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Aliases for MYH6 Gene

Aliases for MYH6 Gene

  • Myosin, Heavy Chain 6, Cardiac Muscle, Alpha 2 3
  • MYHCA 3 4 6
  • 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
  • CMD1EE 3 6
  • CMH14 3 6
  • ASD3 3 6
  • SSS3 3 6
  • Cardiomyopathy 2
  • Hypertrophic 1 2
  • Alpha-MHC 3
  • Myosin-6 3
  • MYHC 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 cardiomyopathy, familial hypertrophic, 14 and atrial septal defect 3. Among its related pathways are RhoGDI Pathway and ERK Signaling. GO annotations related to this gene include actin binding and calmodulin binding. 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, 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 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

Start:
23,380,733 bp from pter
End:
23,409,622 bp from pter
Size:
28,890 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 Lys206, Lys207, Lys214, Lys1281, Lys1539, and Lys1571
  • Modification sites at PhosphoSitePlus

Other Protein References for MYH6 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for MYH6 Gene

Domains for MYH6 Gene

Gene Families for MYH6 Gene

HGNC:
  • MYHII :Myosins / Myosin superfamily : Class II

Suggested Antigen Peptide Sequences for MYH6 Gene

Graphical View of Domain Structure for InterPro Entry

P13533

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
  • 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

CRISPR Products

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) , miRNA , Transcription Factor Targeting 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
extracellular 1
golgi apparatus 1
mitochondrion 1
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:0005634 nucleus --
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IDA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with MYH6: view

Pathways 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:0006200 obsolete ATP catabolic process --
GO:0006936 muscle contraction IDA 15621050
genes like me logo Genes that share ontologies with MYH6: view

Compounds for MYH6 Gene

(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]

(23) Novoseek inferred chemical compound relationships for MYH6 Gene

Compound -log(P) Hits PubMed IDs
etomoxir 65.9 3
triiodothyronine 38.9 2
mspi 23.6 1
ryanodine 17.8 3
chloramphenicol 17.3 1
genes like me logo Genes that share compounds with MYH6: view

Transcripts for MYH6 Gene

mRNA/cDNA for MYH6 Gene

(640) Selected AceView cDNA sequences:
(7) Additional mRNA sequences :
(1) REFSEQ mRNAs :
(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:

CRISPR Products

miRNA Products

Inhibitory RNA Products

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

Primer Products

  • OriGene qSTAR qPCR primer pairs 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 (41.3) and Heart - Left Ventricle (10.3).

Integrated Proteomics: protein expression 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 expressions with MYH6: view

In Situ Assay Products

No data available for 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 35
  • 97.05 (n)
  • 96.82 (a)
MYH6 36
  • 97 (a)
OneToOne
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
platypus
(Ornithorhynchus anatinus)
Mammalia MYH6 36
  • 91 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Myh6 35
  • 91.83 (n)
  • 97.11 (a)
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 CR450736.2 36
  • 86 (a)
ManyToMany
CU633479.5 36
  • 86 (a)
ManyToMany
CU633479.6 36
  • 86 (a)
ManyToMany
myh6 35
  • 73.25 (n)
  • 83.15 (a)
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 myo-3 37
  • 49 (a)
hcp-1 37
  • 20 (a)
F58G4.1 37
  • 49 (a)
F45G2.2 37
  • 45 (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
rs178634 -- 23,380,790(+) TTCTG(C/G)AGCGC reference, synonymous-codon
rs178635 -- 23,381,626(+) GACAC(A/C)TTTAA downstream-variant-500B, intron-variant
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

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

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

(4) OMIM Diseases for MYH6 Gene (160710)

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}.

(17) Novoseek inferred disease relationships for MYH6 Gene

Disease -log(P) Hits PubMed IDs
cardiac hypertrophy 64.8 6
hypertrophy 57 1
heart failure 52.9 10
holt-oram syndrome 49 1
myopathy 48.7 13

Relevant External Links for MYH6

GeneTests
MYH6
GeneReviews
MYH6
Genetic Association Database (GAD)
MYH6
Human Genome Epidemiology (HuGE) Navigator
MYH6
genes like me logo Genes that share disorders with MYH6: view

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 48
  2. Mutation in myosin heavy chain 6 causes atrial septal defect. (PMID: 15735645) Ching Y.-H. … Brook J.D. (Nat. Genet. 2005) 3 4 23
  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) 3 23 48
  4. Complete sequence of human cardiac alpha-myosin heavy chain gene and amino acid comparison to other myosins based on structural and functional differences. (PMID: 1776652) Matsuoka R. … Takao A. (Am. J. Med. Genet. 1991) 3 4 23
  5. Structural organization of the human cardiac alpha-myosin heavy chain gene (MYH6). (PMID: 8307559) Epp T.A. … Liew C.-C. (Genomics 1993) 3 4 23

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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