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DTX2 Gene

protein-coding   GIFtS: 58
GCID: GC07P076090

Deltex 2, E3 Ubiquitin Ligase

(Previous names: deltex (Drosophila) homolog 2, deltex homolog 2 (Drosophila))
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Deltex 2, E3 Ubiquitin Ligase1 2     Deltex Homolog 2 (Drosophila)1
Protein Deltex-22 3     Deltex Homolog 22
RING Finger Protein 582 3     deltex22
RNF582 3     Probable E3 Ubiquitin-Protein Ligase DTX22
hDTX22 3     Zinc Ion Binding Protein2
KIAA15283 5     Deltex23
Deltex (Drosophila) Homolog 21     EC 6.3.2.-3

External Ids:    HGNC: 159731   Entrez Gene: 1138782   Ensembl: ENSG000000910737   OMIM: 6131415   UniProtKB: Q86UW93   

Export aliases for DTX2 gene to outside databases

Previous GC identifers: GC07P074626 GC07P075689 GC07P075703 GC07P075735 GC07P075928 GC07P071168


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for DTX2 Gene:
DTX2 functions as an E3 ubiquitin ligase (Takeyama et al., 2003 (PubMed 12670957)).(supplied by OMIM, Nov 2009)

GeneCards Summary for DTX2 Gene:
DTX2 (deltex 2, E3 ubiquitin ligase) is a protein-coding gene. GO annotations related to this gene include ligase activity. An important paralog of this gene is DTX1.

UniProtKB/Swiss-Prot: DTX2_HUMAN, Q86UW9
Function: Regulator of Notch signaling, a signaling pathway involved in cell-cell communications that regulates a
broad spectrum of cell-fate determinations. Probably acts both as a positive and negative regulator of Notch,
depending on the developmental and cell context. Mediates the antineural activity of Notch, possibly by
inhibiting the transcriptional activation mediated by MATCH1. Functions as a ubiquitin ligase protein in vitro,
suggesting that it may regulate the Notch pathway via some ubiquitin ligase activity

Gene Wiki entry for DTX2 Gene


(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)
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RefSeq DNA sequence at NCBI GenBank:
NC_000007.13  NT_007933.16  NC_018918.2  NT_187561.1  
Regulatory elements:
   Regulatory transcription factor binding sites in the DTX2 gene promoter:
         Max1   GATA-3   HOXA5   AP-4   Evi-1   GATA-2   GATA-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 9): DTX2 promoter sequence
   Search Chromatin IP Primers for DTX2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat DTX2


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

Entrez Gene cytogenetic band: 7q11.23   Ensembl cytogenetic band:  7q11.23   HGNC cytogenetic band: 7q11.23

DTX2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DTX2 gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07P076090:  view genomic region     (about GC identifiers)

Start:
76,090,972 bp from pter      End:
76,135,312 bp from pter
Size:
44,341 bases      Orientation:
plus strand

1 alternative location:
Chr7+,CRA_TCAG 75,424,036-75,468,376     

(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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: DTX2_HUMAN, Q86UW9 (See protein sequence)
Recommended Name: Probable E3 ubiquitin-protein ligase DTX2  
Size: 622 amino acids; 67246 Da
Subunit: Homodimer. May form a heterodimer with other members of the Deltex family. Interacts with NOTCH1 (By
similarity)
Sequence caution: Sequence=BAA96052.1; Type=Erroneous initiation;
Secondary accessions: Q6XM87 Q6XM88 Q96H69 Q9H890 Q9P200
Alternative splicing: 2 isoforms:  Q86UW9-1   Q86UW9-2   

Explore the universe of human proteins at neXtProt for DTX2: NX_Q86UW9

Explore proteomics data for DTX2 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys249, Lys553
  • Modification sites at PhosphoSitePlus

  • See DTX2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (4 alternative transcripts): 
    NP_001096064.1  NP_001096065.1  NP_001096066.1  NP_065943.2  

