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

DEF6 Gene

protein-coding   GIFtS: 60
GCID: GC06P035265

Differentially Expressed In FDCP 6 Homolog (Mouse)

(Previous name: differentially expressed in FDCP (mouse homolog) 6)
  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
Differentially Expressed In FDCP 6 Homolog (Mouse)1 2     Differentially Expressed In FDCP (Mouse Homolog) 61
SWAP-70-Like Adaptor Protein Of T Cells1 2     SLAT2
DEF-62 3     SWAP70L2
IBP2 3     Differentially Expressed In FDCP 6 Homolog2
IRF4-Binding Protein2 3     

External Ids:    HGNC: 27601   Entrez Gene: 506192   Ensembl: ENSG000000238927   OMIM: 6100945   UniProtKB: Q9H4E73   

Export aliases for DEF6 gene to outside databases

Previous GC identifers: GC06P035267 GC06P035313 GC06P035314 GC06P035373 GC06P034986


(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 DEF6 Gene:
DEF6, or IBP, is a guanine nucleotide exchange factor (GEF) for RAC (MIM 602048) and CDC42 (MIM 116952) that is
highly expressed in B and T cells (Gupta et al., 2003 (PubMed 12923183)).(supplied by OMIM, Mar 2008)

GeneCards Summary for DEF6 Gene: 
DEF6 (differentially expressed in FDCP 6 homolog (mouse)) is a protein-coding gene. Diseases associated with DEF6 include meningioma, and colorectal cancer, and among its related super-pathways are G-protein signaling Regulation of RAC1 activity and G-protein signaling Regulation of CDC42 activity. GO annotations related to this gene include phospholipid binding. An important paralog of this gene is SWAP70.

UniProtKB/Swiss-Prot: DEFI6_HUMAN, Q9H4E7
Function: Phosphatidylinositol 3,4,5-trisphosphate-dependent guanine nucleotide exchange factor (GEF) which plays
a role in the activation of Rho GTPases RAC1, RhoA and CDC42. Can regulate cell morphology in cooperation with
activated RAC1. Plays a role in Th2 (T helper cells) development and/or activation, perhaps by interfering with
ZAP70 signaling (By similarity)

Gene Wiki entry for DEF6 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000006.11  NC_018917.2  NT_007592.15  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the DEF6 gene promoter:
         ER-alpha   RFX1   MyoD   POU3F2 (N-Oct-5b)   POU3F2 (N-Oct-5a)   AP-4   POU3F2   AREB6   POU2F1   POU2F1a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidDEF6 promoter sequence
   Search SABiosciences Chromatin IP Primers for DEF6

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DEF6


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

Entrez Gene cytogenetic band: 6p21.33-p21.1   Ensembl cytogenetic band:  6p21.31   HGNC cytogenetic band: 6p21.33-p21.1

DEF6 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DEF6 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06P035265:  view genomic region     (about GC identifiers)

Start:
35,265,595 bp from pter      End:
35,289,548 bp from pter
Size:
23,954 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: DEFI6_HUMAN, Q9H4E7 (See protein sequence)
Recommended Name: Differentially expressed in FDCP 6 homolog  
Size: 631 amino acids; 73910 Da
Subunit: Interacts with ZAP70 (By similarity). Interacts with IRF4, activated RAC1 and F-actin. Both the
phosphorylated and non-phosphorylated forms bind phosphatidylinositol 3,4,5-trisphosphate (PtdInsP3)
Subcellular location: Cytoplasm. Cell membrane. Nucleus. Note=Recruited to the plasma membrane upon binding
phosphatidylinositol 3,4,5-trisphosphate
Secondary accessions: Q86VF4

Explore the universe of human proteins at neXtProt for DEF6: NX_Q9H4E7

Explore proteomics data for DEF6 at MOPED 

Post-translational modifications:

  • UniProtKB: Tyrosine-phosphorylated by tyrosine-protein kinase LCK in response to T-cell activation
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9H4E7

  • DEF6 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    DEF6 Protein Expression
    REFSEQ proteins: NP_071330.3  
    ENSEMBL proteins: 
     ENSP00000319831   ENSP00000415357   ENSP00000442166  

    Human Recombinant Protein Products for DEF6: 
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    OriGene Purified Protein for DEF6
    OriGene Protein Over-expression Lysate for DEF6
    OriGene MassSpec for DEF6 
    OriGene Custom Protein Services for DEF6
    GenScript Custom Purified and Recombinant Proteins Services for DEF6
    Novus Biologicals DEF6 Protein
    Novus Biologicals DEF6 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for DEF6 

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IEA--
    GO:0005886plasma membrane IEA--

