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COG4 Gene

protein-coding   GIFtS: 57
GCID: GC16M070514

Component Of Oligomeric Golgi Complex 4

  See COG4-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)
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Aliases
Component Of Oligomeric Golgi Complex 41 2 3     Complexed With Dor1p2
COG Complex Subunit 42 3     Conserved Oligomeric Golgi Complex Protein 42
CDG2J2 5     Conserved Oligomeric Golgi Complex Subunit 42
COD12 5     

External Ids:    HGNC: 186201   Entrez Gene: 258392   Ensembl: ENSG000001030517   OMIM: 6069765   UniProtKB: Q9H9E33   

Export aliases for COG4 gene to outside databases

Previous GC identifers: GC16M061216 GC16M070934 GC16M070249 GC16M070290 GC16M069071 GC16M056346


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for COG4 Gene:
The protein encoded by this gene is a component of an oligomeric protein complex involved in the structure and
function of the Golgi apparatus. Defects in this gene may be a cause of congenital disorder of glycosylation type
IIj. Two transcript variants encoding different isoforms have been found for this gene.(provided by RefSeq, Aug
2010)

GeneCards Summary for COG4 Gene:
COG4 (component of oligomeric golgi complex 4) is a protein-coding gene. Diseases associated with COG4 include congenital disorder of glycosylation, type iij, and congenital disorder of glycosylation.

UniProtKB/Swiss-Prot: COG4_HUMAN, Q9H9E3
Function: Required for normal Golgi function. Plays a role in SNARE-pin assembly and Golgi-to-ER retrograde
transport via its interaction with SCFD1

Gene Wiki entry for COG4 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000016.9  NT_010498.16  NC_018927.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the COG4 gene promoter:
         STAT1   FOXF2   NRSF form 1   NCX/Ncx   LCR-F1   NRSF form 2   Tal-1beta   ITF-2   ATF6   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCOG4 promoter sequence
   Search Chromatin IP Primers for COG4

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat COG4


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

Entrez Gene cytogenetic band: 16q22.1   Ensembl cytogenetic band:  16q22.1   HGNC cytogenetic band: 16q22.1

COG4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
COG4 gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16M070514:  view genomic region     (about GC identifiers)

Start:
70,514,471 bp from pter      End:
70,557,468 bp from pter
Size:
42,998 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: COG4_HUMAN, Q9H9E3 (See protein sequence)
Recommended Name: Conserved oligomeric Golgi complex subunit 4  
Size: 785 amino acids; 89083 Da
Subunit: Monomer. Component of the conserved oligomeric Golgi (COG) complex which is composed of eight different
subunits and is required for normal Golgi morphology and localization. Mediates interaction of SCFD1 with the COG
complex. Interacts with STX5
Sequence caution: Sequence=BAB15483.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
1 PDB 3D structure from and Proteopedia for COG4:
3HR0 (3D)    
Secondary accessions: B4DMN8 C9JS23 Q96D40 Q9BRF0 Q9BVZ2 Q9H5Y4 Q9Y3W3
Alternative splicing: 3 isoforms:  Q9H9E3-1   Q9H9E3-2   Q9H9E3-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for COG4: NX_Q9H9E3

Explore proteomics data for COG4 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys73
  • Modification sites at PhosphoSitePlus

  • See COG4 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001182068.1  NP_056201.2  

    ENSEMBL proteins: 
     ENSP00000456653   ENSP00000315775   ENSP00000432802   ENSP00000455693   ENSP00000454573  
     ENSP00000461912   ENSP00000434160   ENSP00000463732   ENSP00000377236  

    COG4 Human Recombinant Protein Products:

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    Novus Biologicals COG4 Protein
    Novus Biologicals COG4 Lysate
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    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for COG4

     
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    antibodies-online proteins for COG4 (4 products) 

     
    antibodies-online peptides for COG4

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    COG: Components of oligomeric golgi complex

    1 InterPro protein domain:
     IPR013167 COG_su4

    Graphical View of Domain Structure for InterPro Entry Q9H9E3

    ProtoNet protein and cluster: Q9H9E3

    UniProtKB/Swiss-Prot: COG4_HUMAN, Q9H9E3
    Similarity: Belongs to the COG4 family


