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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
  • 13S Golgi Transport Complex 90 KDa Subunit 4
  • Golgi Transport Complex 1 (90 KDa Subunit) 2
  • 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 Metabolism of proteins.

UniProtKB/Swiss-Prot for COG5 Gene

  • Required for normal Golgi function.

Gene Wiki entry for COG5 Gene

Additional gene information for COG5 Gene

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

Genomics for COG5 Gene

GeneHancer (GH) Regulatory Elements for COG5 Gene

Promoters and enhancers for COG5 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH07J107559 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 680 +1.9 1923 6.8 HDGF PKNOX1 MLX ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 ZBTB7B COG5 DUS4L ENSG00000272854 ENSG00000272072 ENSG00000238832 SLC26A4-AS1 SLC26A4 HBP1 GC07M107524
GH07J107660 Promoter/Enhancer 1.5 EPDnew Ensembl ENCODE 650.2 -97.0 -97013 1.5 ARID4B KLF17 SIN3A ZNF2 RAD21 ZNF335 ZNF121 GLIS2 SCRT2 ZEB2 SLC26A4 SLC26A4-AS1 COG5
GH07J107166 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE dbSUPER 40.8 +395.3 395337 5.6 CLOCK MLX FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 HBP1 ENSG00000272072 COG5 CBLL1 ENSG00000273055 LAMB1 PRKAR2B
GH07J107044 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 16.2 +517.9 517901 5.2 HDGF PKNOX1 SMAD1 ARNT ARID4B SIN3A FEZF1 ZNF2 YY1 CBX5 PRKAR2B COG5 ENSG00000272072 HBP1 LAMB1 CBLL1 ENSG00000273055 GPR22 GC07M107108
GH07J107178 Enhancer 1.2 Ensembl ENCODE dbSUPER 25.9 +384.3 384311 2.5 PKNOX1 NFIB INSM2 FEZF1 RFX5 ZNF121 EGR1 ZNF366 FOS DEK COG5 BCAP29 ENSG00000272072 HBP1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around COG5 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the COG5 gene promoter:

Genomic Locations for COG5 Gene

Genomic Locations for COG5 Gene
chr7:107,201,555-107,564,514
(GRCh38/hg38)
Size:
362,960 bases
Orientation:
Minus strand
chr7:106,842,000-107,204,959
(GRCh37/hg19)

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 Lys488
  • 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

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

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.

Phenotypes From GWAS Catalog for COG5 Gene

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for COG5

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

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (4)
  • Nucleoplasm (1)
See all subcellular structures

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

Drugs & Compounds for COG5 Gene

No Compound Related Data Available

Transcripts for COG5 Gene

Unigene Clusters for COG5 Gene

Component of oligomeric golgi complex 5:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for COG5

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 CGAP 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, 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

Evidence on tissue expression from TISSUES for COG5 Gene

  • Nervous system(4.8)
  • Blood(4.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for COG5 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • cardiovascular
  • nervous
  • skeletal muscle
Regions:
Head and neck:
  • brain
  • cerebellum
  • ear
  • head
Thorax:
  • heart
General:
  • blood vessel
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 33
  • 99.5 (n)
OneToOne
cow
(Bos Taurus)
Mammalia COG5 34 33
  • 92 (n)
OneToOne
dog
(Canis familiaris)
Mammalia COG5 34 33
  • 91.65 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Cog5 16 34 33
  • 88.54 (n)
rat
(Rattus norvegicus)
Mammalia RGD1563296 33
  • 87.02 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia COG5 34
  • 85 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia COG5 34
  • 77 (a)
OneToOne
chicken
(Gallus gallus)
Aves COG5 34 33
  • 79.78 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia COG5 34
  • 83 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cog5 33
  • 74.69 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.15254 33
zebrafish
(Danio rerio)
Actinopterygii cog5 34 33
  • 69.16 (n)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10229 33
fruit fly
(Drosophila melanogaster)
Insecta fws 34 35
  • 27 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea cogc-5 34
  • 24 (a)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G67930 33
  • 44.8 (n)
rice
(Oryza sativa)
Liliopsida Os05g0378900 33
  • 41.93 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5851 34
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for COG5: view image

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 Variation AA Info Type
rs1016330894 uncertain-significance, Congenital disorder of glycosylation 107,558,025(-) G/A coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs10699573 likely-benign, Congenital disorder of glycosylation 107,202,239(-) TCTTT/TCTTTCTTT 3_prime_UTR_variant, genic_downstream_transcript_variant, non_coding_transcript_variant
rs113660545 uncertain-significance, likely-benign, Congenital disorder of glycosylation, not specified 107,554,313(-) T/C coding_sequence_variant, non_coding_transcript_variant, synonymous_variant
rs114481539 uncertain-significance, Congenital disorder of glycosylation 107,564,340(-) C/A/G/T 5_prime_UTR_variant, non_coding_transcript_variant
rs115287891 uncertain-significance, Congenital disorder of glycosylation 107,202,405(-) G/A 3_prime_UTR_variant, genic_downstream_transcript_variant, non_coding_transcript_variant

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

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

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)

Additional Variant Information for COG5 Gene

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

SNP Genotyping and Copy Number Assay Products

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, GTR, and Orphanet

Disorder Aliases PubMed IDs
congenital disorder of glycosylation, type iii
  • cdg2i
- 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.

Additional Disease Information for COG5

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 (Human molecular genetics 2009) 3 4 22 58
  2. Purification and characterization of a novel 13 S hetero-oligomeric protein complex that stimulates in vitro Golgi transport. (PMID: 9792665) Walter DM … Waters MG (The Journal of biological chemistry 1998) 2 3 4 58
  3. Meta-analysis of genome-wide association studies confirms a susceptibility locus for knee osteoarthritis on chromosome 7q22. (PMID: 21068099) Evangelou E … Translation Research in Europe Applied Technologies for Osteoarthritis (TreatOA) (Annals of the rheumatic diseases 2011) 3 44 58
  4. A genome-wide association study identifies an osteoarthritis susceptibility locus on chromosome 7q22. (PMID: 20112360) Kerkhof HJ … van Meurs JB (Arthritis and rheumatism 2010) 3 44 58
  5. The DNA sequence of human chromosome 7. (PMID: 12853948) Hillier LW … Wilson RK (Nature 2003) 3 4 58

Products for COG5 Gene

Sources for COG5 Gene

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