Property Summary

NCBI Gene PubMed Count 25
Grant Count 75
R01 Count 53
Funding $9,965,137.82
PubMed Score 15.10
PubTator Score 33.74

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (3)

Disease log2 FC p
nephrosclerosis 1.086 0.016
malignant mesothelioma -1.100 0.002
juvenile dermatomyositis 1.166 0.000

Synonym

Accession Q9NPC6 O43415 Q9HB92
Symbols CS-1
CMH16
C4orf5

Gene

PANTHER Protein Class (1)

Gene RIF (7)

PMID Text
22987565 The cardiac phenotype in hypertrophic cardiomyopathy caused by MYOZ2 mutations might be independent of calcineurin activity in the heart.
20332099 Observational study of gene-disease association. (HuGE Navigator)
19472918 Observational study of gene-disease association. (HuGE Navigator)
18591919 Observational study of gene-disease association. (HuGE Navigator)
17434779 Mutations in MYOZ1 and MYOZ2 are at least very rare events as an underlying disease mechanism for idiopathic or familial DCM
17347475 Observational study of genotype prevalence. (HuGE Navigator)
17347475 Two missense mutations, S48P substitution and I246M affecting highly conserved amino acids were linked to hereditary Hypertrophic cardiomyopathy characterized by early onset of symptoms, pronounced cardiac hypertrophy, and cardiac arrhythmias.

AA Sequence

MLSHNTMMKQRKQQATAIMKEVHGNDVDGMDLGKKVSIPRDIMLEELSHLSNRGARLFKMRQRRSDKYTF      1 - 70
ENFQYQSRAQINHSIAMQNGKVDGSNLEGGSQQAPLTPPNTPDPRSPPNPDNIAPGYSGPLKEIPPEKFN     71 - 140
TTAVPKYYQSPWEQAISNDPELLEALYPKLFKPEGKAELPDYRSFNRVATPFGGFEKASRMVKFKVPDFE    141 - 210
LLLLTDPRFMSFVNPLSGRRSFNRTPKGWISENIPIVITTEPTDDTTVPESEDL                    211 - 264
//

Text Mined References (24)

PMID Year Title
25416956 2014 A proteome-scale map of the human interactome network.
22987565 2013 Pathogenesis of hypertrophic cardiomyopathy caused by myozenin 2 mutations is independent of calcineurin activity.
20332099 2010 A systematic gene-based screen of chr4q22-q32 identifies association of a novel susceptibility gene, DKK2, with the quantitative trait of alcohol dependence symptom counts.
19472918 2008 Candidate-gene testing for orphan limb-girdle muscular dystrophies.
19447967 2009 Shifted Transversal Design smart-pooling for high coverage interactome mapping.
19047374 2009 A class III PDZ binding motif in the myotilin and FATZ families binds enigma family proteins: a common link for Z-disc myopathies.
18591919 2008 Sequence analysis of myozenin 2 in 438 European patients with familial hypertrophic cardiomyopathy.
17434779 2007 Mutations in MYOZ1 as well as MYOZ2 encoding the calsarcins are not associated with idiopathic and familial dilated cardiomyopathy.
17347475 2007 Myozenin 2 is a novel gene for human hypertrophic cardiomyopathy.
16949557 2006 Nicotinic modulation of gene expression in SH-SY5Y neuroblastoma cells.
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