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COPS3 Gene

protein-coding   GIFtS: 60
GCID: GC17M017151

COP9 Signalosome Subunit 3

(Previous names: COP9 (constitutive photomorphogenic, Arabidopsis, homolog)...)
  Search for COPS3
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
COP9 Signalosome Subunit 31 2     COP9 (Constitutive Photomorphogenic, Arabidopsis, Homolog) Subunit 31
SGN32 3 5     COP9 Constitutive Photomorphogenic Homolog Subunit 3 (Arabidopsis)1
Signalosome Subunit 32 3     COP9 Complex Subunit 32
CSN32 3     COP9 Constitutive Photomorphogenic Homolog Subunit 32
JAB1-Containing Signalosome Subunit 32 3     COP9 Signalosome Complex Subunit 32

External Ids:    HGNC: 22391   Entrez Gene: 85332   Ensembl: ENSG000001410307   OMIM: 6046655   UniProtKB: Q9UNS23   

Export aliases for COPS3 gene to outside databases

Previous GC identifers: GC17M017465 GC17M018509 GC17M017093 GC17M017350 GC17M017090 GC17M016903


(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 COPS3 Gene:
The protein encoded by this gene possesses kinase activity that phosphorylates regulators involved in signal
transduction. It phosphorylates I kappa-Balpha, p105, and c-Jun. It acts as a docking site for complex-mediated
phosphorylation. The gene is located within the Smith-Magenis syndrome region on chromosome 17. Two transcript
variants encoding different isoforms have been found for this gene. (provided by RefSeq, Nov 2010)

GeneCards Summary for COPS3 Gene:
COPS3 (COP9 signalosome subunit 3) is a protein-coding gene.

UniProtKB/Swiss-Prot: CSN3_HUMAN, Q9UNS2
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 COPS3 (COP9 signalosome complex subunit 3) 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:
NC_000017.11  NT_010718.17  NC_018928.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the COPS3 gene promoter:
         p53   p300   CBF-C   CREB   NRF-2   CBF-A   CBF-B   CP1C   CP1A   CBF(2)   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCOPS3 promoter sequence
   Search Chromatin IP Primers for COPS3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat COPS3


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

Entrez Gene cytogenetic band: 17p11.2   Ensembl cytogenetic band:  17p11.2   HGNC cytogenetic band: 17p11.2

COPS3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
COPS3 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17M017151:  view genomic region     (about GC identifiers)

Start:
17,149,938 bp from pter      End:
17,184,617 bp from pter
Size:
34,680 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., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: CSN3_HUMAN, Q9UNS2 (See protein sequence)
Recommended Name: COP9 signalosome complex subunit 3  
Size: 423 amino acids; 47873 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, COPS4 and COPS8. Interacts with CK2
and PKD. Interacts with the translation initiation factor EIF3S6 and IKBKG
Miscellaneous: Amplified and overexpressed in some osteosarcomas (OS), suggesting that it may participate in TP53
degradation in OS
Sequence caution: Sequence=AAC14197.1; Type=Frameshift; Positions=5;
Secondary accessions: B2R683 B4DY81 O43191 Q7LDR6
Alternative splicing: 2 isoforms:  Q9UNS2-1   Q9UNS2-2   

Explore the universe of human proteins at neXtProt for COPS3: NX_Q9UNS2

Explore proteomics data for COPS3 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys30, Lys125, Lys243, Lys254, Lys281, Lys296, Lys312, Lys366, Lys382, Lys391,
                                 Lys406
  • Modification sites at PhosphoSitePlus

  • See COPS3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001186054.1  NP_003644.2  

    ENSEMBL proteins: 
     ENSP00000437606   ENSP00000466153   ENSP00000268717   ENSP00000464572   ENSP00000413298  
     ENSP00000463340   ENSP00000409028   ENSP00000463098   ENSP00000468536   ENSP00000463477  
     ENSP00000463195   ENSP00000464369   ENSP00000465156  

    COPS3 Human Recombinant Protein Products:

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    Cloud-Clone Corp. Proteins for COPS3

     
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    Search eBioscience for ELISAs for COPS3 


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

    Graphical View of Domain Structure for InterPro Entry Q9UNS2

    ProtoNet protein and cluster: Q9UNS2

    1 Blocks protein domain: IPB000717 Domain in components of the proteasome

    UniProtKB/Swiss-Prot: CSN3_HUMAN, Q9UNS2
    Similarity: Belongs to the CSN3 family
    Similarity: Contains 1 PCI domain


