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

DEFB131 Gene

protein-coding   GIFtS: 38
GCID: GC04P009446

Defensin, Beta 131

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)
About This Section

Aliases
Defensin, Beta 1311 2 3
Beta-Defensin 312 3
DEFB-312 3
Beta-Defensin 1312
Defensin, Beta 312
DEFB313

External Ids:    HGNC: 181081   Entrez Gene: 6444142   Ensembl: ENSG000001861467   UniProtKB: P598613   

Export aliases for DEFB131 gene to outside databases

Previous GC identifers: GC00U991213 GC04P009055 GC04P008801


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

GeneCards Summary for DEFB131 Gene: 
DEFB131 (defensin, beta 131) is a protein-coding gene. Diseases associated with DEFB131 include prostatitis, and among its related super-pathways are Defensins and Immune System. An important paralog of this gene is LOC100129216.

UniProtKB/Swiss-Prot: DB131_HUMAN, P59861
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_000004.11  NC_018915.2  NT_006316.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the DEFB131 gene promoter:
         RP58   Pax-6   POU3F2 (N-Oct-5b)   POU3F2 (N-Oct-5a)   POU3F2   NF-kappaB   Evi-1   NF-kappaB1   
         Other transcription factors

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Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DEFB131


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

Entrez Gene cytogenetic band: 4p16.1   Ensembl cytogenetic band:  4p16.1   HGNC cytogenetic band: 4p16.1

DEFB131 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DEFB131 gene location

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04P009446:  view genomic region     (about GC identifiers)

Start:
9,446,260 bp from pter      End:
9,452,240 bp from pter
Size:
5,981 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: DB131_HUMAN, P59861 (See protein sequence)
Recommended Name: Beta-defensin 131 precursor  
Size: 70 amino acids; 8199 Da
Subcellular location: Secreted (Potential)

Explore the universe of human proteins at neXtProt for DEFB131: NX_P59861

DEFB131 Protein expression data from MOPED1, PaxDb2 and MAXQB3 : --

REFSEQ proteins: NP_001035538.2  
ENSEMBL proteins: 
 ENSP00000335538  
Reactome Protein details: P59861
Human Recombinant Protein Products for DEFB131: 
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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--

DEFB131 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 P59861

ProtoNet protein and cluster: P59861

UniProtKB/Swiss-Prot: DB131_HUMAN, P59861
Similarity: Belongs to the beta-defensin family


DEFB131 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: DB131_HUMAN, P59861
Function: Has antibacterial activity (Potential)

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 DEFB131 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 DEFB131
    Defensins
Beta defensins
Immune System
Innate Immune System



DEFB131 for pathways           About GeneDecksing

Interactions:

    Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for DEFB131

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--

DEFB131 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 DEFB131 (DB131)

Search CenterWatch for drugs/clinical trials and news about DEFB131 / DB131

(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 DEFB131 gene: 
NM_001040448.2  

Unigene Cluster for DEFB131:

Defensin, beta 131
Hs.590200
Unigene Representative Sequence: AF529414
1 Ensembl transcript including schematic representation, and UCSC links where relevant:
ENST00000334879(uc011bwt.2)
Congresses - knowledge worth sharing:  
European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

miRNA
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Primer
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Additional mRNA sequence: AF529414.1 

1 DOTS entry:

DT.101972534 

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

DEFB131 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: CAATTAGATA
DEFB131 Expression
About this image


SOURCE GeneReport for Unigene cluster: Hs.590200

UniProtKB/Swiss-Prot: DB131_HUMAN, P59861
Tissue specificity: Highly expressed in testis. Is moderately expressed in the prostate and small intestine

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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

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

Orthologs for DEFB131 gene from 1/3 species (see all 3)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Defb435 defensin beta 43   --   14 (33.23 cM) 63011771 


