Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	56915
Gene name	Exosome component 5
Gene symbol	EXOSC5
Synonyms (NCBI Gene)	CABACRRP41BRRP46Rrp46phRrp46pp12B
Chromosome	19
Chromosome location	19q13.2

Show/Hide all (86)

miRTarBase ID	miRNA	Experiments	Reference
MIRT049878	hsa-miR-31-5p	CLASH	23622248
MIRT973220	hsa-miR-1233	CLIP-seq
MIRT973221	hsa-miR-1273g	CLIP-seq
MIRT973222	hsa-miR-146b-3p	CLIP-seq
MIRT973223	hsa-miR-1972	CLIP-seq
MIRT973224	hsa-miR-3922-5p	CLIP-seq
MIRT973225	hsa-miR-409-5p	CLIP-seq
MIRT973226	hsa-miR-4286	CLIP-seq
MIRT973227	hsa-miR-4488	CLIP-seq
MIRT973228	hsa-miR-4675	CLIP-seq
MIRT973229	hsa-miR-4697-5p	CLIP-seq
MIRT973230	hsa-miR-4741	CLIP-seq
MIRT973231	hsa-miR-513a-5p	CLIP-seq
MIRT1988364	hsa-miR-3121-5p	CLIP-seq
MIRT1988365	hsa-miR-3670	CLIP-seq
MIRT1988366	hsa-miR-4448	CLIP-seq
MIRT1988367	hsa-miR-587	CLIP-seq
MIRT2222824	hsa-miR-4775	CLIP-seq
MIRT2526529	hsa-miR-1205	CLIP-seq
MIRT973220	hsa-miR-1233	CLIP-seq
MIRT973221	hsa-miR-1273g	CLIP-seq
MIRT2526530	hsa-miR-1293	CLIP-seq
MIRT2526531	hsa-miR-138	CLIP-seq
MIRT973222	hsa-miR-146b-3p	CLIP-seq
MIRT2526532	hsa-miR-1587	CLIP-seq
MIRT973223	hsa-miR-1972	CLIP-seq
MIRT2526533	hsa-miR-3155	CLIP-seq
MIRT2526534	hsa-miR-3155b	CLIP-seq
MIRT2526535	hsa-miR-3612	CLIP-seq
MIRT2526536	hsa-miR-378g	CLIP-seq
MIRT2526537	hsa-miR-3919	CLIP-seq
MIRT973224	hsa-miR-3922-5p	CLIP-seq
MIRT2526538	hsa-miR-3977	CLIP-seq
MIRT973225	hsa-miR-409-5p	CLIP-seq
MIRT2526539	hsa-miR-4278	CLIP-seq
MIRT973226	hsa-miR-4286	CLIP-seq
MIRT2526540	hsa-miR-4443	CLIP-seq
MIRT2526541	hsa-miR-4481	CLIP-seq
MIRT2526542	hsa-miR-4483	CLIP-seq
MIRT2526543	hsa-miR-4492	CLIP-seq
MIRT2526544	hsa-miR-4498	CLIP-seq
MIRT2526545	hsa-miR-4505	CLIP-seq
MIRT2526546	hsa-miR-4641	CLIP-seq
MIRT2526547	hsa-miR-4656	CLIP-seq
MIRT973228	hsa-miR-4675	CLIP-seq
MIRT2526548	hsa-miR-4708-3p	CLIP-seq
MIRT2526549	hsa-miR-4716-3p	CLIP-seq
MIRT973230	hsa-miR-4741	CLIP-seq
MIRT2526550	hsa-miR-4745-5p	CLIP-seq
MIRT2526551	hsa-miR-4756-3p	CLIP-seq
MIRT2526552	hsa-miR-4758-5p	CLIP-seq
MIRT2526553	hsa-miR-4797-5p	CLIP-seq
MIRT2526554	hsa-miR-484	CLIP-seq
MIRT973231	hsa-miR-513a-5p	CLIP-seq
MIRT2526555	hsa-miR-558	CLIP-seq
MIRT2526556	hsa-miR-650	CLIP-seq
MIRT2526557	hsa-miR-762	CLIP-seq
MIRT2526529	hsa-miR-1205	CLIP-seq
MIRT973220	hsa-miR-1233	CLIP-seq
MIRT973221	hsa-miR-1273g	CLIP-seq
MIRT2526531	hsa-miR-138	CLIP-seq
MIRT973222	hsa-miR-146b-3p	CLIP-seq
MIRT2526532	hsa-miR-1587	CLIP-seq
MIRT973223	hsa-miR-1972	CLIP-seq
MIRT2526533	hsa-miR-3155	CLIP-seq
MIRT2526534	hsa-miR-3155b	CLIP-seq
MIRT2526536	hsa-miR-378g	CLIP-seq
MIRT2526537	hsa-miR-3919	CLIP-seq
MIRT973224	hsa-miR-3922-5p	CLIP-seq
MIRT2526538	hsa-miR-3977	CLIP-seq
MIRT973225	hsa-miR-409-5p	CLIP-seq
MIRT973226	hsa-miR-4286	CLIP-seq
MIRT2526543	hsa-miR-4492	CLIP-seq
MIRT2526544	hsa-miR-4498	CLIP-seq
MIRT2526545	hsa-miR-4505	CLIP-seq
MIRT2526546	hsa-miR-4641	CLIP-seq
MIRT2526547	hsa-miR-4656	CLIP-seq
MIRT973228	hsa-miR-4675	CLIP-seq
MIRT2526548	hsa-miR-4708-3p	CLIP-seq
MIRT973230	hsa-miR-4741	CLIP-seq
MIRT2526551	hsa-miR-4756-3p	CLIP-seq
MIRT2526553	hsa-miR-4797-5p	CLIP-seq
MIRT2526554	hsa-miR-484	CLIP-seq
MIRT973231	hsa-miR-513a-5p	CLIP-seq
MIRT2526555	hsa-miR-558	CLIP-seq
MIRT2526557	hsa-miR-762	CLIP-seq

