Property Summary

NCBI Gene PubMed Count 16
Grant Count 26
R01 Count 8
Funding $3,257,816.34
PubMed Score 45.71
PubTator Score 18.83

Knowledge Summary

Patent

No data available

Expression

Gene RIF (7)

PMID Text
20949528 a family in which two out three sibs affected with trismus pseudocamptodactyly, born from healthy nonconsanguineous parents, were heterozygous for the c.2021G > A mutation due to a possible germline mosaicism in MYH8
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20357587 Observational study of gene-disease association. (HuGE Navigator)
19913121 Observational study of gene-disease association. (HuGE Navigator)
18049072 findings broaden the phenotype associated with p.R674Q mutations and support the use of MYH8 testing in patients with a clinical diagnosis of trimus-pseudocamptodactyly syndrome
17041932 haplotype analysis revealed that this mutation has arisen independently in North American and European TPS pedigrees
15282353 We describe a novel heart-hand syndrome involving familial cardiac myxomas and distal arthrogryposis and demonstrate that these disorders are caused by a founder mutation in the MYH8 gene.

AA Sequence

MSASSDAEMAVFGEAAPYLRKSEKERIEAQNKPFDAKTSVFVAEPKESYVKSTIQSKEGGKVTVKTEGGA      1 - 70
TLTVREDQVFPMNPPKYDKIEDMAMMTHLHEPGVLYNLKERYAAWMIYTYSGLFCVTVNPYKWLPVYKPE     71 - 140
VVAAYRGKKRQEAPPHIFSISDNAYQFMLTDRENQSILITGESGAGKTVNTKRVIQYFATIAVTGEKKKD    141 - 210
ESGKMQGTLEDQIISANPLLEAFGNAKTVRNDNSSRFGKFIRIHFGTTGKLASADIETYLLEKSRVTFQL    211 - 280
KAERSYHIFYQITSNKKPDLIEMLLITTNPYDYAFVSQGEITVPSIDDQEELMATDSAIDILGFTPEEKV    281 - 350
SIYKLTGAVMHYGNMKFKQKQREEQAEPDGTEVADKAAYLQSLNSADLLKALCYPRVKVGNEYVTKGQTV    351 - 420
QQVYNAVGALAKAVYEKMFLWMVTRINQQLDTKQPRQYFIGVLDIAGFEIFDFNSLEQLCINFTNEKLQQ    421 - 490
FFNHHMFVLEQEEYKKEGIEWTFIDFGMDLAACIELIEKPLGIFSILEEECMFPKATDTSFKNKLYDQHL    491 - 560
GKSANFQKPKVVKGKAEAHFSLIHYAGTVDYNITGWLDKNKDPLNDTVVGLYQKSAMKTLASLFSTYASA    561 - 630
EADSSAKKGAKKKGSSFQTVSALFRENLNKLMTNLRSTHPHFVRCIIPNETKTPGAMEHELVLHQLRCNG    631 - 700
VLEGIRICRKGFPSRILYGDFKQRYKVLNASAIPEGQFIDSKKASEKLLASIDIDHTQYKFGHTKVFFKA    701 - 770
GLLGLLEEMRDEKLAQIITRTQAVCRGFLMRVEYQKMLQRREALFCIQYNVRAFMNVKHWPWMKLFFKIK    771 - 840
PLLKSAETEKEMATMKEEFQKTKDELAKSEAKRKELEEKMVTLLKEKNDLQLQVQSEADSLADAEERCEQ    841 - 910
LIKNKIQLEAKIKEVTERAEEEEEINAELTAKKRKLEDECSELKKDIDDLELTLAKVEKEKHATENKVKN    911 - 980
LTEEMAGLDETIAKLSKEKKALQETHQQTLDDLQAEEDKVNILTKAKTKLEQQVDDLEGSLEQEKKLRMD    981 - 1050
LERAKRKLEGDLKLAQESTMDMENDKQQLDEKLEKKEFEISNLISKIEDEQAVEIQLQKKIKELQARIEE   1051 - 1120
LGEEIEAERASRAKAEKQRSDLSRELEEISERLEEAGGATSAQVELNKKREAEFQKLRRDLEEATLQHEA   1121 - 1190
MVAALRKKHADSMAELGEQIDNLQRVKQKLEKEKSELKMETDDLSSNAEAISKAKGNLEKMCRSLEDQVS   1191 - 1260
ELKTKEEEQQRLINDLTAQRARLQTEAGEYSRQLDEKDALVSQLSRSKQASTQQIEELKHQLEEETKAKN   1261 - 1330
ALAHALQSSRHDCDLLREQYEEEQEGKAELQRALSKANSEVAQWRTKYETDAIQRTEELEEAKKKLAQRL   1331 - 1400
QEAEEHVEAVNAKCASLEKTKQRLQNEVEDLMLDVERSNAACAALDKKQRNFDKVLSEWKQKYEETQAEL   1401 - 1470
EASQKESRSLSTELFKVKNVYEESLDQLETLRRENKNLQQEISDLTEQIAEGGKQIHELEKIKKQVEQEK   1471 - 1540
CEIQAALEEAEASLEHEEGKILRIQLELNQVKSEVDRKIAEKDEEIDQLKRNHTRVVETMQSTLDAEIRS   1541 - 1610
RNDALRVKKKMEGDLNEMEIQLNHANRLAAESLRNYRNTQGILKETQLHLDDALRGQEDLKEQLAIVERR   1611 - 1680
ANLLQAEIEELWATLEQTERSRKIAEQELLDASERVQLLHTQNTSLINTKKKLENDVSQLQSEVEEVIQE   1681 - 1750
SRNAEEKAKKAITDAAMMAEELKKEQDTSAHLERMKKNLEQTVKDLQHRLDEAEQLALKGGKKQIQKLEA   1751 - 1820
RVRELEGEVENEQKRNAEAVKGLRKHERRVKELTYQTEEDRKNVLRLQDLVDKLQAKVKSYKRQAEEAEE   1821 - 1890
QSNANLSKFRKLQHELEEAEERADIAESQVNKLRVKSREVHTKISAE                          1891 - 1937
//

Text Mined References (16)

PMID Year Title
21370490 2011 Characterization of human myoblast differentiation for tissue-engineering purposes by quantitative gene expression analysis.
20949528 2010 Germline mosaicism for the c.2021G?>?A (p.Arg674Gln) mutation in siblings with trismus pseudocamptodactyly.
20628086 2010 Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
20357587 Evaluation of embryonic and perinatal myosin gene mutations and the etiology of congenital idiopathic clubfoot.
19913121 2009 Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
18049072 2008 Phenotypic variation in trismus-pseudocamptodactyly syndrome caused by a recurrent MYH8 mutation.
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
17041932 2006 Trismus-pseudocamptodactyly syndrome is caused by recurrent mutation of MYH8.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
15282353 2004 Mutation of perinatal myosin heavy chain associated with a Carney complex variant.
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