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EXOSC4 Gene

protein-coding   GIFtS: 52
GCID: GC08P145133

Exosome Component 4

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(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
Exosome Component 41 2 3     RRP41A2
RRP412 3 5     Rrp41p2
Exosome Component Rrp411 2     Ski6p2
Ribosomal RNA-Processing Protein 412 3     Exosome Complex Component RRP412
SKI62 3     Exosome Complex Exonuclease RRP412
p12A2 3     hRrp41p2

External Ids:    HGNC: 181891   Entrez Gene: 545122   Ensembl: ENSG000001788967   OMIM: 6064915   UniProtKB: Q9NPD33   

Export aliases for EXOSC4 gene to outside databases

Previous GC identifers: GC08P145240 GC08P145205 GC08P140409


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for EXOSC4 Gene:
EXOSC4 (exosome component 4) is a protein-coding gene. GO annotations related to this gene include 3'-5'-exoribonuclease activity and exoribonuclease activity. An important paralog of this gene is EXOSC6.

UniProtKB/Swiss-Prot: EXOS4_HUMAN, Q9NPD3
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. EXOSC4 binds to ARE-containing RNAs

Gene Wiki entry for EXOSC4 (Exosome component 4) 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_000008.10  NC_018919.2  NT_008046.17  
Regulatory elements:
   Regulatory transcription factor binding sites in the EXOSC4 gene promoter:
         Egr-3   E2F-4   E2F-3a   E2F-5   COUP   E2F-2   c-Ets-1   E2F   E2F-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidEXOSC4 promoter sequence
   Search Chromatin IP Primers for EXOSC4

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat EXOSC4


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

Entrez Gene cytogenetic band: 8q24.3   Ensembl cytogenetic band:  8q24.3   HGNC cytogenetic band: 8q24.3

EXOSC4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
EXOSC4 gene location

GeneLoc information about chromosome 8         GeneLoc Exon Structure

GeneLoc location for GC08P145133:  view genomic region     (about GC identifiers)

Start:
145,133,522 bp from pter      End:
145,135,551 bp from pter
Size:
2,030 bases      Orientation:
plus strand

1 alternative location:
Chr8+,NW_003315923 417,266-419,295     

(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: EXOS4_HUMAN, Q9NPD3 (See protein sequence)
Recommended Name: Exosome complex component RRP41  
Size: 245 amino acids; 26383 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 DDX60
Caution: The six exosome core subunits containing a RNase PH-domain are not phosphorolytically active
1 PDB 3D structure from and Proteopedia for EXOSC4:
2NN6 (3D)    

Explore the universe of human proteins at neXtProt for EXOSC4: NX_Q9NPD3

Explore proteomics data for EXOSC4 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See EXOSC4 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_061910.1  
    ENSEMBL proteins: 
     ENSP00000315476   ENSP00000432661   ENSP00000436539  
    Reactome Protein details: Q9NPD3

    EXOSC4 Human Recombinant Protein Products:

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    Novus Biologicals EXOSC4 Proteins
    Novus Biologicals EXOSC4 Lysate
    Browse Sino Biological Recombinant Proteins
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    Cloud-Clone Corp. Proteins for EXOSC4

     
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    EXOSC4 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
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    LSBio Antibodies in human, mouse, rat for EXOSC4

    EXOSC4 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Cloud-Clone Corp. ELISAs for EXOSC4
    Cloud-Clone Corp. CLIAs for EXOSC4
    Search eBioscience for ELISAs for EXOSC4 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    4 InterPro protein domains:
     IPR015847 ExoRNase_PH_dom2
     IPR001247 ExoRNase_PH_dom1
     IPR020568 Ribosomal_S5_D2-typ_fold
     IPR027408 PNPase/RNase_PH_dom

    Graphical View of Domain Structure for InterPro Entry Q9NPD3

    ProtoNet protein and cluster: Q9NPD3

    UniProtKB/Swiss-Prot: EXOS4_HUMAN, Q9NPD3
    Similarity: Belongs to the RNase PH family