    Find genes that share domains with COPS3           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: CSN3_HUMAN, Q9UNS2
    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

         Genatlas biochemistry entry for COPS3:
    COP9 (constitutive photomorphogenic,Arabidopsis) homolog subunit 3,ubiquitously expressed,predominantly in cardiac
    and skeletal muscle,involved in signal transduction,within the Smith-Magenis critical region

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI11418127
         
    Find genes that share ontologies with COPS3           About GenesLikeMe


    Phenotypes:
         2 GenomeRNAi human phenotypes for COPS3:
     Increased cell death in HCC-19  Synthetic lethal with Ras 

         3 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Cops3):
     embryogenesis  growth/size/body  mortality/aging 

    Find genes that share phenotypes with COPS3           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for COPS3: Cops3tm1Jrl Cops3tm2Jrl

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for COPS3
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    miRNA
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    miRTarBase miRNAs that target COPS3:
    hsa-let-7c-5p (MIRT051794), hsa-mir-328-3p (MIRT043822), hsa-mir-331-3p (MIRT043413), hsa-mir-324-5p (MIRT043162), hsa-mir-25-3p (MIRT050294), hsa-mir-196a-5p (MIRT026041), hsa-mir-155-5p (MIRT020767), hsa-mir-17-5p (MIRT050851), hsa-mir-484 (MIRT041921)

    Block miRNA regulation of human, mouse, rat COPS3 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate COPS3 (see all 10):
    hsa-miR-3678-3p hsa-miR-3200-5p hsa-miR-3679-5p hsa-miR-125a-3p hsa-miR-605 hsa-miR-4290 hsa-miR-1185 hsa-miR-548m
    SwitchGear 3'UTR luciferase reporter plasmidCOPS3 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat COPS3

    Gene Editing
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    Sino Biological Human cDNA Clone for COPS3
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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
    CSN3_HUMAN, Q9UNS2: Cytoplasm. Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol3
    mitochondrion1
    peroxisome1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus ----
    GO:0005737cytoplasm IEA--
    GO:0008180COP9 signalosome IDA18850735

    Find genes that share ontologies with COPS3           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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    SuperPaths for COPS3 About    
    See pathways by source

    SuperPathContained pathways About
    1TNF-alpha/NF-kB Signaling Pathway
    TNF-alpha/NF-kB Signaling Pathway


    1 BioSystems Pathway for COPS3
        TNF-alpha/NF-kB Signaling Pathway



        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for COPS3
    Interactions:

        GeneGlobe Interaction Network for COPS3

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

    Selected Interacting proteins for COPS3 (Q9UNS21, 2, 3 ENSP000002687174) via UniProtKB, MINT, STRING, and/or I2D (see all 663)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ARAFP103981, 2, 3, ENSP000003662444EBI-350590,EBI-365961 MINT-19322 I2D: score=6 STRING: ENSP00000366244
    COPS6Q7L5N12, 3, ENSP000003041024MINT-7945693 MINT-7230300 I2D: score=7 STRING: ENSP00000304102
    COPS5Q929052, 3, ENSP000003505124MINT-7945693 MINT-7230300 I2D: score=6 STRING: ENSP00000350512
    COPS4Q9BT782, 3, ENSP000002643894MINT-7230300 I2D: score=5 STRING: ENSP00000264389
    CUL1Q136162, 3, ENSP000003268044MINT-7945693 I2D: score=1 STRING: ENSP00000326804
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001701in utero embryonic development IEA--
    GO:0007165signal transduction TAS9535219
    GO:0009416response to light stimulus TAS9535219
    GO:0010388cullin deneddylation IDA19141280

    Find genes that share ontologies with COPS3           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 COPS3 (CSN3)



    (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 COPS3 gene (2 alternative transcripts): 
    NM_001199125.1  NM_003653.3  

    Unigene Cluster for COPS3:

    COP9 signalosome subunit 3
    Hs.6076  [show with all ESTs]
    Unigene Representative Sequence: NM_003653
    18 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000539941(uc010vwv.2) ENST00000486032 ENST00000579716 ENST00000268717(uc002grd.3 uc010vww.2)
    ENST00000578317 ENST00000439936 ENST00000463097 ENST00000471414 ENST00000486810
    ENST00000577210 ENST00000417352 ENST00000584216 ENST00000583160 ENST00000492672
    ENST00000477299 ENST00000577246 ENST00000495640 ENST00000462236
    miRNA
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    Block miRNA regulation of human, mouse, rat COPS3 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate COPS3 (see all 10):
    hsa-miR-3678-3p hsa-miR-3200-5p hsa-miR-3679-5p hsa-miR-125a-3p hsa-miR-605 hsa-miR-4290 hsa-miR-1185 hsa-miR-548m
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    GenScript: all cDNA clones in your preferred vector (see all 2): COPS3 (NM_003653)
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      QuantiTect SYBR Green Assays in human, mouse, rat COPS3
      QuantiFast Probe-based Assays in human, mouse, rat COPS3

