Gene Gene information from NCBI Gene database.
Entrez ID 129563
Gene name DIS3 like 3'-5' exoribonuclease 2
Gene symbol DIS3L2
Synonyms (NCBI Gene)
FAM6APRLMNShDIS3L2
Chromosome 2
Chromosome location 2q37.1
Summary The protein encoded by this gene is similar in sequence to 3`/5` exonucleolytic subunits of the RNA exosome. The exosome is a large multimeric ribonucleotide complex responsible for degrading various RNA substrates. Several transcript variants, some prote
SNPs SNP information provided by dbSNP.
11
SNP ID Visualize variation Clinical significance Consequence
rs199648534 C>T Pathogenic Non coding transcript variant, intron variant, stop gained, coding sequence variant, genic downstream transcript variant
rs201733073 A>G Uncertain-significance, conflicting-interpretations-of-pathogenicity Coding sequence variant, non coding transcript variant, missense variant
rs387907116 G>A Pathogenic Missense variant, coding sequence variant, non coding transcript variant, genic downstream transcript variant
rs878855224 T>- Pathogenic Coding sequence variant, intron variant, frameshift variant, non coding transcript variant, genic downstream transcript variant
rs1060503037 G>C Likely-pathogenic Splice acceptor variant, genic downstream transcript variant, intron variant
miRNA miRNA information provided by mirtarbase database.
39
miRTarBase ID miRNA Experiments Reference
MIRT438540 hsa-let-7a-5p Northern blot 24141620
MIRT438540 hsa-let-7a-5p Northern blot 24141620
MIRT440813 hsa-miR-218-5p HITS-CLIP 23212916
MIRT440813 hsa-miR-218-5p HITS-CLIP 23212916
MIRT735271 hsa-miR-7-5p Western blottingNorthern blottingImmunoprecipitaion (IP)RNA-seq 32488030
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
35
GO ID Ontology Definition Evidence Reference
GO:0000175 Function 3'-5'-RNA exonuclease activity IBA
GO:0000175 Function 3'-5'-RNA exonuclease activity IDA 23756462, 24141620
GO:0000175 Function 3'-5'-RNA exonuclease activity IEA
GO:0000278 Process Mitotic cell cycle IMP 22306653
GO:0000287 Function Magnesium ion binding IDA 24141620
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
614184 28648 ENSG00000144535
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8IYB7
Protein name DIS3-like exonuclease 2 (hDIS3L2) (EC 3.1.13.-)
Protein function 3'-5'-exoribonuclease that specifically recognizes RNAs polyuridylated at their 3' end and mediates their degradation. Component of an exosome-independent RNA degradation pathway that mediates degradation of both mRNAs and miRNAs that have been
PDB 8E27 , 8E28 , 8E29 , 8E2A
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF17216 Rrp44_CSD1 47 148 Rrp44-like cold shock domain Domain
PF17849 OB_Dis3 265 341 Dis3-like cold-shock domain 2 (CSD2) Domain
PF00773 RNB 371 721 RNB domain Domain
PF17877 Dis3l2_C_term 766 855 DIS3-like exonuclease 2 C terminal Domain
Sequence
MSHPDYRMNLRPLGTPRGVSAVAGPHDIGASPGDKKSKNRSTRGKKKSIFETYMSKEDVS
EGLKRGTLIQGVLRINPKKFHEAFIPSPDGDRDIFIDGVVARNRALNGDLVVVKLLPEEH
WKVVKPESNDKETEAAYESDIPEELCGH
HLPQQSLKSYNDSPDVIVEAQFDGSDSEDGHG
ITQNVLVDGVKKLSVCVSEKGREDGDAPVTKDETTCISQDTRALSEKSLQRSAKVVYILE
KKHSRAATGFLKLLADKNSELFRKYALFSPSDHRVPRIYVPLKDCPQDFVARPKDYANTL
FICRIVDWKEDCNFALGQLAKSLGQAGEIEPETEGILTEYG
VDFSDFSSEVLECLPQGLP
WTIPPEEFSKRRDLRKDCIFTIDPSTARDLDDALSCKPLADGNFKVGVHIADVSYFVPEG
SDLDKVAAERATSVYLVQKVVPMLPRLLCEELCSLNPMSDKLTFSVIWTLTPEGKILDEW
FGRTIIRSCTKLSYEHAQSMIESPTEKIPAKELPPISPEHSSEEVHQAVLNLHGIAKQLR
QQRFVDGALRLDQLKLAFTLDHETGLPQGCHIYEYRESNKLVEEFMLLANMAVAHKIHRA
FPEQALLRRHPPPQTRMLSDLVEFCDQMGLPVDFSSAGALNKSLTQTFGDDKYSLARKEV
LTNMCSRPMQMALYFCSGLLQDPAQFRHYALNVPLYTHFTSPIRRFADVLVHRLLAAALG
Y
RERLDMAPDTLQKQADHCNDRRMASKRVQELSTSLFFAVLVKESGPLESEAMVMGILKQ
AFDVLVLRYGVQKRIYCNALALRSHHFQKVGKKPELTLVWEPEDMEQEPAQQVITIFSLV
EVVLQAESTALKYSA
ILKRPGTQGHLGPEKEEEESDGEPEDSSTS
Sequence length 885
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
31
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
DIS3L2-related disorder Likely pathogenic; Pathogenic rs1266710900, rs1695875453, rs199648534, rs1328362747 RCV004750777
RCV003391455
RCV004751671
RCV003398929
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial cancer of breast Likely pathogenic rs747497458 RCV005925532
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nephroblastoma Likely pathogenic rs1553551874 RCV000505630
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Perlman syndrome Likely pathogenic; Pathogenic rs2106350184, rs2106348255, rs762653147, rs2106232915, rs747734015, rs1209057640, rs2106281153, rs2106348160, rs2106221493, rs2106264887, rs747497458, rs2106220804, rs2106353572, rs2106354681, rs2106239900
View all (69 more)
RCV001379566
RCV001379082
RCV001384568
RCV001390065
RCV001382451
View all (84 more)
★★★★★
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
Acute myeloid leukemia Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANDROGENETIC ALOPECIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cervical cancer Benign; Conflicting classifications of pathogenicity ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma Benign ClinVar
★★☆☆☆
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
Agenesis of corpus callosum Agenesis Of Corpus Callosum HPO_DG
★☆☆☆☆
Found in Text Mining only
Anaplastic thyroid carcinoma Anaplastic thyroid cancer BEFREE 31368081
★☆☆☆☆
Found in Text Mining only
Aniridia Aniridia HPO_DG
★☆☆☆☆
Found in Text Mining only
Blepharoptosis Ptosis HPO_DG
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 26080928 Associate
★☆☆☆☆
Found in Text Mining only
Cardiovascular Abnormalities Cardiovascular Abnormalities HPO_DG
★☆☆☆☆
Found in Text Mining only
Colorectal Carcinoma Colorectal Cancer BEFREE 28496335
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 37340282 Associate
★☆☆☆☆
Found in Text Mining only
Congenital chromosomal disease Congenital Chromosomal Disease BEFREE 30344923
★☆☆☆☆
Found in Text Mining only
Congenital diaphragmatic hernia Congenital diaphragmatic hernia HPO_DG
★☆☆☆☆
Found in Text Mining only