    Find genes that share domains with COG4           About GenesLikeMe


    (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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: COG4_HUMAN, Q9H9E3
    Function: Required for normal Golgi function. Plays a role in SNARE-pin assembly and Golgi-to-ER retrograde
    transport via its interaction with SCFD1

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI15047703
         
    Find genes that share ontologies with COG4           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for COG4:
     Decreased p24 protein expressi 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for COG4
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    miRNA
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    miRTarBase miRNAs that target COG4:
    hsa-mir-18a-3p (MIRT040817), hsa-mir-615-3p (MIRT039829)

    Block miRNA regulation of human, mouse, rat COG4 using miScript Target Protectors
    2 qRT-PCR Assays for microRNAs that regulate COG4:
    hsa-miR-142-3p hsa-miR-20b*
    SwitchGear 3'UTR luciferase reporter plasmidCOG4 3' UTR sequence
    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector (see all 2): COG4 (NM_015386)
    Browse Sino Biological Human cDNA Clones
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    COG4_HUMAN, Q9H9E3: Golgi apparatus membrane; Peripheral membrane protein; Cytoplasmic side (Probable)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    golgi apparatus5
    nucleus2
    mitochondrion1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000139Golgi membrane IEA--
    GO:0017119Golgi transport complex IDA15047703

    Find genes that share ontologies with COG4           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for COG4
    Interactions:

        GeneGlobe Interaction Network for COG4

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for COG4 (Q9H9E31, 2, 3 ENSP000003157754) via UniProtKB, MINT, STRING, and/or I2D (see all 51)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SCFD1Q8WVM81, 2, 3, ENSP000003907834EBI-368382,EBI-722569 MINT-7296985 MINT-7296900 MINT-7296997 MINT-7296837 MINT-7296817 MINT-7296950 MINT-7296858 MINT-7296787 MINT-7296930 MINT-7296769 MINT-7296883 MINT-7296802 I2D: score=1 STRING: ENSP00000390783
    COG3Q96JB22, 3, ENSP000002586544MINT-7296817 MINT-7296787 MINT-7296769 MINT-7296802 I2D: score=1 STRING: ENSP00000258654
    COG1Q8WTW31, 3, ENSP000002998864EBI-368382,EBI-368371 I2D: score=3 STRING: ENSP00000299886
    COG2Q147461, 3, ENSP000003556294EBI-368382,EBI-389449 I2D: score=3 STRING: ENSP00000355629
    SEPT2Q150192, 3, ENSP000003531574MINT-8270099 I2D: score=2 STRING: ENSP00000353157
    About this table

    Gene Ontology (GO): 4 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006890retrograde vesicle-mediated transport, Golgi to ER IMP19536132
    GO:0007030Golgi organization IMP19536132
    GO:0015031protein transport IEA--
    GO:0048213Golgi vesicle prefusion complex stabilization IMP19536132

    Find genes that share ontologies with COG4           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for COG4



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for COG4 gene (2 alternative transcripts): 
    NM_001195139.1  NM_015386.2  

    Unigene Cluster for COG4:

    Component of oligomeric golgi complex 4
    Hs.208680  [show with all ESTs]
    Unigene Representative Sequence: BX648010
    14 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000564415 ENST00000323786(uc002ezc.3 uc002ezd.3) ENST00000530314(uc002eze.3)
    ENST00000482252(uc010cfu.3) ENST00000526700 ENST00000565715 ENST00000564315
    ENST00000567244 ENST00000562200 ENST00000564653 ENST00000534772 ENST00000530160
    ENST00000524584 ENST00000393612
    miRNA
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    2 qRT-PCR Assays for microRNAs that regulate COG4:
    hsa-miR-142-3p hsa-miR-20b*
    SwitchGear 3'UTR luciferase reporter plasmidCOG4 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat COG4
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    GenScript: all cDNA clones in your preferred vector (see all 2): COG4 (NM_015386)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for COG4
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat COG4
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat COG4
      QuantiTect SYBR Green Assays in human, mouse, rat COG4
      QuantiFast Probe-based Assays in human, mouse, rat COG4

    Additional mRNA sequence: 

