Property Summary

NCBI Gene PubMed Count 41
PubMed Score 105.87
PubTator Score 69.01

Knowledge Summary

Patent

No data available

TINX Plot

Expression

  Differential Expression (2)

Disease log2 FC p
acute quadriplegic myopathy -1.148 1.2e-05
psoriasis -2.300 8.9e-13

Gene RIF (21)

PMID Text
26059207 Transcriptional levels of MHC-I, MHC-IIa, and MHC-IIb in denervation groups were significantly down-regulated compared with controls
25567808 Myosin isoforms impact single-fiber force generation and may lead to alterations in whole skeletal muscle performance.
25529940 MYH2MYH2MYH2v
24781731 We have found that a greater MyH2 content in the vastus lateralis is accompanied by a higher oxygen cost of cycling during exercise performed below the lactate threshold.
24193343 Data shoe that five of the patients were homozygous for myosin heavy chain 2 (MYH2) missense mutations, one patient was compound heterozygous for a missense and a nonsense mutation and one patient was homozygous for a frame-shift MYH2 mutation.
23388406 This study presented more case in MYH2 mutation in recessive myopathy with external ophthalmoplegia linked to chromosome 17p13.1-p12.
23361003 A previously unrecognized interplay between actin and myosin IIA in podosomes, is demonstrated.
23190566 Myosin heavy chain 2A transcripts decreased significantly in skeletal muscle tissue from overnight parenterally fed patients but did not change significantly in orally refed mice
22960022 Phenotypic expression of alpha-smooth muscle actin, smooth muscle myosin heavy chain 2, and smoothelin were significantly decreased in the dissected media, whereas that of osteopontin was elevated.
22349865 This study demonistrated that the missense mutation c.2542T>C (p.V805A) in the MYHC2A gene.
22337492 The human genioglossus muscle is composed of conventional myosin heavy chain isoforms and 3 primary myosin hevy chain phenotypes.
21470888 the expression levels of the MHC genes are associated with age and both PGC-1alpha and PGC-1beta and indicate that the MHC genes may to some extent be used to determine fibre-type composition in human skeletal muscle.
21102503 NMMII and actin isoform expression changes coordinately with the remodeling phase of repair, and NMMII is increased as matrix stiffness increases. As NMMII expression increases, so does the fibroblast contractility.
20418530 Null mutations in the fast myosin heavy chain IIa gene cause early onset myopathy and demonstrate that this isoform is necessary for normal muscle development and function.
20357587 Observational study of gene-disease association. (HuGE Navigator)
18495866 myosin II has a role in glioma invasion of the brain
17005402 Our results provide evidence that the pathogenesis of the MyHC IIa E706K myopathy involves defective function of the mutated myosin as well as alterations in the structural integrity of all muscle cells irrespective of MyHC isoform expression.
15741996 analysis of normal variation indicates that there is strong selective pressure against mutations in MYH2; On the basis of these results, we suggest that MyHC genes should be regarded as candidate genes in hereditary myopathies of unknown etiology.
15496418 IRF-2 is involved in up-regulation of nonmuscle myosin heavy chain II-A gene expression in cell differentiation
12235157 Data suggest that changes in intracellular calcium may play a role in shifts in myosin heavy chain IIa (MyHC IIa) expression during muscle activation.
11889243 investigated the relation between expression of the mutant MyHC IIa and pathologic changes in muscle

