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DEFB114 Gene

protein-coding   GIFtS: 42
GCID: GC06M049928

Defensin, Beta 114

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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 1141 2 3
DEFB142 3 5
Beta-Defensin 142 3
DEFB-142 3
Beta-Defensin 1142
Defensin, Beta 142

External Ids:    HGNC: 180951   Entrez Gene: 2459282   Ensembl: ENSG000001776847   OMIM: 6152435   UniProtKB: Q30KQ63   

Export aliases for DEFB114 gene to outside databases

Previous GC identifers: GC06U990317 GC06M049924 GC06M049974 GC06M050035 GC06M049659


(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 DEFB114 Gene:
DEFB114 (defensin, beta 114) is a protein-coding gene. GO annotations related to this gene include lipopolysaccharide binding.

UniProtKB/Swiss-Prot: DB114_HUMAN, Q30KQ6
Function: Has a salt-sensitive antimicrobial activity against Gram-negative bacteria, including E.coli,
Gram-positive, including S.aureus, and fungi, including C.albicans. Binds to and neutralizes bacterial
lipopolysaccharides (LPS), abolishing TNF production by macrophages challenged with LPS. Rescues the LPS-induced
reduction of sperm motility in vitro and may protect from LPS-induced lethality




(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_000006.11  NC_018917.2  NT_007592.16  
Regulatory elements:
   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
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Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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, 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: DB114_HUMAN, Q30KQ6 (See protein sequence)
Recommended Name: Beta-defensin 114 precursor  
Size: 69 amino acids; 8318 Da
Secondary accessions: Q8NES9

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

REFSEQ proteins: NP_001032588.1  
ENSEMBL proteins: 
 ENSP00000312702  
Reactome Protein details: Q30KQ6

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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 Q30KQ6

ProtoNet protein and cluster: Q30KQ6

1 Blocks protein domain: IPB001855 Beta defensin

UniProtKB/Swiss-Prot: DB114_HUMAN, Q30KQ6
Similarity: Belongs to the beta-defensin family


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(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: DB114_HUMAN, Q30KQ6
Function: Has a salt-sensitive antimicrobial activity against Gram-negative bacteria, including E.coli,
Gram-positive, including S.aureus, and fungi, including C.albicans. Binds to and neutralizes bacterial
lipopolysaccharides (LPS), abolishing TNF production by macrophages challenged with LPS. Rescues the LPS-induced
reduction of sperm motility in vitro and may protect from LPS-induced lethality

     Gene Ontology (GO): 1 molecular function term:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0001530lipopolysaccharide binding IDA--
     
Find genes that share ontologies with DEFB114           About GenesLikeMe


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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
DB114_HUMAN, Q30KQ6: Secreted (By similarity)
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
extracellular3
cytosol1
mitochondrion1

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 DEFB114 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 DEFB114
    Defensins
Beta defensins


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Interactions:

    Search GeneGlobe Interaction Network for DEFB114

Gene Ontology (GO): 2 biological process terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0031665negative regulation of lipopolysaccharide-mediated signaling pathway IDA--
GO:0042742defense response to bacterium IEA--

Find genes that share ontologies with DEFB114           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 DEFB114 (DB114)



(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 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)
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Additional mRNA 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™, 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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DEFB114 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: TACCTTGGTG
DEFB114 Expression
About this image

DEFB114 Protein expression data from MOPED1, PaxDb2 and MaxQB3 --

SOURCE GeneReport for Unigene cluster: Hs.381372

UniProtKB/Swiss-Prot: DB114_HUMAN, Q30KQ6
Tissue specificity: Expressed in epididymis, predominantly in the caput (at protein level)

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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 DEFB114 gene from 1 species (see representative species )    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
chimpanzee
(Pan troglodytes)
Mammalia DEFB1141 defensin, beta 114 96.62(n)
91.3(a)
  740569  XM_001149183.2  XP_001149183.1 


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)
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Paralogs for DEFB114 gene
1 SIMAP similar gene for DEFB114 using alignment to 1 protein entry:     DB114_HUMAN:
DEFB131

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(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 DEFB114 (see all 122)    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
      Database of Genomic Variants (DGV) variations for DEFB114: --
Site Specific Mutation Identification with PCR Assays
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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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OMIM gene information: 615243    OMIM disorders: --


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Genetic Association Database (GAD): DEFB114
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)
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PubMed articles for DEFB114 gene integrated from 10 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. (Physiol. Genomics 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. (Proc. Natl. Acad. Sci. U.S.A. 2002)
  3. The novel human I^-defensin 114 regulates lipopolysaccharide (LPS)-mediated inflammation and protects sperm from motility loss. (PubMed id 23482568)1, 2 Yu H....Diao H. (J. Biol. Chem. 2013)
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
  5. Mouse beta-defensin-14, an antimicrobial ortholog of human beta-defensin-3. (PubMed id 18332171)9 Hinrichsen K....Proksch E. (Antimicrob. Agents Chemother. 2008)
  6. 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. (J. Biol. Chem. 2008)
  7. Molecular diversity of the antimicrobial domain of beta-defensin 3 and homologous peptides. (PubMed id 19888439)9 Nava G.M....CastaA+eda M.P. (Comp. Funct. Genomics 2009)
  8. Identification and Biological Characterization of Mouse beta-defensin 14, the orthologue of human beta-defensin 3. (PubMed id 18167348)9 RAPhrl J....Hehlgans T. (J. Biol. Chem. 2008)

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

(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 DEFB114 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 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, 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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 Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DEFB114
 Browse SwitchGear 3'UTR luciferase reporter plasmids for DEFB114
 SwitchGear Promoter luciferase reporter plasmids for DEFB114
 Search ThermoFisher Antibodies for DEFB114
 Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DEFB114
 Browse compounds at ApexBio
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  eBioscience FlowRNA Probe Sets
 genOway: Develop your customized and physiologically relevant rodent model for DEFB114
 antibodies-online antibodies for DEFB114 (4 products)
 antibodies-online kits for DEFB114 (9 products)
  Search antibodies-online for peptides for DEFB114
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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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