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DEFB131 Gene

protein-coding   GIFtS: 38
GCID: GC04P009446

Defensin, Beta 131

  Search for DEFB131
at  

(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 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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for DEFB131 Gene:
DEFB131 (defensin, beta 131) is a protein-coding gene. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000004.11  NC_018915.2  NT_006316.17  
Regulatory elements:
   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:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 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., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: DB131_HUMAN, P59861 (See protein sequence)
Recommended Name: Beta-defensin 131 precursor  
Size: 70 amino acids; 8199 Da

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

REFSEQ proteins: NP_001035538.2  
ENSEMBL proteins: 
 ENSP00000335538  
Reactome Protein details: P59861

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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 P59861

ProtoNet protein and cluster: P59861

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


Find genes that share domains with DEFB131           About GenesLikeMe


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

Animal Models:

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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
DB131_HUMAN, P59861: Secreted (Potential)
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
extracellular3

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

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

Find genes that share ontologies with DEFB131           About GenesLikeMe


(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 DEFB131 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 DEFB131
    Defensins
Beta defensins


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Interactions:

    Search GeneGlobe Interaction Network for DEFB131

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 DEFB131           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 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,
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 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)
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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™, 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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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

DEFB131 Protein expression data from MOPED1, PaxDb2 and MaxQB3 --

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

Orthologs for DEFB131 gene from Selected 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)
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Paralogs for DEFB131 gene
LOC100129216  
1 SIMAP similar gene for DEFB131 using alignment to 1 protein entry:     DB131_HUMAN:
DEFB114

Find genes that share paralogs with DEFB131           About GenesLikeMe


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), 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 DEFB131 (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) Selected 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, 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 DEFB131 gene integrated from 10 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. (Am. J. Respir. Cell Mol. Biol. 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. (Physiol. Genomics 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. (Proc. Natl. Acad. Sci. U.S.A. 2002)
  4. Genome-scale RNAi screen for host factors required for HIV replication. (PubMed id 18976975)1 Zhou H....Espeseth A.S. (amp 2008)
  5. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)2 Hillier L.W.... Wilson R.K. (Nature 2005)
  6. 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)

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

(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 DEFB131 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 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, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, 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
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