    Additional mRNA sequence: 

    AF031647.1 AF098109.1 AK297706.1 AK302304.1 AK312476.1 AK316400.1 BC001891.1 

    18 DOTS entries:

    DT.456305  DT.100882887  DT.92445117  DT.92445105  DT.100670512  DT.95147013  DT.100882883  DT.100882889 
    DT.92445111  DT.95147015  DT.97859592  DT.97859593  DT.100037854  DT.100037856  DT.100882888  DT.100882894 
    DT.91704791  DT.99949308 

    Selected AceView cDNA sequences (see all 405):

    AW513148 BI769415 CR611420 CB161088 AA308925 CR590945 AA554227 CA420829 
    BE018055 BM693242 AW960612 BE019644 BX118608 BG389528 AA196408 CN485123 
    AW589389 BP369409 BU187427 AI383606 CR618089 BM451489 AI198725 AA804364 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for COPS3 (see all 12)    About this scheme

    ExUns: 1a · 1b · 1c · 1d · 1e ^ 2 ^ 3a · 3b · 3c ^ 4 ^ 5 ^ 6a · 6b · 6c ^ 7a · 7b ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12a · 12b ^ 13a · 13b ^ 14a ·
    SP1:                                -     -                             -                                   -                                   -               
    SP2:                                -     -                       -     -                                   -                                                   
    SP3:                                -     -     -     -                 -                                   -                                                   
    SP4:                                      -                             -                                                                                       
    SP5:                                                                                                                                            -               

    ExUns: 14b · 14c · 14d
    SP1:                  
    SP2:                  
    SP3:                  
    SP4:                  
    SP5:                  


    ECgene alternative splicing isoforms for COPS3

    (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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    COPS3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GACCAGGAGA
    COPS3 Expression
    About this image


    COPS3 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Testis (Reproductive System)
     
     Esophagus (Gastrointestinal Tract)
    COPS3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    COPS3 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.6076

    UniProtKB/Swiss-Prot: CSN3_HUMAN, Q9UNS2
    Tissue specificity: Widely expressed. Expressed at high level in heart and skeletal muscle

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for COPS3

    (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 COPS3 gene from Selected species (see all 21)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cops31 , 5 COP9 (constitutive photomorphogenic) homolog, subunit more1, 5 91.88(n)1
    99.53(a)1
      11 (37.80 cM)5
    265721  NM_011991.11  NP_036121.11 
     598177955 
    chicken
    (Gallus gallus)
    Aves COPS31 COP9 constitutive photomorphogenic homolog subunit more 87.63(n)
    98.58(a)
      416504  NM_001006163.1  NP_001006163.1 
    lizard
    (Anolis carolinensis)
    Reptilia COPS36
    COP9 signalosome subunit 3
    89(a)
    1 ↔ 1
    GL343500.1(322136-377369)
    African clawed frog
    (Xenopus laevis)
    Amphibia cops3-prov2 COP9 (constitutive photomorphogenic) homolog, subunit more 82.19(n)    BC044034.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufk59f012 wufk59f01 79.35(n)   335720  BC064288.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CSN31 , 3 COP9 complex homolog subunit 31 51(a)3
    56.24(n)1
    53.79(a)1
      77F13
    403081  NM_079466.31  NP_524190.21 
    worm
    (Caenorhabditis elegans)
    Secernentea csn-36
    Protein CSN-3 (csn-3) mRNA, complete cds
    19(a)
    1 ↔ 1
    IV(194745-202585) WBGene00000815
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons COP131 COP13 48.92(n)
    39.04(a)
      831275  NM_121429.4  NP_568296.1 
    rice
    (Oryza sativa)
    Liliopsida Os08g01190001 Os08g0119000 52.45(n)
    44.67(a)
      4344535  NM_001067405.1  NP_001060870.1 


    ENSEMBL Gene Tree for COPS3 (if available)
    TreeFam Gene Tree for COPS3 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for COPS3 gene

