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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

COG5 Gene

protein-coding   GIFtS: 55
GCID: GC07M106842

Component Of Oligomeric Golgi Complex 5

(Previous name: golgi transport complex 1 (90 kDa subunit))
(Previous symbol: GOLTC1)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Component Of Oligomeric Golgi Complex 51 2 3     13S Golgi Transport Complex 1 90 KDa Subunit2
GOLTC11 2 3 5     Conserved Oligomeric Golgi Complex Protein 52
GTC902 3 5     Conserved Oligomeric Golgi Complex Subunit 52
COG Complex Subunit 52 3     13S Golgi Transport Complex 90 KDa Subunit3
CDG2I2 5     GTC-903
Golgi Transport Complex 1 (90 KDa Subunit)1     Golgi Transport Complex 13

External Ids:    HGNC: 148571   Entrez Gene: 104662   Ensembl: ENSG000001645977   OMIM: 6068215   UniProtKB: Q9UP833   

Export aliases for COG5 gene to outside databases

Previous GC identifers: GC07M105326 GC07M106389 GC07M106403 GC07M106436 GC07M106630 GC07M101202


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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, and congenital disorder of glycosylation. GO annotations related to this gene include protein binding and molecular_function.

UniProtKB/Swiss-Prot: COG5_HUMAN, Q9UP83
Function: Required for normal Golgi function (By similarity)

Gene Wiki entry for COG5 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000007.13  NC_018918.2  NT_007933.15  NT_079596.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the COG5 gene promoter:
         Nkx3-1   Nkx3-1 v4   NCX/Ncx   Nkx3-1 v1   Tal-1beta   Gfi-1   E47   FOXL1   Nkx3-1 v2   Nkx3-1 v3   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 3): COG5 promoter sequence
   Search SABiosciences Chromatin IP Primers for COG5

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat COG5


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 7q31   Ensembl cytogenetic band:  7q22.3   HGNC cytogenetic band: 7q31

COG5 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
COG5 gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07M106842:  view genomic region     (about GC identifiers)

Start:
106,842,000 bp from pter      End:
107,204,959 bp from pter
Size:
362,960 bases      Orientation:
minus strand

1 alternative location:
Chr7-,CRA_TCAG 106,203,276-106,566,048     

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: COG5_HUMAN, Q9UP83 (See protein sequence)
Recommended Name: Conserved oligomeric Golgi complex subunit 5  
Size: 839 amino acids; 92743 Da
Subunit: Component of the conserved oligomeric Golgi complex which is composed of eight different subunits and is
required for normal Golgi morphology and localization (By similarity)
Subcellular location: Cytoplasm, cytosol. Golgi apparatus membrane; Peripheral membrane protein
Caution: It is uncertain whether Met-1 or Met-32 is the initiator
Secondary accessions: A4D0R6 A4D0R7 O14555 O95008 Q6NUL5
Alternative splicing: 3 isoforms:  Q9UP83-1   Q9UP83-2   Q9UP83-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for COG5: NX_Q9UP83

Explore proteomics data for COG5 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9UP83

  • COG5 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    COG5 Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_001154992.1  NP_006339.3  NP_859422.2  

    ENSEMBL proteins: 
     ENSP00000334703   ENSP00000297135   ENSP00000377228   ENSP00000476238  

    Human Recombinant Protein Products for COG5: 
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    Novus Biologicals COG5 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for COG5 

    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000139Golgi membrane IEA--
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0005794Golgi apparatus IDA--
    GO:0005829cytosol IEA--

    COG5 for ontologies           About GeneDecksing



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    ThermoFisher Antibodies for COG5
    LSBio Antibodies in human, mouse, rat for COG5 

    Assay Products for COG5: 
    Browse Kits and Assays available from EMD Millipore
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    Cloud-Clone Corp. ELISAs for COG5 
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    COG: Components of oligomeric golgi complex

