component of oligomeric golgi complex 8

Summary
Gene Symbol
  • COG8
Aliases
  • DOR1
  • FLJ22315
Organism
Homo sapiens (human)
External Links
NCBI Gene
84342
HGNC
18623
KEGG Gene ID
hsa:84342
PubChem
84342
Alliance of Genome Resources
Annotation
Keyword
  • Congenital disorder of glycosylation
  • Golgi apparatus
  • Membrane
  • Protein transport
  • Reference proteome
Proteins
Displaying 1 entry
UniProt Protein Name
Q96MW5
  • Component of oligomeric Golgi complex 8
Gene Ontology (GO)
Displaying 1 entry
GO Term Evidence Code PMID
protein binding
Human Protein Atlas
ENSG00000213380

soft tissue soft tissue blood blood blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node kidney kidney adrenal gland adrenal gland breast breast duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland nasopharynx nasopharynx tongue tonsil tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder ductus deferens ductus deferens seminal vesicle seminal vesicle seminal vesicle seminal vesicle testis testis epididymis epididymis brain smooth muscle urinary bladder prostate bone marrow skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus cartilage sole of foot sole of foot soft tissue blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lactating breast lactating breast kidney kidney adrenal gland adrenal gland duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland salivary gland salivary gland salivary gland salivary gland salivary gland nasopharynx tongue tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder brain skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus smooth muscle urinary bladder vagina ovary ovary fallopian tube fallopian tube endometrium placenta cervix cervix bone marrow cartilage sole of foot sole of foot olfactory region cerebral cortex cerebellum medulla pons midbrain pituitary gland hypothalamus amygdala thalamus choroid plexus choroid plexus corpus callosum basal ganglia substantia nigra dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe caudate hippocampus retina retina

Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.

KEGG BRITE Database
Orthology
K20295
Name
conserved oligomeric Golgi complex subunit 8
References
Disease
Disease Ontology
Displaying entries 1 - 10 of 37 in total
DO ID Disease Name Source
DOID:0050570 congenital disorder of glycosylation type I
DOID:0050571 congenital disorder of glycosylation type II
DOID:0050841 focal hand dystonia
DOID:0060249 scoliosis
DOID:0070260 congenital disorder of glycosylation type IIh
DOID:0080199 colorectal carcinoma
DOID:0080470 developmental and epileptic encephalopathy 36
DOID:0080561 congenital disorder of glycosylation Ii
DOID:0111338 isolated elevated serum creatine phosphokinase levels
DOID:10534 stomach cancer
The Human Phenotype Ontology
Displaying entries 1 - 10 of 44 in total
HPO ID HPO Term
HP:0000007 Autosomal recessive inheritance
HP:0000252 Microcephaly
HP:0000253 Progressive microcephaly
HP:0000286 Epicanthus
HP:0000347 Micrognathia
HP:0000565 Esotropia
HP:0001137 Alternating esotropia
HP:0001249 Intellectual disability
HP:0001250 Seizure
HP:0001251 Ataxia
Displaying all 2 entries
Disease ID Disease Name
ORPHA:95428
  • COG8-congenital disorder of glycosylation
OMIM:611182
  • COG8-congenital disorder of glycosylation

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GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024