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

EXOSC2 Gene

protein-coding   GIFtS: 59
GCID: GC09P133569

Exosome Component 2

  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
Exosome Component 21 2 3     Exosome Complex Component RRP42
Ribosomal RNA-Processing Protein 42 3     Exosome Complex Exonuclease RRP42
RRP42 3     hRrp4p2
3' 5' Exoribonuclease (RRP4)1     Homolog Of Yeast RRP4 (Ribosomal RNA Processing 4), 3' 5' Exoribonuclease
(RRP4)2
Homolog Of Yeast RRP4 (Ribosomal RNA Processing 4)1     Homolog Of Yeast RRP4 (Ribosomal RNA Processing 4), 3'-5'-Exoribonuclease2
Rrp4p2     p72

External Ids:    HGNC: 170971   Entrez Gene: 234042   Ensembl: ENSG000001307137   OMIM: 6022385   UniProtKB: Q138683   

Export aliases for EXOSC2 gene to outside databases

Previous GC identifers: GC09P128846 GC09P130598 GC09P132558 GC09P103055


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

GeneCards Summary for EXOSC2 Gene: 
EXOSC2 (exosome component 2) is a protein-coding gene. Diseases associated with EXOSC2 include polymyositis, and intrahepatic cholangiocarcinoma, and among its related super-pathways are RNA degradation and Destabilization of mRNA by Tristetraprolin (TTP). GO annotations related to this gene include 7S RNA binding and 3'-5'-exoribonuclease activity.

UniProtKB/Swiss-Prot: EXOS2_HUMAN, Q13868
Function: Non-catalytic component of the RNA exosome complex which has 3'->5' exoribonuclease activity and
participates in a multitude of cellular RNA processing and degradation events. In the nucleus, the RNA exosome
complex is involved in proper maturation of stable RNA species such as rRNA, snRNA and snoRNA, in the elimination
of RNA processing by-products and non-coding 'pervasive' transcripts, such as antisense RNA species and
promoter-upstream transcripts (PROMPTs), and of mRNAs with processing defects, thereby limiting or excluding
their export to the cytoplasm. The RNA exosome may be involved in Ig class switch recombination (CSR) and/or Ig
variable region somatic hypermutation (SHM) by targeting AICDA deamination activity to transcribed dsDNA
substrates. In the cytoplasm, the RNA exosome complex is involved in general mRNA turnover and specifically
degrades inherently unstable mRNAs containing AU-rich elements (AREs) within their 3' untranslated regions, and
in RNA surveillance pathways, preventing translation of aberrant mRNAs. It seems to be involved in degradation of
histone mRNA. The catalytic inactive RNA exosome core complex of 9 subunits (Exo-9) is proposed to play a pivotal
role in the binding and presentation of RNA for ribonucleolysis, and to serve as a scaffold for the association
with catalytic subunits and accessory proteins or complexes. EXOSC2 as peripheral part of the Exo-9 complex
stabilizes the hexameric ring of RNase PH-domain subunits through contacts with EXOSC4 and EXOSC7

Gene Wiki entry for EXOSC2 (Exosome component 2) 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_000009.11  NT_035014.4  NC_018920.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the EXOSC2 gene promoter:
         AhR   ER-alpha   STAT1   AML1a   LCR-F1   Arnt   Egr-2   FOXO4   STAT3   c-Myb   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidEXOSC2 promoter sequence
   Search SABiosciences Chromatin IP Primers for EXOSC2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat EXOSC2


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

Entrez Gene cytogenetic band: 9q34   Ensembl cytogenetic band:  9q34.12   HGNC cytogenetic band: 9q34

EXOSC2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
EXOSC2 gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09P133569:  view genomic region     (about GC identifiers)

Start:
133,569,108 bp from pter      End:
133,580,452 bp from pter
Size:
11,345 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: EXOS2_HUMAN, Q13868 (See protein sequence)
Recommended Name: Exosome complex component RRP4  
Size: 293 amino acids; 32789 Da
Subunit: Component of the RNA exosome complex. Specifically part of the catalytically inactive RNA exosome core
(Exo-9) complex which is believed to associate with catalytic subunits EXOSC10, and DIS3 or DIS3L in cytoplasmic-
and nuclear-specific RNA exosome complex forms. Exo-9 is formed by a hexameric ring of RNase PH domain-containing
subunits specifically containing the heterodimers EXOSC4-EXOSC9, EXOSC5-EXOSC8 and EXOSC6-EXOSC7, and peripheral
S1 domain-containing components EXOSC1, EXOSC2 and EXOSC3 located on the top of the ring structure. Interacts
with GTPBP1
Subcellular location: Cytoplasm. Nucleus, nucleolus. Nucleus
Sequence caution: Sequence=AAB60392.1; Type=Erroneous gene model prediction;
1 PDB 3D structure from and Proteopedia for EXOSC2:
2NN6 (3D)    
Secondary accessions: A3KFL3 Q9NUY4

