COG7 (component of oligomeric golgi complex 7)

2014-11-01  

Identity

HGNC
COG7
LOCATION
16p12.2
LOCUSID
91949
ALIAS
CDG2E
FUSION GENES
Show Gene Fusions

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
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
294672532018Membrane detachment is not essential for COG complex function.10
294672532018Membrane detachment is not essential for COG complex function.10
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
195776702009A new mutation in COG7 extends the spectrum of COG subunit deficiencies.18
195776702009A new mutation in COG7 extends the spectrum of COG subunit deficiencies.18
173565452007A common mutation in the COG7 gene with a consistent phenotype including microcephaly, adducted thumbs, growth retardation, VSD and episodes of hyperthermia.39
173565452007A common mutation in the COG7 gene with a consistent phenotype including microcephaly, adducted thumbs, growth retardation, VSD and episodes of hyperthermia.39
165105242006COG-7-deficient Human Fibroblasts Exhibit Altered Recycling of Golgi Proteins.38
165105242006COG-7-deficient Human Fibroblasts Exhibit Altered Recycling of Golgi Proteins.38
160516002005Genetic analysis of the subunit organization and function of the conserved oligomeric golgi (COG) complex: studies of COG5- and COG7-deficient mammalian cells.46
160516002005Genetic analysis of the subunit organization and function of the conserved oligomeric golgi (COG) complex: studies of COG5- and COG7-deficient mammalian cells.46

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-(component-of-oligomeric-golgi-complex-7)