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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
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

Show/Hide all (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
rs1201265438	G>C,T	Likely-pathogenic	Splice acceptor variant, intron variant, genic downstream transcript variant
rs1489037110	G>A	Pathogenic	Genic downstream transcript variant, intron variant
rs1553551874	GC>-	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant, intron variant, non coding transcript variant
rs1553610371	CT>-	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant, intron variant, non coding transcript variant
rs1574980061	AGCATAGCAG>-	Pathogenic	Frameshift variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs1574980125	AGCAGTTA>G	Pathogenic	Frameshift variant, intron variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant

Show/Hide all (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
MIRT735272	hsa-miR-222-3p	Western blottingNorthern blottingImmunoprecipitaion (IP)RNA-seqqRT-PCR	32488030
MIRT735273	hsa-miR-769-3p	Western blottingNorthern blottingImmunoprecipitaion (IP)RNA-seq	32488030
MIRT937175	hsa-miR-3672	CLIP-seq
MIRT937176	hsa-miR-3925-3p	CLIP-seq
MIRT937177	hsa-miR-4269	CLIP-seq
MIRT937178	hsa-miR-4514	CLIP-seq
MIRT937179	hsa-miR-4692	CLIP-seq
MIRT937180	hsa-miR-4712-5p	CLIP-seq
MIRT937181	hsa-miR-4742-5p	CLIP-seq
MIRT937182	hsa-miR-508-5p	CLIP-seq
MIRT937183	hsa-miR-770-5p	CLIP-seq
MIRT1977444	hsa-miR-4267	CLIP-seq
MIRT1977445	hsa-miR-4427	CLIP-seq
MIRT937178	hsa-miR-4514	CLIP-seq
MIRT1977446	hsa-miR-4645-5p	CLIP-seq
MIRT1977447	hsa-miR-4673	CLIP-seq
MIRT1977448	hsa-miR-4680-3p	CLIP-seq
MIRT937179	hsa-miR-4692	CLIP-seq
MIRT1977449	hsa-miR-4727-5p	CLIP-seq
MIRT1977450	hsa-miR-4755-3p	CLIP-seq
MIRT1977451	hsa-miR-4769-3p	CLIP-seq
MIRT1977452	hsa-miR-4778-5p	CLIP-seq
MIRT2212754	hsa-miR-1285	CLIP-seq
MIRT2212755	hsa-miR-1296	CLIP-seq
MIRT2212756	hsa-miR-1343	CLIP-seq
MIRT2212757	hsa-miR-2467-3p	CLIP-seq
MIRT2212758	hsa-miR-3074-5p	CLIP-seq
MIRT2212759	hsa-miR-3187-5p	CLIP-seq
MIRT2212760	hsa-miR-3616-3p	CLIP-seq
MIRT2212761	hsa-miR-4436b-3p	CLIP-seq
MIRT2212762	hsa-miR-4512	CLIP-seq
MIRT2212763	hsa-miR-4779	CLIP-seq
MIRT2212764	hsa-miR-612	CLIP-seq
MIRT2448273	hsa-miR-3197	CLIP-seq

