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DEFB123 Gene

protein-coding   GIFtS: 43
GCID: GC20P030028

Defensin, Beta 123

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)
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Aliases
Defensin, Beta 1231 2 3     ESC42-RELD2
Beta Defensin 231 2     Beta-Defensin 1232
Beta-Defensin 232 3     Specific To Testis And Epididymis2
DEFB-232 3     DEFB233

External Ids:    HGNC: 181031   Entrez Gene: 2459362   Ensembl: ENSG000001804247   UniProtKB: Q8N6883   

Export aliases for DEFB123 gene to outside databases

Previous GC identifers: GC20U990238 GC20P029776 GC20P030726 GC20P030773 GC20P029492 GC20P026817


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for DEFB123 Gene:
Defensins are cysteine-rich cationic polypeptides that are important in the host immunologic response to invading
microorganisms. The protein encoded by this gene is secreted and is a member of the beta defensin protein family.
Beta defensin genes are found in several clusters throughout the genome, with this gene mapping to a cluster at
20q11.1. (provided by RefSeq, Jul 2008)

GeneCards Summary for DEFB123 Gene:
DEFB123 (defensin, beta 123) is a protein-coding gene. Diseases associated with DEFB123 include otitis media.

UniProtKB/Swiss-Prot: DB123_HUMAN, Q8N688
Function: Has antibacterial activity (Potential)




(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)
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RefSeq DNA sequence:
NC_000020.11  NC_018931.2  NT_011362.11  
Regulatory elements:
   Regulatory transcription factor binding sites in the DEFB123 gene promoter:
         Elk-1   Sox5   Pax-6   STAT5A   CUTL1   c-Ets-1   FOXO1a   ATF6   FOXO1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidDEFB123 promoter sequence
   Search Chromatin IP Primers for DEFB123

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat DEFB123


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

DEFB123 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DEFB123 gene location

GeneLoc information about chromosome 20         GeneLoc Exon Structure

GeneLoc location for GC20P030028:  view genomic region     (about GC identifiers)

Start:
30,028,322 bp from pter      End:
30,038,060 bp from pter
Size:
9,739 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, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: DB123_HUMAN, Q8N688 (See protein sequence)
Recommended Name: Beta-defensin 123 precursor  
Size: 67 amino acids; 8105 Da

Explore the universe of human proteins at neXtProt for DEFB123: NX_Q8N688

Explore proteomics data for DEFB123 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See DEFB123 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_697019.1  
    ENSEMBL proteins: 
     ENSP00000365486  
    Reactome Protein details: Q8N688

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

    1 InterPro protein domain:
     IPR025933 Beta_defensin

    Graphical View of Domain Structure for InterPro Entry Q8N688

    ProtoNet protein and cluster: Q8N688

    UniProtKB/Swiss-Prot: DB123_HUMAN, Q8N688
    Similarity: Belongs to the beta-defensin family


    DEFB123 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,
    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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: DB123_HUMAN, Q8N688
    Function: Has antibacterial activity (Potential)

    Animal Models:

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    hsa-mir-335-5p (MIRT017450)

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    hsa-miR-3157-5p
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    DB123_HUMAN, Q8N688: Secreted (Potential)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular3

    Gene Ontology (GO): 1 cellular component term:    About this table

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

    DEFB123 for ontologies           About GeneDecksing


    (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).
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    SuperPaths for DEFB123 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Defensins
    Defensins0.80
    Beta defensins0.80

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    2 Reactome Pathways for DEFB123
        Defensins
    Beta defensins



    DEFB123 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for DEFB123
    Interactions:

        Search GeneGlobe Interaction Network for DEFB123

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

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

    DEFB123 for ontologies           About GeneDecksing



    (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)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for DEFB123 (DB123)



    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for DEFB123 gene: 
    NM_153324.2  

    Unigene Cluster for DEFB123:

    Defensin, beta 123
    Hs.122509  [show with all ESTs]
    Unigene Representative Sequence: DB070775
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000376309(uc002wvy.3)
    Congresses - knowledge worth sharing:
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
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    1 qRT-PCR Assays for microRNA that regulate DEFB123:
    hsa-miR-3157-5p
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    Additional mRNA sequence: 