    1 InterPro protein domain:
     IPR019465 Cog5

    Graphical View of Domain Structure for InterPro Entry Q9UP83

    ProtoNet protein and cluster: Q9UP83

    UniProtKB/Swiss-Prot: COG5_HUMAN, Q9UP83
    Similarity: Belongs to the COG5 family


    COG5 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: COG5_HUMAN, Q9UP83
    Function: Required for normal Golgi function (By similarity)

         Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003674molecular_function ND--
    GO:0005515protein binding IPI15047703
         
    COG5 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for COG5:
     Increased G1 DNA content  Increased HPV18 LCR reporter a 

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for COG5 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for COG5

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for COG5 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for COG5 

    miRNA
    Products:
        
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat COG5
    8/78 QIAGEN miScript miRNA Assays for microRNAs that regulate COG5 (see all 78):
    hsa-miR-411* hsa-miR-3607-3p hsa-miR-607 hsa-miR-15a hsa-miR-1258 hsa-miR-578 hsa-miR-3921 hsa-miR-3122
    SwitchGear 3'UTR luciferase reporter plasmidCOG5 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for COG5
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    Clone
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): COG5 (NM_006348)
    Browse Sino Biological Human cDNA Clones
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for COG5


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for COG5

    STRING Interaction Network Preview (showing 5 interactants - click image to see 15)

    5/18 Interacting proteins for COG5 (Q9UP831, 3 ENSP000002971354) via UniProtKB, MINT, STRING, and/or I2D (see all 18)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    COG4Q9H9E31, 3, ENSP000003157754EBI-389502,EBI-368382 I2D: score=3 STRING: ENSP00000315775
    COG7P834361, 3, ENSP000003054424EBI-389502,EBI-389534 I2D: score=3 STRING: ENSP00000305442
    APCP250543, ENSP000002574304I2D: score=3 STRING: ENSP00000257430
    MEFVO155533, ENSP000002195964I2D: score=2 STRING: ENSP00000219596
    TRAF5O004633, ENSP000002614644I2D: score=1 STRING: ENSP00000261464
    About this table

    Gene Ontology (GO): 2 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006891intra-Golgi vesicle-mediated transport NAS9792665
    GO:0015031protein transport IEA--

    COG5 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for COG5

    Search CenterWatch for drugs/clinical trials and news about COG5

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for COG5 gene (3 alternative transcripts): 
    NM_001161520.1  NM_006348.3  NM_181733.2  

    Unigene Cluster for COG5:

    Component of oligomeric golgi complex 5
    Hs.239631  [show with all ESTs]
    Unigene Representative Sequence: NM_001161520
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000347053(uc003vec.2 uc003ved.2) ENST00000297135 ENST00000393603(uc003vee.2)
    ENST00000464542 ENST00000468350 ENST00000462342 ENST00000484237 ENST00000475638
    ENST00000605888 ENST00000469503
    miRNA
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat COG5
    8/78 QIAGEN miScript miRNA Assays for microRNAs that regulate COG5 (see all 78):
    hsa-miR-411* hsa-miR-3607-3p hsa-miR-607 hsa-miR-15a hsa-miR-1258 hsa-miR-578 hsa-miR-3921 hsa-miR-3122
    SwitchGear 3'UTR luciferase reporter plasmidCOG5 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for COG5
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat COG5
    Clone
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    OriGene clones in human, mouse for COG5 (see all 15)
    OriGene ORF clones in mouse, rat for COG5
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): COG5 (NM_006348)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for COG5
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat COG5
    Sirion Biotech Customized lentivirus for stable overexpression of COG5 
                         Customized lentivirus expression plasmids for stable overexpression of COG5 
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for COG5
    SABiosciences RT2 qPCR Primer Assay in human, mouse / rat COG5
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat COG5
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat COG5

    Additional mRNA sequence: 

