Human Gene MYH2 (ENST00000245503.10) from GENCODE V44
Description: Homo sapiens myosin heavy chain 2 (MYH2), transcript variant 1, mRNA. (from RefSeq NM_017534) RefSeq Summary (NM_017534): 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]. Gencode Transcript: ENST00000245503.10 Gencode Gene: ENSG00000125414.19 Transcript (Including UTRs) Position: hg38 chr17:10,521,148-10,549,658 Size: 28,511 Total Exon Count: 40 Strand: - Coding Region Position: hg38 chr17:10,521,280-10,547,920 Size: 26,641 Coding Exon Count: 38
ID:MYH2_HUMAN DESCRIPTION: RecName: Full=Myosin-2; AltName: Full=Myosin heavy chain 2; AltName: Full=Myosin heavy chain 2a; Short=MyHC-2a; AltName: Full=Myosin heavy chain IIa; Short=MyHC-IIa; AltName: Full=Myosin heavy chain, skeletal muscle, adult 2; FUNCTION: Muscle contraction. Required for cytoskeleton organization (By similarity). 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). Interacts with GCSAM. 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 MYH2 are the cause of inclusion body myopathy type 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. 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-2 (MYO2).
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.
ModBase Predicted Comparative 3D Structure on Q9UKX2
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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.