Property Summary

NCBI Gene PubMed Count 25
Grant Count 10
R01 Count 5
Funding $1,911,513.2
PubMed Score 38.90
PubTator Score 15.36

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (6)

Disease log2 FC p
hepatocellular carcinoma 1.100 0.000
glioblastoma -1.100 0.000
medulloblastoma, large-cell -1.200 0.003
primitive neuroectodermal tumor -1.100 0.000
diabetes mellitus -1.100 0.001
ovarian cancer 1.800 0.009

 MGI Term (1)

Gene RIF (9)

PMID Text
26260076 study presents 7 additional patients with 4 novel COG6 mutations; genotype-phenotype correlation can be discerned ranging from deep intronic mutations found in Shaheen syndrome as the mildest form to loss-of-function mutations leading to early lethal congenital disorders of glycosylation phenotypes
25264125 The aim of this study was to investigate whether the HCP5, TNIP1, TNFAIP3, SPATA2 and COG6 genes were genetic risk factors for psoriasis in Chinese population.
25197382 Our findings implicate COG6 rs9548934C-->T genotypes and circulating miRNA-1 phenotype in modulating the occurrence and major adverse cardiovascular events of coronary artery disease.
25179963 Targeted silencing of components of lobe B of the COG complex, namely COG5, COG6, COG7 and COG8, inhibited HIV-1 replication
23606727 data implicate COG6 in the pathogenesis of a novel hypohidrotic disorder in humans that is distinct from congenital disorders of glycosylation.
23057818 COG6 interaction with SNARE proteins via universal SNARE-binding motif of COG6 is important for Golgi complex intergrity.
22883088 COG6 rs9548934C-->T polymorphism is associated with lower risk of premature coronary artery disease, especially in female subjects and subjects with lower serum lipid levels.
21807881 COG directly and positively regulates endosome-to-TGN retrograde transport by specific and direct interaction with the t-SNARE Stx6 via its Cog6 subunit.
17331980 This paper reports a new congenital disorder caused by mutations in the human COG8 gene and describes the affect this mutation has on the other COG components.

AA Sequence

MAEGSGEVVAVSATGAANGLNNGAGGTSATTCNPLSRKLHKILETRLDNDKEMLEALKALSTFFVENSLR      1 - 70
TRRNLRGDIERKSLAINEEFVSIFKEVKEELESISEDVQAMSNCCQDMTSRLQAAKEQTQDLIVKTTKLQ     71 - 140
SESQKLEIRAQVADAFLSKFQLTSDEMSLLRGTREGPITEDFFKALGRVKQIHNDVKVLLRTNQQTAGLE    141 - 210
IMEQMALLQETAYERLYRWAQSECRTLTQESCDVSPVLTQAMEALQDRPVLYKYTLDEFGTARRSTVVRG    211 - 280
FIDALTRGGPGGTPRPIEMHSHDPLRYVGDMLAWLHQATASEKEHLEALLKHVTTQGVEENIQEVVGHIT    281 - 350
EGVCRPLKVRIEQVIVAEPGAVLLYKISNLLKFYHHTISGIVGNSATALLTTIEEMHLLSKKIFFNSLSL    351 - 420
HASKLMDKVELPPPDLGPSSALNQTLMLLREVLASHDSSVVPLDARQADFVQVLSCVLDPLLQMCTVSAS    421 - 490
NLGTADMATFMVNSLYMMKTTLALFEFTDRRLEMLQFQIEAHLDTLINEQASYVLTRVGLSYIYNTVQQH    491 - 560
KPEQGSLANMPNLDSVTLKAAMVQFDRYLSAPDNLLIPQLNFLLSATVKEQIVKQSTELVCRAYGEVYAA    561 - 630
VMNPINEYKDPENILHRSPQQVQTLLS                                               631 - 657
//

Text Mined References (29)

PMID Year Title
27107012 2016 Pooled-matrix protein interaction screens using Barcode Fusion Genetics.
26260076 2015 Key features and clinical variability of COG6-CDG.
25264125 2014 Investigating the genetic association of HCP5, SPATA2, TNIP1, TNFAIP3 and COG6 with psoriasis in Chinese population.
25231870 2014 Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.
25197382 2014 Polymorphism in miRNA-1 target site and circulating miRNA-1 phenotype are associated with the decreased risk and prognosis of coronary artery disease.
25179963 2014 Target silencing of components of the conserved oligomeric Golgi complex impairs HIV-1 replication.
24390342 2014 Genetics of rheumatoid arthritis contributes to biology and drug discovery.
23606727 2013 A novel syndrome of hypohidrosis and intellectual disability is linked to COG6 deficiency.
23057818 2013 COG6 interacts with a subset of the Golgi SNAREs and is important for the Golgi complex integrity.
22883088 2012 [Association study on the microRNA-1 target gene polymorphism and the risk of premature coronary artery disease].
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