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

COPS4 Gene

protein-coding   GIFtS: 50
GCID: GC04P083955

COP9 Signalosome Subunit 4

(Previous names: COP9 (constitutive photomorphogenic, Arabidopsis, homolog)...)
  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
COP9 Signalosome Subunit 41 2     COP9 (Constitutive Photomorphogenic, Arabidopsis, Homolog) Subunit 41
Signalosome Subunit 42 3     COP9 Constitutive Photomorphogenic Homolog Subunit 4 (Arabidopsis)1
CSN42 3     COP9 Constitutive Photomorphogenic Homolog Subunit 42
SGN42 3     COP9 Signalosome Complex Subunit 42
JAB1-Containing Signalosome Subunit 42 3     MANOP15

External Ids:    HGNC: 167021   Entrez Gene: 511382   Ensembl: ENSG000001386637   OMIM: 3015905   UniProtKB: Q9BT783   

Export aliases for COPS4 gene to outside databases

Previous GC identifers: GC04P083880 GC04P084249 GC04P084348 GC04P084414 GC04P084313 GC04P079696


(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 COPS4 Gene:
This gene encodes one of eight subunits composing COP9 signalosome, a highly conserved protein complex that
functions as an important regulator in multiple signaling pathways. The structure and function of COP9
signalosome is similar to that of the 19S regulatory particle of 26S proteasome. COP9 signalosome has been shown
to interact with SCF-type E3 ubiquitin ligases and act as a positive regulator of E3 ubiquitin ligases. Two
transcript variants encoding different isoforms have been found for this gene. (provided by RefSeq, Apr 2012)

GeneCards Summary for COPS4 Gene: 
COPS4 (COP9 signalosome subunit 4) is a protein-coding gene. Diseases associated with COPS4 include microphthalmia syndromic 4, and microphthalmia. GO annotations related to this gene include protein binding.

UniProtKB/Swiss-Prot: CSN4_HUMAN, Q9BT78
Function: Component of the COP9 signalosome complex (CSN), a complex involved in various cellular and
developmental processes. The CSN complex is an essential regulator of the ubiquitin (Ubl) conjugation pathway by
mediating the deneddylation of the cullin subunits of SCF-type E3 ligase complexes, leading to decrease the Ubl
ligase activity of SCF-type complexes such as SCF, CSA or DDB2. The complex is also involved in phosphorylation
of p53/TP53, c-jun/JUN, IkappaBalpha/NFKBIA, ITPK1 and IRF8/ICSBP, possibly via its association with CK2 and PKD
kinases. CSN-dependent phosphorylation of TP53 and JUN promotes and protects degradation by the Ubl system,
respectively

Gene Wiki entry for COPS4 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_000004.11  NC_018915.2  NT_016354.19  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the COPS4 gene promoter:
         E2F-3a   E2F-4   RP58   E2F-5   MAZR   E2F-2   Nkx2-5   Nkx5-1   E2F-1   E2F   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCOPS4 promoter sequence
   Search SABiosciences Chromatin IP Primers for COPS4

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat COPS4


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

Entrez Gene cytogenetic band: 4q21.22   Ensembl cytogenetic band:  4q21.22   HGNC cytogenetic band: 4q21.22

COPS4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
COPS4 gene location

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04P083955:  view genomic region     (about GC identifiers)

Start:
83,955,600 bp from pter      End:
83,996,971 bp from pter
Size:
41,372 bases      Orientation:
plus strand

(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: CSN4_HUMAN, Q9BT78 (See protein sequence)
Recommended Name: COP9 signalosome complex subunit 4  
Size: 406 amino acids; 46269 Da
Subunit: Component of the CSN complex, composed of COPS1/GPS1, COPS2, COPS3, COPS4, COPS5, COP6, COPS7 (COPS7A or
COPS7B) and COPS8. In the complex, it probably interacts directly with COPS1, COPS2, COPS3, COPS5, COPS6, COPS7
(COPS7A or COPS7B) and COPS8
Subcellular location: Cytoplasm. Nucleus
Secondary accessions: B3KN88 B3KST5 Q561W7 Q9NW31 Q9Y677
Alternative splicing: 2 isoforms:  Q9BT78-1   Q9BT78-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for COPS4: NX_Q9BT78