    Find genes that share domains with EXOSC4           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: EXOS4_HUMAN, Q9NPD3
    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. EXOSC4 binds to ARE-containing RNAs

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:00001753'-5'-exoribonuclease activity NAS11110791
    GO:0004532NOT exoribonuclease activity IDA17174896
    GO:0005515protein binding IPI11719186
    GO:0017091AU-rich element binding IDA16912217
         
    Find genes that share ontologies with EXOSC4           About GenesLikeMe


    Phenotypes:
         6 GenomeRNAi human phenotypes for EXOSC4:
     Cells with protrusions  Increased G2M DNA content  Increased circadian period len  S arrest 
     Synthetic lethal with Ras  Upregulation of Wnt/beta-caten 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for EXOSC4
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for EXOSC4
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for EXOSC4

    miRNA
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    GenScript: all cDNA clones in your preferred vector: EXOSC4 (NM_019037)
    Sino Biological Human cDNA Clone for EXOSC4
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for EXOSC4
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat EXOSC4

    Cell Line
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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
    EXOS4_HUMAN, Q9NPD3: Cytoplasm. Nucleus, nucleolus. Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol4
    peroxisome2
    cytoskeleton1
    extracellular1

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000178exosome (RNase complex) IDA--
    GO:0005634nucleus IDA17545563
    GO:0005730nucleolus NAS11110791
    GO:0005737cytoplasm NAS11110791
    GO:0005829cytosol TAS--

    Find genes that share ontologies with EXOSC4           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 EXOSC4 About   (see all 7)  
    See pathways by source

    SuperPathContained pathways About
    1Deadenylation-dependent mRNA decay
    Deadenylation-dependent mRNA decay0.48
    mRNA Decay by 3 to 5' Exoribonuclease0.00
    RNA degradation0.48
    2CDK-mediated phosphorylation and removal of Cdc6
    Regulation of mRNA Stability by Proteins that Bind AU-rich Elements0.62
    Destabilization of mRNA by KSRP0.00
    Destabilization of mRNA by Butyrate Response Factor 1 (BRF1)0.00
    Destabilization of mRNA by Tristetraprolin (TTP)0.00
    3PERK regulated gene expression
    PERK regulated gene expression0.90
    Activation of Genes by ATF40.90
    4Unfolded Protein Response
    Unfolded Protein Response0.61
    5Gene Expression
    Gene Expression0.40


    Find genes that share SuperPaths with EXOSC4           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 GeneGo (Thomson Reuters) Pathway for EXOSC4
        ATP/ITP metabolism


    5 Reactome Pathways for EXOSC4
        Tristetraprolin (TTP) destabilizes mRNA
    Butyrate Response Factor 1 (BRF1) destabilizes mRNA
    KSRP destabilizes mRNA
    mRNA decay by 3' to 5' exoribonuclease
    ATF4 activates genes


    1 Kegg Pathway  (Kegg details for EXOSC4):
        RNA degradation

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for EXOSC4
    Interactions:

        GeneGlobe Interaction Network for EXOSC4

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

    Selected Interacting proteins for EXOSC4 (Q9NPD31, 2, 3 ENSP000003154764) via UniProtKB, MINT, STRING, and/or I2D (see all 156)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    EXOSC1Q9Y3B21, 2, 3, ENSP000003599394EBI-371823,EBI-371892 MINT-7993644 MINT-7993893 MINT-7993837 MINT-7988296 MINT-7993717 I2D: score=4 STRING: ENSP00000359939
    EXOSC3Q9NQT51, 2, 3, ENSP000003230464EBI-371823,EBI-371866 MINT-7993644 MINT-7993837 MINT-7988296 I2D: score=7 STRING: ENSP00000323046
    EXOSC7Q150242, 3, ENSP000002655644MINT-7993644 MINT-7993893 MINT-7993837 MINT-7988296 MINT-7993717 I2D: score=4 STRING: ENSP00000265564
    EXOSC6Q5RKV62, 3, ENSP000003985974MINT-7993644 MINT-7993837 MINT-7988296 I2D: score=1 STRING: ENSP00000398597
    EXOSC2Q138681, 2, 3, ENSP000003614334EBI-371823,EBI-301735 MINT-7993644 MINT-7993893 MINT-7993837 MINT-7988296 MINT-7993717 MINT-7993943 I2D: score=11 STRING: ENSP00000361433
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 14):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000288nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay TAS--
    GO:0000460maturation of 5.8S rRNA IMP--
    GO:0000956nuclear-transcribed mRNA catabolic process IMP17545563
    GO:0006364rRNA processing NAS11110791
    GO:0010467gene expression TAS--

