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Aliases for MYH6 Gene

Aliases for MYH6 Gene

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

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 ~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]

GeneCards Summary for MYH6 Gene

MYH6 (Myosin, Heavy Chain 6, Cardiac Muscle, Alpha) is a Protein Coding gene. Diseases associated with MYH6 include myh6-related dilated cardiomyopathy and myh6-related familial hypertrophic cardiomyopathy. Among its related pathways are RhoGDI Pathway and PAK Pathway. GO annotations related to this gene include protein kinase binding and ATPase activity. An important paralog of this gene is MYH4.

UniProtKB/Swiss-Prot for MYH6 Gene

  • Muscle contraction

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

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MYH6 Gene

Genomics for MYH6 Gene

Regulatory Elements for MYH6 Gene

Genomic Location for MYH6 Gene

Chromosome:
14
Start:
23,381,990 bp from pter
End:
23,408,277 bp from pter
Size:
26,288 bases
Orientation:
Minus strand

Genomic View for MYH6 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for MYH6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MYH6 Gene

Proteins for MYH6 Gene

  • 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)
    Miscellaneous:
    • The cardiac alpha isoform is a fast ATPase myosin, while the beta isoform is a slow ATPase
    SequenceCaution:
    • Sequence=CAA29120.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

neXtProt entry for MYH6 Gene

Proteomics data for MYH6 Gene at MOPED

Post-translational modifications for MYH6 Gene

  • Ubiquitination at Lys 206, Lys 207, Lys 214, Lys 1281, Lys 1539, and Lys 1571
  • Modification sites at PhosphoSitePlus

Other Protein References for MYH6 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for MYH6 Gene

Domains & Families for MYH6 Gene

Gene Families for MYH6 Gene

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
  • 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)
  • Contains 1 IQ domain.
  • Contains 1 myosin motor domain.
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

Molecular function for MYH6 Gene

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

Gene Ontology (GO) - Molecular Function for MYH6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000146 microfilament motor activity ISS --
GO:0003774 motor activity --
GO:0003779 actin binding IEA --
GO:0005515 protein binding --
GO:0005516 calmodulin binding IEA --
genes like me logo Genes that share ontologies with MYH6: view
genes like me logo Genes that share phenotypes with MYH6: view

Animal Models for MYH6 Gene

MGI Knock Outs for MYH6:

Animal Model Products

miRNA for MYH6 Gene

miRTarBase miRNAs that target MYH6

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for MYH6

In Situ Assay Products

Flow Cytometry Products

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
Jensen Localization Image for MYH6 Gene COMPARTMENTS Subcellular localization image for MYH6 gene
Compartment Confidence
cytoskeleton 5
cytosol 4
nucleus 4
endoplasmic reticulum 2
mitochondrion 2
plasma membrane 1

Gene Ontology (GO) - Cellular Components for MYH6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001725 stress fiber IEA --
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IDA --
GO:0005829 cytosol TAS --
GO:0005859 muscle myosin complex TAS 1776652
genes like me logo Genes that share ontologies with MYH6: view

Pathways & Interactions for MYH6 Gene

genes like me logo Genes that share pathways with MYH6: view

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays
    • Embryonic Stem Cells in human,mouse,rat
    • Terminal Differentiation Markers in human,mouse,rat

Gene Ontology (GO) - Biological Process for MYH6 Gene

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:0006936 muscle contraction IDA 15621050
GO:0006941 striated muscle contraction ISS --
genes like me logo Genes that share ontologies with MYH6: view

No data available for SIGNOR curated interactions for MYH6 Gene

Drugs & Compounds for MYH6 Gene

(15) Drugs for MYH6 Gene - From: NovoSeek and ApexBio

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Chloramphenicol Approved Pharma 6
Estradiol Approved, Investigational Pharma Sex hormone 1057
Isoproterenol Approved Pharma Full agonist, Agonist 15
Levothyroxine Approved Pharma 0
Neomycin Approved Pharma 37

(13) Additional Compounds for MYH6 Gene - From: NovoSeek and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
(+-)-Blebbistatin
674289-55-5
(R)-(+)-Blebbistatin
1177356-70-5
(S)-(-)-Blebbistatin
856925-71-8
BTS
1576-37-0
ETOMOXIR
genes like me logo Genes that share compounds with MYH6: view

Transcripts for MYH6 Gene

mRNA/cDNA for MYH6 Gene

(1) REFSEQ mRNAs :
(7) Additional mRNA sequences :
(640) Selected AceView cDNA sequences:
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for MYH6 Gene

Myosin, heavy chain 6, cardiac muscle, alpha:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for MYH6

Flow Cytometry Products

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

No ASD Table

Relevant External Links for MYH6 Gene

GeneLoc Exon Structure for
MYH6
ECgene alternative splicing isoforms for
MYH6

Expression for MYH6 Gene

mRNA expression in normal human tissues 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, PaxDb, and MOPED for MYH6 Gene



