COG2 (component of oligomeric golgi complex 2)

2014-11-01  

Identity

HGNC
LOCATION
1q42.2
LOCUSID
ALIAS
CDG2Q,LDLC
FUSION GENES

Other Information

Locus ID:

NCBI: 22796
MIM: 606974
HGNC: 6546
Ensembl: ENSG00000135775

Variants:

dbSNP: 22796
ClinVar: 22796
TCGA: ENSG00000135775
COSMIC: COG2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000135775ENST00000366668Q14746
ENSG00000135775ENST00000366669Q14746
ENSG00000135775ENST00000366669B1ALW7
ENSG00000135775ENST00000468893V9GY21
ENSG00000135775ENST00000534989B7Z2Y2

Expression (GTEx)

0
5
10
15
20
25
30
35

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

References

Pubmed IDYearTitleCitations
179751192008Association of gene variants with incident myocardial infarction in the Cardiovascular Health Study.65
172747992007The interaction of two tethering factors, p115 and COG complex, is required for Golgi integrity.41
190230992009Gene variants associated with ischemic stroke: the cardiovascular health study.16
191052032009An association analysis of Alzheimer disease candidate genes detects an ancestral risk haplotype clade in ACE and putative multilocus association between ACE, A2M, and LRRTM3.16
247849322015Mutations in COG2 encoding a subunit of the conserved oligomeric golgi complex cause a congenital disorder of glycosylation.16

Citation

Dessen P

COG2 (component of oligomeric golgi complex 2)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/61976/cog2-(component-of-oligomeric-golgi-complex-2)