Homo sapiens Protein: MYH2
Summary
InnateDB Protein IDBP-30435.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol MYH2
Protein Name myosin, heavy chain 2, skeletal muscle, adult
Synonyms IBM3; MYH2A; MYHas8; MyHC-2A; MyHC-IIa; MYHSA2;
Species Homo sapiens
Ensembl Protein ENSP00000245503
InnateDB Gene IDBG-30433 (MYH2)
Protein Structure
UniProt Annotation
Function Muscle contraction. Required for cytoskeleton organization (By similarity). {ECO:0000250}.
Subcellular Localization Cytoplasm, myofibril. Note=Thick filaments of the myofibrils.
Disease Associations Inclusion body myopathy 3 (IBM3) [MIM:605637]: Hereditary inclusion body myopathies constitute a group of neuromuscular disorders characterized by slowly progressive distal and proximal weakness and a typical muscle pathology including rimmed vacuoles and filamentous inclusions. IBM3 is a variant of hereditary inclusion body myopathies and is characterized by autosomal dominant myopathy with joint contracture, ophthalmoplegia and rimmed vacuoles. Morphological analysis of muscle biopsies from patients indicate that the type 2A fibers frequently were abnormal, whereas other fiber types appeared normal. {ECO:0000269PubMed:11114175}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 10 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated
Total 10 [view]
Protein-Protein 10 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 1 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0000146 microfilament motor activity
GO:0003735 structural constituent of ribosome
GO:0003774 motor activity
GO:0003779 actin binding
GO:0005515 protein binding
GO:0005516 calmodulin binding
GO:0005524 ATP binding
Biological Process
GO:0001778 plasma membrane repair
GO:0006412 translation
GO:0006936 muscle contraction
GO:0008152 metabolic process
GO:0014823 response to activity
GO:0016192 vesicle-mediated transport
GO:0030049 muscle filament sliding
GO:0038096 Fc-gamma receptor signaling pathway involved in phagocytosis
GO:0045087 innate immune response
GO:0061024 membrane organization
GO:0070252 actin-mediated cell contraction
Cellular Component
GO:0005622 intracellular
GO:0005794 Golgi apparatus
GO:0005826 actomyosin contractile ring
GO:0005829 cytosol
GO:0005840 ribosome
GO:0005859 muscle myosin complex
GO:0005911 cell-cell junction
GO:0016020 membrane
GO:0016459 myosin complex
GO:0030016 myofibril
GO:0030017 sarcomere
GO:0031672 A band
GO:0032982 myosin filament
GO:0043234 protein complex
Protein Structure and Domains
PDB ID
InterPro IPR000048 IQ motif, EF-hand binding site
IPR001609 Myosin head, motor domain
IPR001854 Ribosomal protein L29
IPR002928 Myosin tail
IPR004009 Myosin, N-terminal, SH3-like
IPR009053 Prefoldin
IPR010989 t-SNARE
IPR027417 P-loop containing nucleoside triphosphate hydrolase
PFAM PF00612
PF00063
PF00831
PF01576
PF02736
PRINTS PR00193
PIRSF
SMART SM00015
SM00242
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q9UKX2
PhosphoSite PhosphoSite-Q9UKX2
TrEMBL J3QLR0
UniProt Splice Variant
Entrez Gene 4620
UniGene Hs.667534
RefSeq NP_060004
HUGO HGNC:7572
OMIM 160740
CCDS CCDS11156
HPRD 01173
IMGT
EMBL AC005323 AF111784 BC126409 BX510904 S73840 Z32858
GenPept AAC13916 AAD29950 AAI26410 CAA83687 CAD91136