    AK022874.1 AK026435.1 AK096557.1 AK293235.1 AK297557.1 AL050101.1 BC000796.1 BC006306.2 
    BC013347.2 BC027726.2 BC072438.1 BC128144.1 BC128145.1 BX648010.1 

    22 DOTS entries:

    DT.100670471  DT.100730780  DT.100816127  DT.316115  DT.100812988  DT.100812987  DT.97851961  DT.100816132 
    DT.92451125  DT.102825854  DT.120690638  DT.91818536  DT.92451123  DT.92451145  DT.100719520  DT.120690734 
    DT.120690755  DT.100801567  DT.100831553  DT.120690635  DT.92451119  DT.120690717 

    Selected AceView cDNA sequences (see all 406):

    BQ689620 AI364170 BU857056 BX460695 BQ015091 BM044494 BE797550 CR590176 
    BM727115 T30484 BE314233 AA757609 BU146460 AU154526 BQ019415 BF688167 
    BG747770 AU125729 BU737929 BU630342 BQ066375 AW160470 NM_145818 BM910766 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for COG4 (see all 7)    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11a · 11b ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17a · 17b ^ 18 ^ 19 ^ 20 ^ 21a · 21b · 21c
    SP1:                                                        -                                               -                                                   
    SP2:                                            -           -                                               -                                                   
    SP3:                                            -           -                                   -           -                                                   
    SP4:        -                                               -                                               -                                                   
    SP5:                                                                                                                                                            


    ECgene alternative splicing isoforms for COG4

    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    COG4 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GATGGTCAGT
    COG4 Expression
    About this image

    COG4 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    COG4 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.208680
        Custom PCR Arrays for COG4
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for COG4

    (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)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for COG4 gene from Selected species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cog41 , 5 component of oligomeric golgi complex 41, 5 89.68(n)1
    94.39(a)1
      8 (57.76 cM)5
    1023391  NM_133973.21  NP_598734.11 
     1108466005 
    chicken
    (Gallus gallus)
    Aves COG41 component of oligomeric golgi complex 4 80.17(n)
    86.01(a)
      415681  NM_001012775.1  NP_001012793.1 
    lizard
    (Anolis carolinensis)
    Reptilia COG46
    component of oligomeric golgi complex 4
    79(a)
    1 ↔ 1
    GL343539.1(63558-80106)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia LOC1001456891 uncharacterized LOC100145689 75.8(n)
    84.27(a)
      100145689  NM_001127063.1  NP_001120535.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.2142 Transcribed sequence with moderate similarity to protein more 77.67(n)    57066186 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG74561 , 3 CG74561 38(a)3
    50.93(n)1
    41.2(a)1
      31F13
    344421  NM_135569.41  NP_609413.11 
    worm
    (Caenorhabditis elegans)
    Secernentea Y51H7C.6a3
    cogc-41
    cogc-41 32(a)
    (best of 2)3
    47.04(n)1
    34.79(a)1
      II(1403616-1408976)3
    1735181  NM_061565.41  NP_493966.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes COG4(YPR105C)4 Essential component of the conserved oligomeric Golgi more   --   16(739569-736984) 856220  NP_015430.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT4G014001 AT4G01400 46.35(n)
    35.23(a)
      827943  NM_001160726.1  NP_001154198.1 
    rice
    (Oryza sativa)
    Liliopsida Os.156102 Transcribed sequence with moderate similarity to protein more 71.67(n)    CB633133.1 


    ENSEMBL Gene Tree for COG4 (if available)
    TreeFam Gene Tree for COG4 (if available)

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

    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for COG4 (see all 1045)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0637674
    Congenital disorder of glycosylation 2J (CDG2J)4--see VAR_0637672 R W mis40--------
    rs58177011,2
    C--70519800(+) TTTTTT/-CTTTT 2 -- int1 trp31Minor allele frequency- -:0.00CSA 2
    rs1119932101,2
    C,F--70522097(+) AGTGGT/CGTGAT 2 -- int11Minor allele frequency- C:0.00WA 2
    rs1134691221,2
    F--70522321(+) CACTGC/TGCCCA 2 -- int11Minor allele frequency- T:0.50CSA 2
    rs352444321,2
    C--70536429(-) GCCTCT/-TCGGG 2 -- int11Minor allele frequency- -:0.00NA 2
    rs1119013171,2
    C,F--70539385(+) CAGGCG/ATGAGC 2 -- int11Minor allele frequency- A:0.50CSA 2
    rs49854101,2
    C--70540521(+) aaaaaA/Caaaaa 2 -- int12Minor allele frequency- C:0.00NA 4
    rs1130778601,2
    F--70541968(+) ACAGGT/CACGCA 2 -- int12Minor allele frequency- C:0.00CSA 3
    rs1117967461,2
    C,F--70544769(+) TCAAGA/CGATTC 2 -- int11Minor allele frequency- C:0.00CSA 1
    rs677143901,2
    C--70545209(+) TGCCG-/CTTTTAA 2 -- int10--------

