component of oligomeric golgi complex 6

Summary
Gene Symbol
  • COG6
Aliases
  • COD2
  • KIAA1134
Organism
Homo sapiens (human)
External Links
NCBI Gene
57511
HGNC
18621
KEGG Gene ID
hsa:57511
PubChem
57511
Alliance of Genome Resources
Annotation
Keyword
  • Alternative splicing
  • Congenital disorder of glycosylation
  • Disease variant
  • Golgi apparatus
  • Intellectual disability
  • Membrane
  • Protein transport
  • Reference proteome
Proteins
Displaying all 2 entries
UniProt Protein Name
Q9Y2V7
  • Component of oligomeric Golgi complex 6
A0A140VJG7
  • Component of oligomeric Golgi complex 6
Gene Ontology (GO)
Displaying 1 entry
GO Term Evidence Code PMID
protein binding
Human Protein Atlas
ENSG00000133103

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
K20293
Name
conserved oligomeric Golgi complex subunit 6
References
Disease
Disease Ontology
Displaying entries 1 - 10 of 47 in total
DO ID Disease Name Source
DOID:0050428 nonepidermolytic palmoplantar keratoderma
DOID:0050571 congenital disorder of glycosylation type II
DOID:0070264 congenital disorder of glycosylation type IIl
DOID:0080470 developmental and epileptic encephalopathy 36
DOID:10461 dentin caries
DOID:1059 intellectual disability
DOID:10907 microcephaly
DOID:10908 hydrocephalus
DOID:11155 hypohidrosis
DOID:11156 anhidrosis
The Human Phenotype Ontology
Displaying entries 1 - 10 of 61 in total
HPO ID HPO Term
HP:0000007 Autosomal recessive inheritance
HP:0000114 Proximal tubulopathy
HP:0000122 Unilateral renal agenesis
HP:0000238 Hydrocephalus
HP:0000252 Microcephaly
HP:0000278 Retrognathia
HP:0000286 Epicanthus
HP:0000455 Broad nasal tip
HP:0000648 Optic atrophy
HP:0000670 Carious teeth
Displaying all 3 entries
Disease ID Disease Name
ORPHA:363523
  • hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome
OMIM:615328
  • hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome
OMIM:614576
  • COG6-ongenital disorder of glycosylation

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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