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

DEFB113 Gene

protein-coding   GIFtS: 36
GCID: GC06M049936

Defensin, Beta 113

Microbiology & Infectious Diseases Congress
  See related disease
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
Defensin, Beta 1131 2 3
Beta-Defensin 132 3
DEFB-132 3
Beta-Defensin 1132
Defensin, Beta 132
DEFB133

External Ids:    HGNC: 180941   Entrez Gene: 2459272   Ensembl: ENSG000002146427   UniProtKB: Q30KQ73   

Export aliases for DEFB113 gene to outside databases

Previous GC identifers: GC06U990316 GC06M050044 GC06M049667


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

GeneCards Summary for DEFB113 Gene: 
DEFB113 (defensin, beta 113) is a protein-coding gene. Diseases associated with DEFB113 include tonsillitis, and among its related super-pathways are Defensins and Immune System.

UniProtKB/Swiss-Prot: DB113_HUMAN, Q30KQ7
Function: Has antibacterial activity (By similarity)




(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 DEFB113 gene promoter:
         TBP   STAT5B   C/EBPbeta   AML1a   FOXO3b   SRY   FAC1   TFIID   FOXO3a   MRF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidDEFB113 promoter sequence
   Search SABiosciences Chromatin IP Primers for DEFB113

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DEFB113


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

Entrez Gene cytogenetic band: 6p12.3   Ensembl cytogenetic band:  6p12.3   HGNC cytogenetic band: 6p12.3

DEFB113 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DEFB113 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06M049936:  view genomic region     (about GC identifiers)

Start:
49,936,390 bp from pter      End:
49,937,338 bp from pter
Size:
949 bases      Orientation:
minus 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: DB113_HUMAN, Q30KQ7 (See protein sequence)
Recommended Name: Beta-defensin 113 precursor  
Size: 82 amino acids; 9640 Da
Subcellular location: Secreted (By similarity)

Explore the universe of human proteins at neXtProt for DEFB113: NX_Q30KQ7

Explore proteomics data for DEFB113 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q30KQ7

  • DEFB113 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    DEFB113 Protein Expression
    REFSEQ proteins: NP_001032818.1  
    ENSEMBL proteins: 
     ENSP00000381703  
    Reactome Protein details: Q30KQ7
    Human Recombinant Protein Products for DEFB113: 
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    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region IEA--

    DEFB113 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    DEFB: Defensins, beta

    1 InterPro protein domain:
     IPR025933 Beta_defensin

    Graphical View of Domain Structure for InterPro Entry Q30KQ7

    ProtoNet protein and cluster: Q30KQ7

    UniProtKB/Swiss-Prot: DB113_HUMAN, Q30KQ7
    Similarity: Belongs to the beta-defensin family


    DEFB113 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: DB113_HUMAN, Q30KQ7
    Function: Has antibacterial activity (By similarity)

    Animal Models:

       inGenious Targeting Laboratory - Custom generated mouse model solutions for DEFB113 
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for DEFB113 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Beta defensins
    Defensins0.80
    Beta defensins0.80
    2Immune System
    Immune System0.56
    Innate Immune System0.50

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    4        Reactome Pathways for DEFB113
        Defensins
    Beta defensins
    Immune System
    Innate Immune System



    DEFB113 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for DEFB113

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0042742defense response to bacterium IEA--

    DEFB113 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for DEFB113 (DB113)

    Search CenterWatch for drugs/clinical trials and news about DEFB113 / DB113

    (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,
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    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 DEFB113 gene: 
    NM_001037729.1  

    Unigene Cluster for DEFB113:

    Defensin, beta 113
    Hs.582789
    Unigene Representative Sequence: DQ012017
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000398718(uc011dwq.2)
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    Additional mRNA sequence: DQ012017.1 

    1 DOTS entry:

    DT.121308496 

    GeneLoc Exon Structure


    (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

    DEFB113 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    DEFB113 Expression
    About this image


    See DEFB113 Protein Expression from SPIRE MOPED and PaxDB
    SOURCE GeneReport for Unigene cluster: Hs.582789
        SABiosciences Custom PCR Arrays for DEFB113
    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DEFB113

    (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 human and mouse.

