COG4 (component of oligomeric golgi complex 4)

2016-10-01  

Identity

HGNC
COG4
LOCATION
16q22.1
LOCUSID
25839
ALIAS
CDG2J,COD1,SWILS
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 25839
MIM: 606976
HGNC: 18620
Ensembl: ENSG00000103051

Variants:

dbSNP: 25839
ClinVar: 25839
TCGA: ENSG00000103051
COSMIC: COG4

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000103051ENST00000323786J3KNI1
ENSG00000103051ENST00000393612A0A0A0MS45
ENSG00000103051ENST00000482252Q9H9E3
ENSG00000103051ENST00000524584J3QLW1
ENSG00000103051ENST00000530160E9PRT5
ENSG00000103051ENST00000534772J3KRB5
ENSG00000103051ENST00000564415H3BSD2
ENSG00000103051ENST00000564653H3BMV9
ENSG00000103051ENST00000565715H3BQB2

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90
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
326526902020Growth in individuals with Saul-Wilson syndrome.1
326526902020Growth in individuals with Saul-Wilson syndrome.1
294672532018Membrane detachment is not essential for COG complex function.10
302901512018A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation.40
294672532018Membrane detachment is not essential for COG complex function.10
302901512018A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation.40
194940342009Golgi function and dysfunction in the first COG4-deficient CDG type II patient.63
195361322009Direct interaction between the COG complex and the SM protein, Sly1, is required for Golgi SNARE pairing.54
196515992009Structural basis for a human glycosylation disorder caused by mutation of the COG4 gene.46
194940342009Golgi function and dysfunction in the first COG4-deficient CDG type II patient.63
195361322009Direct interaction between the COG complex and the SM protein, Sly1, is required for Golgi SNARE pairing.54
196515992009Structural basis for a human glycosylation disorder caused by mutation of the COG4 gene.46

Citation

Dessen P

COG4 (component of oligomeric golgi complex 4)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56464/meetings/gene-fusions/css/template-nav.css