COG6 - component of oligomeric golgi complex 6 Gene

Also Known as COD2; SHNS; CDG2L

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 57511

About COG6

Cytogenetic location: 13q14.11 Genomic coordinates (GRCh38): 13:39,655,627-39,791,666 (from NCBI)

This gene has 12 transcripts (splice variants), 203 orthologues and is associated with 4 phenotypes. Ubiquitous expression in testis (RPKM 7.0), thyroid (RPKM 5.7) and 25 other tissues.

Summary

This gene encodes a subunit of the conserved oligomeric Golgi complex that is required for maintaining normal structure and activity of the Golgi apparatus. The encoded protein is organized with conserved oligomeric Golgi complex components 5, 7 and 8 into a sub-complex referred to as lobe B. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Feb 2009]

COG6 Products (2)

mRNA Protein Name
NM_001145079.2 NP_001138551.1 conserved oligomeric Golgi complex subunit 6 isoform 2
NM_020751.3 NP_065802.1 conserved oligomeric Golgi complex subunit 6 isoform 1
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
27107012 GOA
Biological Process GO Annotation Evidence References Source
involved in Golgi organization IMP
IMP: Inferred from mutant phenotype
27066481 GOA
involved in glycosylation IMP
IMP: Inferred from mutant phenotype
20605848 GOA
involved in retrograde transport, vesicle recycling within Golgi IMP
IMP: Inferred from mutant phenotype
27066481 GOA
Cellular Component GO Annotation Evidence References 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

COG6 Protein Structure

COG6

COG6: Conserved oligomeric complex COG6 (55 - 656)

  • 0
  • 200
  • 400
  • 600
  • 657 a.a.
Protein Preferred Names Protein Names

conserved oligomeric Golgi complex subunit 6

  • COG complex subunit 6

COG6 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
COG6 Q9Y2V7 SNAP29 Homo sapiens O95721 33961781
Intra
COG6 Q9Y2V7 ARHGEF5 Homo sapiens Q12774 27107012
Intra
COG6 Q9Y2V7 ZBTB16 Homo sapiens Q05516 27107012
Intra
COG6 Q9Y2V7 WASHC3 Homo sapiens Q9Y3C0 32296183
Intra
COG6 Q9Y2V7 SCNM1 Homo sapiens Q9BWG6 27107012
Intra
COG6 Q9Y2V7 BCL10 Homo sapiens O95999 27107012
Cross: Cross-species interaction Intra: Intraspecies interaction

COG6 Antibodies

Cat. No. Product Name Application Reactivity
HY-P82785 COG6 Antibody (YA2530) WB Human, Mouse
HY-P82785A COG6 Antibody (YA2530)(PBS only) WB Human, Mouse

Related Diseases

Diseases Alias
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

Shaheen Syndrome
  • Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome

  • SHNS

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

Congenital Disorder Of Glycosylation, Type Iiq
  • CDG2Q

  • Cdg Iiq

  • Cdgiiq

  • Congenital Disorder Of Glycosylation Type Iiq

  • Cog2-Cdg

  • Cog2-Related Congenital Disorder Of Glycosylation

  • Cdgiidq

  • Congenital Disorder Of Glycosylation 2q

  • Cdg-Iiq

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

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 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

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

Microcephaly
  • Microencephaly

  • Microcephalus

  • Microcephalic

  • Nanocephaly

  • Congenital Microcephaly

  • Brain Hypoplasia

  • Brain Nondevelopment

  • Cephalic Hypoplasia

  • Undeveloped Cerebrum

  • Undeveloped Brain

  • Micrencephalon

  • Micrencephaly

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

Orthologs Information

Species Symbol Source ID
Canis familiaris COG6 VGNC VGNC:39452
Felis catus COG6 VGNC VGNC:61049
Rattus norvegicus COG6 RGD RGD:1303283
Mus musculus COG6 MGD MGI:1914792
Bos taurus COG6 VGNC VGNC:27550
Macaca mulatta COG6 VGNC VGNC:71207
Others COG6 NCBI