COG6 (component of oligomeric golgi complex 6)

2014-11-01  

Identity

HGNC
LOCATION
13q14.11
LOCUSID
ALIAS
CDG2L,COD2,SHNS
FUSION GENES

Other Information

Locus ID:

NCBI: 57511
MIM: 606977
HGNC: 18621
Ensembl: ENSG00000133103

Variants:

dbSNP: 57511
ClinVar: 57511
TCGA: ENSG00000133103
COSMIC: COG6

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000133103ENST00000356576Q9Y2V7
ENSG00000133103ENST00000416691Q9Y2V7
ENSG00000133103ENST00000416691A0A140VJG7
ENSG00000133103ENST00000455146Q9Y2V7
ENSG00000133103ENST00000455146A0A024RDW5
ENSG00000133103ENST00000536488H0YGX8
ENSG00000133103ENST00000542266F5GX76
ENSG00000133103ENST00000543790F5GX76
ENSG00000133103ENST00000543804F5GX38
ENSG00000133103ENST00000630730F5GX76

Expression (GTEx)

0
5
10
15

Pathways

PathwaySourceExternal ID
Metabolism of proteinsREACTOMER-HSA-392499
Post-translational protein modificationREACTOMER-HSA-597592
Asparagine N-linked glycosylationREACTOMER-HSA-446203
Transport to the Golgi and subsequent modificationREACTOMER-HSA-948021
ER to Golgi Anterograde TransportREACTOMER-HSA-199977
Vesicle-mediated transportREACTOMER-HSA-5653656
Membrane TraffickingREACTOMER-HSA-199991
COPI-mediated anterograde transportREACTOMER-HSA-6807878
Intra-Golgi and retrograde Golgi-to-ER trafficREACTOMER-HSA-6811442
Retrograde transport at the Trans-Golgi-NetworkREACTOMER-HSA-6811440
Intra-Golgi trafficREACTOMER-HSA-6811438

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
173319802007COG8 deficiency causes new congenital disorder of glycosylation type IIh.51
218078812011The COG complex interacts directly with Syntaxin 6 and positively regulates endosome-to-TGN retrograde transport.42
230578182013COG6 interacts with a subset of the Golgi SNAREs and is important for the Golgi complex integrity.21
271930312017A combined large-scale meta-analysis identifies COG6 as a novel shared risk locus for rheumatoid arthritis and systemic lupus erythematosus.16
262600762015Key features and clinical variability of COG6-CDG.13
236067272013A novel syndrome of hypohidrosis and intellectual disability is linked to COG6 deficiency.11
252641252014Investigating the genetic association of HCP5, SPATA2, TNIP1, TNFAIP3 and COG6 with psoriasis in Chinese population.7
251799632014Target silencing of components of the conserved oligomeric Golgi complex impairs HIV-1 replication.6
251973822014Polymorphism in miRNA-1 target site and circulating miRNA-1 phenotype are associated with the decreased risk and prognosis of coronary artery disease.5
228830882012[Association study on the microRNA-1 target gene polymorphism and the risk of premature coronary artery disease].1

Citation

Dessen P

COG6 (component of oligomeric golgi complex 6)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/61979/cog6