 1EE (CMD1EE) [MIM:613252]: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. {ECO:0000269 PubMed:15998695}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Sick sinus syndrome 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. {ECO:0000269 PubMed:21378987}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry. The lifetime risk of being diagnosed with sick sinus syndrome is higher for carriers of variant p.Arg721Trp than for non-carriers. {ECO:0000269 PubMed:21378987}.

Additional Disease Information for MYH6

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with MYH6: view

No data available for Genatlas for MYH6 Gene

Publications for MYH6 Gene

  1. Alpha-myosin heavy chain: a sarcomeric gene associated with dilated and hypertrophic phenotypes of cardiomyopathy. (PMID: 15998695) Carniel E … Mestroni L (Circulation 2005) 3 4 23 41
  2. Coding sequence rare variants identified in MYBPC3, MYH6, TPM1, TNNC1, and TNNI3 from 312 patients with familial or idiopathic dilated cardiomyopathy. (PMID: 20215591) Hershberger RE … Gonzalez-Quintana J (Circulation. Cardiovascular genetics 2010) 3 23 41
  3. Mutation in myosin heavy chain 6 causes atrial septal defect. (PMID: 15735645) Ching YH … Brook JD (Nature genetics 2005) 3 4 23
  4. Sarcomere protein gene mutations in hypertrophic cardiomyopathy of the elderly. (PMID: 11815426) Niimura H … Seidman CE (Circulation 2002) 3 4 23
  5. Structural organization of the human cardiac alpha-myosin heavy chain gene (MYH6). (PMID: 8307559) Epp TA … Liew CC (Genomics 1993) 3 4 23

ExternalLinks

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Products for MYH6 Gene

  • Signalway ELISA kits for MYH6
  • Signalway Proteins for MYH6

Sources for MYH6 Gene