    Find genes that share paralogs with COPS3           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for COPS3
    PGOHUM00000245791


    (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 COPS3 (see all 809)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs342011511,2
    C--17149541(+) AAAAA-/AA    
       
    /AAAA
    GGCTG
    2 -- ds50011NA 2
    rs1811504981,2
    --17149561(+) GTGCTC/TGCCTG 2 -- ds50010--------
    rs1175329071,2
    F--17149562(+) TGCTCG/ACCTGT 2 -- ds50011Minor allele frequency- A:0.01EA 120
    rs1394210571,2
    --17149650(+) TGCACC/TGCAGC 2 -- ds50010--------
    rs1180577531,2
    F--17149714(+) CCAATG/AGCATC 2 -- ds50011Minor allele frequency- A:0.01NA 120
    rs768497411,2
    --17149818(+) TTTTTG/TTAAAC 2 -- ds50011Minor allele frequency- T:0.50NA 2
    rs1499733901,2
    --17149819(+) TTTTGG/TAAACA 2 -- ds50010--------
    rs1866494631,2
    --17149856(+) AGGTGA/GTCTGA 2 -- ds50010--------
    rs2004086831,2
    --17149942(+) CTGGC-/CTTT  
            
    CTTTT
    2 -- ut310--------
    rs1905920661,2
    --17150122(+) TGATAC/GAGAAG 2 -- ut310--------

    HapMap Linkage Disequilibrium report for COPS3 (17149938 - 17184617 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for COPS3:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv833382CNV Loss17160897
    nsv833380CNV Loss17160897
    nsv9499CNV Gain18304495
    nsv469777CNV Complex16826518
    nsv155OTHER Inversion15895083
    nsv499114OTHER Inversion21111241

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing COPS3
    DNA2.0 Custom Variant and Variant Library Synthesis for COPS3

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 604665    OMIM disorders: --

    1 disease from the University of Copenhagen DISEASES database for COPS3:
    Osteosarcoma

    Find genes that share disorders with COPS3           About GenesLikeMe

    1 Novoseek inferred disease relationship for COPS3 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tumors 0 8 17366602 (7)


    Export disorders for COPS3 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 COPS3 gene, integrated from 10 sources (see all 91):
    (articles sorted by number of sources associating them with COPS3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Subunit 3 of the COP9 signal transduction complex is conserved from plants to humans and maps within the Smith-Magenis syndrome critical region in 17p11.2. (PubMed id 10191102)1, 2, 3 Potocki L.... Lupski J.R. (Genomics 1999)
    2. A novel protein complex involved in signal transduction possessing similarities to 26S proteasome subunits. (PubMed id 9535219)1, 2, 3 Seeger M.... Dubiel W. (FASEB J. 1998)
    3. Association of the mammalian proto-oncoprotein Int-6 with the three protein complexes eIF3, COP9 signalosome and 26S proteasome. (PubMed id 12220626)1, 2, 9 Hoareau Alves K.... Jalinot P. (FEBS Lett. 2002)
    4. Characterization of the human COP9 signalosome complex using affinity purification and mass spectrometry. (PubMed id 18850735)1, 2 Fang L.... Huang L. (J. Proteome Res. 2008)
    5. Amplification and overexpression of genes in 17p11.2 approximately p12 in osteosarcoma. (PubMed id 15325100)1, 2 Van Dartel M. and Hulsebos T.J.M. (Cancer Genet. Cytogenet. 2004)
    6. 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)
    7. Protein kinase CK2 and protein kinase D are associated with the COP9 signalosome. (PubMed id 12628923)1, 2 Uhle S....Dubiel W. (EMBO J. 2003)
    8. 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. (Cell 2003)
    9. Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides. (PubMed id 12665801)1, 2 Gevaert K.... Vandekerckhove J. (Nat. Biotechnol. 2003)
    10. Amplification and overexpression of COPS3 in osteosarcomas potentially target TP53 for proteasome-mediated degradation. (PubMed id 12917637)1, 2 Henriksen J....Forus A. (Oncogene 2003)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    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)
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    Entrez Gene: 8533 HGNC: 2239 AceView: COPS3 Ensembl:ENSG00000141030 euGenes: HUgn8533
    ECgene: COPS3 H-InvDB: COPS3

    (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 COPS3 Pharmacogenomics, SNPs, Pathways

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

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    Patent Information for COPS3 gene:
    Search GeneIP for patents involving COPS3

    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, 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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