Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
23404
Gene name Gene Name - the full gene name approved by the HGNC.
Exosome component 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
EXOSC2
Synonyms (NCBI Gene) Gene synonyms aliases
RRP4, Rrp4p, SHRF, hRrp4p, p7
Disease Acronyms (UniProt) Disease acronyms from UniProt database
SHRF
Chromosome Chromosome number
9
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
9q34.12
SNPs SNP information provided by dbSNP.
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.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000175 Function 3'-5'-exoribonuclease activity TAS 8600032
GO:0000176 Component Nuclear exosome (RNase complex) IBA 21873635
GO:0000176 Component Nuclear exosome (RNase complex) IDA 26166824
GO:0000177 Component Cytoplasmic exosome (RNase complex) IBA 21873635
GO:0000178 Component Exosome (RNase complex) IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
602238 17097 ENSG00000130713
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Brachydactyly Brachydactyly rs121908949, rs28937580, rs121909082, rs104894122, rs863223289, rs863223290, rs104894121, rs1587657302, rs863223292, rs74315386, rs74315387, rs28936397, rs753691079, rs121909348, rs121917852
View all (22 more)
Corneal dystrophy Corneal dystrophy rs121909212, rs121909214, rs760714959, rs766305306, rs1554579819, rs1554579832, rs1554579878
Hearing loss Sensorineural Hearing Loss (disorder) rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359
View all (184 more)
Hypothyroidism Hypothyroidism rs869320723, rs121908862, rs121908863, rs121908865, rs121908866, rs121908867, rs121908870, rs121908871, rs121908872, rs2140110277, rs121908881, rs121908884, rs121908885, rs786205080, rs1586182912
View all (22 more)
Associations from Text Mining
Disease Name Relationship Type References
COVID 19 Associate 36241425
Growth Disorders Associate 34089229, 34162742
Hearing Loss Associate 34162742
Multiple Myeloma Associate 36861343
Retinitis Pigmentosa Associate 34089229, 34162742
Small Cell Lung Carcinoma Associate 34719665