Property Summary

NCBI Gene PubMed Count 25
PubMed Score 15.10
PubTator Score 33.74

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (6)

Expression

  Differential Expression (3)

Disease log2 FC p
nephrosclerosis 1.086 1.6e-02
malignant mesothelioma -1.100 1.9e-03
juvenile dermatomyositis 1.166 1.4e-07

Synonym

Accession Q9NPC6 O43415 Q9HB92
Symbols CS-1
CMH16
C4orf5

Gene

PANTHER Protein Class (1)

  Ortholog (1)

Species Source Disease
Chimp OMA EggNOG

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.
16189514 2005 Towards a proteome-scale map of the human protein-protein interaction network.
16076904 2005 The Z-disc proteins myotilin and FATZ-1 interact with each other and are connected to the sarcolemma via muscle-specific filamins.
15582318 2004 Tcap gene mutations in hypertrophic cardiomyopathy and dilated cardiomyopathy.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15342556 2004 Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions.
14993199 2004 Major quantitative trait locus for resting heart rate maps to a region on chromosome 4.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11842093 2002 Calsarcin-3, a novel skeletal muscle-specific member of the calsarcin family, interacts with multiple Z-disc proteins.
11171996 2001 Myozenin: an alpha-actinin- and gamma-filamin-binding protein of skeletal muscle Z lines.
11161785 2000 Identification and characterization of a novel gene (C4orf5) located on human chromosome 4q with specific expression in cardiac and skeletal muscle.
11114196 2000 Calsarcins, a novel family of sarcomeric calcineurin-binding proteins.
10427098 1999 ZASP: a new Z-band alternatively spliced PDZ-motif protein.
9110174 1997 Large-scale concatenation cDNA sequencing.
8619474 1996 A "double adaptor" method for improved shotgun library construction.