Gene Gene information from NCBI Gene database.
Entrez ID 23404
Gene name Exosome component 2
Gene symbol EXOSC2
Synonyms (NCBI Gene)
RRP4Rrp4pSHRFhRrp4pp7
Chromosome 9
Chromosome location 9q34.12
SNPs SNP information provided by dbSNP.
2
SNP ID Visualize variation Clinical significance Consequence
rs537467155 G>C,T Pathogenic Coding sequence variant, 5 prime UTR variant, missense variant, non coding transcript variant
rs756204866 G>A,C Pathogenic Coding sequence variant, non coding transcript variant, missense variant
miRNA miRNA information provided by mirtarbase database.
824
miRTarBase ID miRNA Experiments Reference
MIRT020557 hsa-miR-155-5p Reporter assay;Other 20584899
MIRT025693 hsa-miR-7-5p Microarray 19073608
MIRT049922 hsa-miR-30a-3p CLASH 23622248
MIRT041732 hsa-miR-484 CLASH 23622248
MIRT692944 hsa-miR-6767-3p HITS-CLIP 23313552
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
39
GO ID Ontology Definition Evidence Reference
GO:0000175 Function 3'-5'-RNA exonuclease activity TAS 8600032
GO:0000176 Component Nuclear exosome (RNase complex) IBA
GO:0000176 Component Nuclear exosome (RNase complex) IDA 26166824
GO:0000176 Component Nuclear exosome (RNase complex) NAS 20531386
GO:0000177 Component Cytoplasmic exosome (RNase complex) IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
602238 17097 ENSG00000130713
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q13868
Protein name Exosome complex component RRP4 (Exosome component 2) (Ribosomal RNA-processing protein 4)
Protein 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 maturat
PDB 2NN6 , 6D6Q , 6D6R , 6H25 , 9G8M , 9G8N , 9G8O , 9G8P
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF14382 ECR1_N 26 63 Exosome complex exonuclease RRP4 N-terminal region Domain
PF15985 KH_6 169 211 KH domain Domain
Sequence
MAMEMRLPVARKPLSERLGRDTKKHLVVPGDTITTDTGFMRGHGTYMGEEKLIASVAGSV
ERV
NKLICVKALKTRYIGEVGDIVVGRITEVQQKRWKVETNSRLDSVLLLSSMNLPGGEL
RRRSAEDELAMRGFLQEGDLISAEVQAVFSDGAVSLHTRSLKYGKLGQGVLVQVSPSLVK
RQKTHFHDLPCGASVILGNNGFIWIYPTPEH
KEEEAGGFIANLEPVSLADREVISRLRNC
IISLVTQRMMLYDTSILYCYEASLPHQIKDILKPEIMEEIVMETRQRLLEQEG
Sequence length 293
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  RNA degradation   ATF4 activates genes in response to endoplasmic reticulum stress
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
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
10
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome Likely pathogenic rs2490800900, rs756204866 RCV003148478
RCV000515462
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Clear cell carcinoma of kidney Conflicting classifications of pathogenicity ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
EXOSC2-related disorder Likely benign; Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Familial cancer of breast Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Alopecia Alopecia HPO_DG
★☆☆☆☆
Found in Text Mining only
Brachydactyly Brachydactyly HPO_DG
★☆☆☆☆
Found in Text Mining only
Cerebellar atrophy Cerebellar atrophy HPO_DG
★☆☆☆☆
Found in Text Mining only
Clumsiness - motor delay Motor delay HPO_DG
★☆☆☆☆
Found in Text Mining only
Corneal dystrophy Corneal Dystrophy HPO_DG
★☆☆☆☆
Found in Text Mining only
Dwarfism Dwarfism HPO_DG
★☆☆☆☆
Found in Text Mining only
Growth Disorders Growth disorder Pubtator 34089229, 34162742 Associate
★☆☆☆☆
Found in Text Mining only
Hearing Loss Hearing loss Pubtator 34162742 Associate
★☆☆☆☆
Found in Text Mining only
Hypothyroidism Hypothyroidism HPO_DG
★☆☆☆☆
Found in Text Mining only
Liver neoplasms Liver neoplasms CTD_human_DG 19233941
★★☆☆☆
Found in Text Mining + Unknown/Other Associations