Show/Hide all (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
GO:0000287	Function	Magnesium ion binding	IEA
GO:0000932	Component	P-body	IBA
GO:0000932	Component	P-body	IDA	23756462
GO:0000932	Component	P-body	IEA
GO:0000956	Process	Nuclear-transcribed mRNA catabolic process	IEA
GO:0000956	Process	Nuclear-transcribed mRNA catabolic process	IMP	23756462
GO:0003723	Function	RNA binding	IEA
GO:0004518	Function	Nuclease activity	IEA
GO:0004527	Function	Exonuclease activity	IEA
GO:0004540	Function	RNA nuclease activity	IDA	22306653
GO:0004540	Function	RNA nuclease activity	IEA
GO:0005515	Function	Protein binding	IPI	23756462
GO:0005737	Component	Cytoplasm	IDA	22306653, 23756462, 24141620
GO:0005737	Component	Cytoplasm	IEA
GO:0006402	Process	MRNA catabolic process	IBA
GO:0008266	Function	Poly(U) RNA binding	IDA	24141620
GO:0008266	Function	Poly(U) RNA binding	IEA
GO:0008285	Process	Negative regulation of cell population proliferation	IMP	22306653
GO:0010587	Process	MiRNA catabolic process	IBA
GO:0010587	Process	MiRNA catabolic process	IDA	24141620
GO:0010587	Process	MiRNA catabolic process	IEA
GO:0010587	Process	MiRNA catabolic process	ISS
GO:0016787	Function	Hydrolase activity	IEA
GO:0019827	Process	Stem cell population maintenance	IEA
GO:0019827	Process	Stem cell population maintenance	ISS
GO:0046872	Function	Metal ion binding	IEA
GO:0051301	Process	Cell division	IEA
GO:0051306	Process	Mitotic sister chromatid separation	IMP	22306653
GO:1990074	Process	Polyuridylation-dependent mRNA catabolic process	IEA
GO:1990074	Process	Polyuridylation-dependent mRNA catabolic process	ISS

MIM	HGNC	e!Ensembl
614184	28648	ENSG00000144535

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
WKVVKPESNDKETEAAYESDIPEELCGHHLPQQSLKSYNDSPDVIVEAQFDGSDSEDGHG
ITQNVLVDGVKKLSVCVSEKGREDGDAPVTKDETTCISQDTRALSEKSLQRSAKVVYILE
KKHSRAATGFLKLLADKNSELFRKYALFSPSDHRVPRIYVPLKDCPQDFVARPKDYANTL
FICRIVDWKEDCNFALGQLAKSLGQAGEIEPETEGILTEYGVDFSDFSSEVLECLPQGLP
WTIPPEEFSKRRDLRKDCIFTIDPSTARDLDDALSCKPLADGNFKVGVHIADVSYFVPEG
SDLDKVAAERATSVYLVQKVVPMLPRLLCEELCSLNPMSDKLTFSVIWTLTPEGKILDEW
FGRTIIRSCTKLSYEHAQSMIESPTEKIPAKELPPISPEHSSEEVHQAVLNLHGIAKQLR
QQRFVDGALRLDQLKLAFTLDHETGLPQGCHIYEYRESNKLVEEFMLLANMAVAHKIHRA
FPEQALLRRHPPPQTRMLSDLVEFCDQMGLPVDFSSAGALNKSLTQTFGDDKYSLARKEV
LTNMCSRPMQMALYFCSGLLQDPAQFRHYALNVPLYTHFTSPIRRFADVLVHRLLAAALG
YRERLDMAPDTLQKQADHCNDRRMASKRVQELSTSLFFAVLVKESGPLESEAMVMGILKQ
AFDVLVLRYGVQKRIYCNALALRSHHFQKVGKKPELTLVWEPEDMEQEPAQQVITIFSLV
EVVLQAESTALKYSAILKRPGTQGHLGPEKEEEESDGEPEDSSTS

