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DEFB115 Gene

protein-coding   GIFtS: 36
GCID: GC20P029845

Defensin, Beta 115

  Search for DEFB115
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 1151 2 3
Beta-Defensin 152 3
DEFB-152 3
Beta-Defensin 1152
Defensin, Beta 152
DEFB153

External Ids:    HGNC: 180961   Entrez Gene: 2459292   Ensembl: ENSG000002155477   UniProtKB: Q30KQ53   

Export aliases for DEFB115 gene to outside databases

Previous GC identifers: GC20U990231 GC20P029309 GC20P026634


(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 DEFB115 Gene:
DEFB115 (defensin, beta 115) is a protein-coding gene.

UniProtKB/Swiss-Prot: DB115_HUMAN, Q30KQ5
Function: Has antibacterial activity (By similarity)




(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:
NC_000020.11  NC_018931.2  NT_011362.11  
Regulatory elements:
   Regulatory transcription factor binding sites in the DEFB115 gene promoter:
         FOXF2   AML1a   FOXO4   SEF-1 (1)   FOXO1a   FOXD1   FOXO1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidDEFB115 promoter sequence
   Search Chromatin IP Primers for DEFB115

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat DEFB115


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

Entrez Gene cytogenetic band: 20q11.1   Ensembl cytogenetic band:  20q11.21   HGNC cytogenetic band: 20q11.1

DEFB115 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DEFB115 gene location

GeneLoc information about chromosome 20         GeneLoc Exon Structure

GeneLoc location for GC20P029845:  view genomic region     (about GC identifiers)

Start:
29,845,467 bp from pter      End:
29,847,435 bp from pter
Size:
1,969 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, 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., 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: DB115_HUMAN, Q30KQ5 (See protein sequence)
Recommended Name: Beta-defensin 115 precursor  
Size: 88 amino acids; 10071 Da

Explore the universe of human proteins at neXtProt for DEFB115: NX_Q30KQ5

REFSEQ proteins: NP_001032819.1  
ENSEMBL proteins: 
 ENSP00000383398  
Reactome Protein details: Q30KQ5

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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

ProtoNet protein and cluster: Q30KQ5

UniProtKB/Swiss-Prot: DB115_HUMAN, Q30KQ5
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, 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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

     UniProtKB/Swiss-Prot Summary: DB115_HUMAN, Q30KQ5
Function: Has antibacterial activity (By similarity)

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
DB115_HUMAN, Q30KQ5: Secreted (By similarity)
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--

DEFB115 for ontologies           About GeneDecksing


(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 DEFB115 About    
See pathways by source

SuperPathContained pathways About
1Defensins
Defensins0.80
Beta defensins0.80

Pathways by source                                                                                                                                                                 See SuperPaths
Show all pathways


2 Reactome Pathways for DEFB115
    Defensins
Beta defensins



DEFB115 for pathways           About GeneDecksing

    Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for DEFB115
Interactions:

    Search GeneGlobe Interaction Network for DEFB115

Gene Ontology (GO): 1 biological process term:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0042742defense response to bacterium IEA--

DEFB115 for ontologies           About GeneDecksing



(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 DEFB115 (DB115)



(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, Primers from OriGene, and/or QIAGEN )
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REFSEQ mRNAs for DEFB115 gene: 
NM_001037730.1  

Unigene Cluster for DEFB115:

Defensin, beta 115
Hs.580793
Unigene Representative Sequence: DQ012019
1 Ensembl transcript including schematic representation, and UCSC links where relevant:
ENST00000400552(uc002wvp.1)
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Additional mRNA sequence: DQ012019.1 

1 DOTS entry:

DT.120822923 

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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DEFB115 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: CAAAGAAATT
DEFB115 Expression
About this image

DEFB115 Protein expression data from MOPED1, PaxDb2 and MaxQB3 --

SOURCE GeneReport for Unigene cluster: Hs.580793
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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)
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This gene was present in the common ancestor of human and mouse.

Orthologs for DEFB115 gene from Selected species (see all 2)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Defb285 defensin beta 28   --   2 (75.20 cM) 152518255 


ENSEMBL Gene Tree for DEFB115 (if available)
TreeFam Gene Tree for DEFB115 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for DEFB115 gene
8 SIMAP similar genes for DEFB115 using alignment to 1 protein entry:     DB115_HUMAN:
DEFB118    DEFB126    DEFB123    DEFB117    DEFB128    DEFB104A
DEFB104B    DEFB121

DEFB115 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), 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 DEFB115 (see all 152)    About this table    
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 20 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1444106881,2
C--29843494(+) CACACC/TCACAC 1 -- us2k10--------
rs1508408321,2
C--29843510(+) CGTAT-/ATCATATT 1 -- us2k10--------
rs1425316941,2
C--29843552(+) TCCTA-/TGTGCC 1 -- us2k10--------
rs1122821241,2
C,F--29843556(+) ATGTGT/CCTTAC 1 -- us2k12Minor allele frequency- C:0.33CSA 3
rs1479186651,2
--29843583(+) ATACAC/TGTATA 1 -- us2k10--------
rs49114811,2
C,F,H--29843709(+) TGTGTG/CCCTTT 1 -- us2k111Minor allele frequency- C:0.07NS EA NA 1064
rs1140531181,2
F--29843719(+) TCACAC/TGCACA 1 -- us2k11Minor allele frequency- T:0.02WA 118
rs557218491,2
C--29843720(+) CACACA/GCACAC 1 -- us2k10--------
rs1883479801,2
--29843726(+) CACACA/CCGCAC 1 -- us2k10--------
rs49114821,2
C,F,A,H--29843728(+) CACCCA/GCACAC 1 -- us2k114Minor allele frequency- G:0.29NS EA NA WA CSA 782

HapMap Linkage Disequilibrium report for DEFB115 (29845467 - 29847435 bp)

Structural Variations
     Database of Genomic Variants (DGV) 3 variations for DEFB115:    About this table    
Variant IDTypeSubtypePubMed ID
nsv458960CNV Gain19166990
nsv470546CNV Gain18288195
nsv833951CNV Gain+Loss17160897

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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 DEFB115 gene integrated from 10 sources:
(articles sorted by number of sources associating them with DEFB115)
    Utopia: connect your pdf to the dynamic
world of online information

  1. 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, 2, 3 Patil A.A.... Zhang G. (Physiol. Genomics 2005)
  2. 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)
  3. The DNA sequence and comparative analysis of human chromosome 20. (PubMed id 11780052)1, 2 Deloukas P....Rogers J. (Nature 2001)

(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: 245929 HGNC: 18096 Ensembl:ENSG00000215547 euGenes: HUgn245929 ECgene: DEFB115
H-InvDB: DEFB115

(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 DEFB115 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 DEFB115 gene:
Search GeneIP for patents involving DEFB115

GeneCards and IP:
Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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