component of oligomeric golgi complex 2

Summary
Gene Symbol
  • COG2
Organism
Homo sapiens (human)
External Links
NCBI Gene
22796
HGNC
6546
KEGG Gene ID
hsa:22796
PubChem
22796
Alliance of Genome Resources
Annotation
Keyword
  • Alternative splicing
  • Congenital disorder of glycosylation
  • Disease variant
  • Golgi apparatus
  • Membrane
  • Protein transport
  • Reference proteome
Proteins
Displaying all 2 entries
UniProt Protein Name
Q14746
  • Component of oligomeric Golgi complex 2
  • Low density lipoprotein receptor defect C-complementing protein
B1ALW7
  • Component of oligomeric Golgi complex 2
Gene Ontology (GO)
KEGG BRITE Database
Orthology
K20289
Name
conserved oligomeric Golgi complex subunit 2
References
Disease
Disease Ontology
Displaying entries 1 - 10 of 18 in total
DO ID Disease Name Source
DOID:0060224 atrial fibrillation
DOID:0070269 congenital disorder of glycosylation type IIq
DOID:10534 stomach cancer
DOID:114 heart disease
DOID:11832 visual epilepsy
DOID:12697 locked-in syndrome
DOID:12835 quadriplegia
DOID:1287 cardiovascular system disease
DOID:13810 familial hypercholesterolemia
DOID:1390 hypobetalipoproteinemia
The Human Phenotype Ontology
Displaying entries 1 - 10 of 19 in total
HPO ID HPO Term
HP:0000007 Autosomal recessive inheritance
HP:0001249 Intellectual disability
HP:0001252 Hypotonia
HP:0001263 Global developmental delay
HP:0001410 Decreased liver function
HP:0001999 Abnormal facial shape
HP:0002079 Hypoplasia of the corpus callosum
HP:0002361 Psychomotor deterioration
HP:0002506 Diffuse cerebral atrophy
HP:0002510 Spastic tetraplegia
Displaying all 2 entries
Disease ID Disease Name
ORPHA:435934
  • congenital disorder of glycosylation, type IIq
OMIM:617395
  • congenital disorder of glycosylation, type IIq

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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