COG8 - component of oligomeric golgi complex 8 Gene

Also Known as DOR1; CDG2H

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 84342

About COG8

Cytogenetic location: 16q22.1 Genomic coordinates (GRCh38): 16:69,326,428-69,339,564 (from NCBI)

This gene has 6 transcripts (splice variants), 206 orthologues and is associated with 3 phenotypes. Ubiquitous expression in testis (RPKM 17.4), kidney (RPKM 11.1) and 25 other tissues.

Summary

This gene encodes a protein that is a component of the conserved oligomeric Golgi (COG) complex, a multiprotein complex that plays a structural role in the Golgi apparatus, and is involved in intracellular membrane trafficking and glycoprotein modification. Mutations in this gene cause congenital disorder of glycosylation, type IIh, a disease that is characterized by under-glycosylated serum proteins, and whose symptoms include severe psychomotor retardation, failure to thrive, seizures, and dairy and wheat product intolerance. [provided by RefSeq, Jul 2008]

COG8 Products (8)

mRNA	Protein	Name
NM_001374871.1	NP_001361800.1	conserved oligomeric Golgi complex subunit 8 isoform 2
NM_001379261.1	NP_001366190.1	conserved oligomeric Golgi complex subunit 8 isoform 3
NM_001379262.1	NP_001366191.1	conserved oligomeric Golgi complex subunit 8 isoform 4
NM_001379263.1	NP_001366192.1	conserved oligomeric Golgi complex subunit 8 isoform 5
NM_001379264.1	NP_001366193.1	conserved oligomeric Golgi complex subunit 8 isoform 1
NM_001379265.1	NP_001366194.1	conserved oligomeric Golgi complex subunit 8 isoform 6
NM_001379266.1	NP_001366195.1	conserved oligomeric Golgi complex subunit 8 isoform 7
NM_032382.5	NP_115758.3	conserved oligomeric Golgi complex subunit 8 isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Verweise	Source
enables protein binding	IPI IPI: Inferred from physical interaction	25416956	GOA

Biological Process GO Annotation	Evidence	Verweise	Source
involved in Golgi organization	IMP IMP: Inferred from mutant phenotype	27066481	GOA
involved in glycosylation	IMP IMP: Inferred from mutant phenotype	27066481	GOA
involved in retrograde transport, vesicle recycling within Golgi	IMP IMP: Inferred from mutant phenotype	27066481	GOA

Cellular Component GO Annotation	Evidence	Verweise	Source
part of Golgi transport complex	IDA IDA: Inferred from direct assay	15047703	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

COG8 Protein Structure

Dor1

0
100
200
300
400
500
612 a.a.

Protein Preferred Names	Protein Names
conserved oligomeric Golgi complex subunit 8	COG complex subunit 8

COG8 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Verweise
Intra	COG8	Q96MW5	MYEF2	Homo sapiens	Q9P2K5-2	Y2H Prey Pooling	25416956
Intra	COG8	Q96MW5	MYEF2	Homo sapiens	Q9P2K5-2	Validated Y2H	25416956
Intra	COG8	Q96MW5	MYEF2	Homo sapiens	Q9P2K5-2	Y2H Array	25416956
Intra	COG8	Q96MW5	KIF1B	Homo sapiens	O60333-2	Validated Y2H	32814053
Intra	COG8	Q96MW5	KIF1B	Homo sapiens	O60333-2	Y2H Pooling	32814053
Intra	COG8	Q96MW5	KIF1B	Homo sapiens	O60333-2	Y2H Array	32814053
Intra	COG8	Q96MW5	TTR	Homo sapiens	P02766	Y2H Pooling	32814053
Intra	COG8	Q96MW5	TTR	Homo sapiens	P02766	Validated Y2H	32814053
Intra	COG8	Q96MW5	TTR	Homo sapiens	P02766	Y2H Array	32814053
Intra	COG8	Q96MW5	GEM	Homo sapiens	P55040	Y2H Array	25416956

