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Aliases for COG5 Gene

Aliases for COG5 Gene

  • Component Of Oligomeric Golgi Complex 5 2 3 4 5
  • COG Complex Subunit 5 3 4
  • GOLTC1 3 4
  • GTC90 3 4
  • 13S Golgi Transport Complex 1 90 KDa Subunit 3
  • Conserved Oligomeric Golgi Complex Protein 5 3
  • Conserved Oligomeric Golgi Complex Subunit 5 3
  • Golgi Transport Complex 1 (90 KDa Subunit) 2
  • 13S Golgi Transport Complex 90 KDa Subunit 4
  • Golgi Transport Complex 1 4
  • GTC-90 4
  • CDG2I 3

External Ids for COG5 Gene

Previous HGNC Symbols for COG5 Gene

  • GOLTC1

Previous GeneCards Identifiers for COG5 Gene

  • GC07M105326
  • GC07M106389
  • GC07M106403
  • GC07M106436
  • GC07M106630
  • GC07M106842
  • GC07M101202

Summaries for COG5 Gene

Entrez Gene Summary for COG5 Gene

  • The protein encoded by this gene is one of eight proteins (Cog1-8) which form a Golgi-localized complex (COG) required for normal Golgi morphology and function. The encoded protein is organized with conserved oligomeric Golgi complex components 6, 7 and 8 into a sub-complex referred to as lobe B. Alternative splicing results in multiple transcript variants. Mutations in this gene result in congenital disorder of glycosylation type 2I.[provided by RefSeq, Jan 2011]

GeneCards Summary for COG5 Gene

COG5 (Component Of Oligomeric Golgi Complex 5) is a Protein Coding gene. Diseases associated with COG5 include Congenital Disorder Of Glycosylation, Type Iii. Among its related pathways are Transport to the Golgi and subsequent modification and Vesicle-mediated transport.

UniProtKB/Swiss-Prot for COG5 Gene

  • Required for normal Golgi function.

Gene Wiki entry for COG5 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for COG5 Gene

Genomics for COG5 Gene

Regulatory Elements for COG5 Gene

Enhancers for COG5 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
GH07F107559 1.4 FANTOM5 ENCODE 30 +1.9 1923 6.8 HDGF PKNOX1 CREB3L1 MLX ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 COG5 ENSG00000238832 SLC26A4 SLC26A4-AS1 HBP1 DUS4L GC07M107524
GH07F107166 1.2 ENCODE 33.4 +395.3 395338 5.6 CREB3L1 MLX FEZF1 DMAP1 YY1 SLC30A9 ZNF143 SP3 NFYC TBX21 HBP1 COG5 ENSG00000272072 LAMB1 CBLL1 PRKAR2B
GH07F107594 1.1 Ensembl ENCODE 29 -31.5 -31455 3.7 PKNOX1 FEZF1 RFX5 ZNF366 CEBPB OVOL3 ZEB2 ZNF843 NR2F2 MEF2D COG5 SLC26A4 SLC26A4-AS1 DUS4L PIR46022 ENSG00000238832
GH07F107178 1.1 Ensembl ENCODE 25.9 +384.3 384312 2.5 HDAC1 PKNOX1 INSM2 FEZF1 RFX5 ZNF121 ZNF366 FOS CEBPB ZFP69B COG5 BCAP29 HBP1 ENSG00000272072
GH07F107742 1.2 ENCODE 21.9 -180.0 -179986 4.8 HDGF PKNOX1 ARNT CREB3L1 WRNIP1 ARID4B SIN3A DMAP1 ZNF2 YY1 HBP1 RPL7P32 ENSG00000272072 LOC101927974 COG5 LAMB1 CBLL1 PIK3CG SLC26A4 SLC26A4-AS1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around COG5 on UCSC Golden Path with GeneCards custom track

Promoters for COG5 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001562763 814 2201 HDGF PKNOX1 CREB3L1 MLX ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1

Genomic Location for COG5 Gene

Chromosome:
7
Start:
107,201,555 bp from pter
End:
107,564,514 bp from pter
Size:
362,960 bases
Orientation:
Minus strand

Genomic View for COG5 Gene

Genes around COG5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
COG5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for COG5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for COG5 Gene

Proteins for COG5 Gene

  • Protein details for COG5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UP83-COG5_HUMAN
    Recommended name:
    Conserved oligomeric Golgi complex subunit 5
    Protein Accession:
    Q9UP83
    Secondary Accessions:
    • A4D0R6
    • A4D0R7
    • O14555
    • O95008
    • Q6NUL5

    Protein attributes for COG5 Gene

    Size:
    839 amino acids
    Molecular mass:
    92743 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.

