Free for academic non-profit institutions. Other users need a Commercial license

Aliases for COG6 Gene

Aliases for COG6 Gene

  • Component Of Oligomeric Golgi Complex 6 2 3 4 5
  • COG Complex Subunit 6 3 4
  • Conserved Oligomeric Golgi Complex Protein 6 3
  • Testicular Tissue Protein Li 41 3
  • Complexed With Dor1p 2 3
  • KIAA1134 4
  • CDG2L 3
  • COD2 3
  • SHNS 3

External Ids for COG6 Gene

Previous GeneCards Identifiers for COG6 Gene

  • GC13P038216
  • GC13P034216
  • GC13P039166
  • GC13P038027
  • GC13P039127
  • GC13P040229
  • GC13P021028

Summaries for COG6 Gene

Entrez Gene Summary for COG6 Gene

  • 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]

GeneCards Summary for COG6 Gene

COG6 (Component Of Oligomeric Golgi Complex 6) is a Protein Coding gene. Diseases associated with COG6 include congenital disorder of glycosylation, type iil and shaheen syndrome. Among its related pathways are Transport to the Golgi and subsequent modification and Vesicle-mediated transport.

UniProtKB/Swiss-Prot for COG6 Gene

  • Required for normal Golgi function.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for COG6 Gene

Genomics for COG6 Gene

Regulatory Elements for COG6 Gene

Promoters for COG6 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around COG6 on UCSC Golden Path with GeneCards custom track

Genomic Location for COG6 Gene

Chromosome:
13
Start:
39,655,627 bp from pter
End:
39,791,665 bp from pter
Size:
136,039 bases
Orientation:
Plus strand

Genomic View for COG6 Gene

Genes around COG6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
COG6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for COG6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for COG6 Gene

Proteins for COG6 Gene

  • Protein details for COG6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y2V7-COG6_HUMAN
    Recommended name:
    Conserved oligomeric Golgi complex subunit 6
    Protein Accession:
    Q9Y2V7
    Secondary Accessions:
    • Q5T0U1
    • Q6AI19
    • Q86V49
    • Q9ULT5

    Protein attributes for COG6 Gene

    Size:
    657 amino acids
    Molecular mass:
    73279 Da
    Quaternary structure:
    • Component of the conserved oligomeric Golgi complex which is composed of eight different subunits and is required for normal Golgi morphology and localization.
    SequenceCaution:
    • Sequence=AAD29633.1; Type=Erroneous translation; Note=Wrong choice of CDS.; Evidence={ECO:0000305};

    Alternative splice isoforms for COG6 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for COG6 Gene

Proteomics data for COG6 Gene at MOPED

Post-translational modifications for COG6 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

No data available for DME Specific Peptides for COG6 Gene

Domains & Families for COG6 Gene

Gene Families for COG6 Gene

Protein Domains for COG6 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for COG6 Gene

Graphical View of Domain Structure for InterPro Entry

Q9Y2V7

UniProtKB/Swiss-Prot:

COG6_HUMAN :
  • Belongs to the COG6 family.
Family:
  • Belongs to the COG6 family.
genes like me logo Genes that share domains with COG6: view

Function for COG6 Gene

Molecular function for COG6 Gene

UniProtKB/Swiss-Prot Function:
Required for normal Golgi function.
genes like me logo Genes that share phenotypes with COG6: view

Human Phenotype Ontology for COG6 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets and HOMER Transcription for COG6 Gene

Localization for COG6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for COG6 Gene

Golgi apparatus membrane; Peripheral membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for COG6 Gene COMPARTMENTS Subcellular localization image for COG6 gene
Compartment Confidence
golgi apparatus 5
cytosol 3
nucleus 3
cytoskeleton 1
mitochondrion 1
peroxisome 1

No data available for Gene Ontology (GO) - Cellular Components for COG6 Gene

Pathways & Interactions for COG6 Gene

genes like me logo Genes that share pathways with COG6: view

Gene Ontology (GO) - Biological Process for COG6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006891 intra-Golgi vesicle-mediated transport IEA,IBA --
genes like me logo Genes that share ontologies with COG6: view

No data available for SIGNOR curated interactions for COG6 Gene

Drugs & Compounds for COG6 Gene

No Compound Related Data Available

Transcripts for COG6 Gene

Unigene Clusters for COG6 Gene

Component of oligomeric golgi complex 6:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for COG6 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10a · 10b · 10c ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21
SP1: -
SP2: - -
SP3: - - -
SP4:
SP5:

Relevant External Links for COG6 Gene

GeneLoc Exon Structure for
COG6
ECgene alternative splicing isoforms for
COG6

Expression for COG6 Gene

mRNA expression in normal human tissues for COG6 Gene

Protein differential expression in normal tissues from HIPED for COG6 Gene

This gene is overexpressed in Bone (59.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for COG6 Gene



SOURCE GeneReport for Unigene cluster for COG6 Gene Hs.507805

genes like me logo Genes that share expression patterns with COG6: view

Protein tissue co-expression partners for COG6 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for COG6 Gene