    Find genes that share ontologies with EXOSC4           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 EXOSC4 (EXOS4)



    (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 EXOSC4 gene: 
    NM_019037.2  

    Unigene Cluster for EXOSC4:

    Exosome component 4
    Hs.632041  [show with all ESTs]
    Unigene Representative Sequence: BM911415
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000316052(uc003zau.3) ENST00000525936 ENST00000527954
    miRNA
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    GenScript: all cDNA clones in your preferred vector: EXOSC4 (NM_019037)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for EXOSC4
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    Primer
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat EXOSC4
      QuantiTect SYBR Green Assays in human, mouse, rat EXOSC4
      QuantiFast Probe-based Assays in human, mouse, rat EXOSC4

    Additional mRNA sequence: 

    AF281133.1 AK000598.1 BC002777.2 

    5 DOTS entries:

    DT.452652  DT.40133087  DT.92424241  DT.120630996  DT.97842770 

    Selected AceView cDNA sequences (see all 108):

    AI652670 BM670476 BU623773 AK000598 BQ721052 BM700289 BC002777 AW593482 
    BQ059657 BU726431 BQ233429 CD673896 BQ055595 AI073445 BM839994 F34414 
    BU622874 BM552746 BI835782 BI835036 AA435870 BF303682 BI520548 BG029819 

    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™, 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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    EXOSC4 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TCCAGAATAA
    EXOSC4 Expression
    About this image

    EXOSC4 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    EXOSC4 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.632041
        Custom PCR Arrays for EXOSC4
    Primer
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    QuantiFast Probe-based Assays in human, mouse, rat EXOSC4
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EXOSC4

    (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 EXOSC4 gene from Selected species (see all 22)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Exosc41 , 5 exosome component 41, 5 87.48(n)1
    95.92(a)1
      15 (35.72 cM)5
    1090751  NM_175399.41  NP_780608.11 
     763273975 
    lizard
    (Anolis carolinensis)
    Reptilia EXOSC46
    exosome component 4
    73(a)
    1 ↔ 1
    AAWZ02038744(4435-8039)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.80742 Xenopus laevis transcribed sequence with moderate similarity more 81.03(n)    BJ065907.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc731752 putative exosome complex exonuclease RRP41 77.29(n)   393712  BC059525.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Ski61 Ski6 58.3(n)
    54.98(a)
      34721  NM_135774.3  NP_609618.2 
    worm
    (Caenorhabditis elegans)
    Secernentea exos-4.11 exos-4.1 49.17(n)
    43.75(a)
      13198805  NM_001026103.6  NP_001021274.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes SKI61 SKI6 43.78(n)
    36.48(a)
      853109   NP_011711.3 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons RRP411 RRP41 51.57(n)
    48.29(a)
      825335  NM_001125406.1  NP_001118878.1 


    ENSEMBL Gene Tree for EXOSC4 (if available)
    TreeFam Gene Tree for EXOSC4 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for EXOSC4 gene
    EXOSC62  

