COG8 (component of oligomeric golgi complex 8)

2014-08-01 Affiliation

Identity

HGNC

COG8

LOCATION

16q22.1

LOCUSID

84342

ALIAS

CDG2H,DOR1

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

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

Variants:

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

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000213380	ENST00000306875	B4DYU2
ENSG00000213380	ENST00000562081	H3BQV3
ENSG00000213380	ENST00000562595	H3BSH5
ENSG00000213380	ENST00000567493	J3QRV3
ENSG00000213380	ENST00000615447	A0A087X1T3
ENSG00000213380	ENST00000648169	Q96MW5
ENSG00000213380	ENST00000648169	A0A024R6Z6

Expression (GTEx)

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

Pathway	Source	External ID
Metabolism of proteins	REACTOME	R-HSA-392499
Post-translational protein modification	REACTOME	R-HSA-597592
Asparagine N-linked glycosylation	REACTOME	R-HSA-446203
Transport to the Golgi and subsequent modification	REACTOME	R-HSA-948021
ER to Golgi Anterograde Transport	REACTOME	R-HSA-199977
Vesicle-mediated transport	REACTOME	R-HSA-5653656
Membrane Trafficking	REACTOME	R-HSA-199991
COPI-mediated anterograde transport	REACTOME	R-HSA-6807878
Intra-Golgi and retrograde Golgi-to-ER traffic	REACTOME	R-HSA-6811442
Retrograde transport at the Trans-Golgi-Network	REACTOME	R-HSA-6811440
Intra-Golgi traffic	REACTOME	R-HSA-6811438

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
29467253	2018	Membrane detachment is not essential for COG complex function.	10
29467253	2018	Membrane detachment is not essential for COG complex function.	10
28619360	2017	Further delineation of COG8-CDG: A case with novel compound heterozygous mutations diagnosed by targeted exome sequencing.	6
28619360	2017	Further delineation of COG8-CDG: A case with novel compound heterozygous mutations diagnosed by targeted exome sequencing.	6
26045774	2015	TMED6-COG8 is a novel molecular marker of TFE3 translocation renal cell carcinoma.	2
26045774	2015	TMED6-COG8 is a novel molecular marker of TFE3 translocation renal cell carcinoma.	2
25179963	2014	Target silencing of components of the conserved oligomeric Golgi complex impairs HIV-1 replication.	11
25179963	2014	Target silencing of components of the conserved oligomeric Golgi complex impairs HIV-1 replication.	11
21805148	2012	Successful COG8 and PDF overlap is mediated by alterations in splicing and polyadenylation signals.	2
21805148	2012	Successful COG8 and PDF overlap is mediated by alterations in splicing and polyadenylation signals.	2

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-(component-of-oligomeric-golgi-complex-8)