Explore the universe of human proteins at neXtProt for EXOSC2: NX_Q13868

Explore proteomics data for EXOSC2 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q13868

  • EXOSC2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    EXOSC2 Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_001269637.1  NP_001269638.1  NP_055100.2  

    ENSEMBL proteins: 
     ENSP00000361433   ENSP00000361427   ENSP00000361426   ENSP00000361425   ENSP00000418463  
     ENSP00000444917  
    Reactome Protein details: Q13868
    Human Recombinant Protein Products for EXOSC2: 
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    GenScript Custom Purified and Recombinant Proteins Services for EXOSC2
    Novus Biologicals EXOSC2 Protein
    Novus Biologicals EXOSC2 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for EXOSC2 

    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:0000178exosome (RNase complex) IDA--
    GO:0005634nucleus IDA17545563
    GO:0005730nucleolus IEA--
    GO:0005737cytoplasm IDA17545563
    GO:0005829cytosol TAS--

    EXOSC2 for ontologies           About GeneDecksing



    EXOSC2 Antibody Products: 
    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
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    Novus Biologicals EXOSC2 Antibodies
    Abcam antibodies for EXOSC2
    Cloud-Clone Corp. Antibodies for EXOSC2 
    ThermoFisher Antibody for EXOSC2
    LSBio Antibodies in human, mouse, rat for EXOSC2 

    Assay Products for EXOSC2: 
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    GenScript Custom Assay Services for EXOSC2
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for EXOSC2 
    Cloud-Clone Corp. CLIAs for EXOSC2


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    3 InterPro protein domains:
     IPR025721 Exosome_cplx_N_dom
     IPR022967 RNA-binding_domain_S1
     IPR026699 Exosome_RNA_bind1/RRP40/RRP4

    Graphical View of Domain Structure for InterPro Entry Q13868

    ProtoNet protein and cluster: Q13868

    1 Blocks protein domain: IPB003029 RNA binding S1

    UniProtKB/Swiss-Prot: EXOS2_HUMAN, Q13868
    Similarity: Contains 1 S1 motif domain


    EXOSC2 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: EXOS2_HUMAN, Q13868
    Function: Non-catalytic component of the RNA exosome complex which has 3'->5' exoribonuclease activity and
    participates in a multitude of cellular RNA processing and degradation events. In the nucleus, the RNA exosome
    complex is involved in proper maturation of stable RNA species such as rRNA, snRNA and snoRNA, in the elimination
    of RNA processing by-products and non-coding 'pervasive' transcripts, such as antisense RNA species and
    promoter-upstream transcripts (PROMPTs), and of mRNAs with processing defects, thereby limiting or excluding
    their export to the cytoplasm. The RNA exosome may be involved in Ig class switch recombination (CSR) and/or Ig
    variable region somatic hypermutation (SHM) by targeting AICDA deamination activity to transcribed dsDNA
    substrates. In the cytoplasm, the RNA exosome complex is involved in general mRNA turnover and specifically
    degrades inherently unstable mRNAs containing AU-rich elements (AREs) within their 3' untranslated regions, and
    in RNA surveillance pathways, preventing translation of aberrant mRNAs. It seems to be involved in degradation of
    histone mRNA. The catalytic inactive RNA exosome core complex of 9 subunits (Exo-9) is proposed to play a pivotal
    role in the binding and presentation of RNA for ribonucleolysis, and to serve as a scaffold for the association
    with catalytic subunits and accessory proteins or complexes. EXOSC2 as peripheral part of the Exo-9 complex
    stabilizes the hexameric ring of RNase PH-domain subunits through contacts with EXOSC4 and EXOSC7

         Gene Ontology (GO): 5/7 molecular function terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:00001753'-5'-exoribonuclease activity TAS8600032
    GO:0003723RNA binding ----
    GO:0003735structural constituent of ribosome IEA--
    GO:0004527exonuclease activity ----
    GO:0004532NOT exoribonuclease activity IDA17174896
         
    EXOSC2 for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for EXOSC2 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for EXOSC2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for EXOSC2 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for EXOSC2 