AA Sequence

MSSDSELAVFGEAAPFLRKSERERIEAQNRPFDAKTSVFVAEPKESFVKGTIQSREGGKVTVKTEGGATL      1 - 70
TVKDDQVFPMNPPKYDKIEDMAMMTHLHEPAVLYNLKERYAAWMIYTYSGLFCVTVNPYKWLPVYKPEVV     71 - 140
TAYRGKKRQEAPPHIFSISDNAYQFMLTDRENQSILITGESGAGKTVNTKRVIQYFATIAVTGEKKKEEI    141 - 210
TSGKIQGTLEDQIISANPLLEAFGNAKTVRNDNSSRFGKFIRIHFGTTGKLASADIETYLLEKSRVVFQL    211 - 280
KAERSYHIFYQITSNKKPELIEMLLITTNPYDYPFVSQGEISVASIDDQEELMATDSAIDILGFTNEEKV    281 - 350
SIYKLTGAVMHYGNLKFKQKQREEQAEPDGTEVADKAAYLQSLNSADLLKALCYPRVKVGNEYVTKGQTV    351 - 420
EQVSNAVGALAKAVYEKMFLWMVARINQQLDTKQPRQYFIGVLDIAGFEIFDFNSLEQLCINFTNEKLQQ    421 - 490
FFNHHMFVLEQEEYKKEGIEWTFIDFGMDLAACIELIEKPMGIFSILEEECMFPKATDTSFKNKLYDQHL    491 - 560
GKSANFQKPKVVKGKAEAHFALIHYAGVVDYNITGWLEKNKDPLNETVVGLYQKSAMKTLAQLFSGAQTA    561 - 630
EGEGAGGGAKKGGKKKGSSFQTVSALFRENLNKLMTNLRSTHPHFVRCIIPNETKTPGAMEHELVLHQLR    631 - 700
CNGVLEGIRICRKGFPSRILYADFKQRYKVLNASAIPEGQFIDSKKASEKLLASIDIDHTQYKFGHTKVF    701 - 770
FKAGLLGLLEEMRDDKLAQLITRTQARCRGFLARVEYQRMVERREAIFCIQYNIRSFMNVKHWPWMKLFF    771 - 840
KIKPLLKSAETEKEMATMKEEFQKIKDELAKSEAKRKELEEKMVTLLKEKNDLQLQVQAEAEGLADAEER    841 - 910
CDQLIKTKIQLEAKIKEVTERAEDEEEINAELTAKKRKLEDECSELKKDIDDLELTLAKVEKEKHATENK    911 - 980
VKNLTEEMAGLDETIAKLTKEKKALQEAHQQTLDDLQAEEDKVNTLTKAKIKLEQQVDDLEGSLEQEKKL    981 - 1050
RMDLERAKRKLEGDLKLAQESIMDIENEKQQLDEKLKKKEFEISNLQSKIEDEQALGIQLQKKIKELQAR   1051 - 1120
IEELEEEIEAERASRAKAEKQRSDLSRELEEISERLEEAGGATSAQIEMNKKREAEFQKMRRDLEEATLQ   1121 - 1190
HEATAATLRKKHADSVAELGEQIDNLQRVKQKLEKEKSEMKMEIDDLASNVETVSKAKGNLEKMCRTLED   1191 - 1260
QLSELKSKEEEQQRLINDLTAQRGRLQTESGEFSRQLDEKEALVSQLSRGKQAFTQQIEELKRQLEEEIK   1261 - 1330
AKNALAHALQSSRHDCDLLREQYEEEQESKAELQRALSKANTEVAQWRTKYETDAIQRTEELEEAKKKLA   1331 - 1400
QRLQAAEEHVEAVNAKCASLEKTKQRLQNEVEDLMLDVERTNAACAALDKKQRNFDKILAEWKQKCEETH   1401 - 1470
AELEASQKEARSLGTELFKIKNAYEESLDQLETLKRENKNLQQEISDLTEQIAEGGKRIHELEKIKKQVE   1471 - 1540
QEKCELQAALEEAEASLEHEEGKILRIQLELNQVKSEVDRKIAEKDEEIDQLKRNHIRIVESMQSTLDAE   1541 - 1610
IRSRNDAIRLKKKMEGDLNEMEIQLNHANRMAAEALRNYRNTQGILKDTQIHLDDALRSQEDLKEQLAMV   1611 - 1680
ERRANLLQAEIEELRATLEQTERSRKIAEQELLDASERVQLLHTQNTSLINTKKKLETDISQMQGEMEDI   1681 - 1750
LQEARNAEEKAKKAITDAAMMAEELKKEQDTSAHLERMKKNMEQTVKDLQLRLDEAEQLALKGGKKQIQK   1751 - 1820
LEARVRELEGEVESEQKRNAEAVKGLRKHERRVKELTYQTEEDRKNILRLQDLVDKLQAKVKSYKRQAEE   1821 - 1890
AEEQSNTNLAKFRKLQHELEEAEERADIAESQVNKLRVKSREVHTKVISEE                      1891 - 1941
//

Text Mined References (43)