Explore proteomics data for COPS4 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9BT78

  • COPS4 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    COPS4 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001244935.1  NP_057213.2  

    ENSEMBL proteins: 
     ENSP00000425976   ENSP00000264389   ENSP00000425486   ENSP00000426788   ENSP00000424791  
     ENSP00000424655  

    Human Recombinant Protein Products for COPS4: 
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    Novus Biologicals COPS4 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for COPS4 

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IEA--
    GO:0008180COP9 signalosome IDA18850735

    COPS4 for ontologies           About GeneDecksing



    COPS4 Antibody Products: 
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    LSBio Antibodies in human, mouse, rat for COPS4 

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    Cloud-Clone Corp. ELISAs for COPS4 
    Cloud-Clone Corp. CLIAs for COPS4


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    2 InterPro protein domains:
     IPR000717 PCI_dom
     IPR011991 WHTH_DNA-bd_dom

    Graphical View of Domain Structure for InterPro Entry Q9BT78

    ProtoNet protein and cluster: Q9BT78

    UniProtKB/Swiss-Prot: CSN4_HUMAN, Q9BT78
    Similarity: Belongs to the CSN4 family
    Similarity: Contains 1 PCI domain


    COPS4 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: CSN4_HUMAN, Q9BT78
    Function: Component of the COP9 signalosome complex (CSN), a complex involved in various cellular and
    developmental processes. The CSN complex is an essential regulator of the ubiquitin (Ubl) conjugation pathway by
    mediating the deneddylation of the cullin subunits of SCF-type E3 ligase complexes, leading to decrease the Ubl
    ligase activity of SCF-type complexes such as SCF, CSA or DDB2. The complex is also involved in phosphorylation
    of p53/TP53, c-jun/JUN, IkappaBalpha/NFKBIA, ITPK1 and IRF8/ICSBP, possibly via its association with CK2 and PKD
    kinases. CSN-dependent phosphorylation of TP53 and JUN promotes and protects degradation by the Ubl system,
    respectively

         Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI16189514
         
    COPS4 for ontologies           About GeneDecksing


    Phenotypes:
         6 GenomeRNAi human phenotypes for COPS4:
     Decreased NANOG protein expres  Decreased OCT4 protein express  Decreased POU5F1-GFP protein e  Increased cell death in HCT116 
     Synthetic lethal with Ras  Synthetic lethal with c-Myc af 

         1 MGI mutant phenotype (inferred from 1 allele(MGI details for Cops4):
     behavior/neurological 

    COPS4 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for COPS4 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for COPS4

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for COPS4 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for COPS4 

    miRNA
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    SwitchGear 3'UTR luciferase reporter plasmidCOPS4 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
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    Gene Editing
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    Clone
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    Browse Sino Biological Human cDNA Clones
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                         Customized lentivirus expression plasmids for stable overexpression of COPS4 

    Cell Line
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    Search LifeMap BioReagents cell lines for COPS4
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for COPS4


    (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 COPS4

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

    5/143 Interacting proteins for COPS4 (Q9BT781, 2, 3 ENSP000002643894) via UniProtKB, MINT, STRING, and/or I2D (see all 143)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CCDC85BQ158342, 3, ENSP000003116954MINT-66491 I2D: score=5 STRING: ENSP00000311695
    COPS3Q9UNS22, 3, ENSP000002687174MINT-7230300 I2D: score=5 STRING: ENSP00000268717
    MBIPQ9NS732, 3, ENSP000003244444MINT-67774 I2D: score=5 STRING: ENSP00000324444
    RCBTB2O951992, 3, ENSP000003451444MINT-66264 I2D: score=5 STRING: ENSP00000345144
    COPS5Q929052, 3, ENSP000003505124MINT-7230300 I2D: score=4 STRING: ENSP00000350512
    About this table

    Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0010388cullin deneddylation IDA19141280

    COPS4 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 COPS4 (CSN4)

