Human Gene EXOSC2 (ENST00000372358.10_8) from GENCODE V47lift37
  Description: exosome component 2, transcript variant 1 (from RefSeq NM_014285.7)
Gencode Transcript: ENST00000372358.10_8
Gencode Gene: ENSG00000130713.17_15
Transcript (Including UTRs)
   Position: hg19 chr9:133,569,167-133,580,279 Size: 11,113 Total Exon Count: 9 Strand: +
Coding Region
   Position: hg19 chr9:133,569,179-133,579,161 Size: 9,983 Coding Exon Count: 9 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr9:133,569,167-133,580,279)mRNA (may differ from genome)Protein (293 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMGIOMIMPubMedReactomeUniProtKB
WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: EXOS2_HUMAN
DESCRIPTION: RecName: Full=Exosome complex component RRP4; AltName: Full=Exosome component 2; AltName: Full=Ribosomal RNA-processing protein 4;
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.
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.
INTERACTION: Q8TF46-1:DIS3L; NbExp=2; IntAct=EBI-301735, EBI-3895807; Q9NQT5:EXOSC3; NbExp=5; IntAct=EBI-301735, EBI-371866; Q9NPD3:EXOSC4; NbExp=4; IntAct=EBI-301735, EBI-371823; Q15024:EXOSC7; NbExp=5; IntAct=EBI-301735, EBI-371841; Q99547:MPHOSPH6; NbExp=3; IntAct=EBI-301735, EBI-373187; Q9H9D4:ZNF408; NbExp=3; IntAct=EBI-301735, EBI-347633;
SUBCELLULAR LOCATION: Cytoplasm. Nucleus, nucleolus. Nucleus.
SIMILARITY: Contains 1 S1 motif domain.
SEQUENCE CAUTION: Sequence=AAB60392.1; Type=Erroneous gene model prediction;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 12.46 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 286.92 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
3' UTR -357.001118-0.319 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR025721 - Exosome_cplx_N_dom
IPR026699 - Exosome_RNA_bind1/RRP40/RRP4
IPR022967 - RNA-binding_domain_S1

Pfam Domains:
PF14382 - Exosome complex exonuclease RRP4 N-terminal region
PF15985 - KH domain

SCOP Domains:
48726 - Immunoglobulin
50249 - Nucleic acid-binding proteins
110324 - Ribosomal L27 protein-like
54791 - Eukaryotic type KH-domain (KH-domain type I)

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2NN6 - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q13868
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologGenome BrowserGenome Browser
Gene DetailsGene Details Gene DetailsGene DetailsGene Details
Gene SorterGene Sorter Gene SorterGene SorterGene Sorter
 RGDEnsembl WormBaseSGD
    Protein SequenceProtein Sequence
    AlignmentAlignment

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000175 3'-5'-exoribonuclease activity
GO:0003723 RNA binding
GO:0005515 protein binding
GO:0008312 7S RNA binding
GO:0004532 exoribonuclease activity

Biological Process:
GO:0000467 exonucleolytic trimming to generate mature 3'-end of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)
GO:0006364 rRNA processing
GO:0030307 positive regulation of cell growth
GO:0034427 nuclear-transcribed mRNA catabolic process, exonucleolytic, 3'-5'
GO:0034475 U4 snRNA 3'-end processing
GO:0043488 regulation of mRNA stability
GO:0043928 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay
GO:0071034 CUT catabolic process
GO:0071035 nuclear polyadenylation-dependent rRNA catabolic process
GO:0071038 nuclear polyadenylation-dependent tRNA catabolic process
GO:0071049 nuclear retention of pre-mRNA with aberrant 3'-ends at the site of transcription
GO:0071051 polyadenylation-dependent snoRNA 3'-end processing

Cellular Component:
GO:0000176 nuclear exosome (RNase complex)
GO:0000177 cytoplasmic exosome (RNase complex)
GO:0000178 exosome (RNase complex)
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005730 nucleolus
GO:0005737 cytoplasm
GO:0005829 cytosol