    AF058718.1 AK022835.1 AK123726.1 AK126275.1 AK314270.1 BC068540.1 

    18 DOTS entries:

    DT.95112747  DT.100877360  DT.91889224  DT.100877357  DT.207394  DT.319613  DT.427564  DT.100877367 
    DT.102836928  DT.121102934  DT.40107938  DT.121103104  DT.95218311  DT.100000135  DT.121102981  DT.40130508 
    DT.95175981  DT.100877361 

    24/251 AceView cDNA sequences (see all 251):

    AA373937 BQ230813 CR620007 AA723054 BM852381 CN483343 AA564907 BI962862 
    Z39236 CB053996 AI089573 AK123726 AA193604 CB160916 AW130049 AI274016 
    AI886707 AI167490 AA281598 BP345988 CA434070 AA189142 AA926962 BI333737 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    COG5 expression in normal human tissues (normalized intensities)      COG5 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CCCTTAGCAA
    COG5 Expression
    About this image


    COG5 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/30 selected tissues (see all 30) fully expand
     
     Uterus
             uterus, post-menopause ; glandular cells   
     
     Epithelium
             cervix, uterine ; squamous epithelial cells   
     
     Testis (Reproductive System)    fully expand to see all 4 entries
             Leydig Cells Testis Interstitium
             seminal vesicle ; glandular cells   
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Lung (Respiratory System)    fully expand to see all 3 entries
             bronchus ; respiratory epithelial cells   
             trachea   

    See COG5 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for COG5

    SOURCE GeneReport for Unigene cluster: Hs.239631
        SABiosciences Custom PCR Arrays for COG5
    Primer
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat COG5
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for COG5

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for COG5 gene from 9/17 species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cog51 , 5 component of oligomeric golgi complex 51, 5 87.86(n)1
    89.26(a)1
      12 (13.68 cM)5
    2381231  NM_001163126.11  NP_001156598.11 
     316548695 
    chicken
    (Gallus gallus)
    Aves COG51 component of oligomeric golgi complex 5 79.42(n)
    86.35(a)
      417704  NM_001199445.1  NP_001186374.1 
    lizard
    (Anolis carolinensis)
    Reptilia COG56
    Uncharacterized protein
    83(a)
    1 ↔ 1
    5(97288956-97516454)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.152542 Xenopus laevis transcribed sequence with weak similarity more 76.65(n)    BQ732577.1 
    zebrafish
    (Danio rerio)
    Actinopterygii cog51 component of oligomeric golgi complex 5 69.12(n)
    78.43(a)
      567886  NM_001045144.1  NP_001038609.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta fws3   -- 25(a)   2 36C10   --
    worm
    (Caenorhabditis elegans)
    Secernentea cogc-51 Protein COGC-5 42.32(n)
    28.7(a)
      172025  NM_058938.4  NP_491339.2 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT1G679301 Golgi transport complex-related protein 44.2(n)
    32.99(a)
      843121  NM_105463.3  NP_176960.1 
    rice
    (Oryza sativa)
    Liliopsida Os05g03789001 hypothetical protein 41.79(n)
    30.85(a)
      4338625  NM_001061925.1  NP_001055390.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/7080 SNPs in COG5 are shown (see all 7080)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0391434
    ----see VAR_0391432 S P mis40--------
    rs38371381,2
    C--106233370(-) CCTTC-/TTCATTAA 3 -- cds10--------
    rs341212211,2
    C--106233371(+) TAATG-/G/GAA 
            
    AAGGG
    6 -- int1 cds10--------
    rs3693229371,2
    C--106233374(+) TGAAG-/AA/AAG
            
    GGGAT
    6 -- int1 cds10--------
    rs1438755881,2
    C--106261608(+) TAGTG-/ATAT  
            
    ATATA
    3 -- int10--------
    rs1441587991,2
    C--106261609(+) TAGTG-/AT    
       
    /ATAT
    ATATA
    3 -- int10--------
    rs1816924891,2
    --106261610(+) AGTGAC/TATATA 3 -- int10--------
    rs1503095801,2
    C--106261626(+) TATAT-/ATAT  
     