    DEF6 for ontologies           About GeneDecksing



    DEF6 Antibody Products: 
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    Cloud-Clone Corp. Antibodies for DEF6 
    ThermoFisher Antibodies for DEF6
    LSBio Antibodies in human, mouse, rat for DEF6 

    Assay Products for DEF6: 
    Browse Kits and Assays available from EMD Millipore
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    GenScript Custom Assay Services for DEF6
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for DEF6 
    Cloud-Clone Corp. CLIAs for DEF6


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    PLEKH: Pleckstrin homology (PH) domain containing

    2 InterPro protein domains:
     IPR001849 Pleckstrin_homology
     IPR011993 PH_like_dom

    Graphical View of Domain Structure for InterPro Entry Q9H4E7

    ProtoNet protein and cluster: Q9H4E7

    1 Blocks protein domain: IPB001849 Pleckstrin-like

    UniProtKB/Swiss-Prot: DEFI6_HUMAN, Q9H4E7
    Domain: The PH domain is essential for phosphatidylinositol 3,4,5-trisphosphate binding
    Similarity: Contains 1 PH domain


    DEF6 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: DEFI6_HUMAN, Q9H4E7
    Function: Phosphatidylinositol 3,4,5-trisphosphate-dependent guanine nucleotide exchange factor (GEF) which plays
    a role in the activation of Rho GTPases RAC1, RhoA and CDC42. Can regulate cell morphology in cooperation with
    activated RAC1. Plays a role in Th2 (T helper cells) development and/or activation, perhaps by interfering with
    ZAP70 signaling (By similarity)

         Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
    GO:0005543phospholipid binding IEA--
         
    DEF6 for ontologies           About GeneDecksing


    Phenotypes:
         3 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Def6):
     cellular  hematopoietic system  immune system 

    DEF6 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for DEF6 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for DEF6

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for DEF6 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for DEF6 

    miRNA
    Products:
        
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat DEF6
    4 QIAGEN miScript miRNA Assays for microRNAs that regulate DEF6:
    hsa-miR-4328 hsa-miR-593* hsa-miR-513c hsa-miR-514b-5p
    SwitchGear 3'UTR luciferase reporter plasmidDEF6 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for DEF6
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat DEF6

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for DEF6
    Sirion Biotech Customized adenovirus for overexpression of DEF6

    Clone
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    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene clones in human, mouse for DEF6 (see all 7)
    OriGene ORF clones in mouse, rat for DEF6
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: DEF6 (NM_022047)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for DEF6
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DEF6
    Sirion Biotech Customized lentivirus for stable overexpression of DEF6 
                         Customized lentivirus expression plasmids for stable overexpression of DEF6 

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    Search LifeMap BioReagents cell lines for DEF6
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DEF6


    (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

    SuperPaths for DEF6 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1G-protein signaling Regulation of RAC1 activity
    G-protein signaling Regulation of RAC1 activity0.88
    2G-protein signaling Regulation of CDC42 activity
    G-protein signaling Regulation of CDC42 activity1.00
    3Regulation of RhoA activity
    Regulation of RhoA activity
    4Regulation of RAC1 activity
    Regulation of RAC1 activity

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 EMD Millipore Pathways for DEF6
        G-protein signaling Regulation of CDC42 activity
    G-protein signaling Regulation of RAC1 activity


    2 GeneGo (Thomson Reuters) Pathways for DEF6
        G-protein signaling Regulation of RAC1 activity
    G-protein signaling Regulation of CDC42 activity

    2 BioSystems Pathways for DEF6
        Regulation of RhoA activity
    Regulation of RAC1 activity



    DEF6 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for DEF6

    STRING Interaction Network Preview (showing 5 interactants - click image to see 11)

    5/12 Interacting proteins for DEF6 (Q9H4E72, 3 ENSP000003198314) via UniProtKB, MINT, STRING, and/or I2D (see all 12)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    BEGAINQ9BUH82, 3, ENSP000003473014MINT-66649 I2D: score=5 STRING: ENSP00000347301
    RAC2P151533, ENSP000002490714I2D: score=3 STRING: ENSP00000249071
    RHOAP615863, ENSP000004001754I2D: score=3 STRING: ENSP00000400175
    LCKP062393, ENSP000003378254I2D: score=1 STRING: ENSP00000337825
    ZAP70P434033, ENSP000002649724I2D: score=1 STRING: ENSP00000264972
    About this table

    (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 DEF6 (DEFI6)

    3 HMDB Compounds for DEF6    About this table
    CompoundSynonyms CAS #PubMed Ids
    Guanosine diphosphate5'-GDP (see all 10)146-91-8--
    Guanosine monophosphate5'-GMP (see all 14)85-32-5--
    Guanosine triphosphate5'-GTP (see all 10)86-01-1--

