Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 



DIS3L2 Gene

protein-coding   GIFtS: 52
GCID: GC02P232825

DIS3 Like 3'-5' Exoribonuclease 2

(Previous names: family with sequence similarity 6, member A, DIS3 mitotic...)
(Previous symbol: FAM6A)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

TryGeneCards Plus

Aliases
DIS3 Like 3'-5' Exoribonuclease 21 2     DIS3 Mitotic Control Homolog (S. Cerevisiae)-Like 21
FAM6A1 2 3     DIS3 Mitotic Control Homolog-Like 22
Family With Sequence Similarity 6, Member A1 2     DIS3-Like Exonuclease 22
hDIS3L22 3     EC 3.1.13.-3
PRLMNS2 5     EC 3.1.138

External Ids:    HGNC: 286481   Entrez Gene: 1295632   Ensembl: ENSG000001445357   OMIM: 6141845   UniProtKB: Q8IYB73   

Export aliases for DIS3L2 gene to outside databases

Previous GC identifers: GC02P232537 GC02P224677


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

TryGeneCards Plus

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 renal hamartomas nephroblastomatosis and fetal gigantism, and wilms tumor, type 1. GO annotations related to this gene include ribonuclease activity and RNA binding. An important paralog of this gene is DIS3L.

UniProtKB/Swiss-Prot: DI3L2_HUMAN, Q8IYB7
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




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
About This Section

TryGeneCards Plus
Regulatory elements:
   Regulatory transcription factor binding sites in the DIS3L2 gene promoter:
         STAT1   AML1a   HSF1 (long)   STAT1beta   AP-4   STAT1alpha   YY1   c-Myb   FOXO1a   FOXO1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidDIS3L2 promoter sequence
   Search Chromatin IP Primers for DIS3L2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat DIS3L2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 2q37.1   Ensembl cytogenetic band:  2q37.1   HGNC cytogenetic band: 2q37.1

DIS3L2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DIS3L2 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02P232825:  view genomic region     (about GC identifiers)

Start:
232,825,955 bp from pter      End:
233,209,060 bp from pter
Size:
383,106 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
About This Section

TryGeneCards Plus

UniProtKB/Swiss-Prot: DI3L2_HUMAN, Q8IYB7 (See protein sequence)
Recommended Name: DIS3-like exonuclease 2  
Size: 885 amino acids; 99279 Da
Cofactor: Magnesium or manganese (Probable)
Caution: Although assigned as two separate genes (DIS3L2 and FAM6A), it is quite clear that the gene FAM6A
described by PubMed:11352565 is a fragmentary prediction of DIS3L2
Secondary accessions: Q53S79 Q580W6 Q5XKH0 Q69YG5 Q6AW99 Q7Z4T6 Q8N9K9
Alternative splicing: 5 isoforms:  Q8IYB7-1   Q8IYB7-2   Q8IYB7-3   Q8IYB7-4   Q8IYB7-5   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for DIS3L2: NX_Q8IYB7

Explore proteomics data for DIS3L2 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys596, Lys652
  • Modification sites at PhosphoSitePlus
  • 4 DME Specific Peptides for DIS3L2 (Q8IYB7)
     GRTIIRS  GVHIADV  TARDLDDA  EEFMLLAN 


    See DIS3L2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001244210.1  NP_001244211.1  NP_689596.4  

    ENSEMBL proteins: 
     ENSP00000273009   ENSP00000386594   ENSP00000374655   ENSP00000388999   ENSP00000390467  
     ENSP00000386799   ENSP00000391175   ENSP00000415419   ENSP00000392754   ENSP00000401700  
     ENSP00000408764   ENSP00000315569   ENSP00000353584  

    DIS3L2 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein for DIS3L2
    OriGene Protein Over-expression Lysate for DIS3L2
    OriGene Custom MassSpec
    OriGene Custom Protein Services for DIS3L2
    GenScript Custom Purified and Recombinant Proteins Services for DIS3L2
    Novus Biologicals DIS3L2 Protein
    Novus Biologicals DIS3L2 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for DIS3L2

    DIS3L2 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for DIS3L2
    Novus Biologicals DIS3L2 Antibodies
    Abcam antibodies for DIS3L2
    Cloud-Clone Corp. Antibodies for DIS3L2
    ThermoFisher Antibodies for DIS3L2
    LSBio Antibodies in human, mouse, rat for DIS3L2

