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

DEFB132 Gene

protein-coding   GIFtS: 39
GCID: GC20P000238

Defensin, Beta 132

Microbiology & Infectious Diseases Congress
  Search for DEFB132
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 1321 2 3     KFLL8272
Beta-Defensin 322 3     RP5-1103G7.62
Defensin HEL-752 3     UNQ8272
BD-322 3     Beta-Defensin 1322
DEFB-322 3     Defensin, Beta 322
DEFB322 3     

External Ids:    HGNC: 338061   Entrez Gene: 4008302   Ensembl: ENSG000001864587   UniProtKB: Q7Z7B73   

Export aliases for DEFB132 gene to outside databases

Previous GC identifer: GC20P000189


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

GeneCards Summary for DEFB132 Gene: 
DEFB132 (defensin, beta 132) is a protein-coding gene. Among its related super-pathways are Defensins and Immune System.

UniProtKB/Swiss-Prot: DB132_HUMAN, Q7Z7B7
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 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_011387.8  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the DEFB132 gene promoter:
         Tal-1   FOXO4   FOXO1a   E47   FOXO1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidDEFB132 promoter sequence
   Search SABiosciences Chromatin IP Primers for DEFB132

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DEFB132


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

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

DEFB132 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DEFB132 gene location

GeneLoc information about chromosome 20         GeneLoc Exon Structure

GeneLoc location for GC20P000238:  view genomic region     (about GC identifiers)

Start:
238,377 bp from pter      End:
241,737 bp from pter
Size:
3,361 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: DB132_HUMAN, Q7Z7B7 (See protein sequence)
Recommended Name: Beta-defensin 132 precursor  
Size: 95 amino acids; 10610 Da
Subcellular location: Secreted (Potential)
Caution: Was termed (Ref.2) DEFB133
Secondary accessions: B2RP72 Q4QY40

Explore the universe of human proteins at neXtProt for DEFB132: NX_Q7Z7B7

Explore proteomics data for DEFB132 at MOPED 

DEFB132 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

DEFB132 Protein Expression

REFSEQ proteins: NP_997352.1  
ENSEMBL proteins: 
 ENSP00000371813  
Reactome Protein details: Q7Z7B7
Human Recombinant Protein Products for DEFB132: 
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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--

DEFB132 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 Q7Z7B7

ProtoNet protein and cluster: Q7Z7B7

UniProtKB/Swiss-Prot: DB132_HUMAN, Q7Z7B7
Similarity: Belongs to the beta-defensin family


DEFB132 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: DB132_HUMAN, Q7Z7B7
Function: Has antibacterial activity (Potential)

Phenotypes:
     1 GenomeRNAi human phenotype for DEFB132:

 Increased gamma-H2AX phosphory 

Animal Models:
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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 DEFB132 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 DEFB132
    Defensins
Beta defensins
Immune System
Innate Immune System



DEFB132 for pathways           About GeneDecksing

Interactions:

    Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for DEFB132

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--

DEFB132 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 DEFB132 (DB132)

Search CenterWatch for drugs/clinical trials and news about DEFB132 / DB132

(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 DEFB132 gene: 
NM_207469.2  

Unigene Cluster for DEFB132:

Defensin, beta 132
Hs.516819  [show with all ESTs]
Unigene Representative Sequence: NM_207469
1 Ensembl transcript including schematic representation, and UCSC links where relevant:
ENST00000382376(uc002wdb.3)
Congresses - knowledge worth sharing:  
European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

miRNA
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hsa-miR-3659
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Inhib. RNA
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Additional mRNA sequence: 

AF525932.1 AY358708.1 AY621329.1 BC137292.1 BC137293.1 EF426755.1 

1 DOTS entry:

DT.40209032 

9 AceView cDNA sequences:

AF525932 AA588497 AY358708 NM_207469 BE044548 BV193318 AI824621 BV175888 
BV177224 

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

DEFB132 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: --
DEFB132 Expression
About this image


See DEFB132 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for DEFB132

SOURCE GeneReport for Unigene cluster: Hs.516819
    SABiosciences Custom PCR Arrays for DEFB132
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In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DEFB132

(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 chimp.