    Search CenterWatch for drugs/clinical trials and news about DEF6 / DEFI6

    (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 DEF6 gene: 
    NM_022047.3  

    Unigene Cluster for DEF6:

    Differentially expressed in FDCP 6 homolog (mouse)
    Hs.15476  [show with all ESTs]
    Unigene Representative Sequence: AY241694
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000316637(uc003okk.3 uc010jvs.3) ENST00000444278 ENST00000468102
    ENST00000542066(uc010jvt.3)
    miRNA
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat DEF6
    4 QIAGEN miScript miRNA Assays for microRNAs that regulate DEF6:
    hsa-miR-4328 hsa-miR-593* hsa-miR-513c hsa-miR-514b-5p
    SwitchGear 3'UTR luciferase reporter plasmidDEF6 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for DEF6
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat DEF6
    Clone
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    OriGene clones in human, mouse for DEF6 (see all 7)
    OriGene ORF clones in mouse, rat for DEF6
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: DEF6 (NM_022047)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for DEF6
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DEF6
    Sirion Biotech Customized lentivirus for stable overexpression of DEF6 
                         Customized lentivirus expression plasmids for stable overexpression of DEF6 
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for DEF6
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat DEF6
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat DEF6
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat DEF6

    Additional mRNA sequence: 

    AJ276095.1 AK093613.1 AK314756.1 AL110182.1 AY241694.1 BC007702.2 BC017504.1 

    8 DOTS entries:

    DT.413376  DT.92023911  DT.92029724  DT.100788864  DT.121333468  DT.100788867  DT.91995641  DT.95149917 

    24/124 AceView cDNA sequences (see all 124):

    BX379958 BC007702 BP428529 BE880393 CR624997 BU155374 AJ276095 BX398963 
    BU838961 BQ682207 NM_022047 BX398587 AY241694 AK093613 BX382612 BX097622 
    AI650482 BE731159 CA416465 BM194036 BF934858 BQ893321 BG059193 CD368266 

    GeneLoc Exon Structure

    5/10 Alternative Splicing Database (ASD) splice patterns (SP) for DEF6 (see all 10)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2a · 2b · 2c ^ 3a · 3b · 3c ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14
    SP1:                                -                                               -     -                                             
    SP2:                                -     -     -     -                             -     -                                             
    SP3:                                                                                -     -                                             
    SP4:                                                                                                                                    
    SP5:                                -                                                                                                   


    ECgene alternative splicing isoforms for DEF6

    (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

    DEF6 expression in normal human tissues (normalized intensities)      DEF6 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GGAGCTGTCT
    DEF6 Expression
    About this image


    DEF6 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/6 selected tissues (see all 6) fully expand
     
     Tonsil (Hematopoietic System)    fully expand to see all 2 entries
             tonsil ; non-germinal center cells   
     
     Blood (Hematopoietic System)    fully expand to see all 2 entries
             pbmc   
     
     Lymph (Hematopoietic System)    fully expand to see all 2 entries
             lymph node ; non-germinal center cells   
     
     Spleen (Hematopoietic System)    fully expand to see all 2 entries
             spleen ; cells in white pulp   
     
     Thymus (Hematopoietic System)
             Thymus

    See DEF6 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for DEF6

    SOURCE GeneReport for Unigene cluster: Hs.15476

    UniProtKB/Swiss-Prot: DEFI6_HUMAN, Q9H4E7
    Tissue specificity: Broadly expressed in the immune system and can be detected in T and B-cells

        SABiosciences Custom PCR Arrays for DEF6
    Primer
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    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat DEF6
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat DEF6
    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat DEF6
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DEF6

    (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 animals.

    Orthologs for DEF6 gene from 6/13 species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Def61 , 5 differentially expressed in FDCP 61, 5 88.62(n)1
    92.54(a)1
      17 (14.64 cM)5
    238531  NM_027185.31  NP_081461.21 
     282077785 
    chicken
    (Gallus gallus)
    Aves DEF61 differentially expressed in FDCP 6 homolog (mouse) 75.38(n)
    76.63(a)
      419893  XM_418019.3  XP_418019.2 
    lizard
    (Anolis carolinensis)
    Reptilia DEF66
    differentially expressed in FDCP 6 homolog (mouse)...
    64(a)
    1 ↔ 1
    4(120554045-120621560)
    African clawed frog
    (Xenopus laevis)
    Amphibia MGC687752 hypothetical protein MGC68775 74.64(n)    BC060433.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc637212 similar to differentially expressed in FDCP 6 77.54(n)   394015  BC054935.1 
    mosquito
    (Anopheles gambiae)
    Insecta AgaP_AGAP0123321 AGAP012332-PA 49.62(n)
    32.3(a)
      4577474  XM_001238271.2  XP_001238272.2 