Orthologs for COG6 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for COG6 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia COG6 35
  • 99.9 (n)
  • 99.85 (a)
COG6 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia COG6 36
  • 95 (a)
OneToOne
COG6 35
  • 92.29 (n)
  • 95.43 (a)
dog
(Canis familiaris)
Mammalia COG6 35
  • 92.74 (n)
  • 94.98 (a)
COG6 36
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cog6 16
Cog6 35
  • 85.44 (n)
  • 91.02 (a)
Cog6 36
  • 91 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia COG6 36
  • 93 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia COG6 36
  • 94 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cog6 35
  • 86 (n)
  • 92.09 (a)
chicken
(Gallus gallus)
Aves COG6 36
  • 88 (a)
OneToOne
COG6 35
  • 80.6 (n)
  • 89.12 (a)
lizard
(Anolis carolinensis)
Reptilia COG6 36
  • 78 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia MGC68662 35
tropical clawed frog
(Silurana tropicalis)
Amphibia cog6 35
  • 76.94 (n)
  • 87.74 (a)
zebrafish
(Danio rerio)
Actinopterygii cog6 36
  • 78 (a)
OneToOne
-- 35
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007586 35
  • 51.46 (n)
  • 44.79 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG1968 36
  • 42 (a)
OneToOne
CG1968 37
  • 50 (a)
CG1968 35
  • 50.77 (n)
  • 43.4 (a)
worm
(Caenorhabditis elegans)
Secernentea cogc-6 36
  • 19 (a)
OneToOne
K07C11.9 37
  • 22 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes COG6 36
  • 14 (a)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G31780 35
  • 46.31 (n)
  • 38.92 (a)
barley
(Hordeum vulgare)
Liliopsida Hv.10396 35
rice
(Oryza sativa)
Liliopsida Os.43918 35
wheat
(Triticum aestivum)
Liliopsida Ta.12037 35
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.15593 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 52 (a)
OneToOne
Species with no ortholog for COG6:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for COG6 Gene

ENSEMBL:
Gene Tree for COG6 (if available)
TreeFam:
Gene Tree for COG6 (if available)

Paralogs for COG6 Gene

No data available for Paralogs for COG6 Gene

Variants for COG6 Gene

Sequence variations from dbSNP and Humsavar for COG6 Gene

SNP ID Clin Chr 13 pos Sequence Context AA Info Type
rs3812882 - 39,655,754(+) TGGTC(A/G/T)CAGTG nc-transcript-variant, upstream-variant-2KB, reference, missense
rs3812883 - 39,655,820(+) CGACC(A/T)GCAAC nc-transcript-variant, upstream-variant-2KB, reference, missense
rs34555836 - 39,687,612(+) AAATG(C/T)ATTCT nc-transcript-variant, reference, missense
rs41286961 - 39,719,291(+) ACTCA(C/T)GTTGC nc-transcript-variant, reference, missense
VAR_068240 Congenital disorder of glycosylation 2L (CDG2L)

Structural Variations from Database of Genomic Variants (DGV) for COG6 Gene

Variant ID Type Subtype PubMed ID
nsv832586 CNV Gain+Loss 17160897
nsv523666 CNV Loss 19592680
esv33028 CNV Gain 17666407
nsv471130 CNV Loss 18288195
esv1608257 CNV Insertion 17803354
nsv1012 CNV Insertion 18451855

Variation tolerance for COG6 Gene

Residual Variation Intolerance Score: 30.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 20.24; 99.05% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for COG6 Gene

HapMap Linkage Disequilibrium report
COG6
Human Gene Mutation Database (HGMD)
COG6

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for COG6 Gene

Disorders for COG6 Gene

MalaCards: The human disease database

(11) MalaCards diseases for COG6 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search COG6 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

COG6_HUMAN
  • Congenital disorder of glycosylation 2L (CDG2L) [MIM:614576]: A multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. Clinical features of CDG2L include neonatal intractable focal seizures, vomiting, loss of consciousness, intracranial bleeding due to vitamin K deficiency, and death in infancy. {ECO:0000269 PubMed:20605848}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Shaheen syndrome (SHNS) [MIM:615328]: An autosomal recessive form of syndromic mental retardation. Affected individuals show severe intellectual disability, hypohidrosis, dental enamel hypoplasia, and hyperkeratosis of the palms and soles. Some may develop mild microcephaly. {ECO:0000269 PubMed:23606727}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for COG6

Genetic Association Database (GAD)
COG6
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
COG6
genes like me logo Genes that share disorders with COG6: view

No data available for Genatlas for COG6 Gene

Publications for COG6 Gene

  1. Characterization of a mammalian Golgi-localized protein complex, COG, that is required for normal Golgi morphology and function. (PMID: 11980916) Ungar D. … Waters M.G. (J. Cell Biol. 2002) 2 3 4 67
  2. A genome-wide association study of psoriasis and psoriatic arthritis identifies new disease loci. (PMID: 18369459) Liu Y. … Bowcock A.M. (PLoS Genet. 2008) 3 23
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  4. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C. … Emili A. (Nature 2015) 3
  5. Target silencing of components of the conserved oligomeric Golgi complex impairs HIV-1 replication. (PMID: 25179963) Liu S. … Dykxhoorn D.M. (Virus Res. 2014) 3

Products for COG6 Gene

Sources for COG6 Gene

Back to Top

Content