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat EXOSC2
    5 QIAGEN miScript miRNA Assays for microRNAs that regulate EXOSC2:
    hsa-miR-141 hsa-miR-4307 hsa-miR-200a hsa-miR-7 hsa-miR-3714
    SwitchGear 3'UTR luciferase reporter plasmidEXOSC2 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for EXOSC2
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat EXOSC2

    Gene Editing
    Products:
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    Sirion Biotech Customized adenovirus for overexpression of EXOSC2

    Clone
    Products:
         
    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene clones in human, mouse for EXOSC2 (see all 7)
    OriGene ORF clones in mouse, rat for EXOSC2
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: EXOSC2 (NM_014285)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for EXOSC2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat EXOSC2
    Sirion Biotech Customized lentivirus for stable overexpression of EXOSC2 
                         Customized lentivirus expression plasmids for stable overexpression of EXOSC2 

    Cell Line
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    Search LifeMap BioReagents cell lines for EXOSC2
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EXOSC2


    (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

    SuperPaths for EXOSC2 About   (see all 6)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Deadenylation-dependent mRNA decay
    Deadenylation-dependent mRNA decay0.49
    RNA degradation0.49
    2Destabilization of mRNA by Tristetraprolin (TTP)
    Destabilization of mRNA by Tristetraprolin (TTP)0.79
    mRNA Decay by 3' to 5' Exoribonuclease0.56
    Destabilization of mRNA by Butyrate Response Factor 1 (BRF1)0.79
    Destabilization of mRNA by KSRP0.56
    3Metabolism of mRNA
    Metabolism of mRNA0.92
    Metabolism of RNA0.92
    4CDK-mediated phosphorylation and removal of Cdc6
    Regulation of mRNA Stability by Proteins that Bind AU-rich Elements0.63
    5Generic Transcription Pathway
    Gene Expression0.47

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for EXOSC2
        ATP/ITP metabolism


    1 GeneGo (Thomson Reuters) Pathway for EXOSC2
        ATP/ITP metabolism

    5/9        Reactome Pathways for EXOSC2 (see all 9)
        Regulation of mRNA Stability by Proteins that Bind AU-rich Elements
    Destabilization of mRNA by Butyrate Response Factor 1 (BRF1)
    Destabilization of mRNA by KSRP
    mRNA Decay by 3' to 5' Exoribonuclease
    Deadenylation-dependent mRNA decay


    1         Kegg Pathway  (Kegg details for EXOSC2):
        RNA degradation


    EXOSC2 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for EXOSC2

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

    5/105 Interacting proteins for EXOSC2 (Q138681, 2, 3 ENSP000003614334) via UniProtKB, MINT, STRING, and/or I2D (see all 105)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    EXOSC7Q150241, 2, 3, ENSP000002655644EBI-301735,EBI-371841 MINT-7993644 MINT-7993893 MINT-7993837 MINT-7988296 MINT-7993717 I2D: score=5 STRING: ENSP00000265564
    EXOSC9Q062652, 3, ENSP000003689844MINT-7993644 MINT-7993893 MINT-7993837 MINT-7988296 MINT-7993717 I2D: score=7 STRING: ENSP00000368984
    EXOSC1Q9Y3B22, 3, ENSP000003599394MINT-7993644 MINT-7993893 MINT-7993837 MINT-7988296 MINT-7993717 I2D: score=2 STRING: ENSP00000359939
    EXOSC5Q9NQT42, 3, ENSP000002212334MINT-7993644 MINT-7993837 MINT-7988296 MINT-7993717 I2D: score=2 STRING: ENSP00000221233
    EXOSC6Q5RKV62, 3, ENSP000003985974MINT-7993644 MINT-7993837 MINT-7988296 I2D: score=2 STRING: ENSP00000398597
    About this table

    Gene Ontology (GO): 5/8 biological process terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000288nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay TAS--
    GO:0006364rRNA processing IEA--
    GO:0006412translation IEA--
    GO:0010467gene expression TAS--
    GO:0016070RNA metabolic process TAS--

    EXOSC2 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 EXOSC2 (EXOS2)

    Search CenterWatch for drugs/clinical trials and news about EXOSC2 / EXOS2

    (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 EXOSC2 gene (3 alternative transcripts): 
    NM_001282708.1  NM_001282709.1  NM_014285.6  

    Unigene Cluster for EXOSC2:

