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Aliases for COG6 Gene

Aliases for COG6 Gene

  • Component Of Oligomeric Golgi Complex 6 2 3 4
  • COG Complex Subunit 6 3 4
  • KIAA1134 4 6
  • CDG2L 3 6
  • COD2 3 6
  • SHNS 3 6
  • Conserved Oligomeric Golgi Complex Protein 6 3
  • Conserved Oligomeric Golgi Complex Subunit 6 3
  • Complexed With Dor1p 2 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 shaheen syndrome and hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome.

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

Genomic Location for COG6 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

No data available for DME Specific Peptides for COG6 Gene

Domains for COG6 Gene

Gene Families for COG6 Gene

HGNC:
  • COG :Components of oligomeric golgi complex

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 :
  • Q9Y2V7
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.

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Phenotypes , Animal Models , miRNA , Transcription Factor Targeting 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 2
nucleus 2
cytoskeleton 1
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for COG6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IEA --
GO:0016020 membrane --
GO:0017119 Golgi transport complex IDA 15047703
genes like me logo Genes that share ontologies with COG6: view

Pathways for COG6 Gene

SuperPathways for COG6 Gene

No Data Available

Gene Ontology (GO) - Biological Process for COG6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006891 intra-Golgi vesicle-mediated transport IBA --
GO:0015031 protein transport IEA --
GO:0070085 glycosylation IMP 20605848
genes like me logo Genes that share ontologies with COG6: view

No data available for Pathways by source for COG6 Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression 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 expressions with COG6: view

No data available for 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 35
  • 92.29 (n)
  • 95.43 (a)
COG6 36
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia COG6 35
  • 92.74 (n)
  • 94.98 (a)
COG6 36
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cog6 35
  • 85.44 (n)
  • 91.02 (a)
Cog6 16
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 35
  • 80.6 (n)
  • 89.12 (a)
COG6 36
  • 88 (a)
OneToOne
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 -- 35
cog6 36
  • 78 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007586 35
  • 51.46 (n)
  • 44.79 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG1968 35
  • 50.77 (n)
  • 43.4 (a)
CG1968 36
  • 42 (a)
OneToOne
CG1968 37
  • 50 (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 MAF
rs9943 -- 39,752,145(-) TTTGC(C/T)GACAA intron-variant, utr-variant-3-prime, nc-transcript-variant
rs3000476 -- 39,762,989(+) tatta(A/G)ttatg intron-variant
rs3000477 -- 39,763,043(+) gatca(C/T)ttggc intron-variant
rs3000478 -- 39,763,492(+) ttaag(A/G)aagtt intron-variant
rs3000479 -- 39,739,325(+) GATTT(A/C/T)AAAAA intron-variant

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

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

(2) OMIM Diseases for COG6 Gene (606977)

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

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
  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 48
  3. Characterization of cDNA clones selected by the GeneMark analysis from size-fractionated cDNA libraries from human brain. (PMID: 10574461) Hirosawa M. … Ohara O. (DNA Res. 1999) 3 4
  4. Fatal outcome due to deficiency of subunit 6 of the conserved oligomeric Golgi complex leading to a new type of congenital disorders of glycosylation. (PMID: 20605848) Lubbehusen J. … Korner C. (Hum. Mol. Genet. 2010) 3 4
  5. A novel syndrome of hypohidrosis and intellectual disability is linked to COG6 deficiency. (PMID: 23606727) Shaheen R. … Alkuraya F.S. (J. Med. Genet. 2013) 3 4

Products for COG6 Gene

Sources for COG6 Gene

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