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

Gene Gene information from NCBI Gene database. Gene Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	54512
Gene name	Exosome component 4
Gene symbol	EXOSC4
Synonyms (NCBI Gene)	RRP41RRP41ARrp41pSKI6Ski6phRrp41pp12A
Chromosome	8
Chromosome location	8q24.3

Show/Hide all (47)

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:0000460	Process	Maturation of 5.8S rRNA	IMP	20368444
GO:0000791	Component	Euchromatin	IMP	20699273
GO:0000956	Process	Nuclear-transcribed mRNA catabolic process	IMP	17545563
GO:0003723	Function	RNA binding	IBA
GO:0003723	Function	RNA binding	IEA
GO:0004532	Function	RNA exonuclease activity	IDA	17174896
GO:0005515	Function	Protein binding	IPI	11719186, 12419256, 12788944, 15231747, 17545563, 20531386, 20531389, 21255825, 21791617, 24981860, 25043052, 25416956, 26496610, 28514442, 30021884, 32296183, 33961781
GO:0005634	Component	Nucleus	IDA	17545563, 20531386
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	IEA
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	IDA	17545563
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:0016075	Process	RRNA catabolic process	IBA
GO:0030307	Process	Positive regulation of cell growth	IMP	17545563
GO:0034475	Process	U4 snRNA 3'-end processing	IBA
GO:0035925	Function	MRNA 3'-UTR AU-rich region binding	IDA	16912217
GO:0045006	Process	DNA deamination	IDA	21255825
GO:0051607	Process	Defense response to virus	IMP	21791617
GO:0071028	Process	Nuclear mRNA surveillance	IBA
GO:0071028	Process	Nuclear mRNA surveillance	IMP	17545563
GO:0071044	Process	Histone mRNA catabolic process	IMP	18172165
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
606491	18189	ENSG00000178896

Q9NPD3

Protein name

Exosome complex component RRP41 (Exosome component 4) (Ribosomal RNA-processing protein 41) (p12A)

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	21 → 152		Domain
PF03725	RNase_PH_C	155 → 220		Domain

Sequence

MAGLELLSDQGYRVDGRRAGELRKIQARMGVFAQADGSAYIEQGNTKALAVVYGPHEIRG
SRARALPDRALVNCQYSSATFSTGERKRRPHGDRKSCEMGLQLRQTFEAAILTQLHPRSQ
IDIYVQVLQADGGTYAACVNAATLAVLDAGIPMRDFVCACSAGFVDGTALADLSHVEEAA
GGPQLALALLPASGQIALLEMDARLHEDHLERVLEAAAQAARDVHTLLDRVVRQHVREAS
ILLGD

Sequence length

245

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 Unknown Diseases (2)

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.
COMPLEX NEURODEVELOPMENTAL DISORDER	—	GenCC	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (8)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Colorectal Carcinoma	Colorectal Cancer	BEFREE	30155936		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	17213274	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	17213274	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	29626590		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperandrogenism	Hyperandrogenism	Pubtator	11591408	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	11591408, 17213274	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	25871514		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	35008922	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

EXOSC4 (exosome component 4)