    Exosome component 2
    Hs.654643  [show with all ESTs]
    Unigene Representative Sequence: AK092727
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000491115 ENST00000372358(uc004bzu.2 uc011mbz.1) ENST00000430138
    ENST00000490641 ENST00000372352 ENST00000372351 ENST00000372350 ENST00000463488
    ENST00000495699 ENST00000467138(uc011mca.1) ENST00000546165
    miRNA
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    5 QIAGEN miScript miRNA Assays for microRNAs that regulate EXOSC2:
    hsa-miR-141 hsa-miR-4307 hsa-miR-200a hsa-miR-7 hsa-miR-3714
    SwitchGear 3'UTR luciferase reporter plasmidEXOSC2 3' UTR sequence
    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector: EXOSC2 (NM_014285)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for EXOSC2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat EXOSC2
    Sirion Biotech Customized lentivirus for stable overexpression of EXOSC2 
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat EXOSC2
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat EXOSC2

    Additional mRNA sequence: 

    AK001916.1 AK022460.1 AK090512.1 AK092727.1 AK296605.1 AK303163.1 BC000747.2 BC128445.1 

    16 DOTS entries:

    DT.444314  DT.100812807  DT.91856817  DT.121162642  DT.121162637  DT.121162618  DT.121162628  DT.86847305 
    DT.95085222  DT.95085224  DT.100037849  DT.100740680  DT.100812806  DT.95204920  DT.97781711  DT.91844066 

    24/247 AceView cDNA sequences (see all 247):

    AA292965 CB154063 BQ676817 AK001916 BG222580 BQ878517 BE766537 CR590387 
    BU169038 CB150166 BE297103 AI144254 BE263460 BU845450 CR622078 BE673487 
    BQ677532 BX400401 BU163024 BQ928682 BE263800 AI800555 BU849042 NM_014285 

    GeneLoc Exon Structure

    5/12 Alternative Splicing Database (ASD) splice patterns (SP) for EXOSC2 (see all 12)    About this scheme

    ExUns: 1a · 1b ^ 2a · 2b ^ 3a · 3b · 3c ^ 4a · 4b · 4c ^ 5a · 5b · 5c ^ 6a · 6b ^ 7a · 7b · 7c ^ 8 ^ 9a · 9b · 9c
    SP1:                    -           -     -     -                       -     -     -                                                   
    SP2:                    -           -     -     -                       -     -     -           -     -                                 
    SP3:                    -           -     -     -                       -     -     -     -     -                                       
    SP4:                    -           -     -     -     -     -           -     -     -                                                   
    SP5:                    -           -     -     -                                                                                       


    ECgene alternative splicing isoforms for EXOSC2

    (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

    EXOSC2 expression in normal human tissues (normalized intensities)      EXOSC2 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AAGAAAATAA
    EXOSC2 Expression
    About this image


    EXOSC2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/36 selected tissues (see all 36) fully expand
     
     Epithelium
             vagina ; squamous epithelial cells   
     
     Testis (Reproductive System)    fully expand to see all 4 entries
             Leydig Cells Testis Interstitium
             seminal vesicle ; glandular cells   
     
     Colon (Gastrointestinal Tract)    fully expand to see all 4 entries
             colon ; peripheral nerve/ganglion   
     
     Uterus
             uterus, post-menopause ; glandular cells   
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Cerebral Cortex

    See EXOSC2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for EXOSC2

    SOURCE GeneReport for Unigene cluster: Hs.654643
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    (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 EXOSC2 gene from 10/24 species (see all 24)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Exosc21 , 5 exosome component 21, 5 87.37(n)1
    93.86(a)1
      2 (21.86 cM)5
    2277151  NM_144886.21  NP_659135.11 
     316707155 
    chicken
    (Gallus gallus)
    Aves EXOSC21 exosome component 2 76.37(n)
    85.62(a)
      417182  NM_001012798.2  NP_001012816.2 
    lizard
    (Anolis carolinensis)
    Reptilia EXOSC26
    exosome component 2
    85(a)
    1 ↔ 1
    AAWZ02036348(11067-26517)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.50172 Transcribed sequence with moderate similarity to protein more 75.41(n)    BX687268.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufa97b012 Transcribed sequence with moderate similarity to protein more 74.19(n)    BQ133316.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Rrp41 CG3931-PA 62.13(n)
    59.56(a)
      37731  NM_137963.1  NP_611807.1 
    worm
    (Caenorhabditis elegans)
    Secernentea exos-21 Protein EXOS-2 48.92(n)
    42.45(a)
      177403  NM_068577.2  NP_500978.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes RRP4(YHR069C)4
    RRP41
    Exosome non-catalytic core component; involved in 3'-5' more4
    Rrp4p1
    51.28(n)1
    47.31(a)1
      8(234658-233579)4
    8564661, 4  NP_011936.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons RRP41 exosome complex component RRP4 54.63(n)
    51.11(a)
      839521  NM_100218.4  NP_171835.1 
    rice
    (Oryza sativa)
    Liliopsida Os04g05200001 hypothetical protein 51.44(n)
    43.7(a)
      4336421  NM_001059867.1  NP_001053332.1 


