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DEFB129 Gene

protein-coding   GIFtS: 44
GCID: GC20P000215

Defensin, Beta 129

(Previous name: chromosome 20 open reading frame 87)
(Previous symbol: C20orf87)
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(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 1291 2 3     Chromosome 20 Open Reading Frame 871
C20orf871 2 3     bA530N10.32
Beta-Defensin 292 3     Beta Defensin 292
DEFB-292 3     Beta-Defensin 1292
DEFB292 3     hBD-292

External Ids:    HGNC: 162181   Entrez Gene: 1408812   Ensembl: ENSG000001259037   UniProtKB: Q9H1M33   

Export aliases for DEFB129 gene to outside databases

Previous GC identifers: GC20P000195 GC20P000202 GC20P000155


(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 DEFB129 Gene:
Defensins are cysteine-rich cationic polypeptides that are important in the 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
20p13. (provided by RefSeq, Jul 2008)

GeneCards Summary for DEFB129 Gene:
DEFB129 (defensin, beta 129) is a protein-coding gene.

UniProtKB/Swiss-Prot: DB129_HUMAN, Q9H1M3
Function: Has antibacterial activity (Potential)

Gene Wiki entry for DEFB129 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000020.10  NC_018931.2  NT_011387.9  
Regulatory elements:
   Regulatory transcription factor binding sites in the DEFB129 gene promoter:
         TBP   SRF (504 AA)   NF-AT   NF-AT4   Nkx6-1   NF-AT2   FOXJ2 (long isoform)   NF-AT3   FOXJ2   NF-AT1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidDEFB129 promoter sequence
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Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat DEFB129


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

Entrez Gene cytogenetic band: 20p13   Ensembl cytogenetic band:  20p13   HGNC cytogenetic band: 20p13

DEFB129 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DEFB129 gene location

GeneLoc information about chromosome 20         GeneLoc Exon Structure

GeneLoc location for GC20P000215:  view genomic region     (about GC identifiers)

Start:
207,899 bp from pter      End:
210,527 bp from pter
Size:
2,629 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., eBioscience, and/or antibodies-online,
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UniProtKB/Swiss-Prot: DB129_HUMAN, Q9H1M3 (See protein sequence)
Recommended Name: Beta-defensin 129 precursor  
Size: 183 amino acids; 20299 Da
Secondary accessions: Q8NES7

Explore the universe of human proteins at neXtProt for DEFB129: NX_Q9H1M3

Explore proteomics data for DEFB129 at MOPED


See DEFB129 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_543021.1  
ENSEMBL proteins: 
 ENSP00000246105  
Reactome Protein details: Q9H1M3

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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

2 InterPro protein domains:
 IPR025933 Beta_defensin
 IPR020520 Beta-defensin_129

Graphical View of Domain Structure for InterPro Entry Q9H1M3

ProtoNet protein and cluster: Q9H1M3

UniProtKB/Swiss-Prot: DB129_HUMAN, Q9H1M3
Similarity: Belongs to the beta-defensin family


Find genes that share domains with DEFB129           About GenesLikeMe


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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.)
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Molecular Function:

     UniProtKB/Swiss-Prot Summary: DB129_HUMAN, Q9H1M3
Function: Has antibacterial activity (Potential)

Animal Models:

   genOway: Develop your customized and physiologically relevant rodent model for DEFB129

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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
DB129_HUMAN, Q9H1M3: Secreted (Potential)
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
extracellular3
cytosol1

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

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

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(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 DEFB129 About    
See pathways by source

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


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Pathways by source                                                                                                                                                                 See SuperPaths
Show all pathways



2 Reactome Pathways for DEFB129
    Defensins
Beta defensins


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Interactions:

    Search GeneGlobe Interaction Network for DEFB129

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

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

Find genes that share ontologies with DEFB129           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)
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Browse Tocris compounds for DEFB129 (DB129)



(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 )
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REFSEQ mRNAs for DEFB129 gene: 
NM_080831.3  

Unigene Cluster for DEFB129:

Defensin, beta 129
Hs.112087  [show with all ESTs]
Unigene Representative Sequence: BC070359
1 Ensembl transcript including schematic representation, and UCSC links where relevant:
ENST00000246105(uc002wda.3)
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Additional mRNA sequence: 

AF525931.1 AF529413.1 AY122480.1 AY358186.1 BC070359.1 

1 DOTS entry:

DT.408588 

13 AceView cDNA sequences:

AF529413 AF525931 NM_080831 AY358186 AI217663 BC070359 AA884279 AY122480 
AA927149 BX089881 AA446332 AA399988 AA401404 

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™, 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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DEFB129 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: AAGCTCCTTT
DEFB129 Expression
About this image