    Search CenterWatch for drugs/clinical trials and news about COPS4 / CSN4

    (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 COPS4 gene (2 alternative transcripts): 
    NM_001258006.1  NM_016129.2  

    Unigene Cluster for COPS4:

    COP9 signalosome subunit 4
    Hs.190384  [show with all ESTs]
    Unigene Representative Sequence: AK094238
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000509093 ENST00000264389(uc003hoa.3 uc010ijx.3) ENST00000511891
    ENST00000509317 ENST00000510801 ENST00000506443 ENST00000507376 ENST00000503682
    ENST00000511653 ENST00000511708 ENST00000504274
    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat COPS4
    Search QIAGEN for miScript miRNA Assays for microRNAs that regulate COPS4
    SwitchGear 3'UTR luciferase reporter plasmidCOPS4 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for COPS4
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat COPS4
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    GenScript: all cDNA clones in your preferred vector: COPS4 (NM_016129)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for COPS4
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat COPS4
    Sirion Biotech Customized lentivirus for stable overexpression of COPS4 
                         Customized lentivirus expression plasmids for stable overexpression of COPS4 
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for COPS4
    OriGene qSTAR qPCR primer pairs in human, mouse for COPS4
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat COPS4
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat COPS4
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat COPS4

    Additional mRNA sequence: 

    AF100757.1 AK001148.1 AK001210.1 AK024005.1 AK094238.1 AK223178.1 BC004302.1 BC009292.2 
    BC093007.1 

    12 DOTS entries:

    DT.317318  DT.100655432  DT.91774237  DT.302737  DT.100638460  DT.100655433  DT.91774225  DT.91774236 
    DT.121226141  DT.91774222  DT.91774235  DT.95211323 

    24/322 AceView cDNA sequences (see all 322):

    AI291495 BU848662 BM857216 BI908438 BQ066000 AA743519 BM463124 BQ935603 
    BQ898982 BX106366 CR600599 CR625192 AI086809 BX366150 AI131101 AA258841 
    BU171819 BC004302 BM823089 AA648894 AL558592 AA313920 BM790711 BM719563 

    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

    COPS4 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CCTCTCCAAA
    COPS4 Expression
    About this image


    See COPS4 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for COPS4

    SOURCE GeneReport for Unigene cluster: Hs.190384
        SABiosciences Custom PCR Arrays for COPS4
    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for COPS4

    (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 COPS4 gene from 10/23 species (see all 23)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cops41 , 5 COP9 (constitutive photomorphogenic) homolog, subunit more1, 5 90.64(n)1
    99.51(a)1
      5 (48.49 cM)5
    268911  NM_012001.21  NP_036131.11 
     1005183095 
    chicken
    (Gallus gallus)
    Aves COPS41 COP9 constitutive photomorphogenic homolog subunit more 84.07(n)
    99.01(a)
      422594  NM_001006447.1  NP_001006447.1 
    lizard
    (Anolis carolinensis)
    Reptilia COPS46
    Uncharacterized protein
    94(a)
    1 ↔ 1
    5(43173848-43181963)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.339352 Xenopus laevis transcribed sequence with strong similarity more 79.64(n)    CB199278.2 
    zebrafish
    (Danio rerio)
    Actinopterygii wufc90c082 Danio rerio COP9, mRNA (cDNA clone IMAGE6791029) 78.83(n)    BC056527.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CSN41 , 3 photoreceptor differentiation (sensu
    Drosophila)3
    COP9 complex homolog subunit 41
    72(a)3
    64.38(n)1
    72.52(a)1
      357591  NM_001169609.11  NP_001163080.11 
    worm
    (Caenorhabditis elegans)
    Secernentea csn-46
    COP9 signalosome complex subunit 4
    35(a)
    1 ↔ 1
    IV(1077490-1087015)
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes RPN56
    Subunit of the COP9 signalosome (CSN) and non-ATPa...
    16(a)
    1 → many
    IV(190924-192261)
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons COP81 COP9 signalosome complex subunit 4 55.14(n)
    51.6(a)
      834312  NM_123663.2  NP_199111.1 
    rice
    (Oryza sativa)
    Liliopsida Os03g01974001 hypothetical protein 55.68(n)
    52.75(a)
      4331948  NM_001055807.1  NP_001049272.1 