Sequence length

885

Interactions

View interactions

2280

Show/Hide Causal Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
DIS3L2-related disorder	Likely pathogenic; Pathogenic	rs1266710900, rs1695875453, rs199648534, rs1328362747	RCV004750777 RCV003391455 RCV004751671 RCV003398929
Familial cancer of breast	Likely pathogenic	rs747497458	RCV005925532
Nephroblastoma	Likely pathogenic	rs1553551874	RCV000505630
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 RCV001381907 RCV001390588 RCV001381785 RCV001808227 RCV001997310 RCV002015157 RCV001934543 RCV001938410 RCV002012916 RCV001963055 RCV001917240 RCV001926888 RCV001994821 RCV001915011 RCV001962888 RCV002013911 RCV002027751 RCV001960523 RCV002019395 RCV001972591 RCV001912047 RCV002003463 RCV002204552 RCV003077494 RCV002846855 RCV002835065 RCV002847799 RCV002875513 RCV002847622 RCV002893837 RCV003000031 RCV002999828 RCV003007594 RCV000232872 RCV003330269 RCV003466187 RCV003466188 RCV003466189 RCV003459970 RCV003475584 RCV003466190 RCV003466191 RCV003528603 RCV003528596 RCV003529253 RCV003529254 RCV003529461 RCV003529647 RCV003529630 RCV003527714 RCV003643898 RCV003644087 RCV003644118 RCV003644257 RCV003644323 RCV003643460 RCV004575821 RCV004575822 RCV004575823 RCV000461422 RCV000559063 RCV000705784 RCV000808481 RCV000797187 RCV000809139 RCV001060774 RCV001047708 RCV001047046 RCV001047170 RCV001067310 RCV001053079 RCV001037679 RCV001052084 RCV001221233 RCV001214904 RCV001222361 RCV001204375 RCV001208905 RCV001225358 RCV001229869 RCV001237445 RCV001246580 RCV001242307 RCV001241731

Show/Hide Unknown Diseases (21)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign	rs1814893, rs113002914	RCV005917347 RCV005896147
Cervical cancer	Benign; Conflicting classifications of pathogenicity	rs113002914, rs114804860	RCV005896150 RCV005896145
Cholangiocarcinoma	Benign	rs1814893	RCV005917355
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Benign	rs1814893, rs113002914	RCV005917357 RCV005896155
Colon adenocarcinoma	Benign	rs75061164	RCV005918211
Familial pancreatic carcinoma	Benign	rs1814893, rs113002914	RCV005917350 RCV005896152
Germ cell tumor of testis	Benign	rs1814893	RCV005917356
Hepatoblastoma	Uncertain significance	rs371430235	RCV001843898
Lung cancer	Benign	rs75061164	RCV005918213
Lymphoma	Benign	rs1814893	RCV005917351
Malignant tumor of esophagus	Benign	rs113002914	RCV005896148
Neurodevelopmental disorder	Uncertain significance	rs2106252250	RCV002277679
Nonpapillary renal cell carcinoma	Benign	rs1814893, rs113002914	RCV005917348 RCV005896149
Ovarian cancer	Benign	rs1814893, rs113002914	RCV005917349 RCV005896151
Ovarian serous cystadenocarcinoma	Benign; Likely benign	rs1814893, rs746549250	RCV005917352 RCV005925885
Sarcoma	Benign; Conflicting classifications of pathogenicity	rs75061164, rs113002914, rs114804860	RCV005918212 RCV005896153 RCV005896146
Squamous cell carcinoma of the head and neck	Likely benign	rs374299868	RCV005901666
Thymoma	Benign	rs1814893	RCV005917354
Thyroid cancer, nonmedullary, 1	Benign	rs113002914	RCV005896154
Uterine carcinosarcoma	Benign	rs1814893	RCV005917353
Uterine corpus endometrial carcinoma	Benign; Uncertain significance	rs75061164, rs374886454	RCV005918214 RCV005902051

Show/Hide Text Mining Associations (10)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Beckwith Wiedemann Syndrome	Associate	23169491, 35230882
Carcinoma Hepatocellular	Associate	26080928
Colorectal Neoplasms	Associate	37340282
Cutis marmorata telangiectatica congenita	Associate	35700413
Diabetic Nephropathies	Associate	36444934
Growth Disorders	Associate	23805197
Neoplasms	Associate	26080928, 35230882, 37340282
Nephroblastomatosis fetal ascites macrosomia and Wilms tumor	Associate	23486540, 27431325, 33719213
Simpson Golabi Behmel syndrome	Associate	23169491
Wilms Tumor	Associate	35230882, 35700413, 40340749

DIS3L2 (DIS3 like 3'-5' exoribonuclease 2)