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Aliases for DIS3L2 Gene

Aliases for DIS3L2 Gene

  • DIS3 Like 3'-5' Exoribonuclease 2 2 3 5
  • Family With Sequence Similarity 6, Member A 2 3
  • DIS3-Like Exonuclease 2 3 4
  • HDIS3L2 3 4
  • FAM6A 3 4
  • DIS3 Mitotic Control Homolog (S. Cerevisiae)-Like 2 2
  • DIS3 Mitotic Control Homolog-Like 2 3
  • EC 3.1.13.- 4
  • EC 3.1.13 56
  • PRLMNS 3

External Ids for DIS3L2 Gene

Previous HGNC Symbols for DIS3L2 Gene

  • FAM6A

Previous GeneCards Identifiers for DIS3L2 Gene

  • GC02P232537
  • GC02P232825
  • GC02P224677

Summaries for DIS3L2 Gene

Entrez Gene Summary for DIS3L2 Gene

  • 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 protein-coding and some not, have been found for this gene. [provided by RefSeq, Mar 2012]

GeneCards Summary for DIS3L2 Gene

DIS3L2 (DIS3 Like 3'-5' Exoribonuclease 2) is a Protein Coding gene. Diseases associated with DIS3L2 include Perlman Syndrome and Wilms Tumor Predisposition. Gene Ontology (GO) annotations related to this gene include magnesium ion binding and 3'-5'-exoribonuclease activity. An important paralog of this gene is DIS3L.

UniProtKB/Swiss-Prot for DIS3L2 Gene

  • 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 polyuridylated by a terminal uridylyltransferase, such as ZCCHC11/TUT4. Mediates degradation of cytoplasmic mRNAs that have been deadenylated and subsequently uridylated at their 3'. Mediates degradation of uridylated pre-let-7 miRNAs, contributing to the maintenance of embryonic stem (ES) cells. Essential for correct mitosis, and negatively regulates cell proliferation.

Additional gene information for DIS3L2 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DIS3L2 Gene

Genomics for DIS3L2 Gene

GeneHancer (GH) Regulatory Elements for DIS3L2 Gene

Promoters and enhancers for DIS3L2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02J231960 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 600.7 +0.7 656 2.6 MTA3 ZFX MNT NKRF POLR2A MLLT1 GTF2F1 ZNF384 ZNF687 ZSCAN21 DIS3L2 ENSG00000227033
GH02J231965 Promoter/Enhancer 1.1 EPDnew Ensembl 600.7 +4.9 4856 3 SP7 ZNF384 RFX1 SOX13 RFX3 BMI1 ZNF205 FOXA2 NFIL3 FEZF1 DIS3L2 NPPC ECEL1P2 ENSG00000227033
GH02J231785 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 79.7 -174.4 -174372 2.7 SP1 ZFX CTCF ELF3 MNT SIX5 ZNF148 NKRF CEBPG RERE COPS7B PDE6D DIS3L2 RPL28P2 GIGYF2 NCL ENSG00000251485 ENSG00000261096 TIGD1 ARMC9
GH02J231705 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 51.6 -252.2 -252190 7.7 MTA3 ZNF652 ZFX SP1 ELF3 CTCF MNT SIX5 ZNF148 NKRF GC02M231705 PTMA DIS3L2 GIGYF2 RPL28P2 COPS7B ENSG00000251485 ENSG00000224376 RNU2-22P ENSG00000277986
GH02J231462 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 34.4 -496.8 -496789 3.9 SP1 ZFX ELF3 MNT ZNF148 NKRF POLR2A MLLT1 CEBPG RERE NCL DIS3L2 RPL28P2 ENSG00000251485 COPS7B ENSG00000235419 NMUR1 RNU2-22P ENSG00000224376 LINC00471
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DIS3L2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the DIS3L2 gene promoter:
  • AML1a
  • AP-4
  • c-Myb
  • FOXO1
  • FOXO1a
  • HSF1 (long)
  • STAT1
  • STAT1alpha
  • STAT1beta
  • YY1

