Property Summary

NCBI Gene PubMed Count 19
PubMed Score 5.52
PubTator Score 4.36

Knowledge Summary

Patent

No data available

Expression

Synonym

Gene

PDB

2EP6  

Gene RIF (6)

PMID Text
23773997 Results identify MCTP2 as a novel genetic cause of coarctation of the aorta and related cardiac malformations.
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
19223264 The present study suggested that MCPT2 gene as aputative susceptibility gene for schizophrenia of Scandinavian origin.
19223264 Observational study of gene-disease association. (HuGE Navigator)
18367154 Observational study of gene-disease association. (HuGE Navigator)
15528213 MCTPs are evolutionarily conserved C2 domain proteins that are unusual in that the C2 domains are anchored in the membrane by two closely spaced transmembrane regions and represent Ca(2+)-binding but not phospholipid-binding modules

AA Sequence

MDLDKPSVWGSLKQRTRPLLINLSKKKVKKNPSKPPDLRARHHLDRRLSLSVPDLLEAEALAPEGRPYSG      1 - 70
PQSSYTSVPSSLSTAGIFPKSSSSSLKQSEEELDWSQEEASHLHVVETDSEEAYASPAERRRVSSNGIFD     71 - 140
LQKTSLGGDAPEEPEKLCGSSDLNASMTSQHFEEQSVPGEASDGLSNLPSPFAYLLTIHLKEGRNLVVRD    141 - 210
RCGTSDPYVKFKLNGKTLYKSKVIYKNLNPVWDEIVVLPIQSLDQKLRVKVYDRDLTTSDFMGSAFVILS    211 - 280
DLELNRTTEHILKLEDPNSLEDDMGVIVLNLNLVVKQGDFKRHRWSNRKRLSASKSSLIRNLRLSESLKK    281 - 350
NQLWNGIISITLLEGKNVSGGSMTEMFVQLKLGDQRYKSKTLCKSANPQWQEQFDFHYFSDRMGILDIEV    351 - 420
WGKDNKKHEERLGTCKVDISALPLKQANCLELPLDSCLGALLMLVTLTPCAGVSVSDLCVCPLADLSERK    421 - 490
QITQRYCLQNSLKDVKDVGILQVKVLKAADLLAADFSGKSDPFCLLELGNDRLQTHTVYKNLNPEWNKVF    491 - 560
TFPIKDIHDVLEVTVFDEDGDKPPDFLGKVAIPLLSIRDGQPNCYVLKNKDLEQAFKGVIYLEMDLIYNP    561 - 630
VKASIRTFTPREKRFVEDSRKLSKKILSRDVDRVKRITMAIWNTMQFLKSCFQWESTLRSTIAFAVFLIT    631 - 700
VWNFELYMIPLALLLIFVYNFIRPVKGKVSSIQDSQESTDIDDEEDEDDKESEKKGLIERIYMVQDIVST    701 - 770
VQNVLEEIASFGERIKNTFNWTVPFLSSLACLILAAATIILYFIPLRYIILIWGINKFTKKLRNPYSIDN    771 - 840
NELLDFLSRVPSDVQKVQYAELKLCSSHSPLRKKRSAL                                    841 - 878
//

Text Mined References (22)

PMID Year Title
25241909 2014 Genetic susceptibility for chronic bronchitis in chronic obstructive pulmonary disease.
25133637 2014 Genome-wide association studies and heritability estimates of body mass index related phenotypes in Bangladeshi adults.
24322204 2014 Genome-wide association study of bipolar disorder accounting for effect of body mass index identifies a new risk allele in TCF7L2.
24009623 2013 Genome-wide association study for biomarker identification of Rapamycin and Everolimus using a lymphoblastoid cell line system.
23773997 2013 MCTP2 is a dosage-sensitive gene required for cardiac outflow tract development.
23362303 2013 Genome-wide association study identifies novel loci associated with concentrations of four plasma phospholipid fatty acids in the de novo lipogenesis pathway: results from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortium.
23028342 2012 New susceptibility loci associated with kidney disease in type 1 diabetes.
21658281 2011 GWAS for discovery and replication of genetic loci associated with sudden cardiac arrest in patients with coronary artery disease.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
20125193 2010 Common genetic variation and performance on standardized cognitive tests.
More...