Human Gene MYH8 (ENST00000403437.2) from GENCODE V44
Description: Homo sapiens myosin heavy chain 8 (MYH8), mRNA. (from RefSeq NM_002472) RefSeq Summary (NM_002472): 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 predominantly expressed in fetal skeletal muscle. This gene is found in a cluster of myosin heavy chain genes on chromosome 17. A mutation in this gene results in trismus-pseudocamptodactyly syndrome. [provided by RefSeq, Sep 2009]. Gencode Transcript: ENST00000403437.2 Gencode Gene: ENSG00000133020.4 Transcript (Including UTRs) Position: hg38 chr17:10,390,322-10,421,950 Size: 31,629 Total Exon Count: 40 Strand: - Coding Region Position: hg38 chr17:10,390,454-10,420,227 Size: 29,774 Coding Exon Count: 38
ID:MYH8_HUMAN DESCRIPTION: RecName: Full=Myosin-8; AltName: Full=Myosin heavy chain 8; AltName: Full=Myosin heavy chain, skeletal muscle, perinatal; Short=MyHC-perinatal; 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 MYH8 are a cause of Carney complex variant (CACOV) [MIM:608837]. Carney complex is a multiple neoplasia syndrome characterized by spotty skin pigmentation, cardiac and other myxomas, endocrine tumors, and psammomatous melanotic schwannomas. Familial cardiac myxomas are associated with spotty pigmentation of the skin and other phenotypes, including primary pigmented nodular adrenocortical dysplasia, extracardiac (frequently cutaneous) myxomas, schwannomas, and pituitary, thyroid, testicular, bone, ovarian, and breast tumors. Cardiac myxomas do not develop in all patients with the Carney complex, but affected patients have at least two features of the complex or one feature and a clinically significant family history. DISEASE: Defects in MYH8 are a cause of distal arthrogryposis type (DA7) [MIM:158300]. A hereditary distal arthrogryposis characterized by an inability to open the mouth fully (trismus) and pseudocamptodactyly in which wrist dorsiflexion, but not volarflexion, produces involuntary flexion contracture of distal and proximal interphalangeal joints. Such hand and jaw contractures are caused by shortened flexor muscle-tendon units. Similar lower-limb contractures also produce foot deformity. The trismus-pseudocamptodactyly syndrome is a morbid autosomal dominant trait with variable expressivity but high penetrance. In these patients, trismus complicates dental care, feeding during infancy, and intubation for anesthesia, and the pseudocamptodactyly impairs manual dexterity, with consequent occupational and social disability. Many patients require surgical correction of contractures. SIMILARITY: Contains 1 IQ domain. SIMILARITY: Contains 1 myosin head-like domain. WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/MYH8";
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 P13535
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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.
US Server