    ENSEMBL Gene Tree for DEF6 (if available)
    TreeFam Gene Tree for DEF6 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for DEF6 gene
    SWAP702  
    2 SIMAP similar genes for DEF6 using alignment to 4 protein entries:     DEFI6_HUMAN (see all proteins):
    SWAP70    PHLDB1

    DEF6 for paralogs           About GeneDecksing



    (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

    10/504 SNPs in DEF6 are shown (see all 504)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1420237351,2
    C--35264450(+) TGGTGG/TTGCCT 1 -- us2k10--------
    rs1854180481,2
    --35264497(+) CCCTTC/TCTGCC 1 -- us2k10--------
    rs1905696791,2
    --35264640(+) CAGCAC/TCTTAC 1 -- us2k10--------
    rs1809829641,2
    C--35264671(+) CTTAGC/GGGGTA 1 -- us2k10--------
    rs1850543971,2
    C--35264680(+) TAGGGA/GGAGGT 1 -- us2k10--------
    rs1457880611,2
    --35264798(+) ACATGA/GAGGGC 1 -- us2k10--------
    rs1886942891,2
    --35264827(+) TGCTGC/TTGGGA 1 -- us2k10--------
    rs737451821,2
    C,F--35264828(+) GCTGCT/CGGGAC 1 -- us2k12Minor allele frequency- C:0.05WA 120
    rs1810481881,2
    --35264850(+) AGGTGC/GACCAC 1 -- us2k10--------
    rs1858710251,2
    --35264981(+) CAAGTA/GCCACA 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for DEF6 (35265595 - 35289548 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for DEF6:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv528424CNV Loss19592680
    nsv830641CNV Loss17160897
    dgv1939e1CNV Complex17122850

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    (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: 610094    OMIM disorders: --

    4 diseases for DEF6:    About MalaCards
    meningioma    colorectal cancer    breast cancer    leukemia


    DEF6 for disorders           About GeneDecksing

    Genetic Association Database (GAD): DEF6
    Human Genome Epidemiology (HuGE) Navigator: DEF6 (9 documents)

    Export disorders for DEF6 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 DEF6 gene, integrated from 9 sources (see all 24):
    (articles sorted by number of sources associating them with DEF6)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular cloning of IBP, a SWAP-70 homologous GEF, which is highly expressed in the immune system. (PubMed id 12651066)1, 2, 9 Gupta S....Pernis A.B. (2003)
    2. The role of height-associated loci identified in geno me wide association studies in the determination of pediatric stature. (PubMed id 20546612)1, 4 Zhao J....Grant S.F. (2010)
    3. Polymorphisms in innate immunity genes and risk of ch ildhood leukemia. (PubMed id 20438785)1, 4 Han S....Kang D. (2010)
    4. Risk of meningioma and common variation in genes rela ted to innate immunity. (PubMed id 20406964)1, 4 Rajaraman P....Inskip P.D. (2010)
    5. Adaptor protein SLAT modulates Fcgamma receptor-mediated phagocytosis in murine macrophages. (PubMed id 19251698)1, 3 Mehta H....Coggeshall K.M. (2009)
    6. Many sequence variants affecting diversity of adult human height. (PubMed id 18391951)1, 4 Gudbjartsson D.F....Stefansson K. (2008)
    7. Cooperation of DEF6 with activated Rac in regulating cell morphology. (PubMed id 17121847)1, 2 Oka T.... Fukui Y. (2007)
    8. DEF6, a novel PH-DH-like domain protein, is an upstream activator of the Rho GTPases Rac1, Cdc42, and RhoA. (PubMed id 15023524)1, 2 Mavrakis K.J.... Sablitzky F. (2004)
    9. T cell receptor engagement leads to the recruitment of IBP, a novel guanine nucleotide exchange factor, to the immunological synapse. (PubMed id 12923183)1, 2 Gupta S.... Pernis A.B. (2003)
    10. The ectopic expression of IFN regulatory factor 4-bin ding protein is correlated with the malignant behavior of human breast cancer c ells. (PubMed id 19393345)1, 9 Li P....Hu C. (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: 50619 HGNC: 2760 AceView: DEF6 Ensembl:ENSG00000023892 euGenes: HUgn50619
    ECgene: DEF6 H-InvDB: DEF6

    (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 DEF6 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 DEF6 gene:
    Search GeneIP for patents involving DEF6

    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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