    DIS3L2 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for DIS3L2
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for DIS3L2
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for DIS3L2
    Cloud-Clone Corp. CLIAs for DIS3L2


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    TryGeneCards Plus
    3 InterPro protein domains:
     IPR028591 DIS3L2
     IPR022966 RNase_II/R_CS
     IPR012340 NA-bd_OB-fold

    Graphical View of Domain Structure for InterPro Entry Q8IYB7

    ProtoNet protein and cluster: Q8IYB7

    UniProtKB/Swiss-Prot: DI3L2_HUMAN, Q8IYB7
    Similarity: Belongs to the RNR ribonuclease family. DIS3L2 subfamily


    DIS3L2 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: DI3L2_HUMAN, Q8IYB7
    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): EC 3.1.13.-1 EC 3.1.132

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:00001753'-5'-exoribonuclease activity IDA--
    GO:0003723RNA binding IEA--
    GO:0004540ribonuclease activity IDA--
    GO:0005515protein binding IPI--
         
    DIS3L2 for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for DIS3L2
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for DIS3L2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for DIS3L2
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for DIS3L2

    miRNA
    Products:
        
    Block miRNA regulation of human, mouse, rat DIS3L2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate DIS3L2 (see all 10):
    hsa-miR-548am hsa-miR-125a-5p hsa-miR-548d-3p hsa-miR-1285 hsa-miR-612 hsa-miR-125b hsa-miR-548x hsa-miR-558
    SwitchGear 3'UTR luciferase reporter plasmidDIS3L2 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for DIS3L2
    Predesigned siRNA for gene silencing in human, mouse, rat DIS3L2

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for DIS3L2

    Clone
    Products:
         
    OriGene clones in human, mouse for DIS3L2 (see all 9)
    OriGene ORF clones in mouse, rat for DIS3L2
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: DIS3L2 (NM_152383)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for DIS3L2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DIS3L2

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for DIS3L2
    Browse ESI BIO Cell Lines and PureStem Progenitors for DIS3L2 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DIS3L2


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Subcellular locations from UniProtKB/Swiss-Prot
    DI3L2_HUMAN, Q8IYB7: Cytoplasm. Cytoplasm, P-body
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol2
    nucleus2

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000932cytoplasmic mRNA processing body IDA--
    GO:0005737cytoplasm IDA--
    GO:0005844polysome TAS--

    DIS3L2 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
    About This Section

    TryGeneCards Plus



        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for DIS3L2
    Interactions:

        Search GeneGlobe Interaction Network for DIS3L2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for DIS3L2 (Q8IYB72, 3 ENSP000003155694) via UniProtKB, MINT, STRING, and/or I2D (see all 145)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    COPS6Q7L5N12, 3MINT-64940 I2D: score=5 
    FEZ1Q996892, 3MINT-64942 I2D: score=5 
    VIMP086702, 3MINT-64941 I2D: score=5 
    VCLP182063I2D: score=1 
    CBX2ENSP000003087504STRING: ENSP00000308750
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000291nuclear-transcribed mRNA catabolic process, exonucleolytic IMP--
    GO:0007067mitosis IMP--
    GO:0008285negative regulation of cell proliferation IMP--
    GO:0010587miRNA catabolic process ISS--
    GO:0019827stem cell maintenance ISS--

    DIS3L2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
    About This Section

    TryGeneCards Plus
    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for DIS3L2 (DI3L2)



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
    About This Section

    TryGeneCards Plus

    REFSEQ mRNAs for DIS3L2 gene (3 alternative transcripts): 
    NM_001257281.1  NM_001257282.1  NM_152383.4  

    17 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000273009 ENST00000409401 ENST00000390005 ENST00000445090 ENST00000441279
    ENST00000409307 ENST00000433430(uc002vso.3) ENST00000464554 ENST00000470087
    ENST00000424049 ENST00000498319 ENST00000429283 ENST00000434477 ENST00000418143
    ENST00000417808 ENST00000325385(uc010fxz.3 uc002vsm.4) ENST00000360410

    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat DIS3L2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate DIS3L2 (see all 10):
    hsa-miR-548am hsa-miR-125a-5p hsa-miR-548d-3p hsa-miR-1285 hsa-miR-612 hsa-miR-125b hsa-miR-548x hsa-miR-558
    SwitchGear 3'UTR luciferase reporter plasmidDIS3L2 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for DIS3L2
    Predesigned siRNA for gene silencing in human, mouse, rat DIS3L2
    Clone
    Products:
         
