Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 



DEF8 Gene

protein-coding   GIFtS: 47
GCID: GC16P090015

Differentially Expressed In FDCP 8 Homolog (Mouse)

  Search for DEF8
at  

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

TryGeneCards Plus

Aliases
Differentially Expressed In FDCP 8 Homolog (Mouse)1 2
DEF-82 3
Differentially Expressed In FDCP 8 Homolog2

External Ids:    HGNC: 259691   Entrez Gene: 548492   Ensembl: ENSG000001409957   UniProtKB: Q6ZN543   

Export aliases for DEF8 gene to outside databases

Previous GC identifers: GC16P088543 GC16P075708


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

TryGeneCards Plus

GeneCards Summary for DEF8 Gene:
DEF8 (differentially expressed in FDCP 8 homolog (mouse)) is a protein-coding gene. An important paralog of this gene is PLEKHM3.


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

TryGeneCards Plus
RefSeq DNA sequence at NCBI GenBank:
NC_000016.9  NT_010498.16  NC_018927.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the DEF8 gene promoter:
         CREB   Elk-1   Tal-1beta   C/EBPalpha   E47   Evi-1   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for DEF8

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat DEF8


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

Entrez Gene cytogenetic band: 16q24.3   Ensembl cytogenetic band:  16q24.3   HGNC cytogenetic band: 16q24.3

DEF8 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DEF8 gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16P090015:  view genomic region     (about GC identifiers)

Start:
90,014,333 bp from pter      End:
90,034,468 bp from pter
Size:
20,136 bases      Orientation:
plus strand

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

TryGeneCards Plus

UniProtKB/Swiss-Prot: DEFI8_HUMAN, Q6ZN54 (See protein sequence)
Recommended Name: Differentially expressed in FDCP 8 homolog  
Size: 512 amino acids; 58710 Da
Sequence caution: Sequence=BAC04802.1; Type=Miscellaneous discrepancy; Note=Unlikely isoform. Aberrant splice
sites; Sequence=BAG64541.1; Type=Miscellaneous discrepancy; Note=Unlikely isoform. Aberrant splice sites;
Secondary accessions: B3KT65 B4DK62 B4E0S9 B7Z3H6 H3BUG7 Q8N8N3 Q9NXL0
Alternative splicing: 6 isoforms:  Q6ZN54-1   Q6ZN54-2   Q6ZN54-3   Q6ZN54-4   Q6ZN54-5   Q6ZN54-6   (No experimental confirmation available. Gene prediction based on cDNA data)

Explore the universe of human proteins at neXtProt for DEF8: NX_Q6ZN54

Explore proteomics data for DEF8 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See DEF8 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (9 alternative transcripts): 
    NP_001229745.1  NP_001229746.1  NP_001229747.1  NP_001229748.1  NP_001229749.1  NP_001229750.1  NP_001229751.1  NP_060172.1  
    NP_997397.1  

    ENSEMBL proteins: 
     ENSP00000458019   ENSP00000457072   ENSP00000456954   ENSP00000455654   ENSP00000455783  
     ENSP00000454534   ENSP00000457309   ENSP00000268676   ENSP00000455987   ENSP00000456501  
     ENSP00000456157   ENSP00000454478   ENSP00000412784   ENSP00000456706   ENSP00000456095  
     ENSP00000456799   ENSP00000457627   ENSP00000454930  

    DEF8 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein for DEF8
    OriGene Protein Over-expression Lysate for DEF8
    OriGene Custom MassSpec
    OriGene Custom Protein Services for DEF8
    GenScript Custom Purified and Recombinant Proteins Services for DEF8
    Novus Biologicals DEF8 Protein
    Novus Biologicals DEF8 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for DEF8

     
    Search eBioscience for Proteins for DEF8 

    DEF8 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    OriGene Antibodies for DEF8
    OriGene Custom Antibody Services for DEF8
    Novus Biologicals DEF8 Antibodies
    Abcam antibodies for DEF8
    Cloud-Clone Corp. Antibodies for DEF8
    Search ThermoFisher Antibodies for DEF8
    LSBio Antibodies in human, mouse, rat for DEF8

    DEF8 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for DEF8
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for DEF8
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for DEF8
    Cloud-Clone Corp. CLIAs for DEF8
    Search eBioscience for ELISAs for DEF8 