ENSEMBL Gene Tree for DEFB131 (if available)
TreeFam Gene Tree for DEFB131 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
Paralogs for DEFB131 gene
LOC100129216  
1 SIMAP similar gene for DEFB131 using alignment to 1 protein entry:     DB131_HUMAN:
DEFB114

DEFB131 for paralogs           About GeneDecksing


3 Pseudogenes.org Pseudogenes for DEFB131
PGOHUM00000249231 PGOHUM00000249234 PGOHUM00000258333


(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

10/342 SNPs in DEFB131 are shown (see all 342)    About this table     
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 4 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1157532601,2
F--8807983(+) TGGCAG/TGGGGG 1 -- ds50011Minor allele frequency- T:0.01WA 118
rs1824908461,2
--9444300(+) ATGTTC/TTTGGG 1 -- us2k10--------
rs1867335521,2
--9444365(+) GCAAAC/TGTAAT 1 -- us2k10--------
rs285875321,2
C--9444398(+) AATGGA/CAAAAA 1 -- us2k10--------
rs285492921,2
C--9444410(+) CACAAT/ATACGT 1 -- us2k1 tfbs31Minor allele frequency- A:0.00NA 2
rs1817513261,2
--9444414(+) AATACA/GTTTGC 1 -- us2k10--------
rs764833061,2
C--9444501(+) TAAAGA/GATTTC 1 -- us2k10--------
rs43955021,2
--9444508(+) TTTCAA/GTTATT 1 -- us2k10--------
rs1903344341,2
C--9444542(+) TGCAGA/TGTAAA 1 -- us2k10--------
rs1405830581,2
--9444559(+) TTCCAA/GAGCTT 1 -- us2k10--------

HapMap Linkage Disequilibrium report for DEFB131 (9446260 - 9452240 bp)

Structural Variations
     Database of Genomic Variants (DGV) 10/41 variations for DEFB131 (see all 41):    About this table     
Variant IDTypeSubtypePubMed ID
esv2678198CNV Deletion23128226
dgv922e199CNV Deletion23128226
esv1163601CNV Insertion17803354
nsv508273CNV Loss20534489
nsv878640CNV Loss21882294
nsv878632CNV Loss21882294
nsv525830CNV Loss19592680
nsv469529CNV Loss16826518
nsv878660CNV Loss21882294
nsv4228CNV Loss18451855

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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
2 diseases for DEFB131:    About MalaCards
prostatitis    


DEFB131 for disorders           About GeneDecksing


Export disorders for DEFB131 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)
About This Section

PubMed articles for DEFB131 gene integrated from 9 sources:
(articles sorted by number of sources associating them with DEFB131)
    Utopia: connect your pdf to the dynamic
world of online information

  1. ORFeome-based search of airway epithelial cell-specific novel human [beta]-defensin genes. (PubMed id 12600824)1, 2, 3 Kao C.Y....Wu R. (2003)
  2. Cross-species analysis of the mammalian beta-defensin gene family: presence of syntenic gene clusters and preferential expression in the male reproductive tract. (PubMed id 16033865)1, 3 Patil A.A.... Zhang G. (2005)
  3. Discovery of five conserved beta-defensin gene clusters using a computational search strategy. (PubMed id 11854508)1, 3 Schutte B.C.... McCray P.B. Jr. (2002)
  4. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)2 Hillier L.W....Wilson R.K. (2005)
  5. 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)

(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: 644414 HGNC: 18108 Ensembl:ENSG00000186146 euGenes: HUgn644414 ECgene: DEFB131
H-InvDB: DEFB131

(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 DEFB131 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 DEFB131 gene:
Search GeneIP for patents involving DEFB131

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
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About This Section

 
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 Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DEFB131
 inGenious Targeting Laboratory - Custom generated mouse model solutions for DEFB131
 inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for DEFB131
Customized:
 lentivirus for stable overexpression of DEFB131
 lentivirus expression plasmids for stable overexpression of DEFB131
 adenovirus for overexpression of DEFB131
 LSBio Antibodies in human, mouse, rat for DEFB131
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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Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

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