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Myosins are actin-based motor proteins that function in the generation of mechanical force in eukaryotic cells. Muscle myosins are heterohexamers composed of 2 myosin heavy chains and 2 pairs of nonidentical myosin light chains. This gene encodes a member of the class II or conventional myosin heavy chains, and functions in skeletal muscle contraction. This gene is found in a cluster of myosin heavy chain genes on chromosome 17. A mutation in this gene results in inclusion body myopathy-3. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Sep 2009]
MYH2 (Myosin Heavy Chain 2) is a Protein Coding gene. Diseases associated with MYH2 include Myopathy, Proximal, With Ophthalmoplegia and Myopathy. Among its related pathways are amb2 Integrin signaling and Actin Nucleation by ARP-WASP Complex. Gene Ontology (GO) annotations related to this gene include actin binding and structural constituent of ribosome. An important paralog of this gene is MYH1.
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 |
---|---|---|---|---|---|---|---|---|---|---|
GH17J010548 | Promoter/Enhancer | 0.8 | EPDnew Ensembl ENCODE | 600.7 | +0.2 | 226 | 1.7 | ETS1 | MYH2 RF00017-2284 MYH1 RF00017-2283 L13304-016 MYHAS | |
GH17J010551 | Enhancer | 0.2 | Ensembl | 600.7 | -1.5 | -1501 | 0.4 | MYH2 piR-48209-271 RF00017-2283 L13304-016 MYH3 MYHAS | ||
GH17J010573 | Enhancer | 0.2 | Ensembl | 12.5 | -23.9 | -23901 | 1.2 | MYH2 ENSG00000214970 piR-48209-271 RF00017-2283 L13304-016 MYH3 MYHAS | ||
GH17J010547 | Enhancer | 0.5 | Ensembl | 0.7 | +2.2 | 2199 | 0.2 | CREB1 PKNOX1 FOSL1 FOXP1 FOSL2 ATF3 FOS MEIS2 JUND | RF00017-2284 MYH2 MYH1 RF00017-2283 L13304-016 MYHAS | |
GH17J010612 | Promoter/Enhancer | 1.2 | Ensembl ENCODE dbSUPER | 0.2 | -64.2 | -64179 | 2.1 | CTCF PRDM10 ZNF300 REST RAD21 ZNF37A CEBPB ZNF491 NR2C2 ZBTB48 | MYH3 RF00017-2283 L13304-016 lnc-MYH3-2 ENSG00000214970 MYH2 MYHAS |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000146 | microfilament motor activity | TAS | 10388558 |
GO:0000166 | nucleotide binding | IEA | -- |
GO:0003774 | motor activity | IEA | -- |
GO:0003779 | actin binding | IEA | -- |
GO:0005515 | protein binding | IPI | 17823310 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005737 | cytoplasm | IEA | -- |
GO:0005829 | cytosol | TAS | -- |
GO:0005859 | muscle myosin complex | TAS | 10388558 |
GO:0005911 | cell-cell junction | IMP | 25753039 |
GO:0016459 | myosin complex | IEA | -- |
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 | Actin Nucleation by ARP-WASP Complex |
Actin Nucleation by ARP-WASP Complex
.66
|
RhoA Pathway
.35
|
4 | RhoGDI Pathway |
Fc-GammaR-Mediated Phagocytosis in Macrophages
.33
|
RhoGDI Pathway
.33
|
5 | Regulation of actin dynamics for phagocytic cup formation |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006936 | muscle contraction | TAS | 10388558 |
GO:0030049 | muscle filament sliding | NAS | 3904738 |
GO:0038096 | Fc-gamma receptor signaling pathway involved in phagocytosis | TAS | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
(R)-(+)-Blebbistatin | Pharma | non-muscle myosin II ATPases inhibitor, cell-permeable, Selective inhibitor of myosin II ATPase activity. Inactive enantiomer of (+-)-blebbistatin (Cat. No. 1760) | 0 | |||
BTS | Pharma | Selective inhibitor of skeletal muscle myosin II ATPase activity | 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 |
ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b | ^ | 6a | · | 6b | · | 6c | ^ | 7 | ^ | 8 | ^ | 9a | · | 9b | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16 | ^ | 17 | ^ | 18 | ^ | 19 | ^ | 20a | · | 20b | ^ | 21a | · |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP2: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP3: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP4: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP5: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP6: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP7: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP8: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP9: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP10: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP11: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP12: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP13: |
ExUns: | 21b | ^ | 22 | ^ | 23 | ^ | 24a | · | 24b | ^ | 25 | ^ | 26 | ^ | 27 | ^ | 28 | ^ | 29 | ^ | 30 | ^ | 31a | · | 31b | · | 31c | ^ | 32 | ^ | 33 | ^ | 34 | ^ | 35 | ^ | 36 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | |||||||||||||||||||||||||||||||||||||
SP2: | |||||||||||||||||||||||||||||||||||||
SP3: | |||||||||||||||||||||||||||||||||||||
SP4: | |||||||||||||||||||||||||||||||||||||
SP5: | |||||||||||||||||||||||||||||||||||||
SP6: | |||||||||||||||||||||||||||||||||||||
SP7: | |||||||||||||||||||||||||||||||||||||
SP8: | |||||||||||||||||||||||||||||||||||||
SP9: | |||||||||||||||||||||||||||||||||||||
SP10: | |||||||||||||||||||||||||||||||||||||
SP11: | |||||||||||||||||||||||||||||||||||||
SP12: | |||||||||||||||||||||||||||||||||||||
SP13: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | MYH2 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
ManyToMany | |
-- 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany | |||
Cow (Bos Taurus) |
Mammalia | MYH2 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | MYH2 30 |
|
||
Rat (Rattus norvegicus) |
Mammalia | Myh2 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Myh2 30 17 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | -- 31 |
|
ManyToMany | |
MYH1B 30 |
|
||||
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.4295 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | Mhc 32 |
|
|
|
Prm 32 |
|
|
|||
Worm (Caenorhabditis elegans) |
Secernentea | F58G4.1 32 |
|
|
|
myo-3 32 |
|
|
|||
F45G2.2 32 |
|
|
|||
Y11D7A.14 32 |
|
|
|||
hcp-1 32 |
|
|
SNP ID | Clinical significance and condition | Chr 17 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
636251 | Likely Pathogenic: Myopathy, proximal, and ophthalmoplegia | 10,523,089(-) | C/G | SPLICE_DONOR_VARIANT | |
639121 | Uncertain Significance: Myopathy, proximal, and ophthalmoplegia | 10,527,765(-) | C/T | MISSENSE_VARIANT | |
639223 | Uncertain Significance: Myopathy, proximal, and ophthalmoplegia | 10,526,683(-) | G/A | MISSENSE_VARIANT | |
639473 | Uncertain Significance: Myopathy, proximal, and ophthalmoplegia | 10,529,152(-) | A/AGTCTTACTTGCAA | INTRON_VARIANT | |
639702 | Uncertain Significance: Myopathy, proximal, and ophthalmoplegia | 10,523,590(-) | T/G | MISSENSE_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
myopathy, proximal, with ophthalmoplegia |
|
|
myopathy |
|
|
aspiration pneumonia |
|
|
hyaline body myopathy |
|
|
arthrogryposis, distal, type 5 |
|
|