    ENSEMBL Gene Tree for EXOSC2 (if available)
    TreeFam Gene Tree for EXOSC2 (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

    10/335 SNPs in EXOSC2 are shown (see all 335)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1455316111,2
    --133567329(+) GTAAGC/TCATAA 1 -- us2k10--------
    rs1154674851,2
    F--133567378(+) GTCTCG/AAAAAA 1 -- us2k11Minor allele frequency- A:0.02WA 118
    rs37583061,2
    C,F,H--133567399(-) GCACCT/CTTTTT 1 -- us2k113Minor allele frequency- C:0.09NS NA WA EA 1826
    rs1465227961,2
    --133567436(+) TGGGGA/TTGGGA 1 -- us2k10--------
    rs1863448031,2
    --133567482(+) AGTTAC/GGGGTC 1 -- us2k10--------
    rs1910943801,2
    --133567548(+) GAAGAC/TGGGCT 1 -- us2k10--------
    rs1407599121,2
    C--133567595(+) ACTCAC/GCAAAG 1 -- us2k10--------
    rs1821171471,2
    --133567613(+) CGAAGC/GACTCG 1 -- us2k10--------
    rs1868014581,2
    --133567623(+) GGGCTA/GTTTCT 1 -- us2k10--------
    rs1926914741,2
    --133567691(+) GCAGCC/TATCTG 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for EXOSC2 (133569108 - 133580452 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for EXOSC2:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv831735CNV Loss17160897
    nsv825122CNV Gain20364138

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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: 602238    OMIM disorders: --

    7 diseases for EXOSC2:    About MalaCards
    polymyositis    intrahepatic cholangiocarcinoma    cholangiocarcinoma    acute leukemia
    acute lymphoblastic leukemia    lymphoblastic leukemia    leukemia


    EXOSC2 for disorders           About GeneDecksing

    Genetic Association Database (GAD): EXOSC2

    Export disorders for EXOSC2 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 EXOSC2 gene, integrated from 9 sources (see all 63):
    (articles sorted by number of sources associating them with EXOSC2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The 3' end of yeast 5.8S rRNA is generated by an exonuclease processing mechanism. (PubMed id 8600032)1, 2, 3 Mitchell P.... Tollervey D. (1996)
    2. The exosome: a conserved eukaryotic RNA processing complex containing multiple 3'-->5' exoribonucleases. (PubMed id 9390555)1, 2, 9 Mitchell P.... Tollervey D. (1997)
    3. Dis3-like 1: a novel exoribonuclease associated with the human exosome. (PubMed id 20531389)1, 2 Staals R.H....Pruijn G.J. (2010)
    4. Human cell growth requires a functional cytoplasmic exosome, which is involved in various mRNA decay pathways. (PubMed id 17545563)1, 2 van Dijk E.L....Pruijn G.J. (2007)
    5. Reconstitution, activities, and structure of the eukaryotic RNA exosome. (PubMed id 17174896)1, 2 Liu Q.... Lima C.D. (2006)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    7. 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)
    8. AU binding proteins recruit the exosome to degrade ARE-containing mRNAs. (PubMed id 11719186)1, 2 Chen C.-Y.... Karin M. (2001)
    9. The yeast exosome and human PM-Scl are related complexes of 3'-->5' exonucleases. (PubMed id 10465791)1, 2 Allmang C....Mitchell P. (1999)
    10. Sequence identification of 2,375 human brain genes. (PubMed id 1538749)1, 3 Adams M.D.... Venter J.C. (1992)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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
    Entrez Gene: 23404 HGNC: 17097 AceView: EXOSC2 Ensembl:ENSG00000130713 euGenes: HUgn23404
    ECgene: EXOSC2 Kegg: 23404 H-InvDB: EXOSC2

    (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 EXOSC2 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 EXOSC2 gene:
    Search GeneIP for patents involving EXOSC2

    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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