    ENSEMBL proteins: 
     ENSP00000407398   ENSP00000409040   ENSP00000389231   ENSP00000322885   ENSP00000390881  
     ENSP00000397648   ENSP00000390218   ENSP00000415838   ENSP00000387894   ENSP00000411986  
     ENSP00000392114   ENSP00000403342   ENSP00000399639   ENSP00000392545   ENSP00000410892  
     ENSP00000305242  
    Reactome Protein details: Q86UW9

    DTX2 Human Recombinant Protein Products:

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    Cloud-Clone Corp. Proteins for DTX2

     
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    antibodies-online peptides for DTX2

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    antibodies-online antibodies for DTX2 (23 products) 

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    antibodies-online kits for DTX2 (2 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    RNF: RING-type (C3HC4) zinc fingers

    5 InterPro protein domains:
     IPR001841 Znf_RING
     IPR004170 WWE-dom
     IPR018123 WWE-dom_subgr
     IPR018957 Znf_C3HC4_RING-type
     IPR013083 Znf_RING/FYVE/PHD

    Graphical View of Domain Structure for InterPro Entry Q86UW9

    ProtoNet protein and cluster: Q86UW9

    1 Blocks protein domain: IPB001841 Zn-finger

    UniProtKB/Swiss-Prot: DTX2_HUMAN, Q86UW9
    Domain: The WWE domains are thought to mediate some protein-protein interaction, and are frequently found in
    ubiquitin ligases (By similarity)
    Similarity: Belongs to the Deltex family
    Similarity: Contains 1 RING-type zinc finger
    Similarity: Contains 2 WWE domains


    Find genes that share domains with DTX2           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: DTX2_HUMAN, Q86UW9
    Function: Regulator of Notch signaling, a signaling pathway involved in cell-cell communications that regulates a
    broad spectrum of cell-fate determinations. Probably acts both as a positive and negative regulator of Notch,
    depending on the developmental and cell context. Mediates the antineural activity of Notch, possibly by
    inhibiting the transcriptional activation mediated by MATCH1. Functions as a ubiquitin ligase protein in vitro,
    suggesting that it may regulate the Notch pathway via some ubiquitin ligase activity

         Enzyme Number (IUBMB): EC 6.3.2.-1

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI16189514
    GO:0008270zinc ion binding IEA--
    GO:0016874ligase activity IEA--
         
    Find genes that share ontologies with DTX2           About GenesLikeMe


    Phenotypes:
         3 GenomeRNAi human phenotypes for DTX2:
     Decreased Wnt reporter activit  Increased Salmonella enterica   Increased cell death HMECs cel 

         1 MGI mutant phenotype (inferred from 1 allele(MGI details for Dtx2):
     immune system 

    Find genes that share phenotypes with DTX2           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Dtx2tm1Mjb for DTX2

       genOway: Develop your customized and physiologically relevant rodent model for DTX2

    miRNA
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    miRTarBase miRNAs that target DTX2:
    hsa-mir-20a-5p (MIRT050508)

    Block miRNA regulation of human, mouse, rat DTX2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate DTX2 (see all 19):
    hsa-miR-137 hsa-let-7d hsa-miR-202 hsa-miR-25 hsa-let-7c hsa-let-7g hsa-let-7a hsa-miR-92b
    SwitchGear 3'UTR luciferase reporter plasmidDTX2 3' UTR sequence
    Inhib. RNA
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    DTX2_HUMAN, Q86UW9: Cytoplasm. Nucleus. Note=Predominantly cytoplasmic. Partially nuclear
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol2

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IEA--
    GO:0031965nuclear membrane IDA--

    Find genes that share ontologies with DTX2           About GenesLikeMe


    (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).
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    SuperPaths for DTX2 About   (see all 7)  
    See pathways by source

