Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 
or upload a file of gene symbols


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

DIS3L2 Gene

protein-coding   GIFtS: 50
GCID: GC02P232825

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

(Previous names: family with sequence similarity 6, member A )
(Previous symbol: FAM6A)
 Explore 4 diseases affiliated with
DIS3L2 via our new
 Human Malady Compendium 
Biological research products
for DIS3L2
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
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
FLJ369741     EC 3.1.138
MGC421741     

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:
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)

UniProtKB/Swiss-Prot: DI3L2_HUMAN, Q8IYB7
Function: Ribonuclease that plays a critical role in RNA metabolism. It is 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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NC_018913.1  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 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: DI3L2_HUMAN, Q8IYB7 (See protein sequence)
Recommended Name: DIS3-like exonuclease 2  
Size: 885 amino acids; 99279 Da
Subcellular location: Cytoplasm
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q8IYB7

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

    DIS3L2 Protein expression data from MOPED and PaxDb:    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  

    Human Recombinant Protein Products for DIS3L2: 
    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
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate: DIS3L2
    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 ProSpec Recombinant Proteins
    Uscn Proteins for DIS3L2

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA--

    DIS3L2 for ontologies           About GeneDecksing



    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 
    GenScript Custom Superior Antibodies Services for DIS3L2
    Novus Biologicals DIS3L2 Antibodies
    Abcam antibodies for DIS3L2 
    Uscn Antibodies for DIS3L2
    Search ThermoFisher Antibodies for DIS3L2

    Assay Products for DIS3L2: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Immunoassay Development
    Browse OriGene Fluorogenic Cell Assay Kits
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for DIS3L2
    Browse Enzo Life Sciences for kits & assays
    Uscn ELISAs and CLIAs for DIS3L2


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

    DIS3L2 for domains           About GeneDecksing

    2 InterPro domains/families:
     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


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, 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, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: DI3L2_HUMAN, Q8IYB7
    Function: Ribonuclease that plays a critical role in RNA metabolism. It is essential for correct mitosis, and
    negatively regulates cell proliferation

         Enzyme Numbers (IUBMB): EC 3.1.13.-1 EC 3.1.132

         Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003723RNA binding IEA--
    GO:0004527exonuclease activity IEA--
    GO:0004540ribonuclease activity IDA--
         
    DIS3L2 for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for DIS3L2 

    miRNA
    Products:
        
    OriGene 3'-UTR Clone: DIS3L2
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat DIS3L2
    8/10 QIAGEN miScript miRNA 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:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for DIS3L2 (see all 7)
    OriGene shRNA RFP: DIS3L2
    OriGene siRNA: DIS3L2
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat DIS3L2
    Sirion Biotech Custom design and validation of potent shRNA sequences against DIS3L2 

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for DIS3L2
    Sirion Biotech Customized adenovirus for overexpression of DIS3L2 
    Sirion Biotech Customized adenovirus for potent knockdown of DIS3L2

    Clone
    Products:
         
    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for DIS3L2 (see all 4)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for DIS3L2 (see all 2)
    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
    Search LifeMap BioReagents cell lines for DIS3L2
    Sirion Biotech Customized stable knockdown cell line services for DIS3L2 
    Sirion Biotech Customized inducible knockdown cell line services for DIS3L2
    Sirion Biotech Customized stable overexpressing cell line services for DIS3L2
    Sirion Biotech Customized inducible overexpressing cell line services for DIS3L2

    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DIS3L2


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 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): 4 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007067mitosis IMP--
    GO:0008285negative regulation of cell proliferation IMP--
    GO:0051301cell division IEA--
    GO:0051306mitotic sister chromatid separation IMP--

    DIS3L2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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
    Search CenterWatch for drugs/clinical trials and news about DIS3L2 / DI3L2 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, 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


    miRNA
    Products:
         
    OriGene 3'-UTR Clone: DIS3L2
    Browse OriGene MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat DIS3L2
    8/10 QIAGEN miScript miRNA 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:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for DIS3L2 (see all 7)
    OriGene shRNA RFP: DIS3L2
    OriGene siRNA: DIS3L2
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat DIS3L2
    Sirion Biotech Custom design and validation of potent shRNA sequences against DIS3L2 
    Clone
    Products:
         
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for DIS3L2 (see all 4)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for DIS3L2 (see all 2)
    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 genome-wide validated SYBR primer pairs in human, mouse, rat for DIS3L2
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat DIS3L2
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat DIS3L2
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat DIS3L2

    Additional cDNA 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):

    BQ954228 BX382985 BE791331 CD251979 AI493578 AK090419 BX377429 BQ717073 
    AL834174 BG746662 BM128893 AW629200 CA396505 AI650526 BM128478 CR590558 
    BU623441 AL044909 AW589919 BQ071152 AW235225 AK094293 CD692148 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™, 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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GAGCAGGAGC
    DIS3L2 Expression
    About this image
    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

    Primer
    Products:
    OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for DIS3L2
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat DIS3L2
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat DIS3L2
    QIAGEN 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

    This gene was present in the last universal common ancestor (LUCA).