Show/Hide all (41)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000175	Function	3'-5'-RNA exonuclease activity	NAS	11110791
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:0000791	Component	Euchromatin	IMP	20699273
GO:0003677	Function	DNA binding	IEA
GO:0003723	Function	RNA binding	IBA
GO:0004532	Function	RNA exonuclease activity	IDA	17174896
GO:0005515	Function	Protein binding	IPI	11812149, 12419256, 15231747, 17185417, 18334637, 19060904, 20531389, 21255825, 21876179, 22407013, 24981860, 25043052, 25416956, 26496610, 27107012, 28514442, 31515488, 32296183, 33961781, 39251607
GO:0005634	Component	Nucleus	IDA	20531386
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005730	Component	Nucleolus	IBA
GO:0005730	Component	Nucleolus	IDA	20531386
GO:0005730	Component	Nucleolus	IEA
GO:0005730	Component	Nucleolus	NAS	11110791
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	NAS	11110791
GO:0005829	Component	Cytosol	IDA	20531386
GO:0005829	Component	Cytosol	TAS
GO:0006364	Process	RRNA processing	IEA
GO:0006364	Process	RRNA processing	NAS	11110791
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:0006401	Process	RNA catabolic process	IEA
GO:0006402	Process	MRNA catabolic process	IMP	11782436
GO:0016075	Process	RRNA catabolic process	IBA
GO:0034475	Process	U4 snRNA 3'-end processing	IBA
GO:0045006	Process	DNA deamination	IDA	21255825
GO:0051607	Process	Defense response to virus	IMP	21791617
GO:0071028	Process	Nuclear mRNA surveillance	IBA
GO:0071051	Process	Poly(A)-dependent snoRNA 3'-end processing	IBA
GO:0101019	Component	Nucleolar exosome (RNase complex)	NAS	20531386
GO:1905354	Component	Exoribonuclease complex	IEA

MIM	HGNC	e!Ensembl
606492	24662	ENSG00000077348

Q9NQT4

Protein name

Exosome complex component RRP46 (Chronic myelogenous leukemia tumor antigen 28) (Exosome component 5) (Ribosomal RNA-processing protein 46) (p12B)

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	27 → 147		Domain
PF03725	RNase_PH_C	150 → 216		Domain

Tissue specificity

TISSUE SPECIFICITY: Highly expressed in a variety of hematopoietic and epithelial tumor cell lines, but not in normal hematopoietic tissues or other normal tissue, with the exception of testis.

Sequence

MEEETHTDAKIRAENGTGSSPRGPGCSLRHFACEQNLLSRPDGSASFLQGDTSVLAGVYG
PAEVKVSKEIFNKATLEVILRPKIGLPGVAEKSRERLIRNTCEAVVLGTLHPRTSITVVL
QVVSDAGSLLACCLNAACMALVDAGVPMRALFCGVACALDSDGTLVLDPTSKQEKEARAV
LTFALDSVERKLLMSSTKGLYSDTELQQCLAAAQAASQHVFRFYRESLQRRYSKS

Sequence length

235

Interactions

View interactions

	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

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)

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Cerebellar ataxia, brain abnormalities, and cardiac conduction defects	Likely pathogenic; Pathogenic	rs542429051, rs2123217925, rs2123230774, rs777418116	RCV001731247 RCV001731249 RCV001731250 RCV001731251	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (5)

Phenotype Name	Clinical Significance	Source	Evidence Score
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.
ATRIAL FIBRILLATION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DELAY, HYPOTONIA, CEREBELLAR ATAXIA, CARDIAC CONDUCTION DEFECTS SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DELAY-HYPOTONIA-CEREBELLAR ATAXIA-CARDIAC CONDUCTION DEFECTS SYNDROME	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STOMACH NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (25)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Arrhythmias Cardiac	Cardiac arrhythmias	Pubtator	34089229	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrioventricular Block	Atrioventricular block	Pubtator	34089229	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	36293016	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	33456353	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar Diseases	Cerebellar diseases	Pubtator	34089229	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Ischemic stroke	Pubtator	39290696	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	31380280		★★★★★ ★☆☆☆☆ Found in Text Mining only
Demyelinating Diseases	Demyelinating diseases	Pubtator	34089229	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	34089229	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	35601016	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	38164180	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Septal Defects Ventricular	Congenital heart septal defect	Pubtator	34089229	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hepatitis B	Hepatitis b	Pubtator	30567989	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary Diffuse Gastric Cancer	Gastric Cancer	CTD_human_DG	21364753		★★★★★ ★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	12359762, 15958636		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	15958636		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	CTD_human_DG	21364753		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of testis	Malignant Neoplasm Of Testis	BEFREE	16534571		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	16534571, 31380280		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	Pubtator	34089229	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	15958636, 16534571		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	12359762, 16534571		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sick Sinus Syndrome	Sick sinus syndrome	Pubtator	34089229	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach Neoplasms	CTD_human_DG	21364753		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Tachycardia Ventricular	Ventricular tachycardia	Pubtator	34089229	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

EXOSC5 (exosome component 5)