COG5 (component of oligomeric golgi complex 5)

2012-11-01  

Identity

HGNC
COG5
LOCATION
7q22.3
LOCUSID
10466
ALIAS
CDG2I,GOLTC1,GTC90
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 10466
MIM: 606821
HGNC: 14857
Ensembl: ENSG00000164597

Variants:

dbSNP: 10466
ClinVar: 10466
TCGA: ENSG00000164597
COSMIC: COG5

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000164597ENST00000297135Q9UP83
ENSG00000164597ENST00000347053Q9UP83
ENSG00000164597ENST00000393603Q9UP83
ENSG00000164597ENST00000605888U3KQU7

Expression (GTEx)

0
5
10
15
20
25
30
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
331878272020Fetal glycosylation defect due to ALG3 and COG5 variants detected via amniocentesis: Complex glycosylation defect with embryonic lethal phenotype.4
332775292020COG5 variants lead to complex early onset retinal degeneration, upregulation of PERK and DNA damage.0
331878272020Fetal glycosylation defect due to ALG3 and COG5 variants detected via amniocentesis: Complex glycosylation defect with embryonic lethal phenotype.4
332775292020COG5 variants lead to complex early onset retinal degeneration, upregulation of PERK and DNA damage.0
251799632014Target silencing of components of the conserved oligomeric Golgi complex impairs HIV-1 replication.11
253318992014Cog5-Cog7 crystal structure reveals interactions essential for the function of a multisubunit tethering complex.16
251799632014Target silencing of components of the conserved oligomeric Golgi complex impairs HIV-1 replication.11
253318992014Cog5-Cog7 crystal structure reveals interactions essential for the function of a multisubunit tethering complex.16
226154572012Genetic contribution to radiographic severity in osteoarthritis of the knee.8
226154572012Genetic contribution to radiographic severity in osteoarthritis of the knee.8
210680992011Meta-analysis of genome-wide association studies confirms a susceptibility locus for knee osteoarthritis on chromosome 7q22.59
210680992011Meta-analysis of genome-wide association studies confirms a susceptibility locus for knee osteoarthritis on chromosome 7q22.59
201123602010A genome-wide association study identifies an osteoarthritis susceptibility locus on chromosome 7q22.80
208049142010Fusion of HMGA2 to COG5 in uterine leiomyoma.14
201123602010A genome-wide association study identifies an osteoarthritis susceptibility locus on chromosome 7q22.80

Citation

Dessen P

COG5 (component of oligomeric golgi complex 5)

Atlas Genet Cytogenet Oncol Haematol. 2012-11-01

Online version: http://atlasgeneticsoncology.org/gene/52982/meetings/case-report-explorer/favicon/apple-touch-icon.png