    Orthologs for DIS3L2 gene from 9/33 species (see all 33)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    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
    --
    74(a)
    1 ↔ 1
    GL343304.1(734976-820867)
    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
    --
    22(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 
    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 
    E. coli
    (Escherichia coli)
    Gamma proteobacteria rnb6
    rnr6
    exoribonuclease R, RNase R
    19(a)
    17(a)
    possible ortholog
    possible ortholog
    Chromosome(1345002-1346936)
    Chromosome(4404677-4407118)


    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  
    2 SIMAP similar genes for DIS3L2 using alignment to 6 protein entries:     DI3L2_HUMAN (see all proteins):
    FLJ00327    DIS3

    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, UniProtKB, 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


    10/5775 NCBI SNPs in DIS3L2 are shown (see all 5775    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs171997331,2
    C,F,H--224675391(+) CCCTGG/AATGCC 5 -- us2k116Minor allele frequency- A:0.05NA NS EA CSA WA 1210
    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
    rs1118818311,2
    C--224676157(+) CACCAC/TGTCTG 5 -- us2k11Minor allele frequency- T:0.50NA 2
    rs168285411,2
    C,F,H--224676429(+) TTTCCT/CAGGTC 5 -- us2k110Minor allele frequency- C:0.06NA NS WA 1052
    rs730985041,2
    C--224676702(+) GGGACC/TATGCG 5 -- us2k11Minor allele frequency- T:0.50WA 2
    rs116747431,2
    C,F,H--224677608(+) GAGATG/ATTCAG 5 -- int17Minor allele frequency- A:0.01NS EA NA 580
    rs75729081,2
    C,F,A,H--224678004(+) attctC/Tctgcc 5 -- int13Minor allele frequency- T:0.29NA WA CSA 7
    rs346810461,2
    F--224678294(+) TGTGGG/TGTTTA 5 -- int11Minor allele frequency- T:0.50NA 4

    HapMap Linkage Disequilibrium report for DIS3L2 (232825955 - 233075955 bp, first 250kb of DIS3L2)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 8 variations for DIS3L2
         7 CNVs: 44018 50413 90335 50412 8398 3408 98168
         1 Indel: 60353
    Human Gene Mutation Database (HGMD): DIS3L2

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat 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

    DIS3L2 for disorders           About GeneDecksing

    OMIM gene information: 614184    OMIM disorders: --

    UniProtKB/Swiss-Prot: DI3L2_HUMAN, Q8IYB7
  • Defects in DIS3L2 are the cause of 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

    4 diseases for DIS3L2:    About MalaCards
    pneumonia    malaria    overgrowth syndrome    wilms tumor

    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 18):
    (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. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    3. 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)
    4. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    5. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    6. A genome-wide association study in 19 633 Japanese su bjects identified LHX3-QSOX2 and IGF1 as adult height loci. (PubMed id 20189936)1 Okada Y....Kamatani N. (2010)
    7. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1 Rose J.E....Uhl G.R. (2010)
    8. Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis. (PubMed id 20068231)2 Olsen J.V....Mann M. (2010)
    9. Lysine acetylation targets protein complexes and co-regulates major cellular functions. (PubMed id 19608861)2 Choudhary C.... Mann M. (2009)
    10. 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 Estrada K....Kayser M. (2009)

    (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



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

     
     EMD Millipore Custom Antibody & Bulk Services
     EMD Millipore Preclinical / Clinical Development Services
     EMD Millipore Immunoassay Services
     EMD Millipore Target Screening & Profiling Services

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Kinase Activity Assays/Reagents  
     Browse ELISpot 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 Multiplex/Array Assay Kits/Reagents  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Phosphatase Activity Assays/Reagents   Browse Recombinant/Natural Proteins  
     Browse OriGene Antibodies   OriGene shRNA RFP for DIS3L2  
     OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for DIS3L2   OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for DIS3L2  
     OriGene Protein Over-expression Lysate for DIS3L2   Browse OriGene Fluorogenic Cell Assay Kits  
     OriGene siRNA for DIS3L2   OriGene 3'-UTR Clone for DIS3L2  
     OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for DIS3L2   OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for DIS3L2  
     Browse OriGene GFP tagged cDNA clones in CMV expression vector   Browse OriGene MicroRNA Expression Plasmids  
     Browse OriGene basic RS shRNAs   Browse OriGene validated miRNA SYBR primer pairs  
     Browse OriGene full length recombinant human proteins expressed in human HEK293 cells   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for DIS3L2   OriGene Custom Protein Services for DIS3L2  
     OriGene Custom Immunoassay Development  

     
     
     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat DIS3L2
     QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing DIS3L2
     QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DIS3L2
     QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat DIS3L2
     QIAGEN QuantiFast Probe-based Assays in human, mouse, rat DIS3L2
     QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat DIS3L2
     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 Superior Antibodies 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

     Regulatory tfbs in DIS3L2 promoter
     Search Chromatin IP Primers for DIS3L2
     RT2 qPCR Primer Assay in human, mouse, rat DIS3L2
     Search GNC Networks for DIS3L2
     SABiosciences Custom PCR Arrays for DIS3L2
     Search Tocris compounds for DIS3L2
     Browse Sino Biological Proteins and Antibodies
     Browse Sino Biological cDNA Clones
     Antibodies/Proteins Production Services
     Rabbit Monoclonal Antibody Platform
     Bulk Purchasing
     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




     DIS3L2 Proteins, Antibodies, CLIAs, and ELISAs
     Search LifeMap BioReagents cell lines 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
     Search ThermoFisher Antibodies for DIS3L2
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DIS3L2
     inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for DIS3L2
    Sirion Biotech Customized:
     stable knockdown cell line services for DIS3L2
     inducible knockdown cell line services for DIS3L2
     design and validation of potent shRNA sequences against DIS3L2
     adenovirus for potent knockdown of DIS3L2
     adenovirus for overexpression of DIS3L2
     stable overexpressing cell line services for DIS3L2
     inducible overexpressing cell line services for DIS3L2
           
    GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013 , 14 May 2013

    View Random Gene

    Category
    VWF
    (GIFTS: 73)
    von Willebrand factor
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 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.
    hostname: 356980-web2.xennexinc.com index build: 106 solr: 1.4