COG8 (component of oligomeric golgi complex 8)

2014-08-01  

Identity

HGNC
COG8
LOCATION
16q22.1
LOCUSID
84342
ALIAS
CDG2H,DOR1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 84342
MIM: 606979
HGNC: 18623
Ensembl: ENSG00000213380

Variants:

dbSNP: 84342
ClinVar: 84342
TCGA: ENSG00000213380
COSMIC: COG8

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000213380ENST00000306875B4DYU2
ENSG00000213380ENST00000562081H3BQV3
ENSG00000213380ENST00000562595H3BSH5
ENSG00000213380ENST00000567493J3QRV3
ENSG00000213380ENST00000615447A0A087X1T3
ENSG00000213380ENST00000648169Q96MW5
ENSG00000213380ENST00000648169A0A024R6Z6

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
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
286193602017Further delineation of COG8-CDG: A case with novel compound heterozygous mutations diagnosed by targeted exome sequencing.4
218051482012Successful COG8 and PDF overlap is mediated by alterations in splicing and polyadenylation signals.2
260457742015TMED6-COG8 is a novel molecular marker of TFE3 translocation renal cell carcinoma.1

Citation

Dessen P

COG8 (component of oligomeric golgi complex 8)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54227/cog8