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

DEFB119 Gene

protein-coding   GIFtS: 49
GCID: GC20M029964

Defensin, Beta 119

(Previous names: defensin, beta 120)
(Previous symbol: DEFB120)
Microbiology & Infectious Diseases Congress
  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
Defensin, Beta 1191 2 3     Defensin, Beta 192
Defensin, Beta 1201 2 3     Defensin, Beta 202
DEFB1201 2 3     DEFB193
DEFB-192 3     DEFB203
DEFB-202 3     Beta-Defensin 1203
ESC42-RELA2 3     Beta-Defensin 193
ESC42-RELB2     Beta-Defensin 203
Beta-Defensin 1192     

External Ids:    HGNC: 180991   Entrez Gene: 2459322   Ensembl: ENSG000001804837   UniProtKB: Q8N6903   

Export aliases for DEFB119 gene to outside databases

Previous GC identifers: GC20U990234 GC20M029712 GC20M030662 GC20M030709 GC20M029428 GC20M026753


(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 DEFB119 Gene:
This gene encodes a member of a family of small secreted proteins. These proteins participate in immune defense
against microbial infection. This gene is located in a cluster of similar genes on chromosome 20. Alternative
splicing results in multiple transcript variants. (provided by RefSeq, Sep 2012)

GeneCards Summary for DEFB119 Gene: 
DEFB119 (defensin, beta 119) is a protein-coding gene. Diseases associated with DEFB119 include meningioma, and leukemia, and among its related super-pathways are Defensins and Immune System.

UniProtKB/Swiss-Prot: DB119_HUMAN, Q8N690
Function: Has antibacterial activity (Potential)

Gene Wiki entry for DEFB119 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_000020.10  NC_018931.2  NT_011362.10  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the DEFB119 gene promoter:
         RORalpha1   MIF-1   GATA-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidDEFB119 promoter sequence
   Search SABiosciences Chromatin IP Primers for DEFB119

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DEFB119


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

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

DEFB119 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DEFB119 gene location

GeneLoc information about chromosome 20         GeneLoc Exon Structure

GeneLoc location for GC20M029964:  view genomic region     (about GC identifiers)

Start:
29,964,967 bp from pter      End:
29,978,406 bp from pter
Size:
13,440 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: DB119_HUMAN, Q8N690 (See protein sequence)
Recommended Name: Beta-defensin 119 precursor  
Size: 84 amino acids; 9822 Da
Subcellular location: Secreted (Potential)
Secondary accessions: Q5GRG1 Q5JWP1 Q5TH42 Q8N689
Alternative splicing: 3 isoforms:  Q8N690-1   Q8N690-2   Q8N690-3   (Abundantly expressed in testis)

Explore the universe of human proteins at neXtProt for DEFB119: NX_Q8N690

Explore proteomics data for DEFB119 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q8N690

  • DEFB119 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    DEFB119 Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_001258138.1  NP_695021.2  NP_697018.1  

    ENSEMBL proteins: 
     ENSP00000345768   ENSP00000365499   ENSP00000365492  
    Reactome Protein details: Q8N690
    Human Recombinant Protein Products for DEFB119: 
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    Browse Proteins at Cloud-Clone Corp. 

    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--

    DEFB119 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 Q8N690

    ProtoNet protein and cluster: Q8N690

    UniProtKB/Swiss-Prot: DB119_HUMAN, Q8N690
    Similarity: Belongs to the beta-defensin family


    DEFB119 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: DB119_HUMAN, Q8N690
    Function: Has antibacterial activity (Potential)

    Phenotypes:
         1 GenomeRNAi human phenotype for DEFB119:

     Decreased viability with pacli 

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for DEFB119 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for DEFB119

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for DEFB119 
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    Inhib. RNA
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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 DEFB119 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 DEFB119
        Defensins
    Beta defensins
    Immune System
    Innate Immune System



    DEFB119 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for DEFB119

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006952defense response ----
    GO:0042742defense response to bacterium IEA--

    DEFB119 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 DEFB119 (DB119)

    Search CenterWatch for drugs/clinical trials and news about DEFB119 / DB119

    (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 DEFB119 gene (3 alternative transcripts): 
    NM_001271209.1  NM_153289.3  NM_153323.4  

    Unigene Clusters for DEFB119:

    Defensin, beta 119
    Hs.516998  [show with all ESTs], Hs.743655  [show with all ESTs]
    Unigene Representative Sequences: BM559648, BQ429021
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000492344 ENST00000339144(uc002wvs.3) ENST00000376321(uc002wvt.3)
    ENST00000376315(uc002wvu.1)
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat DEFB119
    1 QIAGEN miScript miRNA Assays for microRNA that regulate DEFB119:
    hsa-miR-590-3p
    SwitchGear 3'UTR luciferase reporter plasmidDEFB119 3' UTR sequence
    Inhib. RNA
    Products:
         
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    OriGene RNAi products in human, mouse, rat for DEFB119
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat DEFB119
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DEFB119
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat DEFB119

    Additional mRNA sequence: 

    AF479698.1 AY358860.1 AY501001.1 

    7 DOTS entries:

    DT.445431  DT.101981255  DT.75163471  DT.40112149  DT.97770461  DT.97794573  DT.92418983 

    24/52 AceView cDNA sequences (see all 52):