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

    TryGeneCards Plus
    3 InterPro protein domains:
     IPR001841 Znf_RING
     IPR025258 DUF4206
     IPR002219 Prot_Kinase_C-like_PE/DAG-bd

    Graphical View of Domain Structure for InterPro Entry Q6ZN54

    ProtoNet protein and cluster: Q6ZN54

    UniProtKB/Swiss-Prot: DEFI8_HUMAN, Q6ZN54
    Similarity: Belongs to the DEF8 family
    Similarity: Contains 2 phorbol-ester/DAG-type zinc fingers


    Find genes that share domains with DEF8           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, 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.)
    About This Section

    TryGeneCards Plus

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008270zinc ion binding IEA--
         
    Find genes that share ontologies with DEF8           About GenesLikeMe


    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for DEF8
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for DEF8

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for DEF8
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for DEF8

    miRNA
    Products:
        
    miRTarBase miRNAs that target DEF8:
    hsa-mir-1303 (MIRT035878), hsa-mir-331-3p (MIRT043288), hsa-mir-324-5p (MIRT043241)

    Block miRNA regulation of human, mouse, rat DEF8 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate DEF8 (see all 17):
    hsa-miR-106a hsa-miR-15a hsa-miR-29c hsa-miR-29a hsa-miR-424 hsa-miR-93 hsa-miR-195 hsa-miR-526b*
    SwitchGear 3'UTR luciferase reporter plasmidDEF8 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for DEF8
    Predesigned siRNA for gene silencing in human, mouse, rat DEF8

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for DEF8

    Clone
    Products:
         
    OriGene clones in human, mouse for DEF8 (see all 12)
    OriGene ORF clones in mouse, rat for DEF8
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): DEF8 (NM_017702)
    Sino Biological Human cDNA Clone for DEF8
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for DEF8
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DEF8

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for DEF8
    Browse ESI BIO Cell Lines and PureStem Progenitors for DEF8 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DEF8


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

    TryGeneCards Plus

    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol2
    mitochondrion2
    nucleus1
    peroxisome1

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

    TryGeneCards Plus




        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for DEF8
    Interactions:

        Search GeneGlobe Interaction Network for DEF8

    STRING Interaction Network Preview (showing 5 interactants - click image to see 10)

    Selected Interacting proteins for DEF8 (Q6ZN543 ENSP000002686764) via UniProtKB, MINT, STRING, and/or I2D (see all 11)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    STK3Q131883I2D: score=5 
    RASSF8Q8NHQ83I2D: score=4 
    PLEKHM1ENSP000004143524STRING: ENSP00000414352 STRING: ENSP00000389913
    SQSTM1ENSP000003744554STRING: ENSP00000374455
    NDE1ENSP000003458924STRING: ENSP00000345892
    About this table

    Gene Ontology (GO): 1 biological process term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0035556intracellular signal transduction IEA--

    Find genes that share ontologies with DEF8           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)
    About This Section

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

    Browse Tocris compounds for DEF8 (DEFI8)

    Selected HMDB Compounds for DEF8 (see all 843)    About this table
    CompoundSynonyms CAS #PubMed Ids
    DG(14:0/14:0/0:0)DAG(14:0/14:0) (see all 9)----
    DG(14:0/14:1(9Z)/0:0)DAG(14:0/14:1) (see all 15)----
    DG(14:0/15:0/0:0)Diacylglycerol(29:0) (see all 9)----
    DG(14:0/16:0/0:0)DAG(30:0) (see all 9)----
    DG(14:0/16:1(9Z)/0:0)DG(30:1) (see all 15)----
    DG(14:0/18:0/0:0)DG(14:0/18:0) (see all 9)----
    DG(14:0/18:1(11Z)/0:0)Diacylglycerol (see all 15)----
    DG(14:0/18:1(9Z)/0:0)1-myristoyl-2-oleoyl-sn-glycerol (see all 15)----
    DG(14:0/18:2(9Z,12Z)/0:0)DAG(14:0/18:2n6) (see all 15)----
    DG(14:0/18:3(6Z,9Z,12Z)/0:0)Diacylglycerol(14:0/18:3n6) (see all 16)----



    (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 )
    About This Section

    TryGeneCards Plus

    REFSEQ mRNAs for DEF8 gene (9 alternative transcripts): 
    NM_001242816.1  NM_001242817.1  NM_001242818.1  NM_001242819.1  NM_001242820.1  NM_001242821.1  NM_001242822.1  NM_017702.3  
    NM_207514.2  