    OriGene clones in human, mouse for DIS3L2 (see all 9)
    OriGene ORF clones in mouse, rat for DIS3L2
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: DIS3L2 (NM_152383)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for DIS3L2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DIS3L2
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for DIS3L2
    OriGene qSTAR qPCR primer pairs in human, mouse for DIS3L2
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat DIS3L2
      QuantiTect SYBR Green Assays in human, mouse, rat DIS3L2
      QuantiFast Probe-based Assays in human, mouse, rat DIS3L2

    Selected AceView cDNA sequences (see all 109):

    BX377429 AL834174 BQ717073 BG746662 BE791331 BX382985 AI493578 BE550401 
    CD251979 AK090419 BQ954228 BM128893 AW629200 CA396505 CR590558 AI650526 
    BM128478 BU623441 AL044909 BQ071152 AW589919 BM699911 AW235225 CR598716 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for DIS3L2    About this scheme

    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:                                                                                                                                          


    ECgene alternative splicing isoforms for DIS3L2

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    TryGeneCards Plus

    DIS3L2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GAGCAGGAGC
    DIS3L2 Expression
    About this image


    DIS3L2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     
     Brain (Nervous System)
             Myelinating Oligodendrocyte Cells Forebrain White Matter
    DIS3L2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    DIS3L2 Protein Expression
        Custom PCR Arrays for DIS3L2
    Primer
    Products:
    OriGene qPCR primer pairs and template standards for DIS3L2
    OriGene qSTAR qPCR primer pairs in human, mouse for DIS3L2
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat DIS3L2
    QuantiTect SYBR Green Assays in human, mouse, rat DIS3L2
    QuantiFast Probe-based Assays in human, mouse, rat DIS3L2
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DIS3L2

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    TryGeneCards Plus

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for DIS3L2 gene from Selected species (see all 20)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Dis3l21 , 5 DIS3 mitotic control homolog (S. cerevisiae)-like 21, 5 86.76(n)1
    87.46(a)1
      1 (43.99 cM)5
    2087181  NM_153530.21  NP_705758.11 
     867038045 
    chicken
    (Gallus gallus)
    Aves DIS3L21 DIS3 mitotic control homolog (S. cerevisiae)-like 2 72.77(n)
    72.61(a)
      424934  XM_422741.4  XP_422741.4 
    lizard
    (Anolis carolinensis)
    Reptilia DIS3L26
    DIS3 mitotic control homolog (S. cerevisiae)-like ...
    76(a)
    1 ↔ 1
    GL343304.1(734338-976954)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.257282 Xenopus laevis transcribed sequence with weak similarity more 74.09(n)    BU913802.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufi24g122 Transcribed sequence with weak similarity to protein more 77.1(n)    BM037351.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG169406
    --
    27(a)
    1 ↔ 1
    3L(212709-216479)
    worm
    (Caenorhabditis elegans)
    Secernentea F48E8.61 F48E8.6 50.94(n)
    44.52(a)
      175748  NM_065759.3  NP_498160.2 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes DSS1(YMR287C)4 3'-5' exoribonuclease, component of the mitochondrial more   --   13(845345-842436) 855331  NP_014014.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT1G776801 AT1G77680 48.15(n)
    40.22(a)
      844104  NM_106417.2  NP_177891.1 
    rice
    (Oryza sativa)
    Liliopsida Os02g07541001 Os02g0754100 44.84(n)
    36.33(a)
      4330762  NM_001054687.1  NP_001048152.1 


    ENSEMBL Gene Tree for DIS3L2 (if available)
    TreeFam Gene Tree for DIS3L2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

    TryGeneCards Plus
    Paralogs for DIS3L2 gene
    DIS3L2  DIS32  
    1 SIMAP similar gene for DIS3L2 using alignment to 6 protein entries:     DI3L2_HUMAN (see all proteins):
    FLJ00327

    DIS3L2 for paralogs           About GeneDecksing


    5 Pseudogenes.org Pseudogenes for DIS3L2
    PGOHUM00000241138 PGOHUM00000241139 PGOHUM00000241140 PGOHUM00000241141 PGOHUM00000241142


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

    TryGeneCards Plus

    Polymorphic Variants from UniProtKB/Swiss-Prot
    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