Orthologs for DEFB132 gene from 1 species (see representative species )    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
chimpanzee
(Pan troglodytes)
Mammalia DEFB1321 defensin, beta 132 98.25(n)
95.79(a)
  745492  NM_001129783.1  NP_001123255.1 


ENSEMBL Gene Tree for DEFB132 (if available)
TreeFam Gene Tree for DEFB132 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
Paralogs for DEFB132 gene
4 SIMAP similar genes for DEFB132 using alignment to 1 protein entry:     DB132_HUMAN:
DEFB121    DEFB118    DEFB123    DEFB125

DEFB132 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

10/213 SNPs in DEFB132 are shown (see all 213)    About this table     
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 20 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs3645441,2
C,F,A,H--236419(+) AtgctA/Gtaaaa 1 -- us2k112Minor allele frequency- G:0.39NS EA WA NA CSA 664
rs114683371,2
C--236460(+) TACAG-/ATATATA 1 -- us2k1 tfbs30--------
rs1485509731,2
C--236460(+) TACAG-/ATAT  
  ATATAT
ATATA
1 -- us2k10--------
rs744437361,2
C--236529(+) TAAATC/TTATGG 1 -- us2k10--------
rs784478241,2
C--236530(+) AAATTA/TATGGA 1 -- us2k10--------
rs796691211,2
C--236532(+) ATTTAC/TGGAGT 1 -- us2k10--------
rs1864816091,2
--236655(+) TCAATA/GGATTC 1 -- us2k10--------
rs1391943381,2
C--236675(+) AATATA/TCAAAT 1 -- us2k10--------
rs735704591,2
C,F--236732(+) GTGGGG/ACAAAT 1 -- us2k12Minor allele frequency- A:0.04WA 120
rs735704611,2
C,F--236789(+) GAGCTG/TGGGAA 1 -- us2k12Minor allele frequency- T:0.04WA 120

HapMap Linkage Disequilibrium report for DEFB132 (238377 - 241737 bp)

Structural Variations
     Database of Genomic Variants (DGV) 4 variations for DEFB132:    About this table     
Variant IDTypeSubtypePubMed ID
nsv3248CNV Insertion18451855
nsv469544CNV Loss16826518
dgv65n68CNV Loss17160897
nsv912558CNV Gain21882294

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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 DEFB132 gene integrated from 9 sources:
(articles sorted by number of sources associating them with DEFB132)
    Utopia: connect your pdf to the dynamic
world of online information

  1. Transcriptome analysis of a cDNA library from adult human epididymis. (PubMed id 18390568)1, 2 Li J.Y.... Zhang Y.L. (2008)
  2. Directional and balancing selection in human beta-defensins. (PubMed id 18416833)1, 3 Hollox E.J. and Armour J.A. (2008)
  3. 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)
  4. 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. (2003)
  5. The DNA sequence and comparative analysis of human chromosome 20. (PubMed id 11780052)1, 2 Deloukas P....Rogers J. (2001)
  6. Cloning and identification of a novel sperm binding protein, HEL-75, with antibacterial activity and expressed in the human epididymis. (PubMed id 18343807)1 Lin Y.Q....Jin S.H. (2008)
  7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S....Malek J. (2004)
  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. (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: 400830 HGNC: 33806 AceView: UNQ827 Ensembl:ENSG00000186458 euGenes: HUgn400830
ECgene: DEFB132 H-InvDB: DEFB132

(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 DEFB132 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 DEFB132 gene:
Search GeneIP for patents involving DEFB132

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
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
About This Section

 
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 Advantages of Rabbit Monoclonal antibodies
 Abcam protocols and scientific support
 Browse ProSpec Recombinant Proteins




 Browse Proteins at Cloud-Clone Corp.
 Browse Antibodies at Cloud-Clone Corp.
 Browse ELISAs at Cloud-Clone Corp.
 Browse CLIAs at Cloud-Clone Corp.
 Search LifeMap BioReagents cell lines for DEFB132
 Gene Synthesis
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 Variant Library Synthesis
 Codon Optimization
 Protein Production and Purification
 Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DEFB132
 SwitchGear 3'UTR luciferase reporter plasmids for DEFB132
 SwitchGear Promoter luciferase reporter plasmids for DEFB132
 Search ThermoFisher Antibodies for DEFB132
 Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DEFB132
 inGenious Targeting Laboratory - Custom generated mouse model solutions for DEFB132
 inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for DEFB132
Customized:
 lentivirus for stable overexpression of DEFB132
 lentivirus expression plasmids for stable overexpression of DEFB132
 adenovirus for overexpression of DEFB132
 Search LSBio for Antibodies for DEFB132
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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The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

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