    ENSEMBL Gene Tree for COPS4 (if available)
    TreeFam Gene Tree for COPS4 (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

    10/917 SNPs in COPS4 are shown (see all 917)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 4 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs105513921,2
    C--83798961(+) GGTCT-/GTTT  
            
    AAGAT
    2 -- int11Minor allele frequency- GTTT:0.00NA 2
    rs68211101,2
    C,F,A,H--83954383(+) ctttgC/Actcat 2 -- us2k1 tfbs317Minor allele frequency- A:0.27NS EA NA 2206
    rs1442181501,2
    --83954417(+) ACATAC/TATAAT 2 -- us2k10--------
    rs1170870381,2
    F--83954476(+) AGGATT/GAAATA 2 -- us2k11Minor allele frequency- G:0.02EA 120
    rs1119143891,2
    C,F--83954809(+) TAAAGC/TCACAT 2 -- us2k11Minor allele frequency- T:0.50CSA 2
    rs1831117511,2
    --83954857(+) TCAAGA/GGTTTT 2 -- us2k10--------
    rs1144539971,2
    C--83954884(+) CACCTA/GTTTAA 2 -- us2k10--------
    rs557666271,2
    C--83954944(+) TGTTTT/GTTTTT 2 -- us2k16Minor allele frequency- G:0.00NA WA CSA 11
    rs1998846581,2
    --83954944(+) TGTTT-/GTTTTT 2 -- us2k10--------
    rs2008498771,2
    --83954947(+) TGTTT-/TTGTTTTT 2 -- cds10--------

    HapMap Linkage Disequilibrium report for COPS4 (83955600 - 83996971 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for COPS4:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2658715CNV Deletion23128226
    nsv829990CNV Gain17160897

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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: 301590    OMIM disorders: --

    4 diseases for COPS4:    About MalaCards
    microphthalmia syndromic 4    microphthalmia    xeroderma pigmentosum    down syndrome


    COPS4 for disorders           About GeneDecksing


    Export disorders for COPS4 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 COPS4 gene, integrated from 9 sources (see all 66):
    (articles sorted by number of sources associating them with COPS4)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Characterization of the human COP9 signalosome complex using affinity purification and mass spectrometry. (PubMed id 18850735)1, 2 Fang L.... Huang L. (2008)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    3. 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. (2004)
    4. Protein kinase CK2 and protein kinase D are associated with the COP9 signalosome. (PubMed id 12628923)1, 2 Uhle S....Dubiel W. (2003)
    5. The ubiquitin ligase activity in the DDB2 and CSA complexes is differentially regulated by the COP9 signalosome in response to DNA damage. (PubMed id 12732143)1, 2 Groisman R.... Nakatani Y. (2003)
    6. Aberrant expression of signaling-related proteins 14-3-3 gamma and RACK1 in fetal Down syndrome brain (trisomy 21), AND MASS SPECTROMETRY. (PubMed id 11824616)1, 2 Peyrl A.... Lubec G. (2002)
    7. COP9 signalosome-specific phosphorylation targets p53 to degradation by the ubiquitin system. (PubMed id 11285227)1, 2 Bech-Otschir D.... Dubiel W. (2001)
    8. Promotion of NEDD-CUL1 conjugate cleavage by COP9 signalosome. (PubMed id 11337588)1, 2 Lyapina S.... Deshaies R.J. (2001)
    9. The COP9 complex is conserved between plants and mammals and is related to the 26S proteasome regulatory complex. (PubMed id 9707402)1, 3 Wei N....Deng X.W. (1998)
    10. A novel protein complex involved in signal transduction possessing similarities to 26S proteasome subunits. (PubMed id 9535219)1, 2 Seeger M....Dubiel W. (1998)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
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    Aliases
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 51138 HGNC: 16702 AceView: COPS4 Ensembl:ENSG00000138663 euGenes: HUgn51138
    ECgene: COPS4 H-InvDB: COPS4

    (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 COPS4 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for COPS4 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for COPS4 gene:
    Search GeneIP for patents involving COPS4

    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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