COG5 - component of oligomeric golgi complex 5 Gene

Homo sapiens

Also known as CDG2I; GTC90; GOLTC1

Gene ID: 10466 | Gene type: protein coding

About COG5

Cytogenetic location: 7q22.3 Genomic coordinates (GRCh38): 7:107,201,372-107,563,920 (from NCBI)

This gene has 10 transcripts (splice variants), 1 gene allele, 215 orthologues and is associated with 3 phenotypes. Ubiquitous expression in thyroid (RPKM 12.7), prostate (RPKM 10.2) and 25 other tissues.

Summary

The protein encoded by this gene is one of eight proteins (Cog1-8) which form a Golgi-localized complex (COG) required for normal Golgi morphology and function. The encoded protein is organized with conserved oligomeric Golgi complex components 6, 7 and 8 into a sub-complex referred to as lobe B. Alternative splicing results in multiple transcript variants. Mutations in this gene result in congenital disorder of glycosylation type 2I.[provided by RefSeq, Jan 2011]

COG5 Products(9)

mRNA	Protein	Name
NM_001161520.2	NP_001154992.2	conserved oligomeric Golgi complex subunit 5 isoform 3
NM_001379511.1	NP_001366440.1	conserved oligomeric Golgi complex subunit 5 isoform 4
NM_001379512.1	NP_001366441.1	conserved oligomeric Golgi complex subunit 5 isoform 5
NM_001379513.1	NP_001366442.1	conserved oligomeric Golgi complex subunit 5 isoform 6
NM_001379514.1	NP_001366443.1	conserved oligomeric Golgi complex subunit 5 isoform 7
NM_001379515.1	NP_001366444.1	conserved oligomeric Golgi complex subunit 5 isoform 8
NM_001379516.1	NP_001366445.1	conserved oligomeric Golgi complex subunit 5 isoform 9
NM_006348.5	NP_006339.4	conserved oligomeric Golgi complex subunit 5 isoform 1
NM_181733.4	NP_859422.3	conserved oligomeric Golgi complex subunit 5 isoform 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	15047703	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
acts upstream of or within inter-Golgi cisterna vesicle-mediated transport	IDA IDA: Inferred from direct assay	9792665	GOA
involved in retrograde transport, vesicle recycling within Golgi	IMP IMP: Inferred from mutant phenotype	27066481	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in Golgi apparatus	IDA IDA: Inferred from direct assay	9792665	GOA
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

COG5 Protein Structure

COG5

0
200
400
600
839 a.a.

Protein Preferred Names

Protein Names

conserved oligomeric Golgi complex subunit 5

13S golgi transport complex 1 90 kDa subunit

Related Diseases

Diseases

Alias

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

Cog5-Congenital Disorder Of Glycosylation

Carbohydrate Deficient Glycoprotein Syndrome Type Iii	Cdg2i
Cdgiii	Congenital Disorder Of Glycosylation Type Iii
Congenital Disorder Of Glycosylation, Type I-Iix	Congenital Disorder Of Glycosylation, Type Iii

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

Saul-Wilson Syndrome

Microcephalic Osteodysplastic Dysplasia	Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type
SWILS	Microcephalic Osteodysplastic Dysplasia Saul Wilson Type

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

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 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

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 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

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 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

Visual Cortex Disease

Visual Cortex Dysfunction	Visual Cortex Disorder
Visual Cortical Disorder	Disease Of Visual Cortex

Microcephaly

Microencephaly	Microcephalus
Microcephalic	Nanocephaly
Congenital Microcephaly	Brain Hypoplasia
Brain Nondevelopment	Cephalic Hypoplasia
Undeveloped Cerebrum	Undeveloped Brain
Micrencephalon	Micrencephaly

Cone-Rod Dystrophy 2

Cone-Rod Dystrophy	CORD2
Cone-Rod Retinal Dystrophy	Rcrd2
Cone-Rod Retinal Dystrophy 2	Crd2
Cord	Crd
Retinal Cone-Rod Dystrophy	Cone-Rod Retinal Dystrophy-2
Retinal Cone-Rod Dystrophy 2	Tapetoretinal Degeneration
Cone-Rod Degeneration	Cone Rod Dystrophy
Dystrophy, Cone-Rod	Dystrophy, Cone-Rod, Type 2
Retinitis Pigmentosa	Retinitis Pigmentosa 2
Progressive Cone-Rod Dystrophy

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-RS02954	COG5 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	COG5	VGNC	VGNC:53634
Mus musculus	COG5	MGD	MGI:2145130
Rattus norvegicus	COG5	RGD	RGD:1563296
Macaca mulatta	COG5	VGNC	VGNC:71180
Canis familiaris	COG5	VGNC	VGNC:39451
Felis catus	COG5	VGNC	VGNC:61048

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