COG8 - component of oligomeric golgi complex 8 Gene

Homo sapiens

Also known as DOR1; CDG2H

Gene ID: 84342 | Gene type: protein coding

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	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	25416956	GOA

Biological Process GO Annotation	Evidence	Reference	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	Reference	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 Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS02957	COG8 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

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

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