Genomic Locations for DIS3L2 Gene

Genomic Locations for DIS3L2 Gene
chr2:231,961,245-232,344,350
(GRCh38/hg38)
Size:
383,106 bases
Orientation:
Plus strand
chr2:232,825,955-233,209,060
(GRCh37/hg19)
Size:
383,106 bases
Orientation:
Plus strand

Genomic View for DIS3L2 Gene

Genes around DIS3L2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DIS3L2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DIS3L2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DIS3L2 Gene

Proteins for DIS3L2 Gene

  • Protein details for DIS3L2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8IYB7-DI3L2_HUMAN
    Recommended name:
    DIS3-like exonuclease 2
    Protein Accession:
    Q8IYB7
    Secondary Accessions:
    • Q53S79
    • Q580W6
    • Q5XKH0
    • Q69YG5
    • Q6AW99
    • Q7Z4T6
    • Q8N9K9

    Protein attributes for DIS3L2 Gene

    Size:
    885 amino acids
    Molecular mass:
    99279 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420; Name=Mn(2+); Xref=ChEBI:CHEBI:29035;
    Quaternary structure:
    • Interacts with XRN1.

    Alternative splice isoforms for DIS3L2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DIS3L2 Gene

Selected DME Specific Peptides for DIS3L2 Gene

Q8IYB7:
  • GVHIADV
  • GRTIIRS
  • TARDLDDA
  • EEFMLLAN

Post-translational modifications for DIS3L2 Gene

  • Ubiquitination at posLast=652652 and posLast=596596
  • Modification sites at PhosphoSitePlus

Domains & Families for DIS3L2 Gene

Gene Families for DIS3L2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for DIS3L2 Gene

Suggested Antigen Peptide Sequences for DIS3L2 Gene

GenScript: Design optimal peptide antigens:
  • DIS3-like exonuclease 2 (DI3L2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8IYB7

UniProtKB/Swiss-Prot:

DI3L2_HUMAN :
  • Specifically recognizes and binds polyuridylated RNAs via 3 RNA-binding regions (named U-zone 1, U-zone 2 and U-zone 3) that form an open funnel on one face of the catalytic domain, allowing RNA to navigate a path to the active site.
  • Belongs to the RNR ribonuclease family. DIS3L2 subfamily.
Domain:
  • Specifically recognizes and binds polyuridylated RNAs via 3 RNA-binding regions (named U-zone 1, U-zone 2 and U-zone 3) that form an open funnel on one face of the catalytic domain, allowing RNA to navigate a path to the active site.
Family:
  • Belongs to the RNR ribonuclease family. DIS3L2 subfamily.
genes like me logo Genes that share domains with DIS3L2: view

Function for DIS3L2 Gene

Molecular function for DIS3L2 Gene

UniProtKB/Swiss-Prot 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 polyuridylated by a terminal uridylyltransferase, such as ZCCHC11/TUT4. Mediates degradation of cytoplasmic mRNAs that have been deadenylated and subsequently uridylated at their 3'. Mediates degradation of uridylated pre-let-7 miRNAs, contributing to the maintenance of embryonic stem (ES) cells. Essential for correct mitosis, and negatively regulates cell proliferation.

