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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

DIS3L2 Gene

protein-coding   GIFtS: 54
GCID: GC02P232825

DIS3 Mitotic Control Homolog (S. Cerevisiae)-Like 2

(Previous names: family with sequence similarity 6, member A)
(Previous symbol: FAM6A)
Microbiology & Infectious Diseases Congress
  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

Aliases
DIS3 Mitotic Control Homolog (S. Cerevisiae)-Like 21 2     PRLMNS2
FAM6A1 2 3     DIS3-Like Exonuclease 22
Family With Sequence Similarity 6, Member A1 2     EC 3.1.13.-3
hDIS3L22 3     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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 mitotic control homolog (S. cerevisiae)-like 2) is a protein-coding gene. Diseases associated with DIS3L2 include renal hamartomas nephroblastomatosis and fetal gigantism, and hydronephrosis. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NC_018913.2  NT_005403.17  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for DIS3L2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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)
Subcellular location: Cytoplasm. Cytoplasm, P-body
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q8IYB7

  • 4 DME Specific Peptides for DIS3L2 (Q8IYB7)
     GRTIIRS  GVHIADV  TARDLDDA  EEFMLLAN 

    DIS3L2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    DIS3L2 Protein Expression
    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  

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    Cloud-Clone Corp. Proteins for DIS3L2 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    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



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    2 InterPro protein domains:
     IPR022966 RNase_II/R_CS
     IPR001900 RNase_II/R

    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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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 (GO ID links to tree view):    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:
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for DIS3L2 
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    SwitchGear 3'UTR luciferase reporter plasmidDIS3L2 3' UTR sequence
    Inhib. RNA
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    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for DIS3L2

    STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

    5/7 Interacting proteins for DIS3L2 (Q8IYB72, 3 ENSP000003155694) via UniProtKB, MINT, STRING, and/or I2D (see all 7)
    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): 5/8 biological process terms (GO ID links to tree view) (see all 8):    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 HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for DIS3L2 (DI3L2)

    Search CenterWatch for drugs/clinical trials and news about 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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

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

    Unigene Cluster for DIS3L2:

    DIS3 mitotic control homolog (S. cerevisiae)-like 2
    Hs.732236  [show with all ESTs]
    Unigene Representative Sequence: AL834174
    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

    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    8/10 QIAGEN miScript miRNA Assays for microRNAs that regulate DIS3L2 (see all 10):
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    Additional mRNA sequence: 

    AF443854.1 AK094293.1 AK295363.1 AL834174.1 BC026166.1 BC030113.2 BC036113.1 BX648325.1 
    NR_046476.1 NR_046477.1 

    13 DOTS entries:

    DT.86821189  DT.100782363  DT.91935067  DT.101978398  DT.454924  DT.95373257  DT.121005994  DT.40218109 
    DT.86852494  DT.100782362  DT.100782364  DT.121005980  DT.95311756 

    24/109 AceView cDNA sequences (see all 109):

    BU623441 AI493578 AW235225 CR598716 CD692148 AK094293 CR590558 BE550401 
    BM128893 AW589919 BG746662 BX377429 BE791331 BQ071152 BM128478 CA396505 
    BQ717073 AW629200 BX382985 AK090419 CD251979 BQ954228 AL834174 AL044909 

    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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    DIS3L2 expression in normal human tissues (normalized intensities)      DIS3L2 embryonic expression: see
    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 
     5/2 selected tissues (see all 2) fully expand
     
     Testis (Reproductive System)
             sperm   
     
     Brain (Nervous System)
             Myelinating Oligodendrocyte Cells Forebrain White Matter

    See DIS3L2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for DIS3L2

    SOURCE GeneReport for Unigene cluster: Hs.732236
        SABiosciences Custom PCR Arrays for DIS3L2
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    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

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for DIS3L2 gene from 10/20 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 86.7(n)1
    87.36(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 72.42(n)
    72.19(a)
      424934  XM_422741.3  XP_422741.3 
    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
    --
    23(a)
    1 ↔ 1
    3L(212709-216479)
    worm
    (Caenorhabditis elegans)
    Secernentea F48E8.61 Protein F48E8.6 51.42(n)
    44.95(a)
      175748  NM_065759.2  NP_498160.1 
    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 Ribonuclease II/R-like protein 46.39(n)
    38.37(a)
      844104  NM_106417.2  NP_177891.1 
    rice
    (Oryza sativa)
    Liliopsida Os02g07541001 hypothetical protein 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
    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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    UniProtKB/Swiss-Prot: DI3L2_HUMAN, Q8IYB7
    Polymorphism: 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


    10/6794 SNPs in DIS3L2 are shown (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--------
    VAR_0675794
    ----see VAR_0675792 R H 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--------

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

    Structural Variations
         Database of Genomic Variants (DGV) 10/27 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
    SABiosciences Cancer Mutation 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, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 614184    OMIM disorders: --

    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

  • 4 diseases for DIS3L2:    About MalaCards
    renal hamartomas nephroblastomatosis and fetal gigantism    hydronephrosis    wilms tumor    pneumonia


    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

    PubMed articles for DIS3L2 gene, integrated from 9 sources (see all 22):
    (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. (2012)
    2. A genome-wide association study in 19 633 Japanese su bjects identified LHX3-QSOX2 and IGF1 as adult height loci. (PubMed id 20189936)1, 4 Okada Y....Kamatani N. (2010)
    3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    4. A genome-wide association study of northwestern Europ eans involves the C-type natriuretic peptide signaling pathway in the etiology of human height variation. (PubMed id 19570815)1, 4 Estrada K....Kayser M. (2009)
    5. Many sequence variants affecting diversity of adult human height. (PubMed id 18391951)1, 4 Gudbjartsson D.F....Stefansson K. (2008)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    7. 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. (2001)
    8. Genome-wide meta-analysis identifies 11 new loci for a nthropometric traits and provides insights into genetic architecture. (PubMed id 23563607)1 Berndt S.I....Ingelsson E. (2013)
    9. Exonuclease hDIS3L2 specifies an exosome-independent 3'-5' degradation pathway of human cytoplasmic mRNA. (PubMed id 23756462)2 Lubas M....Dziembowski A. (2013)
    10. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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
    Entrez Gene: 129563 HGNC: 28648 AceView: MGC42174 Ensembl:ENSG00000144535 euGenes: HUgn129563
    ECgene: DIS3L2 H-InvDB: DIS3L2

    (According to HUGE)
    About This Section
      --

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



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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