COG7 (component of oligomeric golgi complex 7)

2014-11-01  

Identity

HGNC
LOCATION
16p12.2
LOCUSID
ALIAS
CDG2E
FUSION GENES

Other Information

Locus ID:

NCBI: 91949
MIM: 606978
HGNC: 18622
Ensembl: ENSG00000168434

Variants:

dbSNP: 91949
ClinVar: 91949
TCGA: ENSG00000168434
COSMIC: COG7

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000168434ENST00000307149P83436
ENSG00000168434ENST00000307149A0A0S2Z652
ENSG00000168434ENST00000561854I3L2R8
ENSG00000168434ENST00000563164I3L337

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45

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
160516002005Genetic analysis of the subunit organization and function of the conserved oligomeric golgi (COG) complex: studies of COG5- and COG7-deficient mammalian cells.38
165105242006COG-7-deficient Human Fibroblasts Exhibit Altered Recycling of Golgi Proteins.31
173565452007A common mutation in the COG7 gene with a consistent phenotype including microcephaly, adducted thumbs, growth retardation, VSD and episodes of hyperthermia.29
195776702009A new mutation in COG7 extends the spectrum of COG subunit deficiencies.14
253318992014Cog5-Cog7 crystal structure reveals interactions essential for the function of a multisubunit tethering complex.10
251799632014Target silencing of components of the conserved oligomeric Golgi complex impairs HIV-1 replication.6
294672532018Membrane detachment is not essential for COG complex function.5

Citation

Dessen P

COG7 (component of oligomeric golgi complex 7)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/61980/cog7