Property Summary

NCBI Gene PubMed Count 24
PubMed Score 45.58
PubTator Score 22.01

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (11)

Disease log2 FC p
malignant mesothelioma 1.900 8.7e-07
psoriasis -2.300 3.1e-42
osteosarcoma -2.130 2.9e-02
Duchenne muscular dystrophy 5.622 2.9e-13
X-linked recessive Emery-Dreifuss muscul... 2.747 1.1e-02
limb girdle muscular dystrophy 2B 4.550 1.3e-06
Becker muscular dystrophy 4.138 1.1e-05
juvenile dermatomyositis 3.539 2.3e-08
Amyotrophic Lateral Sclerosis 1.284 3.1e-03
acute quadriplegic myopathy 3.214 1.7e-05
diabetes mellitus -2.000 7.0e-03

Gene RIF (15)

PMID Text
26945064 MYH3 mutations are associated with Freeman-Sheldon Syndrome.
26544689 developmental p.Thr178Ile MYH3 myopathy is associated with a combined pathomechanism of insufficient dosage of functional embryonic MyHC and production of mutant protein
25957469 The phenotypic overlap among persons with MPS, coupled with physical findings distinct from other conditions caused by mutations in MYH3.
25740846 The embryonic myosin R672C mutation that underlies Freeman-Sheldon syndrome impairs cross-bridge detachment and cycling in adult skeletal muscle
22519952 Molecular genetic investigations revealed pathogenic mutations in MYH3, TPM2, and TNNI2 in one sporadic and 19 familial cases of distal arthrogryposis.
21862559 eMYH plays a crucial role in important processes in the early developing heart and, hence, is a candidate causative gene for atrial septal defects and cardiomyopathy.
21531865 Identification of an MYH3 mutation in this family with distal arthrogryposis type 1 broadens the phenotype associated with MYH3 mutations to include distal arthrogryposis types 1, 2A (Freeman-Sheldon syndrome), and 2B (Sheldon-Hall syndrome).
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)
19142688 Skeletal muscle contractile gene (TNNT3, MYH3, TPM2) mutations not found in vertical talus or clubfoot.
19142688 Observational study of gene-disease association. (HuGE Navigator)
18695058 This article reports novel MYH3 mutations associated with distal arthrogryposis and demonstrates myopathic changes in muscle biopsy specimens from 4 patients with distal arthrogryposis and MYH3 mutations.
18649358 Observational study of gene-disease association. (HuGE Navigator)
16642020 show that mutations in the embryonic myosin heavy chain 3 gene cause Freeman-Sheldon syndrome, one of the most severe multiple congenital contracture syndromes, and nearly 1/3 of all cases of Sheldon-Hall syndrome, the most common distal arthrogryposis