    SuperPathContained pathways About
    1Notch signaling pathway (KEGG)
    Notch signaling pathway0.84
    Notch Signaling Pathway0.84
    2Signaling by NOTCH1 PEST Domain Mutants in Cancer
    Signaling by NOTCH1 PEST Domain Mutants in Cancer0.79
    Signaling by NOTCH1 t(7;9)(NOTCH1-M1580 K2555) Translocation Mutant0.79
    Signaling by NOTCH1 HD Domain Mutants in Cancer0.79
    FBXW7 Mutants and NOTCH1 in Cancer0.79
    Signaling by NOTCH1 in Cancer0.79
    Signaling by NOTCH1 HD+PEST Domain Mutants in Cancer0.79
    Signaling by NOTCH10.79
    Signaling by NOTCH0.64
    3Signaling by NOTCH2
    Activated NOTCH1 Transmits Signal to the Nucleus0.61
    4Signaling by GPCR
    Signal Transduction0.58
    5Wnt / Hedgehog / Notch
    Wnt / Hedgehog / Notch


    Find genes that share SuperPaths with DTX2           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 Cell Signaling Technology (CST) Pathways for DTX2
        Wnt / Hedgehog / Notch
    Protein Stability

    1 BioSystems Pathway for DTX2
        Notch Signaling Pathway

    1 Reactome Pathway for DTX2
        Activated NOTCH1 Transmits Signal to the Nucleus


    1 Kegg Pathway  (Kegg details for DTX2):
        Notch signaling pathway

    UniProtKB/Swiss-Prot: DTX2_HUMAN, Q86UW9
    Pathway: Protein modification; protein ubiquitination

        Pathway & Disease-focused RT2 Profiler PCR Arrays including DTX2: 

              Ubiquitin Ligases in human mouse rat
              Stem Cells in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for DTX2

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

    Selected Interacting proteins for DTX2 (Q86UW91, 2, 3 ENSP000003228854) via UniProtKB, MINT, STRING, and/or I2D (see all 35)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    NCALDP616012, 3, ENSP000002209314MINT-67559 I2D: score=5 STRING: ENSP00000220931
    HPCAL4Q9UM192, 3, ENSP000003619354MINT-66565 I2D: score=4 STRING: ENSP00000361935
    RBPMSQ930622, 3, ENSP000003401764MINT-66077 I2D: score=4 STRING: ENSP00000340176
    RHOXF2Q9BQY42, 3, ENSP000003604414MINT-66536 I2D: score=4 STRING: ENSP00000360441
    VSNL1P627602, 3, ENSP000002951564MINT-66129 I2D: score=4 STRING: ENSP00000295156
    About this table

    Gene Ontology (GO): 2 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007219Notch signaling pathway IEA--
    GO:0016567protein ubiquitination IEA--

    Find genes that share ontologies with DTX2           About GenesLikeMe



    (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)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for DTX2



    (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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for DTX2 gene (4 alternative transcripts): 
    NM_001102594.1  NM_001102595.1  NM_001102596.1  NM_020892.2  

    Unigene Cluster for DTX2:

    Deltex homolog 2 (Drosophila)
    Hs.187058  [show with all ESTs]
    Unigene Representative Sequence: NM_020892
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 22):
    ENST00000425780 ENST00000456590 ENST00000451769 ENST00000324432(uc011kgk.1 uc003uff.4 uc003ufg.4 uc003ufh.4)
    ENST00000492339 ENST00000457529 ENST00000446600(uc003ufl.1) ENST00000413936(uc003ufj.4 uc003ufk.4)
    ENST00000423646 ENST00000438930 ENST00000430490 ENST00000442516 ENST00000429179
    ENST00000435861 ENST00000472426 ENST00000446820 ENST00000467729 ENST00000435251

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    hsa-miR-137 hsa-let-7d hsa-miR-202 hsa-miR-25 hsa-let-7c hsa-let-7g hsa-let-7a hsa-miR-92b
    SwitchGear 3'UTR luciferase reporter plasmidDTX2 3' UTR sequence
    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector (see all 4): DTX2 (NM_001102596)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DTX2
    Primer
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      QuantiFast Probe-based Assays in human, mouse, rat DTX2

    Additional mRNA sequence: 

    AB040961.1 AK023924.1 AK026252.1 AK293226.1 AY225124.1 AY225125.1 BC008856.2 BC013192.1 
    BC018555.1 BC026059.2 BC064535.1 BC093079.1 DQ010329.1 DQ082728.1 DQ082730.1 