    Unigene Cluster for DEF8:

    Differentially expressed in FDCP 8 homolog (mouse)
    Hs.62771  [show with all ESTs]
    Unigene Representative Sequence: NM_001242820
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 27):
    ENST00000563594(uc002fpo.2 uc002fpp.2 uc021tmv.1 uc010vpq.2)
    ENST00000567999 ENST00000566079 ENST00000561784 ENST00000566820 ENST00000562578
    ENST00000561741 ENST00000268676(uc002fpn.2 uc010vpr.2 uc002fpq.2)
    ENST00000562986 ENST00000569453 ENST00000568096 ENST00000567243 ENST00000567884
    ENST00000569803 ENST00000569061 ENST00000418391(uc021tmu.1 uc002fpl.3 uc002fpm.3)
    ENST00000561959 ENST00000567874
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat DEF8 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate DEF8 (see all 17):
    hsa-miR-106a hsa-miR-15a hsa-miR-29c hsa-miR-29a hsa-miR-424 hsa-miR-93 hsa-miR-195 hsa-miR-526b*
    SwitchGear 3'UTR luciferase reporter plasmidDEF8 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for DEF8
    Predesigned siRNA for gene silencing in human, mouse, rat DEF8
    Clone
    Products:
         
    OriGene clones in human, mouse for DEF8 (see all 12)
    OriGene ORF clones in mouse, rat for DEF8
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): DEF8 (NM_017702)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for DEF8
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DEF8
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for DEF8
    OriGene qSTAR qPCR primer pairs in human, mouse for DEF8
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat DEF8
      QuantiTect SYBR Green Assays in human, mouse, rat DEF8
      QuantiFast Probe-based Assays in human, mouse, rat DEF8

    Additional mRNA sequence: 

    AF289561.1 AK000193.1 AK055099.1 AK095051.1 AK096485.1 AK131370.1 AK225539.1 AK295880.1 
    AK296410.1 AK303510.1 AL157465.1 BC015482.2 BC105592.1 BC106751.1 BC130482.1 BC144038.1 

    Selected DOTS entries (see all 30):

    DT.99938906  DT.95373755  DT.412352  DT.120720774  DT.412691  DT.120720982  DT.95165855  DT.120721056 
    DT.100795531  DT.100795530  DT.120721072  DT.100795529  DT.120720542  DT.40306267  DT.100661029  DT.100795532 
    DT.120720491  DT.95242708  DT.120721115  DT.120720956  DT.424065  DT.100795534  DT.120720538  DT.120720679 

    Selected AceView cDNA sequences (see all 235):

    BG758794 BQ057163 CK430965 CA424457 AU280037 BG748112 AA303766 BM994294 
    BQ059883 AK000193 BP360714 CD370420 CB138725 AL535887 NM_017702 CB216216 
    BI916283 CK904170 CK724946 BU538670 CB852465 BX283856 BG686273 BQ010409 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for DEF8 (see all 6)    About this scheme

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


    ECgene alternative splicing isoforms for DEF8

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

    TryGeneCards Plus

    DEF8 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GGACCAGGCT
    DEF8 Expression
    About this image


    DEF8 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     
     Blood (Hematopoietic System)
             Granulocytes Peripheral Blood
    DEF8 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    DEF8 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.62771
        Custom PCR Arrays for DEF8
    Primer
    Products:
    OriGene qPCR primer pairs and template standards for DEF8
    OriGene qSTAR qPCR primer pairs in human, mouse for DEF8
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat DEF8
    QuantiTect SYBR Green Assays in human, mouse, rat DEF8
    QuantiFast Probe-based Assays in human, mouse, rat DEF8
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DEF8

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

    TryGeneCards Plus

    This gene was present in the common ancestor of animals.