    AF479701.1 AY122475.1 AY358859.1 AY501002.1 BC126365.1 BC126391.1 

    2 DOTS entries:

    DT.109867  DT.95149229 

    19 AceView cDNA sequences:

    BF508527 NM_153324 BX088805 AY122475 AA298819 AI990377 AY358859 BE502159 
    AA298815 AA934558 AA789269 T19416 AA970840 AA834912 AA933749 AI635348 
    AW444815 AW966413 AI146654 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for DEFB123    About this scheme

    ExUns: 1a · 1b ^ 2a · 2b · 2c
    SP1:              -               
    SP2:                              


    ECgene alternative splicing isoforms for DEFB123

    (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)
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    DEFB123 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AAAATGCAGA
    DEFB123 Expression
    About this image

    DEFB123 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    DEFB123 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.122509
        Custom PCR Arrays for DEFB123
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DEFB123

    (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)
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    This gene was present in the common ancestor of human and mouse.

    Orthologs for DEFB123 gene from Selected species (see all 4)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Defb365 defensin beta 36   --   2 (75.41 cM) 152604327 


    ENSEMBL Gene Tree for DEFB123 (if available)
    TreeFam Gene Tree for DEFB123 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for DEFB123 gene
    11 SIMAP similar genes for DEFB123 using alignment to 3 protein entries:     DB123_HUMAN (see all proteins):
    DEFB121    DEFB115    DEFB118    DEFB128    DEFB119    DEFB125
    DEFB124    DEFB132    DEFB108P1    DEFB108P2    DEFB135

    DEFB123 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for DEFB123
    PGOHUM00000247507


    (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)
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    Selected SNPs for DEFB123 (see all 276)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 20 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1851505821,2
    --30026452(+) TCTGAC/TTCACC 1 -- us2k10--------
    rs1145822951,2
    F--30026457(+) CTCACC/TATGAA 1 -- us2k11Minor allele frequency- T:0.02WA 118
    rs61419481,2
    H--30026557(+) TCTCCC/TTTATC 1 -- us2k14Minor allele frequency- T:0.00NS EA 418
    rs1890257881,2
    --30026599(+) GAGTCC/TTCAGG 1 -- us2k10--------
    rs769838101,2
    C--30026614(+) CTACAA/CAGGCT 1 -- us2k10--------
    rs1383655931,2
    --30026617(+) CAAAGA/GCTTCA 1 -- us2k10--------
    rs2009938491,2
    --30026625(+) TCAAA-/ACAAGAG 1 -- us2k10--------
    rs725313831,2
    C--30026626(+) AAAAC-/AAAGAGC 1 -- us2k10--------
    rs30685361,2
    C--30026627(+) AAAAC-/AAGAGCA 1 -- us2k12Minor allele frequency- AA:0.25NA CSA 4
    rs622046331,2
    --30026627(+) AAAACG/AAGAGC 1 -- us2k11Minor allele frequency- A:0.00NA 2

    HapMap Linkage Disequilibrium report for DEFB123 (30028322 - 30038060 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for DEFB123:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv270703CNV Insertion20981092
    nsv458961CNV Gain19166990
    nsv912835CNV Gain21882294
    nsv470546CNV Gain18288195

    Site Specific Mutation Identification with 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.)
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    1 disease for DEFB123:    About MalaCards
    otitis media


    DEFB123 for disorders           About GeneDecksing


    Export disorders for DEFB123 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)
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    PubMed articles for DEFB123 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with DEFB123)
        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. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    2. 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. (Genome Res. 2003)
    3. The DNA sequence and comparative analysis of human chromosome 20. (PubMed id 11780052)1, 2 Deloukas P....Rogers J. (Nature 2001)
    4. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 245936 HGNC: 18103 AceView: DEFB123 Ensembl:ENSG00000180424 euGenes: HUgn245936
    ECgene: DEFB123 H-InvDB: DEFB123

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for DEFB123 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for DEFB123 gene:
    Search GeneIP for patents involving DEFB123

    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, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, 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)
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    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014

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