SOURCE GeneReport for Unigene cluster for MYH6 Gene Hs.278432

genes like me logo Genes that share expression patterns with MYH6: view

Primer Products

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners 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
cow
(Bos Taurus)
Mammalia MYH6 35
  • 91.78 (n)
  • 96.11 (a)
MYH7 36
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MYH6 35
  • 91.23 (n)
  • 96.23 (a)
mouse
(Mus musculus)
Mammalia Myh6 35
  • 91.68 (n)
  • 97.01 (a)
Myh6 16
Myh6 36
  • 97 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia MYH6 35
  • 97.05 (n)
  • 96.82 (a)
MYH6 36
  • 97 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Myh6 35
  • 91.83 (n)
  • 97.11 (a)
platypus
(Ornithorhynchus anatinus)
Mammalia MYH6 36
  • 91 (a)
OneToOne
chicken
(Gallus gallus)
Aves MYH15 35
  • 71.79 (n)
  • 78.83 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia myh6 35
  • 77.75 (n)
  • 89.43 (a)
zebrafish
(Danio rerio)
Actinopterygii myh6 35
  • 73.25 (n)
  • 83.15 (a)
CR450736.2 36
  • 86 (a)
ManyToMany
CU633479.5 36
  • 86 (a)
ManyToMany
CU633479.6 36
  • 86 (a)
ManyToMany
myh6 36
  • 83 (a)
ManyToMany
si:ch211-24n20.3 36
  • 86 (a)
ManyToMany
smyhc1 36
  • 85 (a)
ManyToMany
smyhc2 36
  • 85 (a)
ManyToMany
smyhc3 36
  • 86 (a)
ManyToMany
vmhc 36
  • 85 (a)
ManyToMany
vmhcl 36
  • 85 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta Mhc 37
  • 51 (a)
Prm 37
  • 35 (a)
worm
(Caenorhabditis elegans)
Secernentea F45G2.2 37
  • 45 (a)
F58G4.1 37
  • 49 (a)
hcp-1 37
  • 20 (a)
myo-3 37
  • 49 (a)
Y11D7A.14 37
  • 27 (a)
Species with no ortholog for MYH6:
  • A. gosspyii yeast (Ashbya 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 squirt (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)

Paralogs for MYH6 Gene

Paralogs for MYH6 Gene

genes like me logo Genes that share paralogs with MYH6: view

Variants for MYH6 Gene

Sequence variations from dbSNP and Humsavar for MYH6 Gene

SNP ID Clin Chr 14 pos Sequence Context AA Info Type MAF
rs178635 -- 23,381,626(+) GACAC(A/C)TTTAA downstream-variant-500B
rs178636 -- 23,382,665(+) CCCAT(A/C/G)CCTCA intron-variant
rs178637 -- 23,385,063(+) AAAAA(C/T)GATCA intron-variant
rs178638 -- 23,385,115(+) CCAGA(A/G)AGAAT intron-variant
rs178639 -- 23,385,143(+) TTTTT(A/T)AAACA intron-variant

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

Variant ID Type Subtype PubMed ID
nsv901493 CNV Loss 21882294
esv2748480 CNV Deletion 23290073
nsv470623 CNV Gain 18288195
nsv456166 CNV Gain 19166990

Variation tolerance for MYH6 Gene

Residual Variation Intolerance Score: 15.44% 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)

Relevant External Links for MYH6 Gene

HapMap Linkage Disequilibrium report
MYH6
Human Gene Mutation Database (HGMD)
MYH6

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

Disorders for MYH6 Gene

MalaCards: The human disease database

(34) MalaCards diseases for MYH6 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, NovoSeek, and GeneCards

Disorder Aliases PubMed IDs
myh6-related dilated cardiomyopathy
  • cardiomyopathy, dilated, 1ee
myh6-related familial hypertrophic cardiomyopathy
cardiomyopathy, hypertrophic, 14
  • cardiomyopathy, familial hypertrophic, 14
atrial septal defect 3
  • asd3
cardiomyopathy, dilated, 1ee
  • cardiomyopathy, dilated 1ee
- elite association
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, 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.
  • 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.
  • 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}.

Relevant External Links for MYH6

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

No data available for Genatlas for MYH6 Gene

Publications for MYH6 Gene

  1. Effects of myosin heavy chain manipulation in experimental heart failure. (PMID: 19854200) James J. … Robbins J. (J. Mol. Cell. Cardiol. 2010) 23 67
  2. Effects of elevated thyroid hormone on adult rabbit extraocular muscles. (PMID: 19628737) Harrison A.R. … McLoon L.K. (Invest. Ophthalmol. Vis. Sci. 2010) 23 67
  3. Coding sequence rare variants identified in MYBPC3, MYH6, TPM1, TNNC1, and TNNI3 from 312 patients with familial or idiopathic dilated cardiomyopathy. (PMID: 20215591) Hershberger R.E. … Gonzalez-Quintana J. (Circ Cardiovasc Genet 2010) 23 67
  4. The full length cloning of a novel porcine gene CFL2b and its influence on the MyHC expression. (PMID: 19123043) Zhao W. … Song H.J. (Mol. Biol. Rep. 2009) 23 67
  5. Determination of rate constants for turnover of myosin isoforms in rat myocardium: implications for in vivo contractile kinetics. (PMID: 19395549) Locher M.R. … Moss R.L. (Am. J. Physiol. Heart Circ. Physiol. 2009) 23 67

Products for MYH6 Gene

  • Pathway & Disease-focused RT² Profiler PCR Arrays
    • Embryonic Stem Cells in human,mouse,rat
    • Terminal Differentiation Markers in human,mouse,rat
  • QIAGEN qRT-PCR Assays for microRNAs that regulate MYH6
    • QuantiTect SYBR Green Assays in human,mouse,rat
    • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
    • QuantiFast Probe-based Assays in human,mouse,rat
    • Predesigned siRNA for gene silencing in human,mouse,rat for MYH6
    • Block miRNA regulation of MYH6 using miScript Target Protectors

    Sources for MYH6 Gene

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