    Alternative splice isoforms for COG5 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for COG5 Gene

Post-translational modifications for COG5 Gene

  • Ubiquitination at Lys 488
  • Modification sites at PhosphoSitePlus

Other Protein References for COG5 Gene

No data available for DME Specific Peptides for COG5 Gene

Domains & Families for COG5 Gene

Gene Families for COG5 Gene

Protein Domains for COG5 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for COG5 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9UP83

UniProtKB/Swiss-Prot:

COG5_HUMAN :
  • Belongs to the COG5 family.
Family:
  • Belongs to the COG5 family.
genes like me logo Genes that share domains with COG5: view

Function for COG5 Gene

Molecular function for COG5 Gene

UniProtKB/Swiss-Prot Function:
Required for normal Golgi function.

Gene Ontology (GO) - Molecular Function for COG5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0005515 protein binding IPI 15047703
genes like me logo Genes that share ontologies with COG5: view
genes like me logo Genes that share phenotypes with COG5: view

Human Phenotype Ontology for COG5 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for COG5 Gene

Localization for COG5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for COG5 Gene

Cytoplasm, cytosol. 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 COG5 gene
Compartment Confidence
nucleus 5
golgi apparatus 5
cytosol 4
mitochondrion 1

Gene Ontology (GO) - Cellular Components for COG5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA --
GO:0005794 Golgi apparatus IEA,IDA 11980916
GO:0005829 cytosol IEA --
genes like me logo Genes that share ontologies with COG5: view

Pathways & Interactions for COG5 Gene

genes like me logo Genes that share pathways with COG5: view

Gene Ontology (GO) - Biological Process for COG5 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,NAS 9792665
GO:0015031 protein transport IEA --
genes like me logo Genes that share ontologies with COG5: view

No data available for SIGNOR curated interactions for COG5 Gene

Transcripts for COG5 Gene

Unigene Clusters for COG5 Gene

Component of oligomeric golgi complex 5:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for COG5 Gene

No ASD Table

Relevant External Links for COG5 Gene

GeneLoc Exon Structure for
COG5
ECgene alternative splicing isoforms for
COG5

Expression for COG5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for COG5 Gene

Protein differential expression in normal tissues from HIPED for COG5 Gene

This gene is overexpressed in Bone (61.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for COG5 Gene



Protein tissue co-expression partners for COG5 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of COG5 Gene:

COG5

SOURCE GeneReport for Unigene cluster for COG5 Gene:

Hs.239631
genes like me logo Genes that share expression patterns with COG5: 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 COG5 Gene

Orthologs for COG5 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for COG5 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia COG5 34 35
  • 99.5 (n)
cow
(Bos Taurus)
Mammalia COG5 34 35
  • 92 (n)
dog
(Canis familiaris)
Mammalia COG5 34 35
  • 91.65 (n)
mouse
(Mus musculus)
Mammalia Cog5 34 16 35
  • 88.54 (n)
rat
(Rattus norvegicus)
Mammalia RGD1563296 34
  • 87.02 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia COG5 35
  • 85 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia COG5 35
  • 77 (a)
OneToOne
chicken
(Gallus gallus)
Aves COG5 34 35
  • 79.78 (n)
lizard
(Anolis carolinensis)
Reptilia COG5 35
  • 83 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cog5 34
  • 74.69 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.15254 34
zebrafish
(Danio rerio)
Actinopterygii cog5 34 35
  • 69.16 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10229 34
fruit fly
(Drosophila melanogaster)
Insecta fws 36 35
  • 25 (a)
worm
(Caenorhabditis elegans)
Secernentea cogc-5 35
  • 24 (a)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G67930 34
  • 44.8 (n)
rice
(Oryza sativa)
Liliopsida Os05g0378900 34
  • 41.93 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5851 35
  • 54 (a)
OneToOne
Species where no ortholog for COG5 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • 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)
  • 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)
  • wheat (Triticum aestivum)

Evolution for COG5 Gene

ENSEMBL:
Gene Tree for COG5 (if available)
TreeFam:
Gene Tree for COG5 (if available)