    Selected SNPs for DIS3L2 (see all 6794)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0675784
    Perlman syndrome (PRLMNS)4--see VAR_0675782 C Y mis40--------
    rs668589361,2
    C--224675296(+) CATCCG/AGCCAC 5 -- us2k15Minor allele frequency- A:0.20NA EA 246
    rs171997331,2
    C,F,H--224675391(+) CCCTGG/AATGCC 5 -- us2k116Minor allele frequency- A:0.05NA NS EA CSA WA 1210
    rs1831387961,2
    --224675438(+) CTACCC/TTCTAC 5 -- us2k10--------
    rs1859715401,2
    --224675450(+) TTTCAA/GAGACA 5 -- us2k10--------
    rs729856221,2
    C,F--224675489(+) GGGTTC/GTAGAA 5 -- us2k11Minor allele frequency- G:0.03NA 120
    rs729856231,2
    C,F--224675513(+) CATTAA/CAAAAC 5 -- us2k11Minor allele frequency- C:0.03NA 120
    rs729856241,2
    C,F--224675639(+) AAACCC/ATGAAT 5 -- us2k11Minor allele frequency- A:0.03NA 120
    rs1473076201,2
    --224675673(+) TGGCCA/GGGTGC 5 -- us2k10--------
    rs1143398881,2
    C,F--224675728(+) GGAAGA/GGTGAG 5 -- us2k11Minor allele frequency- G:0.01NA 120

    HapMap Linkage Disequilibrium report for DIS3L2 (232825955 - 233075955 bp, first 250kb of DIS3L2)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for DIS3L2 (see all 27):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2721625CNV Deletion23290073
    esv2483533CNV Deletion19546169
    esv2072026CNV Deletion18987734
    esv2671155CNV Deletion23128226
    esv2314532CNV Deletion18987734
    dgv675e201CNV Deletion23290073
    dgv767e199CNV Deletion23128226
    esv1000331CNV Insertion20482838
    nsv213397CNV Insertion16902084
    dgv4448n71CNV Loss21882294

    Human Gene Mutation Database (HGMD): DIS3L2
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing DIS3L2
    DNA2.0 Custom Variant and Variant Library Synthesis for DIS3L2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    TryGeneCards Plus
    OMIM gene information: 614184   
    OMIM disorders: 267000  
    UniProtKB/Swiss-Prot: DI3L2_HUMAN, Q8IYB7
  • 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. Note=The disease is
    caused by mutations affecting the gene represented in this entry

  • 8 diseases for DIS3L2:    
    About MalaCards
    renal hamartomas nephroblastomatosis and fetal gigantism    wilms tumor, type 1    hydronephrosis    gigantism
    wilms tumor    pneumonia    multiple myeloma    myeloma


    DIS3L2 for disorders           About GeneDecksing

    Genetic Association Database (GAD): DIS3L2
    Human Genome Epidemiology (HuGE) Navigator: DIS3L2 (1 document)

    Export disorders for DIS3L2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    TryGeneCards Plus

    PubMed articles for DIS3L2 gene, integrated from 10 sources (see all 25):
    (articles sorted by number of sources associating them with DIS3L2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Germline mutations in DIS3L2 cause the Perlman syndrome of overgrowth and Wilms tumor susceptibility. (PubMed id 22306653)1, 2, 3 Astuti D.... Maher E.R. (Nat. Genet. 2012)
    2. The exoribonuclease Dis3L2 defines a novel eukaryotic RNA degradation pathway. (PubMed id 23503588)1, 3 Malecki M....Arraiano C.M. (EMBO J. 2013)
    3. A genome-wide association study in 19 633 Japanese subjects identified LHX3-QSOX2 and IGF1 as adult height loci. (PubMed id 20189936)1, 4 Okada Y....Kamatani N. (Hum. Mol. Genet. 2010)
    4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    5. A genome-wide association study of northwestern Europeans involves the C-type natriuretic peptide signaling pathway in the etiology of human height variation. (PubMed id 19570815)1, 4 Estrada K....Kayser M. (Hum. Mol. Genet. 2009)
    6. Many sequence variants affecting diversity of adult human height. (PubMed id 18391951)1, 4 Gudbjartsson D.F....Stefansson K. (Nat. Genet. 2008)
    7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    8. Complex arrangement of genes within a 220-kb region of double- duplicated DNA on human 2q37.1. (PubMed id 11352565)1, 2 Rump A.... Rosenthal A. (Genomics 2001)
    9. Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture. (PubMed id 23563607)1 Berndt S.I....Ingelsson E. (Nat. Genet. 2013)
    10. Mammalian DIS3L2 exoribonuclease targets the uridylated precursors of let-7 miRNAs. (PubMed id 24141620)1 Ustianenko D....Vanacova S. (RNA 2013)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