    Orthologs for DEF8 gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Def81 , 5 differentially expressed in FDCP 81, 5 87.7(n)1
    93.01(a)1
      8 (72.10 cM)5
    238541  NM_001253783.11  NP_001240712.11 
     1234429865 
    chicken
    (Gallus gallus)
    Aves DEF81 differentially expressed in FDCP 8 homolog (mouse) 84.28(n)
    88.4(a)
      769452  XM_001232733.3  XP_001232734.3 
    lizard
    (Anolis carolinensis)
    Reptilia DEF86
    differentially expressed in FDCP 8 homolog (mouse)...
    80(a)
    1 ↔ 1
    GL343866.1(112286-119828)
    African clawed frog
    (Xenopus laevis)
    Amphibia def8-prov2 differentially expressed in FDCP 8 78.26(n)    BC056097.1 
    zebrafish
    (Danio rerio)
    Actinopterygii def81 differentially expressed in FDCP 8 homolog (mouse) 70.57(n)
    72.83(a)
      492523  NM_001007395.1  NP_001007396.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG115341 CG11534 49.49(n)
    39.06(a)
      39381  NM_140292.3  NP_648549.1 
    worm
    (Caenorhabditis elegans)
    Secernentea F20H11.16
    Protein F20H11.1 (F20H11.1) mRNA, complete cds
    27(a)
    1 ↔ 1
    III(6589373-6592175) WBGene00017646


    ENSEMBL Gene Tree for DEF8 (if available)
    TreeFam Gene Tree for DEF8 (if available)

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

    TryGeneCards Plus
    Paralogs for DEF8 gene
    PLEKHM32  KIAA02262  KIAA0226L2  PLEKHM12  

    Find genes that share paralogs with DEF8           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for DEF8
    PGOHUM00000262363


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

    TryGeneCards Plus

    Selected SNPs for DEF8 (see all 597)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1129183341,2
    C,F--90013166(+) CTGGCT/CTGTTG 8 -- us2k12Minor allele frequency- C:0.05CSA WA 120
    rs284791821,2
    C,F--90013178(+) GGAGAC/GGAGCC 8 -- us2k14Minor allele frequency- G:0.23NA WA 124
    rs1156935701,2
    F--90013197(+) AAGGTG/AGGGGT 8 -- us2k11Minor allele frequency- A:0.07WA 118
    rs99318701,2
    C,A--90013218(+) CTGGCC/TTGTTG 8 -- us2k10--------
    rs99312591,2
    C,A--90013230(+) GGAGAC/GGAGCC 8 -- us2k1 trp30--------
    rs133350911,2
    C,F--90013255(+) GGGGCC/TGACTT 8 -- us2k16Minor allele frequency- T:0.26WA CSA NA EA 363
    rs620522211,2
    C,F--90013420(+) GCGGCG/AGCTCA 8 -- us2k16Minor allele frequency- A:0.10WA CSA NA EA 364
    rs1487422711,2
    --90013464(+) GGACAC/TGGCGT 8 -- us2k10--------
    rs584134601,2
    C,F--90013467(+) CACGGC/TGTCCG 8 -- us2k12Minor allele frequency- T:0.16WA 120
    rs732779141,2
    C--90013504(+) TCACTG/CCACCC 8 -- us2k14Minor allele frequency- C:0.11WA NA EA 360

    HapMap Linkage Disequilibrium report for DEF8 (90014333 - 90034468 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10 variations for DEF8:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv509640CNV Insertion20534489
    dgv3009n71CNV Loss21882294
    nsv907433CNV Loss21882294
    nsv907445CNV Loss21882294
    nsv907429CNV Loss21882294
    nsv907443CNV Loss21882294
    dgv3015n71CNV Loss21882294
    nsv471119CNV Loss18288195
    nsv457626CNV Loss19166990
    nsv428331CNV Gain+Loss18775914

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing DEF8
    DNA2.0 Custom Variant and Variant Library Synthesis for DEF8

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

    TryGeneCards Plus
      --

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

    TryGeneCards Plus

    PubMed articles for DEF8 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with DEF8)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    2. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1, 3 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    3. N-terminal acetylome analyses and functional insights of the N- terminal acetyltransferase NatB. (PubMed id 22814378)2 Van Damme P....Aldabe R. (Proc. Natl. Acad. Sci. U.S.A. 2012)
    4. Systematic and quantitative assessment of the ubiquitin-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (Mol. Cell 2011)
    5. Global identification of modular cullin-RING ligase substrates. (PubMed id 21963094)1 Emanuele M.J....Elledge S.J. (Cell 2011)
    6. The sequence and analysis of duplication-rich human chromosome 16. (PubMed id 15616553)2 Martin J.... Pennacchio L.A. (Nature 2004)
    7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    8. Normalization and subtraction: two approaches to facilitate gene discovery. (PubMed id 8889548)1 Bonaldo M.F.... Soares M.B. (Genome Res. 1996)

