Property Summary

NCBI Gene PubMed Count 44
Grant Count 227
R01 Count 147
Funding $30,906,571.11
PubMed Score 872.35
PubTator Score 244.08

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (3)

Disease log2 FC p
type II diabetes mellitus and post-ische... -1.400 0.045
acute quadriplegic myopathy -1.662 0.000
psoriasis -1.600 0.007

Synonym

Accession P13533 A2RTX1 D9YZU2 Q13943 Q14906 Q14907
Symbols ASD3
MYHC
SSS3
CMH14
MYHCA
CMD1EE
alpha-MHC

Gene

Gene RIF (22)

PMID Text
26085007 Data show that compound heterozygosity for recessive myosin heavy chain 6 (MYH6) mutations in patients with hypoplastic left heart and reduced systemic right ventricular ejection fraction.
25937279 human alpha- and beta-cardiac myosin, as well as the mutants, show opposite mechanical and enzymatic phenotypes with respect to each other.
25717017 The novel MYH6 mutation delE933 causes both structural damage of the sarcomere and functional impairments on atrial action propagation.
24224850 Data from molecular dynamic/docking simulations suggest that actin-myosin binding free energy accepts contributions from both electrostatic and nonpolar forces; studies compare cardiac alpha-myosin, beta-myosin, and fast skeletal muscle myosin.
22627578 R1165C mutation in MYH9 gene is associated with macroscopic hematuria and presenile cataract.
22194935 Perturbations in the MYH6 head domain seem to play a major role in the genetic origin of familial Secundum-type atrial septal defects.
21436590 the alpha-isoform of myosin heavy chain is the pathogenic autoantigen for CD4+ T cells in myocarditis
21378987 the lifetime risk of being diagnosed with sick sinus syndrome is around 6% for non-carriers of c.2161C>T but is approximately 50% for carriers of the c.2161C>T variant
20656787 data indicate that functional variants of MYH6 are associated with cardiac malformations in addition to atrial septal defect and provide a novel potential mechanism
20656787 Observational study of gene-disease association. (HuGE Navigator)
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AA Sequence

