Property Summary

NCBI Gene PubMed Count 41
Grant Count 44
R01 Count 22
Funding $6,589,987.19
PubMed Score 105.87
PubTator Score 69.01

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (2)

Disease log2 FC p
acute quadriplegic myopathy -1.148 0.000
psoriasis -2.300 0.000

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.
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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
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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.
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