Enzyme Numbers (IUBMB) for DIS3L2 Gene

Phenotypes From GWAS Catalog for DIS3L2 Gene

Gene Ontology (GO) - Molecular Function for DIS3L2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000175 3'-5'-exoribonuclease activity IDA 23756462
GO:0000287 magnesium ion binding IEA,IDA 24141620
GO:0003723 RNA binding IEA --
GO:0004518 nuclease activity IEA --
GO:0004527 exonuclease activity IEA --
genes like me logo Genes that share ontologies with DIS3L2: view
genes like me logo Genes that share phenotypes with DIS3L2: view

Human Phenotype Ontology for DIS3L2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA for DIS3L2 Gene

miRTarBase miRNAs that target DIS3L2

Clone Products

  • Applied Biological Materials (abm): Clones for DIS3L2 - Now 50% OFF >
  • * DIS3L2 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * DIS3L2 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for DIS3L2 Gene

Localization for DIS3L2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DIS3L2 Gene

Cytoplasm. Cytoplasm, P-body.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DIS3L2 gene
Compartment Confidence
nucleus 2
extracellular 1
cytosol 1

Gene Ontology (GO) - Cellular Components for DIS3L2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000178 exosome (RNase complex) IBA 21873635
GO:0000932 P-body IDA,IBA 23756462
GO:0005737 cytoplasm IDA,IEA 22306653
GO:0005844 polysome TAS 23756462
genes like me logo Genes that share ontologies with DIS3L2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for DIS3L2 Gene

Pathways & Interactions for DIS3L2 Gene

PathCards logo

SuperPathways for DIS3L2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for DIS3L2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000278 mitotic cell cycle IMP 22306653
GO:0000291 nuclear-transcribed mRNA catabolic process, exonucleolytic IMP 23756462
GO:0006914 autophagy IEA --
GO:0007049 cell cycle IEA --
GO:0008285 negative regulation of cell proliferation IMP 22306653
genes like me logo Genes that share ontologies with DIS3L2: view

No data available for Pathways by source and SIGNOR curated interactions for DIS3L2 Gene

Drugs & Compounds for DIS3L2 Gene

No Compound Related Data Available

Transcripts for DIS3L2 Gene

mRNA/cDNA for DIS3L2 Gene

Unigene Clusters for DIS3L2 Gene

DIS3 mitotic control homolog (S. cerevisiae)-like 2:
Representative Sequences:

CRISPR Products

Clone Products

  • Applied Biological Materials (abm): Clones for DIS3L2 - Now 50% OFF >
  • * DIS3L2 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * DIS3L2 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All

Alternative Splicing Database (ASD) splice patterns (SP) for DIS3L2 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17a · 17b ^ 18a · 18b ^ 19a · 19b ^ 20
SP1: - - - - - - - - -
SP2:
SP3: -
SP4:

Relevant External Links for DIS3L2 Gene

GeneLoc Exon Structure for
DIS3L2
ECgene alternative splicing isoforms for
DIS3L2

Expression for DIS3L2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for DIS3L2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for DIS3L2 Gene

This gene is overexpressed in Fetal Brain (13.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for DIS3L2 Gene



Protein tissue co-expression partners for DIS3L2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of DIS3L2 Gene:

DIS3L2

SOURCE GeneReport for Unigene cluster for DIS3L2 Gene:

Hs.732236

Evidence on tissue expression from TISSUES for DIS3L2 Gene

  • Nervous system(4.2)
  • Liver(4.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for DIS3L2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cheek
  • chin
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • nose
  • outer ear
  • skull
  • tooth
Thorax:
  • aorta
  • diaphragm
  • heart
  • lung
Abdomen:
  • abdominal wall
  • intestine
  • kidney
  • large intestine
  • liver
  • pancreas
  • small intestine
  • spleen
  • stomach
Pelvis:
  • penis
  • placenta
  • testicle
  • uterus
General:
  • blood
  • blood vessel
  • skin
genes like me logo Genes that share expression patterns with DIS3L2: view