-  Descriptions from all associated GenBank mRNAs
  AK296605 - Homo sapiens cDNA FLJ52512 complete cds, highly similar to Exosome complex exonuclease RRP4 (EC 3.1.13.-).
AK001916 - Homo sapiens cDNA FLJ11054 fis, clone PLACE1004672.
AK090512 - Homo sapiens cDNA FLJ33193 fis, clone ADRGL2005838, highly similar to Exosome complex exonuclease RRP4 (EC 3.1.13.-).
AK022460 - Homo sapiens cDNA FLJ12398 fis, clone MAMMA1002775.
AK303163 - Homo sapiens cDNA FLJ52817 complete cds, highly similar to Exosome complex exonuclease RRP4 (EC 3.1.13.-).
JD176187 - Sequence 157211 from Patent EP1572962.
BC000747 - Homo sapiens exosome component 2, mRNA (cDNA clone MGC:2403 IMAGE:2821702), complete cds.
EU176744 - Synthetic construct Homo sapiens clone IMAGE:100011512; FLH189373.01L; RZPDo839A11255D exosome component 2 (EXOSC2) gene, encodes complete protein.
DQ892753 - Synthetic construct clone IMAGE:100005383; FLH189374.01X; RZPDo839E0674D exosome component 2 (EXOSC2) gene, encodes complete protein.
AB463621 - Synthetic construct DNA, clone: pF1KB6350, Homo sapiens EXOSC2 gene for exosome component 2, without stop codon, in Flexi system.
AK092727 - Homo sapiens cDNA FLJ35408 fis, clone SKNSH2008969.
BC128445 - Homo sapiens exosome component 2, mRNA (cDNA clone IMAGE:40121885), partial cds.
JD445333 - Sequence 426357 from Patent EP1572962.
JD340460 - Sequence 321484 from Patent EP1572962.
JD142329 - Sequence 123353 from Patent EP1572962.
JD548938 - Sequence 529962 from Patent EP1572962.
JD380750 - Sequence 361774 from Patent EP1572962.
JD361480 - Sequence 342504 from Patent EP1572962.
JD237880 - Sequence 218904 from Patent EP1572962.
JD047978 - Sequence 29002 from Patent EP1572962.
JD324302 - Sequence 305326 from Patent EP1572962.
JD123122 - Sequence 104146 from Patent EP1572962.
JD250865 - Sequence 231889 from Patent EP1572962.
JD498886 - Sequence 479910 from Patent EP1572962.
JD246764 - Sequence 227788 from Patent EP1572962.
JD421852 - Sequence 402876 from Patent EP1572962.
JD556366 - Sequence 537390 from Patent EP1572962.
JD522304 - Sequence 503328 from Patent EP1572962.
JD284121 - Sequence 265145 from Patent EP1572962.
JD502614 - Sequence 483638 from Patent EP1572962.
JD511491 - Sequence 492515 from Patent EP1572962.
JD319424 - Sequence 300448 from Patent EP1572962.
JD317569 - Sequence 298593 from Patent EP1572962.
JD105533 - Sequence 86557 from Patent EP1572962.
JD158691 - Sequence 139715 from Patent EP1572962.
JD275605 - Sequence 256629 from Patent EP1572962.
JD444350 - Sequence 425374 from Patent EP1572962.
JD263705 - Sequence 244729 from Patent EP1572962.
JD168232 - Sequence 149256 from Patent EP1572962.
JD304988 - Sequence 286012 from Patent EP1572962.
JD048008 - Sequence 29032 from Patent EP1572962.
JD351774 - Sequence 332798 from Patent EP1572962.
JD517929 - Sequence 498953 from Patent EP1572962.
JD219986 - Sequence 201010 from Patent EP1572962.
JD171697 - Sequence 152721 from Patent EP1572962.
JD087563 - Sequence 68587 from Patent EP1572962.
JD540239 - Sequence 521263 from Patent EP1572962.
JD207128 - Sequence 188152 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q13868 (Reactome details) participates in the following event(s):

R-HSA-450422 KSRP recruits RNA degradation activities
R-HSA-450431 ZFP36 (TTP) recruits RNA degradation activities
R-HSA-450488 BRF1 Complex recruits RNA degradation activities
R-HSA-430028 Exosome Complex hydrolyzes mRNA by 3' to 5' exoribonuclease digestion
R-HSA-450604 KSRP (KHSRP) binds and destabilizes mRNA
R-HSA-450513 Tristetraprolin (TTP, ZFP36) binds and destabilizes mRNA
R-HSA-450385 Butyrate Response Factor 1 (BRF1) binds and destabilizes mRNA
R-HSA-450531 Regulation of mRNA stability by proteins that bind AU-rich elements
R-HSA-429958 mRNA decay by 3' to 5' exoribonuclease
R-HSA-8953854 Metabolism of RNA
R-HSA-6791226 Major pathway of rRNA processing in the nucleolus and cytosol
R-HSA-429914 Deadenylation-dependent mRNA decay
R-HSA-8868773 rRNA processing in the nucleus and cytosol
R-HSA-72312 rRNA processing

-  Other Names for This Gene
  Alternate Gene Symbols: A3KFL3, A3KFL4, B4DKK6, ENST00000372358.1, ENST00000372358.2, ENST00000372358.3, ENST00000372358.4, ENST00000372358.5, ENST00000372358.6, ENST00000372358.7, ENST00000372358.8, ENST00000372358.9, EXOS2_HUMAN, EXOSC2 , NM_014285, Q13868, Q9NUY4, RRP4 , uc318jvs.1, uc318jvs.2
UCSC ID: ENST00000372358.10_8
RefSeq Accession: NM_014285.7
Protein: Q13868 (aka EXOS2_HUMAN or RRP4_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.