MTDAQMADFGAAAQYLRKSEKERLEAQTRPFDIRTECFVPDDKEEFVKAKILSREGGKVIAETENGKTVT      1 - 70
VKEDQVLQQNPPKFDKIEDMAMLTFLHEPAVLFNLKERYAAWMIYTYSGLFCVTVNPYKWLPVYNAEVVA     71 - 140
AYRGKKRSEAPPHIFSISDNAYQYMLTDRENQSILITGESGAGKTVNTKRVIQYFASIAAIGDRGKKDNA    141 - 210
NANKGTLEDQIIQANPALEAFGNAKTVRNDNSSRFGKFIRIHFGATGKLASADIETYLLEKSRVIFQLKA    211 - 280
ERNYHIFYQILSNKKPELLDMLLVTNNPYDYAFVSQGEVSVASIDDSEELMATDSAFDVLGFTSEEKAGV    281 - 350
YKLTGAIMHYGNMKFKQKQREEQAEPDGTEDADKSAYLMGLNSADLLKGLCHPRVKVGNEYVTKGQSVQQ    351 - 420
VYYSIGALAKAVYEKMFNWMVTRINATLETKQPRQYFIGVLDIAGFEIFDFNSFEQLCINFTNEKLQQFF    421 - 490
NHHMFVLEQEEYKKEGIEWTFIDFGMDLQACIDLIEKPMGIMSILEEECMFPKATDMTFKAKLYDNHLGK    491 - 560
SNNFQKPRNIKGKQEAHFSLIHYAGTVDYNILGWLEKNKDPLNETVVALYQKSSLKLMATLFSSYATADT    561 - 630
GDSGKSKGGKKKGSSFQTVSALHRENLNKLMTNLRTTHPHFVRCIIPNERKAPGVMDNPLVMHQLRCNGV    631 - 700
LEGIRICRKGFPNRILYGDFRQRYRILNPVAIPEGQFIDSRKGTEKLLSSLDIDHNQYKFGHTKVFFKAG    701 - 770
LLGLLEEMRDERLSRIITRMQAQARGQLMRIEFKKIVERRDALLVIQWNIRAFMGVKNWPWMKLYFKIKP    771 - 840
LLKSAETEKEMATMKEEFGRIKETLEKSEARRKELEEKMVSLLQEKNDLQLQVQAEQDNLNDAEERCDQL    841 - 910
IKNKIQLEAKVKEMNERLEDEEEMNAELTAKKRKLEDECSELKKDIDDLELTLAKVEKEKHATENKVKNL    911 - 980
TEEMAGLDEIIAKLTKEKKALQEAHQQALDDLQVEEDKVNSLSKSKVKLEQQVDDLEGSLEQEKKVRMDL    981 - 1050
ERAKRKLEGDLKLTQESIMDLENDKLQLEEKLKKKEFDINQQNSKIEDEQVLALQLQKKLKENQARIEEL   1051 - 1120
EEELEAERTARAKVEKLRSDLSRELEEISERLEEAGGATSVQIEMNKKREAEFQKMRRDLEEATLQHEAT   1121 - 1190
AAALRKKHADSVAELGEQIDNLQRVKQKLEKEKSEFKLELDDVTSNMEQIIKAKANLEKVSRTLEDQANE   1191 - 1260
YRVKLEEAQRSLNDFTTQRAKLQTENGELARQLEEKEALISQLTRGKLSYTQQMEDLKRQLEEEGKAKNA   1261 - 1330
LAHALQSARHDCDLLREQYEEETEAKAELQRVLSKANSEVAQWRTKYETDAIQRTEELEEAKKKLAQRLQ   1331 - 1400
DAEEAVEAVNAKCSSLEKTKHRLQNEIEDLMVDVERSNAAAAALDKKQRNFDKILAEWKQKYEESQSELE   1401 - 1470
SSQKEARSLSTELFKLKNAYEESLEHLETFKRENKNLQEEISDLTEQLGEGGKNVHELEKVRKQLEVEKL   1471 - 1540
ELQSALEEAEASLEHEEGKILRAQLEFNQIKAEIERKLAEKDEEMEQAKRNHQRVVDSLQTSLDAETRSR   1541 - 1610
NEVLRVKKKMEGDLNEMEIQLSHANRMAAEAQKQVKSLQSLLKDTQIQLDDAVRANDDLKENIAIVERRN   1611 - 1680
NLLQAELEELRAVVEQTERSRKLAEQELIETSERVQLLHSQNTSLINQKKKMESDLTQLQSEVEEAVQEC   1681 - 1750
RNAEEKAKKAITDAAMMAEELKKEQDTSAHLERMKKNMEQTIKDLQHRLDEAEQIALKGGKKQLQKLEAR   1751 - 1820
VRELEGELEAEQKRNAESVKGMRKSERRIKELTYQTEEDKKNLLRLQDLVDKLQLKVKAYKRQAEEAEEQ   1821 - 1890
ANTNLSKFRKVQHELDEAEERADIAESQVNKLRAKSRDIGAKQKMHDEE                        1891 - 1939
//

Text Mined References (44)

PMID Year Title
26085007 2015 Recessive MYH6 Mutations in Hypoplastic Left Heart With Reduced Ejection Fraction.
25937279 2015 Ensemble force changes that result from human cardiac myosin mutations and a small-molecule effector.
25717017 2015 Novel mutation in the ?-myosin heavy chain gene is associated with sick sinus syndrome.
24224850 2013 All-atom molecular dynamics simulations of actin-myosin interactions: a comparative study of cardiac ? myosin, ? myosin, and fast skeletal muscle myosin.
23583979 2013 Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders.
23183192 2013 Common genetic variation near the connexin-43 gene is associated with resting heart rate in African Americans: a genome-wide association study of 13,372 participants.
22627578 2012 MYH9-related disorders: report on a patient of Greek origin presenting with macroscopic hematuria and presenile cataract, caused by an R1165C mutation.
22194935 2011 Cardiac alpha-myosin (MYH6) is the predominant sarcomeric disease gene for familial atrial septal defects.
21436590 2011 Impaired thymic tolerance to ?-myosin directs autoimmunity to the heart in mice and humans.
21378987 2011 A rare variant in MYH6 is associated with high risk of sick sinus syndrome.
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