    24 DOTS entries:

    DT.100682666  DT.92469716  DT.95192094  DT.95214454  DT.114138  DT.100810678  DT.40239991  DT.100810690 
    DT.100720557  DT.121099383  DT.121099330  DT.121099351  DT.121099373  DT.100810682  DT.100810684  DT.101987018 
    DT.121099342  DT.102834853  DT.121124795  DT.40224247  DT.91713744  DT.91880229  DT.95078662  DT.97860962 

    Selected AceView cDNA sequences (see all 195):

    AI001005 BU542343 AL561485 BI334999 BE672481 BM974787 CB991425 BI769881 
    AW274887 CB992094 CB989696 BQ086180 BM665144 BM837596 BI333802 BQ102509 
    BU145636 CB993822 AA641548 CR604084 AI921688 BM982854 BU616049 AL555691 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for DTX2 (see all 17)    About this scheme

    ExUns: 1a · 1b · 1c · 1d · 1e ^ 2a · 2b · 2c ^ 3 ^ 4a · 4b ^ 5a · 5b · 5c ^ 6 ^ 7a · 7b · 7c · 7d · 7e ^ 8a · 8b · 8c ^ 9a · 9b ^ 10a ·
    SP1:                                                                                                                                                        -   
    SP2:                                -                 -     -     -     -     -     -     -                                                                     
    SP3:                                -                 -     -     -     -                 -                                                                     
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                        -   

    ExUns: 10b ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^ 15
    SP1:                                          
    SP2:                                          
    SP3:                                          
    SP4:                                          
    SP5:        -                                 


    ECgene alternative splicing isoforms for DTX2

    (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)
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    DTX2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    DTX2 Expression
    About this image


    DTX2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 4) fully expand
     
     Ovary (Reproductive System)
             Secondary Oocyte Antral Follicle
     
     Gonad
             Secondary Oocyte Antral Follicle
     
     Blood (Hematopoietic System)
             Granulocytes Peripheral Blood
     
     Eye (Sensory Organs)
             Retina
    DTX2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    DTX2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.187058
        Pathway & Disease-focused RT2 Profiler PCR Arrays including DTX2: 
              Ubiquitin Ligases in human mouse rat
              Stem Cells in human mouse rat

    Primer
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    OriGene qPCR primer pairs and template standards for DTX2
    OriGene qSTAR qPCR primer pairs in human, mouse for DTX2
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat DTX2
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    QuantiFast Probe-based Assays in human, mouse, rat DTX2
    In Situ
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    (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)
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    This gene was present in the common ancestor of animals.

    Orthologs for DTX2 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Dtx21 , 5 deltex 2 homolog (Drosophila)1, 5 83.76(n)1
    84.63(a)1
      5 (75.64 cM)5
    741981  NM_001256096.11  NP_001243025.11 
     1359948005 
    chicken
    (Gallus gallus)
    Aves DTX21 deltex homolog 2 (Drosophila) 66.98(n)
    64.74(a)
      417515  XM_415763.4  XP_415763.3 
    lizard
    (Anolis carolinensis)
    Reptilia DTX26
    deltex homolog 2 (Drosophila)
    56(a)
    1 ↔ 1
    GL343889.1(38092-55820)
    African clawed frog
    (Xenopus laevis)
    Amphibia MGC537372 similar to deltex homolog 2 (Drosophila) 72.65(n)    BC047978.1 
    zebrafish
    (Danio rerio)
    Actinopterygii dtx21 deltex homolog 2 (Drosophila) 65.83(n)
    64.22(a)
      568626  NM_001127307.1  NP_001120779.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta dx6
    deltex
    23(a)
    1 → many
    X(6428043-6432615)


    ENSEMBL Gene Tree for DTX2 (if available)
    TreeFam Gene Tree for DTX2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for DTX2 gene
    DTX12  DTX42  DTX3L2  DTX32  
    3 SIMAP similar genes for DTX2 using alignment to 16 protein entries:     DTX2_HUMAN (see all proteins):
    DTX1    DTX4    DTX3

