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

DEFB132 Gene

protein-coding   GIFtS: 40
GCID: GC20P000238

defensin, beta 132

  Search for DEFB132
in our new
 Human Malady Compendium 
Biological research products
for DEFB132
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Defensin, Beta 1321 2 3     DEFB-322 3
DEFB321 2 3     KFLL8272
RP5-1103G7.61 2     UNQ8272
Beta-Defensin 322 3     Beta-Defensin 1322
Defensin HEL-752 3     Defensin, Beta 322
BD-322 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

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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000020.10  NC_018931.1  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 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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

DEFB132 Protein expression data from MOPED and PaxDb:    About this image 

Estimated protein expression log10 (pmol).

REFSEQ proteins: NP_997352.1  
ENSEMBL proteins: 
 ENSP00000371813  
Reactome Protein details: Q7Z7B7
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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 InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

DEFB132 for domains           About GeneDecksing

1 InterPro domain/family:
 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


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

     UniProtKB/Swiss-Prot: DB132_HUMAN, Q7Z7B7
Function: Has antibacterial activity (Potential)

miRNA
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1 QIAGEN miScript miRNA Assays for microRNA that regulate DEFB132:
hsa-miR-3659
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Inhib. RNA
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1 GenomeRNAi human phenotype for DEFB132:
 Increased gamma-H2AX phosphory 


(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways  About this table 
See pathways by source

Super-pathwaycontained gene-specific pathways
1Beta defensins
Beta defensins1.00
Defensins0.80
Beta-defensins bind microbial membranes causing disruption0.89
Pre-pro-defensins are cleaved to remove the signal peptide0.78
2Immune System
Immune System1.00
Innate Immune System0.46

Pathway sources
See GeneCards unified pathways
Show all pathways


5/6        Reactome Pathways for DEFB132 (see all 6)
    Pre-pro-defensins are cleaved to remove the signal peptide
Defensins
Beta defensins
Beta-defensins bind microbial membranes causing disruption
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, 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
Search CenterWatch for drugs/clinical trials and news about DEFB132 / DB132 

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 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,
RNAi Products from EMD Millipore,
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Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, 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)

miRNA
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1 QIAGEN miScript miRNA Assays for microRNA that regulate DEFB132:
hsa-miR-3659
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Inhib. RNA
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Additional cDNA sequence: 

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

1 DOTS entry:

DT.40209032 

9 AceView cDNA sequences:

AY358708 NM_207469 AA588497 AF525932 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
CGAP TAG: --

Microarray
RNAseq (Illumina Body Map)
(100×FPKM)½
SAGE (Serial Analysis of Gene 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
Primer
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In Situ
Assay Products:
 

 
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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)
About This Section
  --

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
  --

(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

10/194 NCBI SNPs in DEFB132 are shown (see all 194    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
--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
--236675(+) AATATA/TCAAAT 1 -- us2k10--------
rs735704591,2
C,--236732(+) GTGGGG/ACAAAT 1 -- us2k12Minor allele frequency- A:0.04WA 120
rs735704611,2
C,--236789(+) GAGCTG/TGGGAA 1 -- us2k12Minor allele frequency- T:0.04WA 120

HapMap Linkage Disequilibrium report for DEFB132 (238377 - 241737 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 3 variations for DEFB132
     3 CNVs: 79091 2249 79092

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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.)
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



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In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section

 
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