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DEFB132 Gene

protein-coding   GIFtS: 40
GCID: GC20P000238

Defensin, Beta 132

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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 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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for DEFB132 Gene:
DEFB132 (defensin, beta 132) is a protein-coding gene.

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 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 DEFB132 gene promoter:
         Tal-1   FOXO4   FOXO1a   E47   FOXO1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidDEFB132 promoter sequence
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Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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, 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,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: DB132_HUMAN, Q7Z7B7 (See protein sequence)
Recommended Name: Beta-defensin 132 precursor  
Size: 95 amino acids; 10610 Da
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


See DEFB132 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_997352.1  
ENSEMBL proteins: 
 ENSP00000371813  
Reactome Protein details: Q7Z7B7

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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 Q7Z7B7

ProtoNet protein and cluster: Q7Z7B7

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


Find genes that share domains with DEFB132           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: DB132_HUMAN, Q7Z7B7
Function: Has antibacterial activity (Potential)

Phenotypes:
     1 GenomeRNAi human phenotype for DEFB132:

 Increased gamma-H2AX phosphory 

Animal Models:
   genOway: Develop your customized and physiologically relevant rodent model for DEFB132

miRNA
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hsa-mir-335-5p (MIRT017558)

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hsa-miR-3659
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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
DB132_HUMAN, Q7Z7B7: Secreted (Potential)
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
extracellular3
cytosol1
nucleus1

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 DEFB132 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 DEFB132
    Defensins
Beta defensins


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Interactions:

    Search GeneGlobe Interaction Network for DEFB132

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 DEFB132           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 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,
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 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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Additional mRNA sequence: 

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

1 DOTS entry:

DT.40209032 

9 AceView cDNA sequences:

NM_207469 AY358708 AF525932 BE044548 AA588497 AI824621 BV193318 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™, 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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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

DEFB132 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

DEFB132 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.516819
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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 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)
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Paralogs for DEFB132 gene
4 SIMAP similar genes for DEFB132 using alignment to 1 protein entry:     DB132_HUMAN:
DEFB121    DEFB118    DEFB123    DEFB125

Find genes that share paralogs with DEFB132           About GenesLikeMe



(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 DEFB132 (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, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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  --

(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 DEFB132 gene integrated from 10 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. (DNA Res. 2008)
  2. Directional and balancing selection in human beta-defensins. (PubMed id 18416833)1, 3 Hollox E.J. and Armour J.A. (BMC Evol. Biol. 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. (Genome Res. 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. (Genomics 2003)
  5. The DNA sequence and comparative analysis of human chromosome 20. (PubMed id 11780052)1, 2 Deloukas P....Rogers J. (Nature 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. (Hum. Reprod. 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. (Genome Res. 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. (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: 400830 HGNC: 33806 AceView: UNQ827 Ensembl:ENSG00000186458 euGenes: HUgn400830
ECgene: DEFB132 H-InvDB: DEFB132

(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 DEFB132 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 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, 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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 SwitchGear Promoter luciferase reporter plasmids for DEFB132
 Search ThermoFisher Antibodies for DEFB132
 Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DEFB132
 Browse compounds at ApexBio
 Search Addgene for plasmids for DEFB132
  Search eBioscience for proteins for DEFB132
  Search eBioscience for elisas for DEFB132
  eBioscience FlowRNA Probe Sets
 genOway: Develop your customized and physiologically relevant rodent model for DEFB132
 antibodies-online antibodies for DEFB132 (5 products)
 antibodies-online kits for DEFB132 (2 products)
  Search antibodies-online for peptides for DEFB132
 antibodies-online proteins for DEFB132 (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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