    AW173087 NM_153289 AY122473 AY122472 AA910026 NM_173460 BC062212 BX106379 
    AW236934 BM559648 AA769984 AI631437 AA807414 AL709257 AW235353 AA442458 
    BU852363 H92096 AW291899 AI954833 AW193716 BU854293 AY358860 AI005061 

    GeneLoc Exon Structure

    5/6 Alternative Splicing Database (ASD) splice patterns (SP) for DEFB119 (see all 6)    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b
    SP1:                          -     -     -                     
    SP2:                                                            
    SP3:                          -     -     -     -               
    SP4:                          -     -                           
    SP5:                                                            


    ECgene alternative splicing isoforms for DEFB119

    (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

    DEFB119 expression in normal human tissues (normalized intensities)      DEFB119 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGCCTGCTAA
    DEFB119 Expression
    About this image


    DEFB119 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/2 selected tissues (see all 2) fully expand
     
     Testis (Reproductive System)    fully expand to see all 2 entries
             Pre-Sertoli Cells Testis Cord
             Seminiferous Tubules
     
     Kidney (Urinary System)

    See DEFB119 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for DEFB119

    SOURCE GeneReport for Unigene clusters: Hs.516998 Hs.743655
        SABiosciences Custom PCR Arrays for DEFB119
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DEFB119

    (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 DEFB119 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 Defb191 , 5 defensin beta 191, 5 75.5(n)1
    65.06(a)1
      2 (75.31 cM)5
    2467001  NM_145157.31  NP_660139.11 
     1525760865 


    ENSEMBL Gene Tree for DEFB119 (if available)
    TreeFam Gene Tree for DEFB119 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for DEFB119 gene
    3 SIMAP similar genes for DEFB119 using alignment to 1 protein entry:     DB119_HUMAN:
    DEFB123    DEFB121    DEFB124

    DEFB119 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

    10/381 SNPs in DEFB119 are shown (see all 381)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 20 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1423206161,2
    C--29964529(+) ACTAT-/CAACAACA 4 -- ds50010--------
    rs61199961,2
    H--29964667(+) aactaG/Agccaa 4 -- ds50014Minor allele frequency- A:0.00NS EA 420
    rs1412862271,2
    --29964760(+) ATTAAC/GTCATA 4 -- ds50010--------
    rs1914695281,2
    --29964780(+) AAAGCC/TTTCGA 4 -- ds50010--------
    rs1450394621,2
    --29964841(+) TTCTCG/TGTAAT 4 -- ds50010--------
    rs1839417271,2
    C--29964908(+) CATTGC/TCACCA 4 -- ds50010--------
    rs1388209761,2
    --29964914(+) CACCAC/TGCAAA 4 -- ds50010--------
    rs22729481,2
    C,H--29964935(-) AATCAT/CAGTGA 4 -- ds50013Minor allele frequency- C:0.07EA NS 1736
    rs1419148771,2
    --29964977(+) GGCACA/GTGAAT 4 -- ut31 nc-transcript-variant0--------
    rs1153552261,2
    C,F--29964988(+) TTTAAT/CGAGGG 4 -- ut31 nc-transcript-variant1Minor allele frequency- C:0.02WA 118

    HapMap Linkage Disequilibrium report for DEFB119 (29964967 - 29978406 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for DEFB119:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv458961CNV Gain19166990
    nsv912835CNV Gain21882294
    nsv470546CNV Gain18288195

    SABiosciences Cancer Mutation PCR Assays
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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
    2 diseases for DEFB119:    About MalaCards
    meningioma    leukemia


    DEFB119 for disorders           About GeneDecksing

    Genetic Association Database (GAD): DEFB119
    Human Genome Epidemiology (HuGE) Navigator: DEFB119 (4 documents)

    Export disorders for DEFB119 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 DEFB119 gene, integrated from 9 sources (see all 13):
    (articles sorted by number of sources associating them with DEFB119)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Discovery of five conserved beta-defensin gene clusters using a computational search strategy. (PubMed id 11854508)1, 2, 3 Schutte B.C.... McCray P.B. Jr. (2002)
    2. Polymorphisms in innate immunity genes and risk of ch ildhood leukemia. (PubMed id 20438785)1, 4 Han S....Kang D. (2010)
    3. Risk of meningioma and common variation in genes rela ted to innate immunity. (PubMed id 20406964)1, 4 Rajaraman P....Inskip P.D. (2010)
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    5. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PubMed id 12975309)1, 2 Clark H.F.... Gray A.M. (2003)
    6. The DNA sequence and comparative analysis of human chromosome 20. (PubMed id 11780052)1, 2 Deloukas P....Rogers J. (2001)
    7. Common variation in genes related to innate immunity and risk of adult glioma. (PubMed id 19423540)1 Rajaraman P....Chanock S.J. (2009)
    8. Human beta-defensins. (PubMed id 16710608)1 Pazgier M....Lubkowski J. (2006)
    9. Identification, characterization, and evolution of a primate beta-defensin gene cluster. (PubMed id 15772680)2 Radhakrishnan Y....Hall S.H. (2005)
    10. Defensins of vertebrate animals. (PubMed id 11790538)1 Lehrer R.I. and Ganz T. (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: 245932 HGNC: 18099 AceView: DEFB119 Ensembl:ENSG00000180483 euGenes: HUgn245932
    ECgene: DEFB119 H-InvDB: DEFB119

    (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 DEFB119 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 DEFB119 gene:
    Search GeneIP for patents involving DEFB119

    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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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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