    Find genes that share paralogs with DTX2           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for DTX2
    PGOHUM00000250953


    (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)
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    Selected SNPs for DTX2 (see all 480)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs3721639381,2
    C--76089091(+) CCCCAC/TCTCCT 3 -- us2k10--------
    rs1999236541,2
    C--76089465(+) TCTTTA/CTTTTC 3 -- us2k10--------
    rs284377961,2
    C--76089647(+) ACACCC/TAGTTA 3 -- us2k1 tfbs30--------
    rs132369171,2
    C--76089671(+) ttattT/Attttt 3 -- us2k12Minor allele frequency- A:0.25NA 4
    rs624756251,2
    C--76089963(+) CCCGGA/CCTCCA 3 -- us2k10--------
    rs2021091591,2
    C--76090551(+) GAGAGA/TAAAAA 3 -- us2k10--------
    rs1472995551,2
    C--76092361(+) CATGGC/GCGACA 3 -- int10--------
    rs1420372911,2
    C--76092407(+) AAACT-/AAAAAAAC 3 -- int10--------
    rs1412349801,2
    C--76093562(+) CAGTCA/GCCTGG 3 -- int10--------
    rs1488612291,2
    C--76093566(+) CACCT-/GGGAGA 3 -- int10--------

    HapMap Linkage Disequilibrium report for DTX2 (76090972 - 76135312 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for DTX2 (see all 37):    About this table    
    Variant IDTypeSubtypePubMed ID
    dgv120n16CNV Deletion17901297
    esv2734687CNV Deletion23290073
    dgv1218e199CNV Deletion23128226
    dgv21n31CNV Duplication19718026
    esv2422494CNV Duplication17116639
    nsv471446CNV Duplication19718026
    nsv509211CNV Insertion20534489
    dgv121n16CNV Insertion17901297
    dgv233e55CNV Loss17911159
    dgv235e55CNV Loss17911159

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing DTX2
    DNA2.0 Custom Variant and Variant Library Synthesis for DTX2

    (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.)
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    OMIM gene information: 613141    OMIM disorders: --


    Find genes that share disorders with DTX2           About GenesLikeMe


    Export disorders for DTX2 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)
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    PubMed articles for DTX2 gene, integrated from 10 sources (see all 26):
    (articles sorted by number of sources associating them with DTX2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The BAL-binding protein BBAP and related Deltex family members exhibit ubiquitin-protein isopeptide ligase activity. (PubMed id 12670957)1, 2, 3, 9 Takeyama K.... Shipp M.A. (J. Biol. Chem. 2003)
    2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    4. The DNA sequence of human chromosome 7. (PubMed id 12853948)1, 2 Hillier L.W.... Wilson R.K. (Nature 2003)
    5. Role of Deltex-1 as a transcriptional regulator downstream of the Notch receptor. (PubMed id 11564735)1, 2 Yamamoto N....Nakafuku M. (J. Biol. Chem. 2001)
    6. Prediction of the coding sequences of unidentified human genes. XVII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10819331)1, 2 Nagase T.... Ohara O. (DNA Res. 2000)
    7. cDNA cloning, characterization and expression analysis of DTX2, a human WWE and RING-finger gene, in human embryos. (PubMed id 17286044)1, 9 Yi Z....Wu Z. (DNA Seq. 2006)
    8. Charting the landscape of tandem BRCT domain-mediated protein interactions. (PubMed id 22990118)1 Woods N.T....Monteiro A.N. (Sci Signal 2012)
    9. Systems-wide analysis of ubiquitylation dynamics reveals a key role for PAF15 ubiquitylation in DNA-damage bypass. (PubMed id 23000965)1 Povlsen L.K....Choudhary C. (Nat. Cell Biol. 2012)
    10. A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (amp 2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 113878 HGNC: 15973 AceView: DTX2 Ensembl:ENSG00000091073 euGenes: HUgn113878
    ECgene: DTX2 Kegg: 113878 H-InvDB: DTX2

    (According to HUGE)
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    HUGE: KIAA1528

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for DTX2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for DTX2 gene:
    Search GeneIP for patents involving DTX2

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



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