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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]
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.
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.
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 |
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 | -- |
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 |
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 | ||
4 | Dilated cardiomyopathy (DCM) | ||
5 | Actin Nucleation by ARP-WASP Complex |
Actin Nucleation by ARP-WASP Complex
.66
|
RhoA Pathway
.35
|
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 |
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 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
(+-)-Blebbistatin |
|
674289-55-5 |
|
|
||
(S)-(-)-Blebbistatin |
|
856925-71-8 |
|
|
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 |
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 |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | MYH6 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | MYH7 31 |
|
OneToOne | |
MYH6 30 |
|
||||
Rat (Rattus norvegicus) |
Mammalia | Myh6 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Myh6 30 17 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | MYH6 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | MYH6 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | MYH15 30 |
|
||
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | myh6 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | si:ch211-24n20.3 31 |
|
ManyToMany | |
smyhc3 31 |
|
ManyToMany | |||
CR450736.2 31 |
|
ManyToMany | |||
CU633479.5 31 |
|
ManyToMany | |||
CU633479.6 31 |
|
ManyToMany | |||
smyhc2 31 |
|
ManyToMany | |||
vmhc 31 |
|
ManyToMany | |||
vmhcl 31 |
|
ManyToMany | |||
smyhc1 31 |
|
ManyToMany | |||
myh6 30 31 |
|
ManyToMany | |||
Fruit Fly (Drosophila melanogaster) |
Insecta | Mhc 32 |
|
|
|
Prm 32 |
|
|
|||
Worm (Caenorhabditis elegans) |
Secernentea | myo-3 32 |
|
|
|
F58G4.1 32 |
|
|
|||
F45G2.2 32 |
|
|
|||
Y11D7A.14 32 |
|
|
|||
hcp-1 32 |
|
|
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 |
Disorder | Aliases | PubMed IDs |
---|---|---|
atrial septal defect 3 |
|
|
cardiomyopathy, dilated, 1ee |
|
|
sick sinus syndrome 3 |
|
|
cardiomyopathy, familial hypertrophic, 14 |
|
|
heart disease |
|