PMID Year Title
26059207 2015 Transition of myosin heavy chain isoforms in human laryngeal abductors following denervation.
25567808 2015 Molecular determinants of force production in human skeletal muscle fibers: effects of myosin isoform expression and cross-sectional area.
25529940 2015 Adult onset distal and proximal myopathy with complete ophthalmoplegia associated with a novel de novo p.(Leu1877Pro) mutation in MYH2.
24781731 2014 Myosin heavy chain composition in the vastus lateralis muscle in relation to oxygen uptake and heart rate during cycling in humans.
24193343 2014 Recessive myosin myopathy with external ophthalmoplegia associated with MYH2 mutations.
23388406 2013 MYH2 mutation in recessive myopathy with external ophthalmoplegia linked to chromosome 17p13.1-p12.
23361003 2013 Interplay between myosin IIA-mediated contractility and actin network integrity orchestrates podosome composition and oscillations.
23190566 2012 Myosin heavy chain 2A and ?-actin expression in human and murine skeletal muscles at feeding; particularly amino acids.
22960022 2012 Association of smooth muscle cell phenotypes with extracellular matrix disorders in thoracic aortic dissection.
22349865 2012 Clinical, pathological, and genetic mutation analysis of sporadic inclusion body myositis in Japanese people.
22337492 2012 Myosin heavy chain composition of the human genioglossus muscle.
21470888 2011 The expression of myosin heavy chain (MHC) genes in human skeletal muscle is related to metabolic characteristics involved in the pathogenesis of type 2 diabetes.
21102503 2011 Temporal spatial expression and function of non-muscle myosin II isoforms IIA and IIB in scar remodeling.
20418530 2010 Human disease caused by loss of fast IIa myosin heavy chain due to recessive MYH2 mutations.
20357587 Evaluation of embryonic and perinatal myosin gene mutations and the etiology of congenital idiopathic clubfoot.
18495866 2008 The role of myosin II in glioma invasion of the brain.
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
17974005 2007 The full-ORF clone resource of the German cDNA Consortium.
17823310 2007 HGAL, a lymphoma prognostic biomarker, interacts with the cytoskeleton and mediates the effects of IL-6 on cell migration.
17353931 2007 Large-scale mapping of human protein-protein interactions by mass spectrometry.
17005402 2006 Muscle cell and motor protein function in patients with a IIa myosin missense mutation (Glu-706 to Lys).
16625196 2006 DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
15741996 2005 Mutations and sequence variation in the human myosin heavy chain IIa gene (MYH2).
15496418 2004 IRF-2 is involved in up-regulation of nonmuscle myosin heavy chain II-A gene expression during phorbol ester-induced promyelocytic HL-60 differentiation.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
12756252 2003 Characterization of the metastasis-associated protein, S100A4. Roles of calcium binding and dimerization in cellular localization and interaction with myosin.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12235157 2002 Intracellular calcium and myosin isoform transitions. Calcineurin and calcium-calmodulin kinase pathways regulate preferential activation of the IIa myosin heavy chain promoter.
11897493 2002 PKC epsilon is associated with myosin IIA and actin in fibroblasts.
11256614 2000 Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing.
11114175 2000 Autosomal dominant myopathy: missense mutation (Glu-706 --> Lys) in the myosin heavy chain IIa gene.
10579056 1999 Effects of bone fracture and surgery on plasma myosin heavy chain fragments of skeletal muscle.
10388558 1999 Comparative sequence analysis of the complete human sarcomeric myosin heavy chain family: implications for functional diversity.
10205275 1999 Dominant hereditary inclusion-body myopathy gene (IBM3) maps to chromosome region 17p13.1.
10077619 1999 Organization of human and mouse skeletal myosin heavy chain gene clusters is highly conserved.
9730972 1998 Control of AMP deaminase 1 binding to myosin heavy chain.
9708547 1998 Autosomal dominant myopathy with congenital joint contractures, ophthalmoplegia, and rimmed vacuoles.
8145163 1993 Maximum velocity of shortening in relation to myosin isoform composition in single fibres from human skeletal muscles.
7751403 1995 Characterization of human skeletal muscle fibres according to the myosin heavy chains they express.
7545970 1994 Type IIx myosin heavy chain transcripts are expressed in type IIb fibers of human skeletal muscle.
3904738 1985 The myosin alkali light chain proteins and their genes.
2877813 1986 A polymorphic human myosin heavy chain locus is linked to an anonymous single copy locus (D17S1) at 17p13.