EXOSC8 (exosome component 8)

Gene

• Entrez ID: 11340
• Gene name: Exosome component 8
• Gene symbol: EXOSC8
• Synonyms (NCBI Gene): CIP3, EAP2, OIP2, PCH1C, RRP43, Rrp43p, bA421P11.3, p9
• Chromosome: 13
• Chromosome location: 13q13.3
• Summary: 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

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
MIRT973359	hsa-miR-522	CLIP-seq
MIRT973360	hsa-miR-548ac	CLIP-seq
MIRT973361	hsa-miR-548ae	CLIP-seq
MIRT973362	hsa-miR-548aj	CLIP-seq
MIRT973363	hsa-miR-548am	CLIP-seq
MIRT973364	hsa-miR-548d-3p	CLIP-seq
MIRT973365	hsa-miR-548x	CLIP-seq
MIRT973366	hsa-miR-548z	CLIP-seq
MIRT2449007	hsa-miR-2052	CLIP-seq
MIRT2449008	hsa-miR-4666-3p	CLIP-seq
MIRT2449009	hsa-miR-4762-5p	CLIP-seq
MIRT2449010	hsa-miR-520d-5p	CLIP-seq
MIRT2449011	hsa-miR-524-5p	CLIP-seq

Gene ontology (GO)

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
GO:0000178	Component	Exosome (RNase complex)	IEA
GO:0000178	Component	Exosome (RNase complex)	NAS	20531386
GO:0000467	Process	Exonucleolytic trimming to generate mature 3'-end of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	IBA
GO:0001650	Component	Fibrillar center	IDA
GO:0003723	Function	RNA binding	IEA
GO:0004532	Function	RNA exonuclease activity	IDA	17174896
GO:0005515	Function	Protein binding	IPI	12419256, 15231747, 20531389, 21255825, 24981860, 25043052, 25416956, 25910212, 26496610, 26871637, 28514442, 31515488, 32296183, 33961781, 39251607
GO:0005634	Component	Nucleus	IDA	17545563, 20531386
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005694	Component	Chromosome	IDA
GO:0005730	Component	Nucleolus	IDA	20531386
GO:0005730	Component	Nucleolus	IEA
GO:0005737	Component	Cytoplasm	IDA	17545563
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA	20531386
GO:0005829	Component	Cytosol	TAS
GO:0006364	Process	RRNA processing	IEA
GO:0006396	Process	RNA processing	IDA	17174896, 20531386
GO:0006396	Process	RNA processing	IEA
GO:0006401	Process	RNA catabolic process	IDA	17174896, 20531386
GO:0006401	Process	RNA catabolic process	IEA
GO:0016075	Process	RRNA catabolic process	IBA
GO:0034473	Process	U1 snRNA 3'-end processing	IBA
GO:0034475	Process	U4 snRNA 3'-end processing	IBA
GO:0034476	Process	U5 snRNA 3'-end processing	IBA
GO:0035925	Function	MRNA 3'-UTR AU-rich region binding	IBA
GO:0035925	Function	MRNA 3'-UTR AU-rich region binding	IDA	16912217
GO:0042802	Function	Identical protein binding	IPI	15231747, 25416956, 32296183
GO:0071028	Process	Nuclear mRNA surveillance	IBA
GO:0071035	Process	Nuclear polyadenylation-dependent rRNA catabolic process	IBA
GO:0071038	Process	TRAMP-dependent tRNA surveillance pathway	IBA
GO:0101019	Component	Nucleolar exosome (RNase complex)	NAS	20531386
GO:1905354	Component	Exoribonuclease complex	IEA

Other IDs

• MIM: 606019
• HGNC: 17035
• e!Ensembl: 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:

  MAAGFKTVEPLEYYRRFLKENCRPDGRELGEFRTTTVNIGSISTADGSALVKLGNTTVIC
  GVKAEFAAPSTDAPDKGYVVPNVDLPPLCSSRFRSGPPGEEAQVASQFIADVIENSQIIQ
  KEDLCISPGKLVWVLYCDLICLDYDGNILDACTFALLAALKNVQLPEVTINEETALAEVN
  LKKKSYLNIRTHPVATSFAVFDDTLLIVDPTGEEEHLATGTLTIVMDEEGKLCCLHKPGG
  SGLTGAKLQDCMSRAVTRHKEVKKLMDEVIKSMKPK

• Sequence length: 276

Pathways

KEGG:

RNA degradation

Reactome:

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

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
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Pontocerebellar hypoplasia, type 1C	Pathogenic	rs606231285	RCV000144942	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spastic ataxia	Pathogenic	rs749829526	RCV001647191	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Cervical cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL PONTOCEREBELLAR HYPOPLASIA TYPE 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EXOSC8-related disorder	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PONTOCEREBELLAR HYPOPLASIA TYPE 1	—	CTD, Orphanet CTD, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Central nervous system demyelination	Central Nervous System Demyelination	BEFREE	27193168		★☆☆☆☆ Found in Text Mining only
Cerebral cortical atrophy	Cerebral cortical atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	31548613		★☆☆☆☆ Found in Text Mining only
Congenital pontocerebellar hypoplasia	Pontoneocerebellar hypoplasia	BEFREE	27193168		★☆☆☆☆ Found in Text Mining only
Contracture	Contracture	Pubtator	38017281	Associate	★☆☆☆☆ Found in Text Mining only
Esotropia	Esotropia	Pubtator	38017281	Associate	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nervous System Diseases	Nervous system disease	Pubtator	34573300	Associate	★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	24989451		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	29093021, 31768969		★☆☆☆☆ Found in Text Mining only
Nystagmus Pathologic	Nystagmus	Pubtator	38017281	Associate	★☆☆☆☆ Found in Text Mining only
Pontocerebellar Hypoplasia	Pontocerebellar hypoplasia	Pubtator	38017281	Associate	★☆☆☆☆ Found in Text Mining only
Pontocerebellar Hypoplasia Type 1	Pontoneocerebellar hypoplasia	ORPHANET_DG	24989451		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pontocerebellar hypoplasia type 1	Pontoneocerebellar hypoplasia	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PONTOCEREBELLAR HYPOPLASIA, TYPE 1B	Pontoneocerebellar hypoplasia	BEFREE	29093021, 31768969		★☆☆☆☆ Found in Text Mining only
PONTOCEREBELLAR HYPOPLASIA, TYPE 1C	Pontoneocerebellar hypoplasia	BEFREE	24989451		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PONTOCEREBELLAR HYPOPLASIA, TYPE 1C	Pontoneocerebellar hypoplasia	GENOMICS_ENGLAND_DG	24989451, 29656927		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PONTOCEREBELLAR HYPOPLASIA, TYPE 1C	Pontoneocerebellar hypoplasia	UNIPROT_DG	24989451		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PONTOCEREBELLAR HYPOPLASIA, TYPE 1C	Pontoneocerebellar hypoplasia	CTD_human_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PONTOCEREBELLAR HYPOPLASIA, TYPE 1C	Pontoneocerebellar hypoplasia	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pontoneocerebellar hypoplasia	Pontoneocerebellar hypoplasia	BEFREE	27193168		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	28403887	Associate	★☆☆☆☆ Found in Text Mining only
Respiratory Failure	Respiratory Failure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spastic tetraparesis	Spastic tetraparesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spinal Muscular Atrophy	Spinal Muscular Atrophy	BEFREE	29656927		★☆☆☆☆ Found in Text Mining only
Spinal Muscular Atrophy	Spinal Muscular Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only