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for DIS3L2 Gene

Orthologs for DIS3L2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for DIS3L2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DIS3L2 35 34
  • 99.54 (n)
OneToOne
dog
(Canis familiaris)
Mammalia DIS3L2 35 34
  • 90.37 (n)
OneToOne
cow
(Bos Taurus)
Mammalia DIS3L2 35 34
  • 88.63 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Dis3l2 17 35 34
  • 86.76 (n)
rat
(Rattus norvegicus)
Mammalia Dis3l2 34
  • 86.24 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 82 (a)
OneToMany
-- 35
  • 62 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia DIS3L2 35
  • 82 (a)
OneToOne
chicken
(Gallus gallus)
Aves DIS3L2 35 34
  • 72.77 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DIS3L2 35
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dis3l2 34
  • 67.47 (n)
Str.6867 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.25728 34
zebrafish
(Danio rerio)
Actinopterygii LOC566106 34
  • 66.06 (n)
dis3l2 35
  • 53 (a)
OneToOne
wufi24g12 34
fruit fly
(Drosophila melanogaster)
Insecta CG16940 35
  • 27 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea F48E8.6 35 34
  • 50.94 (n)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes DIS3 35
  • 23 (a)
OneToMany
DSS1 37
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G77680 34
  • 48.15 (n)
rice
(Oryza sativa)
Liliopsida Os02g0754100 34
  • 44.84 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAC2C4.07c 34
  • 48.27 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5449 35
  • 45 (a)
OneToOne
Cin.4876 34
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4876 34
Species where no ortholog for DIS3L2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for DIS3L2 Gene

ENSEMBL:
Gene Tree for DIS3L2 (if available)
TreeFam:
Gene Tree for DIS3L2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for DIS3L2: view image

Paralogs for DIS3L2 Gene

Paralogs for DIS3L2 Gene

(1) SIMAP similar genes for DIS3L2 Gene using alignment to 6 proteins:

  • DI3L2_HUMAN
  • C9JGP4_HUMAN
  • H7C036_HUMAN
  • H7C1Q8_HUMAN
  • H7C302_HUMAN
  • H7C440_HUMAN
genes like me logo Genes that share paralogs with DIS3L2: view

Variants for DIS3L2 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for DIS3L2 Gene

DI3L2_HUMAN-Q8IYB7
Disrupted by a t(2;7)(q37.1;q21.3) chromosomal translocation found in a patient suffering from Marfanoid habitus and skeletal anomalies. However, its absence does not seem to be the cause of the disease.

Sequence variations from dbSNP and Humsavar for DIS3L2 Gene

SNP ID Clin Chr 02 pos Variation AA Info Type
rs1000963300 uncertain-significance, Renal hamartomas nephroblastomatosis and fetal gigantism 232,015,633(+) G/C/T coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs1018058365 uncertain-significance, Renal hamartomas nephroblastomatosis and fetal gigantism 232,263,409(+) G/A coding_sequence_variant, genic_downstream_transcript_variant, intron_variant, missense_variant, non_coding_transcript_variant
rs1021555252 likely-benign, Renal hamartomas nephroblastomatosis and fetal gigantism 232,210,332(+) C/T coding_sequence_variant, genic_downstream_transcript_variant, non_coding_transcript_variant, synonymous_variant
rs1022276697 uncertain-significance, Renal hamartomas nephroblastomatosis and fetal gigantism 232,130,640(+) C/A/T coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs1055806361 likely-benign, Renal hamartomas nephroblastomatosis and fetal gigantism 232,130,659(+) C/G coding_sequence_variant, non_coding_transcript_variant, synonymous_variant

