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

DEFB114 Gene

protein-coding   GIFtS: 39
GCID: GC06M049928

defensin, beta 114

  Search for DEFB114
in our new
 Human Malady Compendium 
Biological research products
for DEFB114
    

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

Aliases
Defensin, Beta 1141 2 3
DEFB-141 2 3
Beta-Defensin 142 3
Beta-Defensin 1142
Defensin, Beta 142
DEFB143

External Ids:    HGNC: 180951   Entrez Gene: 2459282   Ensembl: ENSG000001776847   UniProtKB: Q30KQ63   

Export aliases for DEFB114 gene to outside databases

Previous GC identifers: GC06U990317 GC06M049924 GC06M049974 GC06M050035 GC06M049659


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

UniProtKB/Swiss-Prot: DB114_HUMAN, Q30KQ6
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000006.11  NC_018917.1  NT_007592.15  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the DEFB114 gene promoter:
         TBP   STAT5B   C/EBPbeta   AML1a   FOXO3b   SRY   FAC1   TFIID   FOXO3a   MRF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidDEFB114 promoter sequence
   Search SABiosciences Chromatin IP Primers for DEFB114

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DEFB114


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

Entrez Gene cytogenetic band: 6p12.3   Ensembl cytogenetic band:  6p12.3   HGNC cytogenetic band: 6p12.3

DEFB114 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DEFB114 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06M049928:  view genomic region     (about GC identifiers)

Start:
49,927,962 bp from pter      End:
49,931,818 bp from pter
Size:
3,857 bases      Orientation:
minus 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: DB114_HUMAN, Q30KQ6 (See protein sequence)
Recommended Name: Beta-defensin 114 precursor  
Size: 69 amino acids; 8318 Da
Subcellular location: Secreted (By similarity)
Secondary accessions: Q8NES9

Explore the universe of human proteins at neXtProt for DEFB114: NX_Q30KQ6

DEFB114 Protein expression data from MOPED and PaxDb:    About this image 

Estimated protein expression log10 (pmol).

REFSEQ proteins: NP_001032588.1  
ENSEMBL proteins: 
 ENSP00000312702  
Reactome Protein details: Q30KQ6
Human Recombinant Protein Products: 
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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--


DEFB114 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

DEFB114 for domains           About GeneDecksing

1 InterPro domain/family:
 IPR025933 Beta_defensin

Graphical View of Domain Structure for InterPro Entry Q30KQ6

ProtoNet protein and cluster: Q30KQ6

1 Blocks protein family: IPB001855 Beta defensin

UniProtKB/Swiss-Prot: DB114_HUMAN, Q30KQ6
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: DB114_HUMAN, Q30KQ6
Function: Has antibacterial activity (By similarity)

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(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 DEFB114 (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



DEFB114 for pathways           About GeneDecksing

Interactions:

    Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for DEFB114

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--


DEFB114 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 DEFB114
Search CenterWatch for drugs/clinical trials and news about DEFB114 / DB114 

(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,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
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 DEFB114 gene: 
NM_001037499.1  

Unigene Cluster for DEFB114:

Defensin, beta 114
Hs.381372
Unigene Representative Sequence: DQ012018
1 Ensembl transcript including schematic representation, and UCSC links where relevant:
ENST00000322066(uc011dwp.2)

miRNA
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Inhib. RNA
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Additional cDNA sequence: 

AY122470.1 DQ012018.1 

1 DOTS entry:

DT.99927641 

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

DEFB114 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TACCTTGGTG

Microarray
RNAseq (Illumina Body Map)
(100×FPKM)½
SAGE (Serial Analysis of Gene Expression)

About this image
See DEFB114 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for DEFB114

SOURCE GeneReport for Unigene cluster: Hs.381372
    SABiosciences Custom PCR Arrays for DEFB114
Primer
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In Situ
Assay Products:
 

 
Search Advanced Cell Diagnostics for RNAscope RNA in situ hybridization assays for DEFB114

(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 DEFB114 (if available)
TreeFam Gene Tree for DEFB114 (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

10/99 NCBI SNPs in DEFB114 are shown (see all 99    About this table
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 6 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs737372701,2
C,F,--49927623(+) TGTGTC/TTTGAC 1 -- ds50014Minor allele frequency- T:0.08WA CSA NA EA 244
rs1889587321,2
--49927775(+) TAGACC/TTAAAG 1 -- ds50010--------
rs1465694851,2
C,--49927973(+) ACATGC/TAACTT 1 -- ds50010--------
rs1139452471,2
F--49928010(+) TCAAAG/ACATAT 2 /L /F mis11Minor allele frequency- A:0.50CSA 6
rs1417789791,2
F--49928014(+) AACATA/GTCATC 2 D syn11Minor allele frequency- G:0.00NA 4512
rs753672521,2
C,--49928091(+) ACTCTA/CAAGAC 2 E * stg10--------
rs1460200381,2
C--49928111(+) TACAAC/AGACCG 2 /R /L mis11Minor allele frequency- A:0.00NA 4530
rs2001887511,2
--49928113(+) CAACGA/CCCGTA 2 G syn10--------
rs177367821,2
C,F,H,--49928116(+) CGACCG/ATAACG 2 /Y syn1 ese327Minor allele frequency- A:0.09NA NS EA WA CSA EU 8760
rs1125430861,2
C,--49928135(+) AACGAC/G/TCAGCA 3 D A G mis11CSA 2

HapMap Linkage Disequilibrium report for DEFB114 (49927962 - 49931818 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
      Database of Genomic Variants (DGV) variations for DEFB114: --

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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

DEFB114 for disorders           About MalaCards

DEFB114 for disorders           About GeneDecksing

Human Genome Epidemiology (HuGE) Navigator: DEFB114 (1 document)

Export disorders for DEFB114 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 DEFB114 gene integrated from 9 sources:
(articles sorted by number of sources associating them with DEFB114)
    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. (2005)
  2. Discovery of five conserved beta-defensin gene clusters using a computational search strategy. (PubMed id 11854508)1, 2, 3 Schutte B.C.... McCray P.B. Jr. (2002)
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1 Rose J.E....Uhl G.R. (2010)
  4. Mouse beta-defensin-14, an antimicrobial ortholog of human beta-defensin-3. (PubMed id 18332171)9 Hinrichsen K....Proksch E. (2008)
  5. Analysis and separation of residues important for the chemoattractant and antimicrobial activities of beta-defensin 3. (PubMed id 18180295)9 Taylor K....Dorin J.R. (2008)
  6. Molecular diversity of the antimicrobial domain of be ta-defensin 3 and homologous peptides. (PubMed id 19888439)9 Nava G.M....CastaA+eda M.P. (2009)
  7. Identification and Biological Characterization of Mouse beta-defensin 14, the orthologue of human beta-defensin 3. (PubMed id 18167348)9 Rohrl J....Hehlgans T. (2008)

(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: 245928 HGNC: 18095 Ensembl:ENSG00000177684 euGenes: HUgn245928 ECgene: DEFB114
H-InvDB: DEFB114

(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 DEFB114 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 DEFB114 gene:
Search GeneIP for patents involving DEFB114

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, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, 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),
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