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Congenital Disorder Of Glycosylation, Type Iih	CDG2H Congenital Disorder Of Glycosylation Type Iih Cdg Iih Cdgiih Carbohydrate Deficient Glycoprotein Syndrome Type Iih Congenital Disorder Of Glycosylation Type 2h Cog8-Cdg Cdg-Iih Cdgiidh Cdg Syndrome Type Iih Congenital Disorder Of Glycosylation 2h Glycosylation, Congenital Disorder Of, Type Iih
Alternating Esotropia
Immunodeficiency 47	Congenital Disorder Of Glycosylation Type Ii CDG2E Congenital Disorder Of Glycosylation Type Iie IMD47 Cdg2s Cdg Iis Cdgiis Immunodeficiency And Hepatopathy With Or Without Neurologic Features Congenital Disorder Of Glycosylation, Type Ii CDG1I Congenital Disorder Of Glycosylation, Type Iie Cdg Iie Congenital Disorder Of Glycosylation Type 2e Congenital Disorder Of Glycosylation, Type Iis Cdg Ii Cdgii Cdgiie Carbohydrate Deficient Glycoprotein Syndrome Type Iie Cdg Syndrome Type Iie Congenital Disorder Of Glycosylation Ii Congenital Disorder Of Glycosylation 1i Cdg-Iie Alg2-Cdg Cdg-Ii Glycosylation, Congenital Disorder Of, Type Ii Cdgiide Congenital Disorder Of Glycosylation Type Iis Cog7-Cdg Cdg Syndrome Type Ii Carbohydrate Deficient Glycoprotein Syndrome Type Ii Congenital Disorder Of Glycosylation Type 1i Mannosyltransferase 2 Deficiency Congenital Disorder Of Glycosylation 2e Congenital Disorder Of Glycosylation 2s Congenital Disorders Of Glycosylation Type Ii Glycosylation, Congenital Disorder Of, Type Iie Immunodeficiency, Type 47 Congenital Disorder Of Glycosylation Type 2a
Congenital Disorder Of Glycosylation, Type Iij	CDG2J Congenital Disorder Of Glycosylation Type Iij Cdg Iij Cdgiij Carbohydrate Deficient Glycoprotein Syndrome Type Iij Cdg Syndrome Type Iij Congenital Disorder Of Glycosylation Type 2j Cog4-Cdg Cdg-Iij Cdgiidj Congenital Disorder Of Glycosylation 2j Glycosylation, Congenital Disorder Of, Type Iij
Cone-Rod Dystrophy, X-Linked, 2	CORDX2 Cod2 X-Linked Cone-Rod Dystrophy 2 Cone Dystrophy 2, X-Linked Cone Dystrophy, Progressive X-Linked, 2 X-Linked Cone Dystrophy 2 Cone-Rod Dystrophy X-Linked 2 Cone Dystrophy X-Linked 2 Cone Dystrophy-2, X-Linked
Congenital Disorder Of Glycosylation, Type Iii	CDG2I Congenital Disorder Of Glycosylation Type Iii Cdgiii Carbohydrate Deficient Glycoprotein Syndrome Type Iii Congenital Disorder Of Glycosylation Type 2i Cog5-Cdg Cdgiidi Congenital Disorder Of Glycosylation 2i Glycosylation, Congenital Disorder Of, Type Iii Congenital Disorder Of Glycosylation, Type I-Iix
Developmental And Epileptic Encephalopathy 36	Congenital Disorder Of Glycosylation Type I Epileptic Encephalopathy, Early Infantile, 36 Congenital Disorder Of Glycosylation, Type Is Cdg1s Congenital Disorder Of Glycosylation, Type Ie CDG1E Congenital Disorder Of Glycosylation Type 1e DEE36 Eiee36 Cdg Is Cdgis Congenital Disorder Of Glycosylation Ie Congenital Disorder Of Glycosylation 1e Cdg-Is Congenital Disorder Of Glycosylation Type Is Developmental And Epileptic Encephalopathy, 36 Cdg Ie Cdgie Early Infantile Epileptic Encephalopathy 36 Alg13-Cdg Cdg Syndrome Type Is Congenital Disorder Of Glycosylation Type 1s Dpm1-Cdg Cdg Syndrome Type Ie Cdg-Ie Carbohydrate Deficient Glycoprotein Syndrome Type Ie Congenital Disorder Of Glycosylation Type Ie Dol-P-Mannosyltransferase Deficiency Congenital Disorder Of Glycosylation 1s Glycosylation, Congenital Disorder Of, Type I Glycosylation, Congenital Disorder Of, Type Ie Congenital Disorder Of Glycosylation Type 1a Congenital Disorder Of Glycosylation, Type Iu
Congenital Disorder Of Glycosylation, Type Iig	CDG2G Congenital Disorder Of Glycosylation Type Iig Cdg Iig Cdgiig Cdgii/Cog1 Cerebrocostomandibular-Like Syndrome Carbohydrate Deficient Glycoprotein Syndrome Type Iig Cdg-Iig Congenital Disorder Of Glycosylation, Type 2g Cog1-Cdg Cdg Syndrome Type Iig Congenital Disorder Of Glycosylation Type 2g Congenital Disorder Of Glycosylation 2g Cdg-Ii Caused By Cog1 Deficiency Glycosylation, Congenital Disorder Of, Type Iig
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3	Distal Spinal Muscular Atrophy Type 3 DSMA3 Spinal Muscular Atrophy, Chronic Distal, Autosomal Recessive Autosomal Recessive Distal Spinal Muscular Atrophy Type 3 Dhmn3 And Dhmn4 Distal Hereditary Motor Neuropathy Type 3 And Type 4 Neuronopathy, Distal Hereditary Motor, Type Iv Hmn4 Dhmn4 Neuropathy, Distal Hereditary Motor, Type Iv Hmn Iv Neuronopathy, Distal Hereditary Motor, Type Iii Hmn3 Dhmn3 Hmn Iii
Accommodative Esotropia	Esotropia With Accommodative Compensation
Congenital Disorder Of Glycosylation, Type Iil	CDG2L Congenital Disorder Of Glycosylation Type Iil Cdg Iil Cog6-Cgd Cdgiil Cdg Syndrome Type Iil Congenital Disorder Of Glycosylation Type 2l Cdg-Iil Cdgiidl Congenital Disorder Of Glycosylation 2l Glycosylation, Congenital Disorder Of, Type Iil
Congenital Disorder Of Glycosylation, Type In	Congenital Disorder Of Glycosylation CDG1N Congenital Disorders Of Glycosylation Cdg In Cdgin Congenital Disorder Of Glycosylation 1n Carbohydrate-Deficient Glycoprotein Syndrome Cdg Rft1-Cdg Cdg-In Congenital Disorder Of Glycosylation Type In Carbohydrate Deficient Glycoprotein Syndrome Cdg Syndrome Congenital Disorder Of Glycosylation In Carbohydrate-Deficient Glycoprotein Syndromes Cdg Syndrome Type In Carbohydrate Deficient Glycoprotein Syndrome Type In Congenital Disorder Of Glycosylation Type 1n Man5glcnac2-Pp-Dol Flippase Deficiency Glycosylation, Congenital Disorder Of Glycosylation, Congenital Disorder Of, Type In

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (2)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-RS02957	COG8 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-117192	NSC145366 monohydrochloride	Inhibitor	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	COG8	RGD	RGD:1307074
Mus musculus	COG8	MGD	MGI:2142885
Others	COG8	NCBI