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
333945552021Disorder of sex development associated with a novel homozygous nonsense mutation in COG6 expands the phenotypic spectrum of COG6-CDG.2
333945552021Disorder of sex development associated with a novel homozygous nonsense mutation in COG6 expands the phenotypic spectrum of COG6-CDG.2
326836772020COG6-CDG: Expanding the phenotype with emphasis on glycosylation defects involved in the causation of male disorders of sex development.6
326836772020COG6-CDG: Expanding the phenotype with emphasis on glycosylation defects involved in the causation of male disorders of sex development.6
297097112019Compound heterozygous variants of the COG6 gene in a Chinese patient with deficiency of subunit 6 of the conserved oligomeric Golgi complex (COG6-CDG).7
297097112019Compound heterozygous variants of the COG6 gene in a Chinese patient with deficiency of subunit 6 of the conserved oligomeric Golgi complex (COG6-CDG).7
271930312017A combined large-scale meta-analysis identifies COG6 as a novel shared risk locus for rheumatoid arthritis and systemic lupus erythematosus.30
271930312017A combined large-scale meta-analysis identifies COG6 as a novel shared risk locus for rheumatoid arthritis and systemic lupus erythematosus.30
262600762015Key features and clinical variability of COG6-CDG.28
262600762015Key features and clinical variability of COG6-CDG.28
251799632014Target silencing of components of the conserved oligomeric Golgi complex impairs HIV-1 replication.11
251973822014Polymorphism in miRNA-1 target site and circulating miRNA-1 phenotype are associated with the decreased risk and prognosis of coronary artery disease.5
252641252014Investigating the genetic association of HCP5, SPATA2, TNIP1, TNFAIP3 and COG6 with psoriasis in Chinese population.9
251799632014Target silencing of components of the conserved oligomeric Golgi complex impairs HIV-1 replication.11
251973822014Polymorphism in miRNA-1 target site and circulating miRNA-1 phenotype are associated with the decreased risk and prognosis of coronary artery disease.5

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-(component-of-oligomeric-golgi-complex-6)