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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
  • Conserved Oligomeric Golgi Complex Subunit 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 Intra-Golgi traffic and Vesicle-mediated transport.

UniProtKB/Swiss-Prot for COG6 Gene

  • Required for normal Golgi function.

No data available for CIViC summary , 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

Enhancers for COG6 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH13G039655 1 ENCODE 61.6 +0.2 170 1.6 CREB3L1 ARID4B SIN3A DMAP1 GLI4 ZNF48 YY1 ETS1 GLIS2 GATA2 COG6 MIR4305
GH13G039775 1.5 FANTOM5 Ensembl ENCODE 23.4 +121.7 121724 3.9 ELF3 PKNOX1 DMAP1 RAD21 YY1 RARA GATA2 SCRT2 RCOR1 FOS COG6 ENSG00000212553 GC13P039785 GC13P039748
GH13G039810 1 Ensembl ENCODE 11.2 +155.5 155458 0.9 CTCF MAX GLI4 FEZF1 SALL2 RAD21 ZNF644 ZNF335 ZNF366 NR2F6 COG6 ENSG00000212553 NHLRC3 CDKN2AIPNLP3 GC13M039786 RNY4P14
GH13G039801 0.7 ENCODE 9.4 +147.5 147505 2.4 PKNOX1 RFX1 NFIB MNT DPF2 ZNF592 FOXA1 CTBP1 GATA3 POLR2A ENSG00000212553 COG6 CDKN2AIPNLP3 RNY4P14 GC13M039786
GH13G039809 0.5 ENCODE 12.3 +154.2 154226 0.6 RCOR2 ZMYM3 KDM1A ZNF48 COG6 ENSG00000212553 CDKN2AIPNLP3 GC13M039786 RNY4P14
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around COG6 on UCSC Golden Path with GeneCards custom track

Promoters for COG6 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000061538 374 1600 CREB3L1 ARID4B SIN3A DMAP1 GLI4 ZNF48 YY1 GLIS2 GATA2 ELK1

Genomic Location for COG6 Gene

39,655,627 bp from pter
39,791,665 bp from pter
136,039 bases
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:
    Recommended name:
    Conserved oligomeric Golgi complex subunit 6
    Protein Accession:
    Secondary Accessions:
    • Q5T0U1
    • Q6AI19
    • Q86V49
    • Q9ULT5

    Protein attributes for COG6 Gene

    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.
    • Sequence=AAD29633.1; Type=Erroneous translation; Note=Wrong choice of CDS.; Evidence={ECO:0000305};

    Alternative splice isoforms for COG6 Gene


neXtProt entry for COG6 Gene

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 & Families for COG6 Gene

Gene Families for COG6 Gene

Protein Domains for COG6 Gene


Suggested Antigen Peptide Sequences for COG6 Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the COG6 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.

Gene Ontology (GO) - Molecular Function for COG6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 27107012
genes like me logo Genes that share ontologies with COG6: view
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 Models for COG6 Gene

MGI Knock Outs for COG6:
  • Cog6 tm1a(EUCOMM)Wtsi

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , 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

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for COG6 gene
Compartment Confidence
golgi apparatus 5
nucleus 3
cytosol 3
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 TAS --
GO:0005794 Golgi apparatus IEA --
GO:0016020 membrane IEA --
GO:0017119 Golgi transport complex IEA,IDA 15047703
GO:0032588 trans-Golgi network membrane TAS --
genes like me logo Genes that share ontologies with COG6: view

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:0006810 transport IEA --
GO:0006888 ER to Golgi vesicle-mediated transport TAS --
GO:0006891 intra-Golgi vesicle-mediated transport IEA,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 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:

CRISPR Products

Inhibitory RNA Products

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: - - -

Relevant External Links for COG6 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for COG6 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE 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

Protein tissue co-expression partners for COG6 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of COG6 Gene:


SOURCE GeneReport for Unigene cluster for COG6 Gene:


Evidence on tissue expression from TISSUES for COG6 Gene

  • Nervous system(4.8)
  • Skin(4.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for COG6 Gene

