Human Gene MYH6 (ENST00000405093.9) from GENCODE V39
  Description: Homo sapiens myosin heavy chain 6 (MYH6), mRNA. (from RefSeq NM_002471)
RefSeq Summary (NM_002471): 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].
Gencode Transcript: ENST00000405093.9
Gencode Gene: ENSG00000197616.13
Transcript (Including UTRs)
   Position: hg38 chr14:23,381,987-23,408,273 Size: 26,287 Total Exon Count: 39 Strand: -
Coding Region
   Position: hg38 chr14:23,382,040-23,407,223 Size: 25,184 Coding Exon Count: 37 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesGeneReviewsMethods
Data last updated at UCSC: 2022-01-17 08:30:34

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr14:23,381,987-23,408,273)mRNA (may differ from genome)Protein (1939 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDLynxMGIneXtProtOMIM
PubMedReactomeUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: MYH6_HUMAN
DESCRIPTION: RecName: Full=Myosin-6; AltName: Full=Myosin heavy chain 6; AltName: Full=Myosin heavy chain, cardiac muscle alpha isoform; Short=MyHC-alpha;
FUNCTION: Muscle contraction.
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.
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).
DISEASE: 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.
DISEASE: 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.
DISEASE: 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.
DISEASE: 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).
MISCELLANEOUS: The cardiac alpha isoform is a 'fast' ATPase myosin, while the beta isoform is a 'slow' ATPase.
SIMILARITY: Contains 1 IQ domain.
SIMILARITY: Contains 1 myosin head-like domain.
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;
WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/MYH6";

-  MalaCards Disease Associations
  MalaCards Gene Search: MYH6
Diseases sorted by gene-association score: atrial septal defect 3* (1340), cardiomyopathy, dilated, 1ee* (1229), cardiomyopathy, hypertrophic, 14* (1200), sick sinus syndrome 3* (1004), myh6-related dilated cardiomyopathy* (500), patent foramen ovale* (186), cardiomyopathy, familial hypertrophic* (154), myh6-related familial hypertrophic cardiomyopathy* (100), familial isolated dilated cardiomyopathy* (61), sick sinus syndrome (26), cardiomyopathy (22), holt-oram syndrome (15), familial sick sinus syndrome* (14), myosin storage myopathy (13), myocarditis (11), heart disease (11), congestive heart failure (11), atrial heart septal defect (9), charcot-marie-tooth disease, type 1a (8), extrinsic cardiomyopathy (7), distal arthrogryposis (6), sinoatrial node disease (6), dilated cardiomyopathy (4), intrinsic cardiomyopathy (4)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 3252.31 RPKM in Heart - Atrial Appendage
Total median expression: 3625.00 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -15.2067-0.227 Picture PostScript Text
3' UTR -4.3053-0.081 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR000048 - IQ_motif_EF-hand-BS
IPR001609 - Myosin_head_motor_dom
IPR004009 - Myosin_N
IPR002928 - Myosin_tail

Pfam Domains:
PF00063 - Myosin head (motor domain)
PF02736 - Myosin N-terminal SH3-like domain
PF01576 - Myosin tail

ModBase Predicted Comparative 3D Structure on P13533
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologGenome BrowserNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD Ensembl  
Protein SequenceProtein Sequence Protein Sequence  
AlignmentAlignment Alignment  

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000146 microfilament motor activity
GO:0000166 nucleotide binding
GO:0003774 motor activity
GO:0003777 microtubule motor activity
GO:0003779 actin binding
GO:0005516 calmodulin binding
GO:0005524 ATP binding
GO:0008017 microtubule binding
GO:0016887 ATPase activity
GO:0017018 myosin phosphatase activity
GO:0019901 protein kinase binding
GO:0030898 actin-dependent ATPase activity
GO:0051015 actin filament binding

Biological Process:
GO:0001701 in utero embryonic development
GO:0002026 regulation of the force of heart contraction
GO:0002027 regulation of heart rate
GO:0006470 protein dephosphorylation
GO:0006936 muscle contraction
GO:0006941 striated muscle contraction
GO:0007018 microtubule-based movement
GO:0007512 adult heart development
GO:0007522 visceral muscle development
GO:0008016 regulation of heart contraction
GO:0008217 regulation of blood pressure
GO:0014898 cardiac muscle hypertrophy in response to stress
GO:0030048 actin filament-based movement
GO:0030049 muscle filament sliding
GO:0030239 myofibril assembly
GO:0030509 BMP signaling pathway
GO:0043462 regulation of ATPase activity
GO:0045214 sarcomere organization
GO:0046034 ATP metabolic process
GO:0048739 cardiac muscle fiber development
GO:0055009 atrial cardiac muscle tissue morphogenesis
GO:0055010 ventricular cardiac muscle tissue morphogenesis
GO:0060048 cardiac muscle contraction
GO:0060070 canonical Wnt signaling pathway
GO:0060420 regulation of heart growth

Cellular Component:
GO:0001725 stress fiber
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0005859 muscle myosin complex
GO:0016459 myosin complex
GO:0030016 myofibril
GO:0030017 sarcomere
GO:0030018 Z disc
GO:0032982 myosin filament


-  Descriptions from all associated GenBank mRNAs
  AF056928 - Homo sapiens alpha myosin heavy chain mRNA, partial cds and 3' untranslated region.
M21664 - Human alpha-myosin heavy chain mRNA, 3' end.
BC132667 - Homo sapiens myosin, heavy chain 6, cardiac muscle, alpha, mRNA (cDNA clone MGC:164298 IMAGE:40146689), complete cds.
JD305275 - Sequence 286299 from Patent EP1572962.
D00943 - Homo sapiens mRNA for cardiac alpha-myosin heavy chain, complete cds.
JD519773 - Sequence 500797 from Patent EP1572962.
BC117511 - Homo sapiens myosin, heavy chain 6, cardiac muscle, alpha, mRNA (cDNA clone IMAGE:40005027), partial cds.
AK309494 - Homo sapiens cDNA, FLJ99535.
X56181 - Human cardiac alpha-MHC mRNA for cardiac alpha-myosin heavy chain (exons 1-3).
JD382864 - Sequence 363888 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04260 - Cardiac muscle contraction
hsa04530 - Tight junction
hsa05410 - Hypertrophic cardiomyopathy (HCM)
hsa05414 - Dilated cardiomyopathy
hsa05416 - Viral myocarditis

Reactome (by CSHL, EBI, and GO)

Protein P13533 (Reactome details) participates in the following event(s):

R-HSA-390595 Calcium Binds Troponin-C
R-HSA-390598 Myosin Binds ATP
R-HSA-390597 Release Of ADP From Myosin
R-HSA-390593 ATP Hydrolysis By Myosin
R-HSA-390522 Striated Muscle Contraction
R-HSA-397014 Muscle contraction

-  Other Names for This Gene
  Alternate Gene Symbols: A2RTX1, ENST00000405093.1, ENST00000405093.2, ENST00000405093.3, ENST00000405093.4, ENST00000405093.5, ENST00000405093.6, ENST00000405093.7, ENST00000405093.8, MYH6_HUMAN, MYHCA, NM_002471, P13533, Q13943, Q14906, Q14907, uc001wjv.1, uc001wjv.2, uc001wjv.3, uc001wjv.4, uc001wjv.5
UCSC ID: ENST00000405093.9
RefSeq Accession: NM_002471
Protein: P13533 (aka MYH6_HUMAN)
CCDS: CCDS9600.1

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene MYH6:
dcm-ov (Dilated Cardiomyopathy Overview)
hyper-card (Hypertrophic Cardiomyopathy Overview)

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.