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

DEFB115 Gene

protein-coding   GIFtS: 37
GCID: GC20P029845

Defensin, Beta 115

Microbiology & Infectious Diseases Congress
  Search for DEFB115
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 1151 2 3
Beta-Defensin 152 3
DEFB-152 3
Beta-Defensin 1152
Defensin, Beta 152
DEFB153

External Ids:    HGNC: 180961   Entrez Gene: 2459292   Ensembl: ENSG000002155477   UniProtKB: Q30KQ53   

Export aliases for DEFB115 gene to outside databases

Previous GC identifers: GC20U990231 GC20P029309 GC20P026634


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

GeneCards Summary for DEFB115 Gene: 
DEFB115 (defensin, beta 115) is a protein-coding gene. Among its related super-pathways are Defensins and Immune System.

UniProtKB/Swiss-Prot: DB115_HUMAN, Q30KQ5
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_000020.10  NC_018931.2  NT_011362.10  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the DEFB115 gene promoter:
         FOXF2   AML1a   FOXO4   SEF-1 (1)   FOXO1a   FOXD1   FOXO1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidDEFB115 promoter sequence
   Search SABiosciences Chromatin IP Primers for DEFB115

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DEFB115


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

Entrez Gene cytogenetic band: 20q11.1   Ensembl cytogenetic band:  20q11.21   HGNC cytogenetic band: 20q11.1

DEFB115 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DEFB115 gene location

GeneLoc information about chromosome 20         GeneLoc Exon Structure

GeneLoc location for GC20P029845:  view genomic region     (about GC identifiers)

Start:
29,845,467 bp from pter      End:
29,847,435 bp from pter
Size:
1,969 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: DB115_HUMAN, Q30KQ5 (See protein sequence)
Recommended Name: Beta-defensin 115 precursor  
Size: 88 amino acids; 10071 Da
Subcellular location: Secreted (By similarity)

Explore the universe of human proteins at neXtProt for DEFB115: NX_Q30KQ5

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q30KQ5

  • DEFB115 Protein expression data from MOPED1, PaxDb2 and MAXQB3 : --
    REFSEQ proteins: NP_001032819.1  
    ENSEMBL proteins: 
     ENSP00000383398  
    Reactome Protein details: Q30KQ5
    Human Recombinant Protein Products for DEFB115: 
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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--

    DEFB115 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

    ProtoNet protein and cluster: Q30KQ5

    UniProtKB/Swiss-Prot: DB115_HUMAN, Q30KQ5
    Similarity: Belongs to the beta-defensin family


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, 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: DB115_HUMAN, Q30KQ5
    Function: Has antibacterial activity (By similarity)

    Animal Models:

       inGenious Targeting Laboratory - Custom generated mouse model solutions for DEFB115 
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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 DEFB115 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 DEFB115
        Defensins
    Beta defensins
    Immune System
    Innate Immune System



    DEFB115 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for DEFB115

    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--

    DEFB115 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 DEFB115 (DB115)

    Search CenterWatch for drugs/clinical trials and news about DEFB115 / DB115

    (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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    About This Section

    REFSEQ mRNAs for DEFB115 gene: 
    NM_001037730.1  

    Unigene Cluster for DEFB115:

    Defensin, beta 115
    Hs.580793
    Unigene Representative Sequence: DQ012019
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000400552(uc002wvp.1)
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat DEFB115

    Additional mRNA sequence: DQ012019.1 

    1 DOTS entry:

    DT.120822923 

    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

    DEFB115 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CAAAGAAATT
    DEFB115 Expression
    About this image


    SOURCE GeneReport for Unigene cluster: Hs.580793
        SABiosciences Custom PCR Arrays for DEFB115
    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DEFB115

    (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 DEFB115 gene from 1/2 species (see all 2)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Defb285 defensin beta 28   --   2 (75.20 cM) 152518255 


    ENSEMBL Gene Tree for DEFB115 (if available)
    TreeFam Gene Tree for DEFB115 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for DEFB115 gene
    8 SIMAP similar genes for DEFB115 using alignment to 1 protein entry:     DB115_HUMAN:
    DEFB118    DEFB126    DEFB123    DEFB117    DEFB128    DEFB104A
    DEFB104B    DEFB121

    DEFB115 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

    10/152 SNPs in DEFB115 are shown (see all 152)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 20 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1444106881,2
    C--29843494(+) CACACC/TCACAC 1 -- us2k10--------
    rs1508408321,2
    C--29843510(+) CGTAT-/ATCATATT 1 -- us2k10--------
    rs1425316941,2
    C--29843552(+) TCCTA-/TGTGCC 1 -- us2k10--------
    rs1122821241,2
    C,F--29843556(+) ATGTGT/CCTTAC 1 -- us2k12Minor allele frequency- C:0.33CSA 3
    rs1479186651,2
    --29843583(+) ATACAC/TGTATA 1 -- us2k10--------
    rs49114811,2
    C,F,H--29843709(+) TGTGTG/CCCTTT 1 -- us2k111Minor allele frequency- C:0.07NS EA NA 1064
    rs1140531181,2
    F--29843719(+) TCACAC/TGCACA 1 -- us2k11Minor allele frequency- T:0.02WA 118
    rs557218491,2
    C--29843720(+) CACACA/GCACAC 1 -- us2k10--------
    rs1883479801,2
    --29843726(+) CACACA/CCGCAC 1 -- us2k10--------
    rs49114821,2
    C,F,A,H--29843728(+) CACCCA/GCACAC 1 -- us2k114Minor allele frequency- G:0.29NS EA NA WA CSA 782

    HapMap Linkage Disequilibrium report for DEFB115 (29845467 - 29847435 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for DEFB115:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv458960CNV Gain19166990
    nsv470546CNV Gain18288195
    nsv833951CNV Gain+Loss17160897

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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
      --

    (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 DEFB115 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with DEFB115)
        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)
    3. The DNA sequence and comparative analysis of human chromosome 20. (PubMed id 11780052)1, 2 Deloukas P....Rogers J. (2001)

    (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: 245929 HGNC: 18096 Ensembl:ENSG00000215547 euGenes: HUgn245929 ECgene: DEFB115
    H-InvDB: DEFB115

    (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 DEFB115 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 DEFB115 gene:
    Search GeneIP for patents involving DEFB115

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



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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 DEFB115
     Browse SwitchGear 3'UTR luciferase reporter plasmids for DEFB115
     SwitchGear Promoter luciferase reporter plasmids for DEFB115
     ThermoFisher Antibodies for DEFB115
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DEFB115
     inGenious Targeting Laboratory - Custom generated mouse model solutions for DEFB115
     inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for DEFB115
    Customized:
     lentivirus for stable overexpression of DEFB115
     lentivirus expression plasmids for stable overexpression of DEFB115
     adenovirus for overexpression of DEFB115
     Search LSBio for Antibodies for DEFB115
    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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    (GIFtS: 73)
    transforming growth factor, beta 1
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