Property Summary

NCBI Gene PubMed Count 12
PubMed Score 318.28
PubTator Score 53.26

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (7)

Disease log2 FC p
Duchenne muscular dystrophy 1.680 1.6e-08
limb girdle muscular dystrophy 2B 1.494 9.4e-05
Becker muscular dystrophy 1.179 4.4e-03
juvenile dermatomyositis 1.681 2.2e-05
acute quadriplegic myopathy 1.477 5.1e-05
lung adenocarcinoma 1.800 1.8e-04
psoriasis -1.200 1.9e-04

Gene RIF (5)

PMID Text
26969327 variation in MYBPH can modulate the severity of hypertrophy in hypertrophic cardiomyopathy patients.
24184715 MyBP-H expression signals the onset of dysregulation in actin-myosin interaction; this in turn might contribute to the pathogenesis of amyotrophic lateral sclerosis.
23068101 These results suggest that MYBPH inhibits RLC and NMHC IIA, independent components of NM IIA, and negatively regulates actomyosin organization at 2 distinct steps, resulting in firm inhibition of NM IIA assembly.
22085929 MYBPH inhibited assembly competence-conferring phosphorylation of the myosin regulatory light chain (RLC) as well as activating phosphorylation of LIM domain kinase, unexpectedly through its direct physical interaction with Rho kinase 1
19536175 Observational study of gene-disease association. (HuGE Navigator)

AA Sequence

MMEKNTSEGPACSPEETASESAKVPTAEPPGEVAVSESTREEQVPKPQAPAPQAPTASTATKPAPPSEDV      1 - 70
PSAPLLLTLDDVSSSSVTVSWEPPERLGRLGLQGYVLELCREGASEWVPVSARPMMVTQQTVRNLALGDK     71 - 140
FLLRVSAVSSAGAGPPAMLDQPIHIRENIEAPKIRVPRHLRQTYIRQVGETVNLQIPFQGKPKPQATWTH    141 - 210
NGHALDSQRVSMRTGDQDSILFIRSAQRSDSGRYELTVRVEDLEAKAVIDILVIEKPGPPSSIRLLDVWG    211 - 280
CNAALQWTPPQDTGNTELLGYMVQKADKKTGQWFTVLERYHPTTCTISDLIIGNSYSFRVFSENLCGLST    281 - 350
SATVTKELAHIQKADIAAKPKGFIERDFSEAPSFTQPLADHTSTPGYSTQLFCSVRASPKPKIIWMKNKM    351 - 420
EIQGNPKYRALSEQGVCTLEIRKPSPFDSGVYTCKAINVLGEASVDCRLEVKASAAH                 421 - 477
//

Text Mined References (12)

PMID Year Title
26969327 2016 MYBPH acts as modifier of cardiac hypertrophy in hypertrophic cardiomyopathy (HCM) patients.
25187353 2014 Clozapine-induced agranulocytosis is associated with rare HLA-DQB1 and HLA-B alleles.
24184715 2014 Increased expression of Myosin binding protein H in the skeletal muscle of amyotrophic lateral sclerosis patients.
23414517 2013 A human skeletal muscle interactome centered on proteins involved in muscular dystrophies: LGMD interactome.
23068101 2012 MYBPH inhibits NM IIA assembly via direct interaction with NMHC IIA and reduces cell motility.
22085929 2012 MYBPH, a transcriptional target of TTF-1, inhibits ROCK1, and reduces cell motility and metastasis.
19536175 2009 Follow-up of a major linkage peak on chromosome 1 reveals suggestive QTLs associated with essential hypertension: GenNet study.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12154082 2002 The C-terminal IgI domains of myosin-binding proteins C and H (MyBP-C and MyBP-H) are both necessary and sufficient for the intracellular crosslinking of sarcomeric myosin in transfected non-muscle cells.
10024460 1999 Mutations in beta-myosin S2 that cause familial hypertrophic cardiomyopathy (FHC) abolish the interaction with the regulatory domain of myosin-binding protein-C.
8486381 1993 Human myosin-binding protein H (MyBP-H): complete primary sequence, genomic organization, and chromosomal localization.