Gene Gene information from NCBI Gene database.
Entrez ID 22894
Gene name DIS3 exosome endoribonuclease and 3''-5'' exoribonuclease
Gene symbol DIS3
Synonyms (NCBI Gene)
2810028N01RikEXOSC11KIAA1008RRP44dis3p
Chromosome 13
Chromosome location 13q21.33
SNPs SNP information provided by dbSNP.
1
SNP ID Visualize variation Clinical significance Consequence
rs1593835248 T>A Likely-pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
402
miRTarBase ID miRNA Experiments Reference
MIRT022253 hsa-miR-124-3p Proteomics;Microarray 18668037
MIRT028852 hsa-miR-26b-5p Microarray 19088304
MIRT047998 hsa-miR-30c-5p CLASH 23622248
MIRT704221 hsa-miR-802 HITS-CLIP 23313552
MIRT645150 hsa-miR-1245a HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
43
GO ID Ontology Definition Evidence Reference
GO:0000175 Function 3'-5'-RNA exonuclease activity IBA
GO:0000175 Function 3'-5'-RNA exonuclease activity IEA
GO:0000175 Function 3'-5'-RNA exonuclease activity IMP 20531386
GO:0000175 Function 3'-5'-RNA exonuclease activity TAS
GO:0000176 Component Nuclear exosome (RNase complex) IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
607533 20604 ENSG00000083520
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9Y2L1
Protein name Exosome complex exonuclease RRP44 (EC 3.1.13.-) (EC 3.1.26.-) (Protein DIS3 homolog) (Ribosomal RNA-processing protein 44)
Protein function Putative 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 ma
PDB 6D6Q , 6D6R , 6H25
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13638 PIN_4 66 195 PIN domain Domain
PF17216 Rrp44_CSD1 225 351 Rrp44-like cold shock domain Domain
PF17849 OB_Dis3 370 438 Dis3-like cold-shock domain 2 (CSD2) Domain
PF00773 RNB 467 797 RNB domain Domain
PF17215 Rrp44_S1 846 925 S1 domain Domain
Tissue specificity TISSUE SPECIFICITY: Widely expressed.
Sequence
MLKSKTFLKKTRAGGVMKIVREHYLRDDIGCGAPGCAACGGAHEGPALEPQPQDPASSVC
PQPHYLLPDTNVLLHQIDVLEDPAIRNVIVLQTVLQEVRNRSAPVYKRIRDVTNNQEKHF
YTFTNEHHRETYVEQEQGENANDRNDRAIRVAAKWYNEHLKKMSADNQLQVIFITNDRRN
KEKAIEEGIPAFTCE
EYVKSLTANPELIDRLACLSEEGNEIESGKIIFSEHLPLSKLQQG
IKSGTYLQGTFRASRENYLEATVWIHGDNEENKEIILQGLKHLNRAVHEDIVAVELLPKS
QWVAPSSVVLHDEGQNEEDVEKEEETERMLKTAVSEKMLKPTGRVVGIIKR
NWRPYCGML
SKSDIKESRRHLFTPADKRIPRIRIETRQASTLEGRRIIVAIDGWPRNSRYPNGHFVRNL
GDVGEKETETEVLLLEHD
VPHQPFSQAVLSFLPKMPWSITEKDMKNREDLRHLCICSVDP
PGCTDIDDALHCRELENGNLEVGVHIADVSHFIRPGNALDQESARRGTTVYLCEKRIDMV
PELLSSNLCSLKCDVDRLAFSCIWEMNHNAEILKTKFTKSVINSKASLTYAEAQLRIDSA
NMNDDITTSLRGLNKLAKILKKRRIEKGALTLSSPEVRFHMDSETHDPIDLQTKELRETN
SMVEEFMLLANISVAKKIHEEFSEHALLRKHPAPPPSNYEILVKAARSRNLEIKTDTAKS
LAESLDQAESPTFPYLNTLLRILATRCMMQAVYFCSGMDNDFHHYGLASPIYTHFTSPIR
RYADVIVHRLLAVAIGA
DCTYPELTDKHKLADICKNLNFRHKMAQYAQRASVAFHTQLFF
KSKGIVSEEAYILFVRKNAIVVLIPKYGLEGTVFFEEKDKPNPQLIYDDEIPSLKIEDTV
FHVFDKVKVKIMLDSSNLQHQKIRM
SLVEPQIPGISIPTDTSNMDLNGPKKKKMKLGK
Sequence length 958
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 associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
6
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 Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Multiple myeloma Likely pathogenic rs1593835248 RCV000984121
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
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.
Phenotype Name Clinical Significance Source Evidence Score
DIS3-related disorder Benign; Conflicting classifications of pathogenicity; Uncertain significance; Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
EBV-positive nodal T- and NK-cell lymphoma Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Perlman syndrome Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenoma Adenoma BEFREE 24478024
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 39408874 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Carcinoma BEFREE 24478024
★☆☆☆☆
Found in Text Mining only
Carcinoma Ovarian Epithelial Epithelial ovarian carcinoma Pubtator 23551967 Associate
★☆☆☆☆
Found in Text Mining only
Colorectal Carcinoma Colorectal Cancer BEFREE 24478024
★☆☆☆☆
Found in Text Mining only
Congenital chromosomal disease Congenital Chromosomal Disease BEFREE 30257227
★☆☆☆☆
Found in Text Mining only
Leukemia Myeloid Acute Myeloid leukemia Pubtator 34343137 Associate
★☆☆☆☆
Found in Text Mining only
Malignant Neoplasms Malignant Neoplasm BEFREE 26193331, 29802118
★☆☆☆☆
Found in Text Mining only
Melanoma Melanoma Pubtator 21343389 Associate
★☆☆☆☆
Found in Text Mining only
Multiple Myeloma Multiple myeloma BEFREE 24434212, 25521164, 26193331, 26305418, 29802118, 31768969
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)