    TryGeneCards Plus
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section

    TryGeneCards Plus
    Entrez Gene: 129563 HGNC: 28648 AceView: MGC42174 Ensembl:ENSG00000144535 euGenes: HUgn129563
    ECgene: DIS3L2 H-InvDB: DIS3L2

    (According to HUGE)
    About This Section

    TryGeneCards Plus
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

    TryGeneCards Plus
    NameDescription
    PharmGKB entry for DIS3L2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

    TryGeneCards Plus
    Patent Information for DIS3L2 gene:
    Search GeneIP for patents involving DIS3L2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

    TryGeneCards Plus

     
     EMD Millipore genomic analysis products

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Enzyme Activity Assays/Reagents  
     Browse ELISpot/FluoroSpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Luminex Assays  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Recombinant/Natural Proteins   Browse Stem Cell Products  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     Browse OriGene Antibodies   OriGene RNAi products in human, mouse, rat for DIS3L2  
     OriGene qPCR primer pairs and template standards for DIS3L2   OriGene Protein Over-expression Lysate for DIS3L2  
     OriGene Custom Mass Spec   OriGene clones in human, mouse for DIS3L2  
     OriGene qSTAR qPCR primer pairs in human, mouse for DIS3L2   OriGene Purified Protein for DIS3L2  
     OriGene ORF clones in mouse, rat for DIS3L2   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for DIS3L2   OriGene Custom Protein Services for DIS3L2  

     
     
     Block miRNA regulation of human, mouse, rat DIS3L2 using miScript Target Protectors SeqTarget long-range PCR primers for resequencing DIS3L2
     DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat DIS3L2 Predesigned siRNA for gene silencing in human, mouse, rat DIS3L2
     QuantiFast Probe-based Assays in human, mouse, rat DIS3L2 QuantiTect SYBR Green Assays in human, mouse, rat DIS3L2
     Custom PCR Arrays for DIS3L2 Search Chromatin IP Primers for DIS3L2
     Pre-validated RT2 qPCR Primer Assay in human, mouse, rat DIS3L2  Search GeneGlobe Interaction Network for DIS3L2
     Regulatory tfbs in DIS3L2 promoter
     GenScript Custom Purified and Recombinant Proteins Services for DIS3L2 GenScript cDNA clones with any tag delivered in your preferred vector for DIS3L2
     GenScript Custom Assay Services for DIS3L2 GenScript Custom overexpressing Cell Line Services for DIS3L2
     CloneReady with Over 120,000 Genes  Gene Synthesis: Any Gene in Any Vector
     Vector-based siRNA and miRNA, Ready for Transfection Gene Mutant Library, Variants up to 10^11
     Plasmid Preparation Custom Peptide Services
     Search for Antibodies & Assays

     Search Tocris compounds for DIS3L2 (DI3L2)
     Browse Sino Biological Proteins
     Browse Sino Biological Cell Lysates
     Browse Sino Biological cDNA Clones
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

     Novus Tissue Slides
     DIS3L2 antibodies
     DIS3L2 proteins
     DIS3L2 lysates
     Antibodies for DIS3L2
     See all of Abcam's Antibodies, Kits and Proteins for DIS3L2
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins
     Proteins for DIS3L2
     Antibodies for DIS3L2
     ELISAs for DIS3L2
     CLIAs for DIS3L2



     Browse ESI BIO Cell Lines and PureStem Progenitors for DIS3L2
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DIS3L2
     SwitchGear 3'UTR luciferase reporter plasmids for DIS3L2
     SwitchGear Promoter luciferase reporter plasmids for DIS3L2
     ThermoFisher Antibodies for DIS3L2
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DIS3L2
     inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for DIS3L2
     inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for DIS3L2
     LSBio Antibodies in human, mouse, rat for DIS3L2
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
     Browse compounds at ApexBio
           
    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014

    View Random Gene

    Category
    (GIFtS: )
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      DIS3L2 gene at Home site.
    Version: 3.12.162 20 Aug 2014
    hostname: 356980-web2.xennexinc.com index build: 126 solr: 1.4