    HapMap Linkage Disequilibrium report for COG4 (70514471 - 70557468 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for COG4 (see all 14):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2714672CNV Deletion23290073
    esv2439753CNV Deletion19546169
    esv4553CNV Deletion18987735
    esv2714671CNV Deletion23290073
    esv1193820CNV Deletion17803354
    esv2673546CNV Deletion23128226
    esv2676236CNV Deletion23128226
    esv2425317CNV Deletion19546169
    esv2675941CNV Deletion23128226
    esv2008425CNV Deletion18987734

    Human Gene Mutation Database (HGMD): COG4
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing COG4
    DNA2.0 Custom Variant and Variant Library Synthesis for COG4

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

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    OMIM gene information: 606976   
    OMIM disorders: 613489  
    UniProtKB/Swiss-Prot: COG4_HUMAN, Q9H9E3
  • Congenital disorder of glycosylation 2J (CDG2J) [MIM:613489]: 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. Note=The disease is caused by mutations affecting the gene represented in this
    entry

  • 3 diseases for COG4:    
    About MalaCards
    congenital disorder of glycosylation, type iij    congenital disorder of glycosylation    oculocerebrorenal syndrome

    1 disease from the University of Copenhagen DISEASES database for COG4:
    Oculocerebrorenal syndrome

    Find genes that share disorders with COG4           About GenesLikeMe

    Genetic Association Database (GAD): COG4
    Human Genome Epidemiology (HuGE) Navigator: COG4 (1 document)

    Export disorders for COG4 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)
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    PubMed articles for COG4 gene, integrated from 10 sources (see all 31):
    (articles sorted by number of sources associating them with COG4)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Structural basis for a human glycosylation disorder caused by mutation of the COG4 gene. (PubMed id 19651599)1, 2 Richardson B.C.... Hughson F.M. (Proc. Natl. Acad. Sci. U.S.A. 2009)
    2. Direct interaction between the COG complex and the SM protein, Sly1, is required for Golgi SNARE pairing. (PubMed id 19536132)1, 2 Laufman O.... Lev S. (EMBO J. 2009)
    3. Golgi function and dysfunction in the first COG4-deficient CDG type II patient. (PubMed id 19494034)1, 2 Reynders E.... Matthijs G. (Hum. Mol. Genet. 2009)
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    6. An unappreciated role for RNA surveillance. (PubMed id 14759258)1, 2 Hillman R.T.... Brenner S.E. (Genome Biol. 2004)
    7. 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. (J. Cell Biol. 2002)
    8. The Sec34/35 Golgi transport complex is related to the exocyst, defining a family of complexes involved in multiple steps of membrane traffic. (PubMed id 11703943)1, 2 Whyte J.R. and Munro S. (Dev. Cell 2001)
    9. VCP phosphorylation-dependent interaction partners prevent apoptosis in Helicobacter pylori-infected gastric epithelial cells. (PubMed id 23383273)1 Yu C.C....Chow L.P. (PLoS ONE 2013)
    10. Characterization of the EGFR interactome reveals associated protein complex networks and intracellular receptor dynamics. (PubMed id 23956138)1 Foerster S....Ritter C.A. (Proteomics 2013)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section

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    Entrez Gene: 25839 HGNC: 18620 AceView: COG4 Ensembl:ENSG00000103051 euGenes: HUgn25839
    ECgene: COG4 H-InvDB: COG4

    (According to HUGE)
    About This Section

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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for COG4 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

    TryGeneCards Plus
    Patent Information for COG4 gene:
    Search GeneIP for patents involving COG4

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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