    /ATATAT
    GAAAT
    6 -- int1 cds10--------
    rs681851531,2
    C--106265916(+) AGAAA-/TATATT 3 -- int10--------
    rs718565131,2
    C--106301361(+) TTGGC-/ATATA 
     TATATAT
    ATATA
    3 -- int10--------

    HapMap Linkage Disequilibrium report for COG5 (106842000 - 107092000 bp, first 250kb of COG5)

    Structural Variations
         Database of Genomic Variants (DGV) 10/20 variations for COG5 (see all 20):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2734987CNV Deletion23290073
    esv2669357CNV Deletion23128226
    esv2734986CNV Deletion23290073
    esv2659843CNV Deletion23128226
    esv2664236CNV Deletion23128226
    esv271496CNV Insertion20981092
    nsv888939CNV Loss21882294
    nsv819371CNV Loss19587683
    nsv824250CNV Loss20364138
    nsv510107CNV Loss20534489


    Human Gene Mutation Database (HGMD): COG5
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 606821   
    OMIM disorders: 613612  
    UniProtKB/Swiss-Prot: COG5_HUMAN, Q9UP83
  • 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. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 9 diseases for COG5:    About MalaCards
    congenital disorder of glycosylation, type iii    congenital disorder of glycosylation    familial mediterranean fever    microcephaly
    hypotonia    leiomyoma    osteoarthritis    neuroblastoma
    arthritis

    1 disease from the University of Copenhagen DISEASES database for COG5:
    Congenital disorder of glycosylation

    COG5 for disorders           About GeneDecksing

    Genetic Association Database (GAD): COG5
    Human Genome Epidemiology (HuGE) Navigator: COG5 (2 documents)

    Export disorders for COG5 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for COG5 gene, integrated from 9 sources (see all 37):
    (articles sorted by number of sources associating them with COG5)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Purification and characterization of a novel 13 S hetero-oligomeric protein complex that stimulates in vitro Golgi transport. (PubMed id 9792665)1, 2, 3 Walter D.M.... Waters M.G. (1998)
    2. Deficiency in COG5 causes a moderate form of congenit al disorders of glycosylation. (PubMed id 19690088)1, 2, 9 Paesold-Burda P....Hennet T. (2009)
    3. Meta-analysis of genome-wide association studies conf irms a susceptibility locus for knee osteoarthritis on chromosome 7q22. (PubMed id 21068099)1, 4 Evangelou E....Spector T.D. (2010)
    4. A genome-wide association study identifies an osteoar thritis susceptibility locus on chromosome 7q22. (PubMed id 20112360)1, 4 Kerkhof H.J....van Meurs J.B. (2010)
    5. The DNA sequence of human chromosome 7. (PubMed id 12853948)1, 2 Hillier L.W.... Wilson R.K. (2003)
    6. Characterization of a mammalian Golgi-localized protein complex, COG, that is required for normal Golgi morphology and function. (PubMed id 11980916)1, 3 Ungar D....Waters M.G. (2002)
    7. The familial mediterranean fever protein interacts and colocalizes with a putative Golgi transporter. (PubMed id 10782044)1, 9 Chen X....Fischel-Ghodsian N. (2000)
    8. VCP phosphorylation-dependent interaction partners pre vent apoptosis in Helicobacter pylori-infected gastric epithelial cells. (PubMed id 23383273)1 Yu C.C....Chow L.P. (2013)
    9. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)
    10. Functional dissection of lysine deacetylases reveals t hat HDAC1 and p300 regulate AMPK. (PubMed id 22318606)1 Lin Y.Y....Boeke J.D. (2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 10466 HGNC: 14857 AceView: COG5 Ensembl:ENSG00000164597 euGenes: HUgn10466
    ECgene: COG5 H-InvDB: COG5

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for COG5 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for COG5 gene:
    Search GeneIP for patents involving COG5

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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