Germ Layers:
  • ectoderm
  • mesoderm
  • cardiovascular
  • integumentary
  • nervous
  • skeleton
Head and neck:
  • brain
  • ear
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • skull
  • tooth
  • heart
  • foot
  • hand
  • lower limb
  • upper limb
  • blood vessel
  • skin
  • sweat gland
genes like me logo Genes that share expression patterns with COG6: view

Primer 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
(Pan troglodytes)
Mammalia COG6 34 35
  • 99.9 (n)
(Ornithorhynchus anatinus)
Mammalia COG6 35
  • 94 (a)
(Monodelphis domestica)
Mammalia COG6 35
  • 93 (a)
(Canis familiaris)
Mammalia COG6 34 35
  • 92.74 (n)
(Bos Taurus)
Mammalia COG6 34 35
  • 92.29 (n)
(Rattus norvegicus)
Mammalia Cog6 34
  • 86 (n)
(Mus musculus)
Mammalia Cog6 34 16 35
  • 85.44 (n)
(Gallus gallus)
Aves COG6 34 35
  • 80.6 (n)
(Anolis carolinensis)
Reptilia COG6 35
  • 78 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia cog6 34
  • 76.94 (n)
African clawed frog
(Xenopus laevis)
Amphibia MGC68662 34
(Danio rerio)
Actinopterygii cog6 35
  • 78 (a)
-- 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007586 34
  • 51.46 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG1968 36 34 35
  • 50.77 (n)
(Caenorhabditis elegans)
Secernentea K07C11.9 36
  • 22 (a)
cogc-6 35
  • 19 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes COG6 35
  • 14 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G31780 34
  • 46.31 (n)
(Hordeum vulgare)
Liliopsida Hv.10396 34
(Oryza sativa)
Liliopsida Os.43918 34
(Triticum aestivum)
Liliopsida Ta.12037 34
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 52 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.15593 34
Species where no ortholog for COG6 was found in the sources mined by GeneCards:
  • 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

Gene Tree for COG6 (if available)
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
rs387906959 Pathogenic, Congenital disorder of glycosylation 2L (CDG2L) [MIM:614576] 39,723,394(+) GGTAG(C/G/T)CTTGA nc-transcript-variant, reference, missense
rs730882236 Pathogenic 39,699,477(+) TTGCA(A/G)CCTGA intron-variant
rs781641023 Pathogenic 39,694,633(+) TAATA(A/G/T)GTTCG splice-acceptor-variant
rs794726950 Pathogenic 39,655,838(+) CGCGC(A/T)AGCTG nc-transcript-variant, reference, stop-gained
rs142947196 Likely benign 39,751,408(+) AAGAA(-/T)TTTTT intron-variant, nc-transcript-variant, utr-variant-3-prime

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

Variant ID Type Subtype PubMed ID
esv1608257 CNV insertion 17803354
esv33028 CNV gain 17666407
esv3631837 CNV gain 21293372
nsv1012 CNV insertion 18451855
nsv1054600 CNV gain 25217958
nsv471130 CNV loss 18288195
nsv472047 CNV novel sequence insertion 20440878
nsv523666 CNV loss 19592680
nsv832586 CNV gain+loss 17160897

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

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

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

Disorders for COG6 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
congenital disorder of glycosylation, type iil
  • cog6-cgd
shaheen syndrome
  • hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome
  • oligohidrosis
congenital disorder of glycosylation, type iih
  • cog8-cdg
corneal dystrophy, posterior amorphous
  • posterior amorphous corneal dystrophy
- elite association - COSMIC cancer census association via MalaCards
Search COG6 in MalaCards View complete list of genes associated with diseases


  • 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)
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with COG6: view

No data available for Genatlas for COG6 Gene

Publications for COG6 Gene

  1. 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 22 46 64
  2. 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 64
  3. 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 64
  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 64
  5. 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 64

Products for COG6 Gene

Sources for COG6 Gene

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