Paralogs for COG5 Gene

No data available for Paralogs for COG5 Gene

Variants for COG5 Gene

Sequence variations from dbSNP and Humsavar for COG5 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs41276187 Likely benign 107,298,208(+) CAACA(C/T)AGAGG nc-transcript-variant, reference, missense
rs202123650 Uncertain significance 107,563,882(+) CTGCC(A/C/G)CCGCC nc-transcript-variant, upstream-variant-2KB, reference, synonymous-codon
rs398124222 Uncertain significance 107,230,679(-) TGGCT(A/G)TGGGT nc-transcript-variant, reference, missense
rs749445329 Uncertain significance 107,230,691(+) CTCCA(C/T)CTGAA nc-transcript-variant, reference, missense
rs768962367 Uncertain significance 107,324,452(+) TGCCA(C/T)ATGAA nc-transcript-variant, reference, missense

Structural Variations from Database of Genomic Variants (DGV) for COG5 Gene

Variant ID Type Subtype PubMed ID
nsv831087 CNV gain 17160897
nsv824250 CNV loss 20364138
nsv819371 CNV loss 19587683
nsv7404 OTHER inversion 18451855
nsv608074 CNV loss 21841781
nsv608073 CNV loss 21841781
nsv513680 OTHER inversion 21212237
nsv513679 OTHER inversion 21212237
nsv510107 OTHER sequence alteration 20534489
nsv478382 CNV novel sequence insertion 20440878
nsv477613 CNV novel sequence insertion 20440878
nsv436679 OTHER inversion 17901297
nsv1133104 OTHER inversion 24896259
nsv1033064 CNV loss 25217958
nsv1024793 CNV loss 25217958
esv3614461 CNV loss 21293372
esv3614460 CNV loss 21293372
esv3614459 CNV loss 21293372
esv3614458 CNV loss 21293372
esv3614456 CNV loss 21293372
esv3572050 CNV loss 25503493
esv3440994 CNV insertion 20981092
esv3307220 CNV mobile element insertion 20981092
esv2734987 CNV deletion 23290073
esv2734986 CNV deletion 23290073
esv2669357 CNV deletion 23128226
esv2664236 CNV deletion 23128226
esv2659843 CNV deletion 23128226
esv2614488 OTHER inversion 19546169
esv1631266 OTHER inversion 17803354
esv1007164 OTHER inversion 20482838
dgv6548n100 CNV gain 25217958
dgv53n47 OTHER inversion 21111241
dgv3918e59 OTHER inversion 20981092
dgv124n16 OTHER inversion 17901297

Variation tolerance for COG5 Gene

Residual Variation Intolerance Score: 57% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.72; 73.22% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for COG5 Gene

Human Gene Mutation Database (HGMD)
COG5
SNPedia medical, phenotypic, and genealogical associations of SNPs for
COG5

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for COG5 Gene

Disorders for COG5 Gene

MalaCards: The human disease database

(1) MalaCards diseases for COG5 Gene - From: OMIM, ClinVar, and Orphanet

Disorder Aliases PubMed IDs
congenital disorder of glycosylation, type iii
  • carbohydrate deficient glycoprotein syndrome type iii
- elite association - COSMIC cancer census association via MalaCards
Search COG5 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

COG5_HUMAN
  • Congenital disorder of glycosylation 2I (CDG2I) [MIM:613612]: 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. Congenital disorder of glycosylation type 2I is characterized by mild neurological impairments. {ECO:0000269 PubMed:19690088}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for COG5

Genetic Association Database (GAD)
COG5
Human Genome Epidemiology (HuGE) Navigator
COG5
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
COG5
genes like me logo Genes that share disorders with COG5: view

No data available for Genatlas for COG5 Gene

Publications for COG5 Gene

  1. Deficiency in COG5 causes a moderate form of congenital disorders of glycosylation. (PMID: 19690088) Paesold-Burda P. … Hennet T. (Hum. Mol. Genet. 2009) 3 4 22 64
  2. Purification and characterization of a novel 13 S hetero-oligomeric protein complex that stimulates in vitro Golgi transport. (PMID: 9792665) Walter D.M. … Waters M.G. (J. Biol. Chem. 1998) 2 3 4 64
  3. Meta-analysis of genome-wide association studies confirms a susceptibility locus for knee osteoarthritis on chromosome 7q22. (PMID: 21068099) Evangelou E. … Spector T.D. (Ann. Rheum. Dis. 2011) 3 46 64
  4. A genome-wide association study identifies an osteoarthritis susceptibility locus on chromosome 7q22. (PMID: 20112360) Kerkhof H.J. … van Meurs J.B. (Arthritis Rheum. 2010) 3 46 64
  5. The DNA sequence of human chromosome 7. (PMID: 12853948) Hillier L.W. … Wilson R.K. (Nature 2003) 3 4 64

Products for COG5 Gene

Sources for COG5 Gene

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