ENSG00000130713


Homo sapiens

Features
Gene ID: ENSG00000130713
  
Biological name :EXOSC2
  
Synonyms : EXOSC2 / exosome component 2 / Q13868
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 9
Strand: 1
Band: q34.12
Gene start: 130693721
Gene end: 130704894
  
Corresponding Affymetrix probe sets: 209527_at (Human Genome U133 Plus 2.0 Array)   214507_s_at (Human Genome U133 Plus 2.0 Array)   216117_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000361426
Ensembl peptide - ENSP00000444917
Ensembl peptide - ENSP00000418463
Ensembl peptide - ENSP00000361433
Ensembl peptide - ENSP00000361427
Ensembl peptide - ENSP00000361425
NCBI entrez gene - 23404     See in Manteia.
OMIM - 602238
RefSeq - XM_017014558
RefSeq - XM_006717023
RefSeq - XM_005272176
RefSeq - NM_001282708
RefSeq - NM_001282709
RefSeq - NM_014285
RefSeq Peptide - NP_001269637
RefSeq Peptide - NP_001269638
RefSeq Peptide - NP_055100
swissprot - Q13868
swissprot - A3KFL5
swissprot - A3KFL1
swissprot - A3KFL2
Ensembl - ENSG00000130713
  
Related genetic diseases (OMIM): 617763 - Short stature, hearing loss, retinitis pigmentosa, and distinctive facies, 617763
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 exosc2ENSDARG00000028688Danio rerio
 EXOSC2ENSGALG00000040373Gallus gallus
 Exosc2ENSMUSG00000039356Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR004088  K Homology domain, type 1
 IPR012340  Nucleic acid-binding, OB-fold
 IPR025721  Exosome complex component, N-terminal domain
 IPR026699  Exosome complex RNA-binding protein 1/RRP40/RRP4
 IPR036612  K Homology domain, type 1 superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000467 exonucleolytic trimming to generate mature 3"-end of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) IBA
 biological_processGO:0006364 rRNA processing TAS
 biological_processGO:0030307 positive regulation of cell growth IMP
 biological_processGO:0034427 nuclear-transcribed mRNA catabolic process, exonucleolytic, 3"-5" IBA
 biological_processGO:0034475 U4 snRNA 3"-end processing IBA
 biological_processGO:0043488 regulation of mRNA stability TAS
 biological_processGO:0043928 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay IBA
 biological_processGO:0071034 CUT catabolic process IBA
 biological_processGO:0071035 nuclear polyadenylation-dependent rRNA catabolic process IBA
 biological_processGO:0071038 nuclear polyadenylation-dependent tRNA catabolic process IBA
 biological_processGO:0071049 nuclear retention of pre-mRNA with aberrant 3"-ends at the site of transcription IBA
 biological_processGO:0071051 polyadenylation-dependent snoRNA 3"-end processing IBA
 cellular_componentGO:0000176 nuclear exosome (RNase complex) IBA
 cellular_componentGO:0000177 cytoplasmic exosome (RNase complex) IBA
 cellular_componentGO:0000178 exosome (RNase complex) IDA
 cellular_componentGO:0005634 nucleus TAS
 cellular_componentGO:0005654 nucleoplasm TAS
 cellular_componentGO:0005730 nucleolus IEA
 cellular_componentGO:0005737 cytoplasm TAS
 cellular_componentGO:0005829 cytosol TAS
 molecular_functionGO:0000175 3"-5"-exoribonuclease activity TAS
 molecular_functionGO:0003723 RNA binding IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0008312 7S RNA binding TAS


Pathways (from Reactome)
Pathway description
ATF4 activates genes
mRNA decay by 3 to 5 exoribonuclease
Butyrate Response Factor 1 (BRF1) binds and destabilizes mRNA
Tristetraprolin (TTP, ZFP36) binds and destabilizes mRNA
KSRP (KHSRP) binds and destabilizes mRNA
Major pathway of rRNA processing in the nucleolus and cytosol


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
No match
  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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