DEFB129 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

DEFB129 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.112087

UniProtKB/Swiss-Prot: DB129_HUMAN, Q9H1M3
Tissue specificity: Expressed specifically in testis

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(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 DEFB129 gene from Selected species (see all 5)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Defb231 , 5 defensin beta 231, 5 67.09(n)1
47.77(a)1
  2 (75.08 cM)5
6291141  NM_001037933.21  NP_001033022.11 
 1524590555 


ENSEMBL Gene Tree for DEFB129 (if available)
TreeFam Gene Tree for DEFB129 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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(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 DEFB129 (see all 150)    About this table                                 

Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 20 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1864710001,2
--206058(+) AAGTAG/TTAAGT 1 -- us2k10--------
rs1927025861,2
--206132(+) GTTCAG/TAAGAT 1 -- us2k10--------
rs1471225451,2
--206244(+) GGAAGA/GCGAGG 1 -- us2k10--------
rs1481603991,2
C--206246(+) AAGGCA/GAGGAA 1 -- us2k10--------
rs1845091031,2
--206314(+) TATCTC/GAGTTT 1 -- us2k10--------
rs21641691,2
C,F,O,A,H--206402(-) TGGTCG/ATAGCT 1 -- us2k128Minor allele frequency- A:0.36NS EA NA WA CSA 2849
rs1905692151,2
--206478(+) TGTGGA/CAATCC 1 -- us2k10--------
rs1419693611,2
--206588(+) ATGCAC/TATGTT 1 -- us2k10--------
rs60428911,2
C,A,H--206596(+) gttcaT/Ctgcag 1 -- us2k14Minor allele frequency- C:0.00NA WA 8
rs1397881951,2
--206652(+) CATTTA/GGCCAT 1 -- us2k10--------

HapMap Linkage Disequilibrium report for DEFB129 (207899 - 210527 bp)

Structural Variations
     Database of Genomic Variants (DGV) 5 variations for DEFB129:    About this table    
Variant IDTypeSubtypePubMed ID
esv2751910CNV Loss17911159
nsv469544CNV Loss16826518
dgv65n68CNV Loss17160897
nsv458837CNV Gain19166990
nsv912554CNV Gain21882294

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(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.)
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Find genes that share disorders with DEFB129           About GenesLikeMe

Genetic Association Database (GAD): DEFB129

Export disorders for DEFB129 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 DEFB129 gene integrated from 10 sources:
(articles sorted by number of sources associating them with DEFB129)
    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 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. (Genome Res. 2004)
  3. ORFeome-based search of airway epithelial cell-specific novel human beta-defensin genes. (PubMed id 12600824)1, 2 Kao C.Y.... Wu R. (Am. J. Respir. Cell Mol. Biol. 2003)
  4. 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)
  5. Distribution of new human beta-defensin genes clustered on chromosome 20 in functionally different segments of epididymis. (PubMed id 12620395)1, 2 Rodriguez-Jimenez F.-J.... Motzkus D. (Genomics 2003)
  6. The DNA sequence and comparative analysis of human chromosome 20. (PubMed id 11780052)1, 2 Deloukas P....Rogers J. (Nature 2001)
  7. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PubMed id 17207965)1 Lamesch P.... Vidal M. (Genomics 2007)
  8. 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: 140881 HGNC: 16218 AceView: DEFB129 Ensembl:ENSG00000125903 euGenes: HUgn140881
ECgene: DEFB129 H-InvDB: DEFB129

(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 DEFB129 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 DEFB129 gene:
Search GeneIP for patents involving DEFB129

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, eBioscience, antibodies-online, 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 genOway)
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 Browse ELISAs at Cloud-Clone Corp.
 Browse CLIAs at Cloud-Clone Corp.



 Browse ESI BIO Cell Lines and PureStem Progenitors for DEFB129
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 Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DEFB129
 Browse SwitchGear 3'UTR luciferase reporter plasmids for DEFB129
 SwitchGear Promoter luciferase reporter plasmids for DEFB129
 Search ThermoFisher Antibodies for DEFB129
 Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DEFB129
 Browse compounds at ApexBio
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  eBioscience FlowRNA Probe Sets
 genOway: Develop your customized and physiologically relevant rodent model for DEFB129
 antibodies-online antibodies for DEFB129
 antibodies-online kits for DEFB129 (3 products)
  Search antibodies-online for peptides for DEFB129
 antibodies-online proteins for DEFB129 (3 products)
       
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 , 7 Oct 2014

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