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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 Golgi-to-ER retrograde transport and Retrograde transport at the Trans-Golgi-Network.

UniProtKB/Swiss-Prot for COG6 Gene

  • Required for normal Golgi function.

Additional gene information for COG6 Gene

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
GH13H039655 1 ENCODE 61.6 +0.2 170 1 ARID4B SIN3A DMAP1 GLI4 YY1 ETS1 GLIS2 ELK1 ZNF143 RUNX3 COG6 MIR4305
GH13H039775 1.3 FANTOM5 Ensembl ENCODE 23.4 +121.7 121724 3 CTCF PKNOX1 JUN CEBPG RAD21 RELA FOSL1 CTBP1 GATA3 POLR2A COG6 ENSG00000212553 GC13P039785 GC13P039748
GH13H040584 1.4 Ensembl ENCODE dbSUPER 11.2 +932.6 932584 6 PKNOX1 TBL1XR1 ARID4B BMI1 BATF RAD21 ATF7 ETV6 RUNX3 IKZF2 TPTE2P5 FOXO1 COG6 SLC25A15 WBP4 RLIMP1 GC13P040543
GH13H040636 1.2 Ensembl ENCODE dbSUPER 9.9 +983.3 983313 4 JUN ZNF140 NR2F2 JUND PRDM6 ATF3 FOS NR2F6 ZNF600 TRIM28 NAA16 FOXO1 TPTE2P5 COG6 CYCSP34 WBP4 GC13P040625 PIR36841
GH13H039385 0.9 ENCODE 10 -269.7 -269699 1 PKNOX1 INSM2 FEZF1 ZNF2 ZNF121 ZNF366 ZSCAN5C SCRT2 KLF7 ZNF362 NHLRC3 COG6 GC13M039383 GC13M039390
- 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 ARID4B SIN3A DMAP1 GLI4 YY1 GLIS2 ELK1 RUNX3 SP3 SP5

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

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

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

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.

Phenotypes From GWAS Catalog for COG6 Gene

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

Clone Products

  • Applied Biological Materials Clones for COG6
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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

COMPARTMENTS
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

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (2)
  • Nuclear speckles (2)
See all subcellular structures

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 IDA,IEA 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

Clone Products

  • Applied Biological Materials Clones for COG6
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 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:

COG6

SOURCE GeneReport for Unigene cluster for COG6 Gene:

Hs.507805

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
Systems:
  • cardiovascular
  • integumentary
  • nervous
  • skeleton
Organs:
Head and neck:
  • brain
  • ear
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • skull
  • tooth
Thorax:
  • heart
Limb:
  • foot
  • hand
  • lower limb
  • upper limb
General:
  • 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
chimpanzee
(Pan troglodytes)
Mammalia COG6 33 34
  • 99.9 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia COG6 34
  • 94 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia COG6 34
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia COG6 33 34
  • 92.74 (n)
cow
(Bos Taurus)
Mammalia COG6 33 34
  • 92.29 (n)
rat
(Rattus norvegicus)
Mammalia Cog6 33
  • 86 (n)
mouse
(Mus musculus)
Mammalia Cog6 33 16 34
  • 85.44 (n)
chicken
(Gallus gallus)
Aves COG6 33 34
  • 80.6 (n)
lizard
(Anolis carolinensis)
Reptilia COG6 34
  • 78 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cog6 33
  • 76.94 (n)
African clawed frog
(Xenopus laevis)
Amphibia MGC68662 33
zebrafish
(Danio rerio)
Actinopterygii cog6 34
  • 78 (a)
OneToOne
-- 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007586 33
  • 51.46 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG1968 35 33 34
  • 50.77 (n)
worm
(Caenorhabditis elegans)
Secernentea K07C11.9 35
  • 22 (a)
cogc-6 34
  • 19 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes COG6 34
  • 14 (a)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G31780 33
  • 46.31 (n)
barley
(Hordeum vulgare)
Liliopsida Hv.10396 33
rice
(Oryza sativa)
Liliopsida Os.43918 33
wheat
(Triticum aestivum)
Liliopsida Ta.12037 33
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 52 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.15593 33
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

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
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)
COG6
SNPedia medical, phenotypic, and genealogical associations of SNPs for
COG6

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

Disorders for COG6 Gene

MalaCards: The human disease database

(6) MalaCards diseases for COG6 Gene - From: HGMD, 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
hypohidrosis
  • 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

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. A genome-wide association study of psoriasis and psoriatic arthritis identifies new disease loci. (PMID: 18369459) Liu Y … Bowcock AM (PLoS genetics 2008) 3 22 45 60
  2. Characterization of a mammalian Golgi-localized protein complex, COG, that is required for normal Golgi morphology and function. (PMID: 11980916) Ungar D … Waters MG (The Journal of cell biology 2002) 2 3 4 60
  3. A novel syndrome of hypohidrosis and intellectual disability is linked to COG6 deficiency. (PMID: 23606727) Shaheen R … Alkuraya FS (Journal of medical genetics 2013) 3 4 60
  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) Lübbehusen J … Körner C (Human molecular genetics 2010) 3 4 60
  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 research : an international journal for rapid publication of reports on genes and genomes 1999) 3 4 60

Products for COG6 Gene

Sources for COG6 Gene

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