Structural Variations from Database of Genomic Variants (DGV) for DIS3L2 Gene

Variant ID Type Subtype PubMed ID
dgv160n111 CNV duplication 26073780
dgv4182n100 CNV gain 25217958
dgv493n27 CNV loss 19166990
dgv494n27 CNV gain 19166990
dgv632e201 CNV deletion 23290073
dgv7336n54 CNV gain 21841781
dgv7337n54 CNV loss 21841781
dgv767e199 CNV deletion 23128226
esv1000331 CNV insertion 20482838
esv2072026 CNV deletion 18987734
esv2314532 CNV deletion 18987734
esv2483533 CNV deletion 19546169
esv2659833 CNV deletion 23128226
esv2671155 CNV deletion 23128226
esv2721625 CNV deletion 23290073
esv2759117 CNV gain+loss 17122850
esv2763626 CNV gain+loss 21179565
esv3384116 CNV insertion 20981092
esv34493 CNV gain 17911159
esv3594637 CNV loss 21293372
esv3594638 CNV loss 21293372
esv3594639 CNV loss 21293372
esv3594640 CNV loss 21293372
esv3594641 CNV gain 21293372
esv3893569 CNV loss 25118596
esv3893570 CNV gain+loss 25118596
esv7611 CNV gain 19470904
nsv1008780 CNV loss 25217958
nsv1136481 CNV deletion 24896259
nsv213397 CNV insertion 16902084
nsv3208 CNV deletion 18451855
nsv3209 CNV deletion 18451855
nsv428408 CNV gain+loss 18775914
nsv436293 CNV deletion 17901297
nsv478017 CNV novel sequence insertion 20440878
nsv517411 CNV gain 19592680
nsv522450 CNV loss 19592680
nsv527152 CNV gain 19592680
nsv584679 CNV gain 21841781
nsv821918 CNV gain 20364138
nsv953200 CNV deletion 24416366

Variation tolerance for DIS3L2 Gene

Residual Variation Intolerance Score: 22.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.63; 65.57% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DIS3L2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
DIS3L2
Human Gene Mutation Database (HGMD)
DIS3L2

Disorders for DIS3L2 Gene

MalaCards: The human disease database

(4) MalaCards diseases for DIS3L2 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
perlman syndrome
  • nephroblastoma
wilms tumor predisposition
wilms tumor 1
  • wt1
hydronephrosis
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

DI3L2_HUMAN
  • Perlman syndrome (PRLMNS) [MIM:267000]: An autosomal recessive congenital overgrowth syndrome. Affected children are large at birth, are hypotonic, and show organomegaly, characteristic facial dysmorphisms (inverted V-shaped upper lip, prominent forehead, deep-set eyes, broad and flat nasal bridge, and low-set ears), renal anomalies (nephromegaly and hydronephrosis), frequent neurodevelopmental delay, and high neonatal mortality. Perlman syndrome is associated with a high risk of Wilms tumor. Histologic examination of the kidneys in affected children shows frequent nephroblastomatosis, which is a precursor lesion for Wilms tumor. {ECO:0000269 PubMed:22306653, ECO:0000269 PubMed:23486540, ECO:0000269 PubMed:23613427, ECO:0000269 PubMed:28328139}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for DIS3L2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with DIS3L2: view

No data available for Genatlas for DIS3L2 Gene

Publications for DIS3L2 Gene

  1. Germline mutations in DIS3L2 cause the Perlman syndrome of overgrowth and Wilms tumor susceptibility. (PMID: 22306653) Astuti D … Maher ER (Nature genetics 2012) 2 3 4 58
  2. The exoribonuclease Dis3L2 defines a novel eukaryotic RNA degradation pathway. (PMID: 23503588) Malecki M … Arraiano CM (The EMBO journal 2013) 2 3 58
  3. Perlman syndrome: overgrowth, Wilms tumor predisposition and DIS3L2. (PMID: 23613427) Morris MR … Maher ER (American journal of medical genetics. Part C, Seminars in medical genetics 2013) 3 4 58
  4. Exonuclease hDIS3L2 specifies an exosome-independent 3'-5' degradation pathway of human cytoplasmic mRNA. (PMID: 23756462) Lubas M … Dziembowski A (The EMBO journal 2013) 3 4 58
  5. Mammalian DIS3L2 exoribonuclease targets the uridylated precursors of let-7 miRNAs. (PMID: 24141620) Ustianenko D … Vanacova S (RNA (New York, N.Y.) 2013) 3 4 58

Products for DIS3L2 Gene

Sources for DIS3L2 Gene

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