AA Sequence

MSSDTEMEVFGIAAPFLRKSEKERIEAQNQPFDAKTYCFVVDSKEEYAKGKIKSSQDGKVTVETEDNRTL      1 - 70
VVKPEDVYAMNPPKFDRIEDMAMLTHLNEPAVLYNLKDRYTSWMIYTYSGLFCVTVNPYKWLPVYNPEVV     71 - 140
EGYRGKKRQEAPPHIFSISDNAYQFMLTDRENQSILITGESGAGKTVNTKRVIQYFATIAATGDLAKKKD    141 - 210
SKMKGTLEDQIISANPLLEAFGNAKTVRNDNSSRFGKFIRIHFGTTGKLASADIETYLLEKSRVTFQLKA    211 - 280
ERSYHIFYQILSNKKPELIELLLITTNPYDYPFISQGEILVASIDDAEELLATDSAIDILGFTPEEKSGL    281 - 350
YKLTGAVMHYGNMKFKQKQREEQAEPDGTEVADKTAYLMGLNSSDLLKALCFPRVKVGNEYVTKGQTVDQ    351 - 420
VHHAVNALSKSVYEKLFLWMVTRINQQLDTKLPRQHFIGVLDIAGFEIFEYNSLEQLCINFTNEKLQQFF    421 - 490
NHHMFVLEQEEYKKEGIEWTFIDFGMDLAACIELIEKPMGIFSILEEECMFPKATDTSFKNKLYDQHLGK    491 - 560
SNNFQKPKVVKGRAEAHFSLIHYAGTVDYSVSGWLEKNKDPLNETVVGLYQKSSNRLLAHLYATFATADA    561 - 630
DSGKKKVAKKKGSSFQTVSALFRENLNKLMSNLRTTHPHFVRCIIPNETKTPGAMEHSLVLHQLRCNGVL    631 - 700
EGIRICRKGFPNRILYGDFKQRYRVLNASAIPEGQFIDSKKACEKLLASIDIDHTQYKFGHTKVFFKAGL    701 - 770
LGTLEEMRDDRLAKLITRTQAVCRGFLMRVEFQKMVQRRESIFCIQYNIRSFMNVKHWPWMKLFFKIKPL    771 - 840
LKSAETEKEMATMKEEFQKTKDELAKSEAKRKELEEKLVTLVQEKNDLQLQVQAESENLLDAEERCDQLI    841 - 910
KAKFQLEAKIKEVTERAEDEEEINAELTAKKRKLEDECSELKKDIDDLELTLAKVEKEKHATENKVKNLT    911 - 980
EELSGLDETIAKLTREKKALQEAHQQALDDLQAEEDKVNSLNKTKSKLEQQVEDLESSLEQEKKLRVDLE    981 - 1050
RNKRKLEGDLKLAQESILDLENDKQQLDERLKKKDFEYCQLQSKVEDEQTLGLQFQKKIKELQARIEELE   1051 - 1120
EEIEAERATRAKTEKQRSDYARELEELSERLEEAGGVTSTQIELNKKREAEFLKLRRDLEEATLQHEAMV   1121 - 1190
AALRKKHADSVAELGEQIDNLQRVKQKLEKEKSEFKLEIDDLSSSMESVSKSKANLEKICRTLEDQLSEA   1191 - 1260
RGKNEEIQRSLSELTTQKSRLQTEAGELSRQLEEKESIVSQLSRSKQAFTQQTEELKRQLEEENKAKNAL   1261 - 1330
AHALQSSRHDCDLLREQYEEEQEGKAELQRALSKANSEVAQWRTKYETDAIQRTEELEEAKKKLAQRLQD   1331 - 1400
SEEQVEAVNAKCASLEKTKQRLQGEVEDLMVDVERANSLAAALDKKQRNFDKVLAEWKTKCEESQAELEA   1401 - 1470
SLKESRSLSTELFKLKNAYEEALDQLETVKRENKNLEQEIADLTEQIAENGKTIHELEKSRKQIELEKAD   1471 - 1540
IQLALEEAEAALEHEEAKILRIQLELTQVKSEIDRKIAEKDEEIEQLKRNYQRTVETMQSALDAEVRSRN   1541 - 1610
EAIRLKKKMEGDLNEIEIQLSHANRQAAETLKHLRSVQGQLKDTQLHLDDALRGQEDLKEQLAIVERRAN   1611 - 1680
LLQAEVEELRATLEQTERARKLAEQELLDSNERVQLLHTQNTSLIHTKKKLETDLMQLQSEVEDASRDAR   1681 - 1750
NAEEKAKKAITDAAMMAEELKKEQDTSAHLERMKKNLEQTVKDLQHRLDEAEQLALKGGKKQIQKLETRI   1751 - 1820
RELEFELEGEQKKNTESVKGLRKYERRVKELTYQSEEDRKNVLRLQDLVDKLQVKVKSYKRQAEEADEQA   1821 - 1890
NAHLTKFRKAQHELEEAEERADIAESQVNKLRAKTRDFTSSRMVVHESEE                       1891 - 1940
//

Text Mined References (25)

PMID Year Title
26945064 2016 The Most Prevalent Freeman-Sheldon Syndrome Mutations in the Embryonic Myosin Motor Share Functional Defects.
26544689 2015 Developmental MYH3 Myopathy Associated with Expression of Mutant Protein and Reduced Expression Levels of Embryonic MyHC.
25957469 2015 Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3.
25740846 2015 The embryonic myosin R672C mutation that underlies Freeman-Sheldon syndrome impairs cross-bridge detachment and cycling in adult skeletal muscle.
24068947 2013 Common variants in left/right asymmetry genes and pathways are associated with relative hand skill.
22519952 2012 Distal arthrogryposis: clinical and genetic findings.
21862559 2011 Knockdown of embryonic myosin heavy chain reveals an essential role in the morphology and function of the developing heart.
21531865 2011 Exome sequencing identifies an MYH3 mutation in a family with distal arthrogryposis type 1.
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.
19142688 2009 Skeletal muscle contractile gene (TNNT3, MYH3, TPM2) mutations not found in vertical talus or clubfoot.
19056867 2009 Large-scale proteomics and phosphoproteomics of urinary exosomes.
18695058 2008 Embryonic myosin heavy-chain mutations cause distal arthrogryposis and developmental myosin myopathy that persists postnatally.
18649358 2008 Replication of a genome-wide case-control study of esophageal squamous cell carcinoma.
16642020 2006 Mutations in embryonic myosin heavy chain (MYH3) cause Freeman-Sheldon syndrome and Sheldon-Hall syndrome.
16625196 2006 DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage.
16579921 2006 Skeletal muscle heavy-chain polypeptide 3 and myosin binding protein H in the pubococcygeus muscle in patients with and without pelvic organ prolapse.
16368877 2006 Genomic annotation of 15,809 ESTs identified from pooled early gestation human eyes.
15342556 2004 Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions.
15203218 2004 Circular rapid amplification of cDNA ends for high-throughput extension cloning of partial genes.
2806546 1989 Human embryonic myosin heavy chain cDNA. Interspecies sequence conservation of the myosin rod, chromosomal locus and isoform specific transcription of the gene.
2771643 1989 Expression and DNA sequence analysis of a human embryonic skeletal muscle myosin heavy chain gene.
2726495 1989 Nucleotide sequence of full length human embryonic myosin heavy chain cDNA.
1691980 1990 Identification of three developmentally controlled isoforms of human myosin heavy chains.