    Orthologs for DEFB113 gene from 1/5 species (see all 5)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Defb181 , 5 defensin beta 181, 5 72.95(n)1
    63.77(a)1
      1 (5.70 cM)5
    6544601  NM_001039123.11  NP_001034212.11 
     182364735 


    ENSEMBL Gene Tree for DEFB113 (if available)
    TreeFam Gene Tree for DEFB113 (if available)

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

    (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

    10/80 SNPs in DEFB113 are shown (see all 80)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs132130541,2
    C,H--49936176(+) TCTCAT/GGGCTG 1 -- ds50014Minor allele frequency- G:0.00NS EA 418
    rs77666361,2
    C,F,A,H--49936225(+) CACTCA/TTTTTT 1 -- ds500117Minor allele frequency- N:0.00EA NA NS WA 1416
    rs131969621,2
    C,H--49936258(+) CCAACA/GTTGAA 1 -- ds50015Minor allele frequency- G:0.00NS EA NA 422
    rs1886900751,2
    --49936331(+) TTGATA/CGATAG 1 -- ds50010--------
    rs795633521,2
    C,F--49936364(+) AAATTG/ATTATA 1 -- ds50011Minor allele frequency- A:0.06WA 118
    rs2002464411,2
    C--49936445(+) ATTCCC/TATACC 2 * W stg10--------
    rs2015645081,2
    C--49936451(+) ATACCA/GCACAG 2 A V mis10--------
    rs1808152051,2
    C--49936469(+) TAACAC/TTGCAG 2 N S mis10--------
    rs2012249821,2
    C--49936508(+) ATTCCA/GGCTTG 2 P L mis10--------
    rs2018964871,2
    C--49936513(+) GGCTTC/GCAAGC 2 C W mis10--------

    HapMap Linkage Disequilibrium report for DEFB113 (49936390 - 49937338 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for DEFB113: --
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing DEFB113
    DNA2.0 Custom Variant and Variant Library Synthesis for DEFB113

    (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
    2 diseases for DEFB113:    About MalaCards
    tonsillitis    

    1 disease from the University of Copenhagen DISEASES database for DEFB113:
    Tonsillitis

    DEFB113 for disorders           About GeneDecksing


    Export disorders for DEFB113 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 DEFB113 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with DEFB113)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cross-species analysis of the mammalian beta-defensin gene family: presence of syntenic gene clusters and preferential expression in the male reproductive tract. (PubMed id 16033865)1, 2, 3 Patil A.A.... Zhang G. (2005)
    2. Discovery of five conserved beta-defensin gene clusters using a computational search strategy. (PubMed id 11854508)1, 3 Schutte B.C.... McCray P.B. Jr. (2002)

    (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: 245927 HGNC: 18094 Ensembl:ENSG00000214642 euGenes: HUgn245927 ECgene: DEFB113
    H-InvDB: DEFB113

    (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 DEFB113 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 DEFB113 gene:
    Search GeneIP for patents involving DEFB113

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



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

     
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     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DEFB113
     Browse SwitchGear 3'UTR luciferase reporter plasmids for DEFB113
     SwitchGear Promoter luciferase reporter plasmids for DEFB113
     Search ThermoFisher Antibodies for DEFB113
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DEFB113
     inGenious Targeting Laboratory - Custom generated mouse model solutions for DEFB113
     inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for DEFB113
    Customized:
     lentivirus for stable overexpression of DEFB113
     lentivirus expression plasmids for stable overexpression of DEFB113
     adenovirus for overexpression of DEFB113
     Search LSBio for Antibodies for DEFB113
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
           
    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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    Category
    (GIFtS: 73)
    transforming growth factor, beta 1
    GIFtS Group
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