    Find genes that share paralogs with EXOSC4           About GenesLikeMe



    (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 EXOSC4 (see all 124)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 8 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs770832091,2
    C,F--145131542(+) GTAGCG/AGCTAT 1 -- us2k12Minor allele frequency- A:0.17NA WA 120
    rs1478535781,2
    --145131568(+) GACACC/TTTAGG 1 -- us2k10--------
    rs1905112751,2
    --145131597(+) CTCATC/TGTCCT 1 -- us2k10--------
    rs755738471,2
    F--145131645(+) AGTCCA/GCAGAG 1 -- us2k11Minor allele frequency- G:0.03WA 118
    rs798407661,2
    C,F--145131673(+) CTTCCC/TGCATG 1 -- us2k11Minor allele frequency- T:0.16WA 118
    rs1400604831,2
    --145131674(+) TTCCCA/GCATGC 1 -- us2k10--------
    rs1498847011,2
    --145131679(+) GCATGC/TGGCAA 1 -- us2k10--------
    rs1165530171,2
    F--145131716(+) GGCCAT/GGCGTG 1 -- us2k11Minor allele frequency- G:0.15WA 118
    rs1161227811,2
    F--145131718(+) CCATGC/TGTGGT 1 -- us2k11Minor allele frequency- T:0.14WA 118
    rs1162357201,2
    C,F--145131726(+) GGTGGC/TGGGAG 1 -- us2k11Minor allele frequency- T:0.03WA 118

    HapMap Linkage Disequilibrium report for EXOSC4 (145133522 - 145135551 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for EXOSC4 (see all 19):    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv6447CNV Insertion18451855
    nsv891809CNV Loss21882294
    dgv7949n71CNV Loss21882294
    dgv7950n71CNV Loss21882294
    dgv906n27CNV Loss19166990
    dgv7955n71CNV Loss21882294
    nsv891807CNV Loss21882294
    dgv7954n71CNV Loss21882294
    esv29971CNV Loss17803354
    dgv7940n71CNV Loss21882294

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing EXOSC4
    DNA2.0 Custom Variant and Variant Library Synthesis for EXOSC4

    (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.)
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    OMIM gene information: 606491    OMIM disorders: --


    Find genes that share disorders with EXOSC4           About GenesLikeMe


    Export disorders for EXOSC4 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 EXOSC4 gene, integrated from 10 sources (see all 37):
    (articles sorted by number of sources associating them with EXOSC4)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Three novel components of the human exosome. (PubMed id 11110791)1, 2, 3 Brouwer R.... Pruijn G.J.M. (J. Biol. Chem. 2001)
    2. The RNA exosome targets the AID cytidine deaminase to both strands of transcribed duplex DNA substrates. (PubMed id 21255825)1, 2 Basu U.... Alt F.W. (Cell 2011)
    3. Dis3-like 1: a novel exoribonuclease associated with the human exosome. (PubMed id 20531389)1, 2 Staals R.H.... Pruijn G.J. (EMBO J. 2010)
    4. Degradation of histone mRNA requires oligouridylation followed by decapping and simultaneous degradation of the mRNA both 5' to 3' and 3' to 5'. (PubMed id 18172165)1, 2 Mullen T.E. and Marzluff W.F. (Genes Dev. 2008)
    5. 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. (RNA 2007)
    6. Reconstitution, activities, and structure of the eukaryotic RNA exosome. (PubMed id 17174896)1, 2 Liu Q.... Lima C.D. (Cell 2006)
    7. Sequence-specific RNA binding mediated by the RNase PH domain of components of the exosome. (PubMed id 16912217)1, 2 Anderson J.R.... Wilusz J. (RNA 2006)
    8. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    9. 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)
    10. AU binding proteins recruit the exosome to degrade ARE-containing mRNAs. (PubMed id 11719186)1, 2 Chen C.-Y.... Karin M. (Cell 2001)

    (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)
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    Entrez Gene: 54512 HGNC: 18189 AceView: EXOSC4 Ensembl:ENSG00000178896 euGenes: HUgn54512
    ECgene: EXOSC4 Kegg: 54512 H-InvDB: EXOSC4

    (According to HUGE)
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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)
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    NameDescription
    PharmGKB entry for EXOSC4 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for EXOSC4 gene:
    Search GeneIP for patents involving EXOSC4

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



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