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

    TryGeneCards Plus
     ANDOR
    Aliases
    Free Text  

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

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

    TryGeneCards Plus
    Entrez Gene: 54849 HGNC: 25969 AceView: FLJ20186 Ensembl:ENSG00000140995 euGenes: HUgn54849
    ECgene: DEF8 H-InvDB: DEF8

    (According to HUGE)
    About This Section

    TryGeneCards Plus
      --

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

    TryGeneCards Plus
    NameDescription
    PharmGKB entry for DEF8 Pharmacogenomics, SNPs, Pathways

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

    TryGeneCards Plus
    Patent Information for DEF8 gene:
    Search GeneIP for patents involving DEF8

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



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

    TryGeneCards Plus

     
     EMD Millipore genomic analysis products

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Enzyme Activity Assays/Reagents  
     Browse ELISpot/FluoroSpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Luminex Assays  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Recombinant/Natural Proteins   Browse Stem Cell Products  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     OriGene Antibodies for DEF8   OriGene RNAi products in human, mouse, rat for DEF8  
     OriGene qPCR primer pairs and template standards for DEF8   OriGene Protein Over-expression Lysate for DEF8  
     OriGene Custom Mass Spec   OriGene clones in human, mouse for DEF8  
     OriGene qSTAR qPCR primer pairs in human, mouse for DEF8   OriGene Purified Protein for DEF8  
     OriGene ORF clones in mouse, rat for DEF8   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for DEF8   OriGene Custom Protein Services for DEF8  

     
     
     Block miRNA regulation of human, mouse, rat DEF8 using miScript Target Protectors SeqTarget long-range PCR primers for resequencing DEF8
     DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat DEF8 Predesigned siRNA for gene silencing in human, mouse, rat DEF8
     QuantiFast Probe-based Assays in human, mouse, rat DEF8 QuantiTect SYBR Green Assays in human, mouse, rat DEF8
     Custom PCR Arrays for DEF8 Search Chromatin IP Primers for DEF8
     Pre-validated RT2 qPCR Primer Assay in human, mouse, rat DEF8  Search GeneGlobe Interaction Network for DEF8
     Regulatory tfbs in DEF8 promoter
     GenScript Custom Purified and Recombinant Proteins Services for DEF8 GenScript cDNA clones with any tag delivered in your preferred vector for DEF8
     GenScript Custom Assay Services for DEF8 GenScript Custom overexpressing Cell Line Services for DEF8
     CloneReady with Over 120,000 Genes  Gene Synthesis: Any Gene in Any Vector
     Vector-based siRNA and miRNA, Ready for Transfection Gene Mutant Library, Variants up to 10^11
     Plasmid Preparation Custom Peptide Services
     Search for Antibodies & Assays

     Search Tocris compounds for DEF8 (DEFI8)
     Browse Sino Biological Proteins
     Browse Sino Biological Cell Lysates
     cDNA Clones for DEF8
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

     Novus Tissue Slides
     DEF8 antibodies
     DEF8 proteins
     DEF8 lysates
     Antibodies for DEF8
     See all of Abcam's Antibodies, Kits and Proteins for DEF8
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins
     Proteins for DEF8
     Antibodies for DEF8
     ELISAs for DEF8
     CLIAs for DEF8



     Browse ESI BIO Cell Lines and PureStem Progenitors for DEF8
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DEF8
     SwitchGear 3'UTR luciferase reporter plasmids for DEF8
     Browse SwitchGear Promoter luciferase reporter plasmids for DEF8
     Search ThermoFisher Antibodies for DEF8
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DEF8
     inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for DEF8
     inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for DEF8
     LSBio Antibodies in human, mouse, rat for DEF8
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
     Browse compounds at ApexBio
     Search Addgene for plasmids for DEF8
      Search eBioscience for proteins for DEF8
      Search eBioscience for elisas for DEF8
      eBioscience FlowRNA Probe Sets
           
    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014

    View Random Gene

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


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

    Hot genes      Disease genes      DEF8 gene at Home site.
    Version: 3.12.212 17 Sep 2014
    hostname: 356977-web1.xennexinc.com index build: 128 solr: 1.4