Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
11340
Gene name Gene Name - the full gene name approved by the HGNC.
Exosome component 8
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
EXOSC8
Synonyms (NCBI Gene) Gene synonyms aliases
CIP3, EAP2, OIP2, PCH1C, RRP43, Rrp43p, bA421P11.3, p9
Chromosome Chromosome number
13
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
13q13.3
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a 3`-5` exoribonuclease that specifically interacts with mRNAs containing AU-rich elements. The encoded protein is part of the exosome complex that is important for the degradation of numerous RNA species. A pseudogene of this gene is fo
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT030408 hsa-miR-24-3p Microarray 19748357
MIRT973355 hsa-miR-192 CLIP-seq
MIRT973356 hsa-miR-215 CLIP-seq
MIRT973357 hsa-miR-299-5p CLIP-seq
MIRT973358 hsa-miR-3688-3p CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000176 Component Nuclear exosome (RNase complex) IBA
GO:0000176 Component Nuclear exosome (RNase complex) NAS 20531386
GO:0000177 Component Cytoplasmic exosome (RNase complex) IBA
GO:0000177 Component Cytoplasmic exosome (RNase complex) NAS 20531386
GO:0000178 Component Exosome (RNase complex) IDA 20531389
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
606019 17035 ENSG00000120699
Protein
UniProt ID Q96B26
Protein name Exosome complex component RRP43 (Exosome component 8) (Opa-interacting protein 2) (OIP-2) (Ribosomal RNA-processing protein 43) (p9)
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
PF01138 RNase_PH 31 166 Domain
PF03725 RNase_PH_C 191 258 Domain
Sequence
Sequence length 276
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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Pontoneocerebellar hypoplasia pontocerebellar hypoplasia, type 1c rs606231285 N/A
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
13q deletion syndrome Stimulate 34573300
Contracture Associate 38017281
Esotropia Associate 38017281
Facies Associate 38017281
Neoplasms Associate 32433464
Nervous System Diseases Associate 34573300
Nystagmus Pathologic Associate 38017281
Pontocerebellar Hypoplasia Associate 38017281
Prostatic Neoplasms Associate 28403887
Signs and Symptoms Respiratory Associate 38017281