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

DEFB4B Gene

protein-coding   GIFtS: 33
GCID: GC08M007272

Defensin, Beta 4B

(Previous names: defensin, beta 4, pseudogene)
(Previous symbol: DEFB4P)
Microbiology & Infectious Diseases Congress
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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)
About This Section

Aliases
Defensin, Beta 4B1 2     DEFB43
DEFB4P1 2     SAP13
Defensin, Beta 4, Pseudogene1 2     Beta-Defensin 23
Beta-Defensin 4B2     Defensin, Beta 23
BD-23     hBD-23
DEFB1023     Skin-Antimicrobial Peptide 13
DEFB23     

External Ids:    HGNC: 301931   Entrez Gene: 1002894622   Ensembl: ENSG000001772577   UniProtKB: O152633   

Export aliases for DEFB4B gene to outside databases


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

GeneCards Summary for DEFB4B Gene: 
DEFB4B (defensin, beta 4B) is a protein-coding gene. An important paralog of this gene is DEFB4A.

UniProtKB/Swiss-Prot: DFB4A_HUMAN, O15263
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_000008.10  NC_018919.2  NT_023736.17  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for DEFB4B
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidDEFB4B promoter sequence
   Search SABiosciences Chromatin IP Primers for DEFB4B

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DEFB4B


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

Entrez Gene cytogenetic band: 8p23.1   Ensembl cytogenetic band:  8p23.1   HGNC cytogenetic band: 8p23.1

DEFB4B Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DEFB4B gene location

GeneLoc information about chromosome 8         GeneLoc Exon Structure

GeneLoc location for GC08M007272:  view genomic region     (about GC identifiers)

Start:
7,272,382 bp from pter      End:
7,274,385 bp from pter
Size:
2,004 bases      Orientation:
minus 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: DFB4A_HUMAN, O15263 (See protein sequence)
Recommended Name: Beta-defensin 4A precursor  
Size: 64 amino acids; 7038 Da
Subcellular location: Secreted
4 PDB 3D structures from and Proteopedia for DEFB4B:
1E4Q (3D)        1FD3 (3D)        1FD4 (3D)        1FQQ (3D)    
Secondary accessions: Q52LC0

Explore the universe of human proteins at neXtProt for DEFB4B: NX_O15263

DEFB4B Protein expression data from MOPED1, PaxDb2 and MAXQB3 : --

REFSEQ proteins: NP_001192195.1  
ENSEMBL proteins: 
 ENSP00000424598  
Reactome Protein details: O15263
Human Recombinant Protein Products for DEFB4B: 
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Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005576extracellular region ----
GO:0005796Golgi lumen ----

DEFB4B 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

2 InterPro protein domains:
 IPR001855 Defensin_beta-typ
 IPR006080 Defensin_beta/neutrophil

Graphical View of Domain Structure for InterPro Entry O15263

ProtoNet protein and cluster: O15263

1 Blocks protein domain: IPB001855 Beta defensin

UniProtKB/Swiss-Prot: DFB4A_HUMAN, O15263
Similarity: Belongs to the beta-defensin family. LAP/TAP subfamily


DEFB4B 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: DFB4A_HUMAN, O15263
Function: Has antibacterial activity (Potential)
Induction: By inflammation

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

Pathways by sourceSee SuperPaths
Show all pathways


4        Reactome Pathways for DEFB4B
    Defensins
Beta defensins
Immune System
Innate Immune System



DEFB4B for pathways           About GeneDecksing

Interactions:

    Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for DEFB4B

5 Interacting proteins for DEFB4B (O152633) via UniProtKB, MINT, STRING, and/or I2D
InteractantInteraction Details
GeneCardExternal ID(s)
CCR6P516843I2D: score=1 
HMGN2P052043I2D: score=1 
MMP7P092373I2D: score=1 
RELAQ042063I2D: score=1 
TLR4O002063I2D: score=1 
About this table

Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0006935chemotaxis ----
GO:0006952defense response ----
GO:0006955immune response ----
GO:0007186G-protein coupled receptor signaling pathway ----
GO:0042742defense response to bacterium ----

DEFB4B 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 DEFB4B (DFB4A)

Search CenterWatch for drugs/clinical trials and news about DEFB4B / DFB4A

(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 DEFB4B gene: 
NM_001205266.1  

Unigene Cluster for DEFB4B:

Defensin, beta 4B
Hs.740237
Unigene Representative Sequence: NM_001205266
1 Ensembl transcript including schematic representation, and UCSC links where relevant:
ENST00000318157(uc022arf.1)
Congresses - knowledge worth sharing:  
European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

miRNA
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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

DEFB4B expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: --
DEFB4B Expression
About this image


SOURCE GeneReport for Unigene cluster: Hs.740237

UniProtKB/Swiss-Prot: DFB4A_HUMAN, O15263
Tissue specificity: Expressed in the skin and respiratory tract

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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
  --

ENSEMBL Gene Tree for DEFB4B (if available)
TreeFam Gene Tree for DEFB4B (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
Paralogs for DEFB4B gene
DEFB4A1 2  
2 SIMAP similar genes for DEFB4B using alignment to 1 protein entry:     DFB4A_HUMAN:
DEFB103A    DEFB103B

DEFB4B 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) 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

10/87 SNPs in DEFB4B are shown (see all 87)    About this table     
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 8 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1440727481,2
C--7272329(+) GATGGC/TCTGCC 1 -- ds50010--------
rs27379131,2
C--7272356(-) TTGTGA/GTCATT 1 -- ds50010--------
rs1401317351,2
C--7272379(+) AGATTC/GCGTAT 1 -- ds50010--------
rs2008039651,2
C,F--7272439(+) AGGGAG/ACCCTT 1 -- ut311Minor allele frequency- A:0.06EU 311
rs2018249681,2
C--7272594(+) GTAACA/GGGATC 2 P syn10--------
rs1901467451,2
--7272899(+) CCTCCA/GGGTGG 1 -- int10--------
rs1448049401,2
C--7272911(+) GTCTGA/GTAGGA 1 -- int10--------
rs1811663571,2
--7272926(+) AGCAAC/TGATCT 1 -- int10--------
rs736613581,2
C--7273050(+) TTTGAC/TCTGAG 1 -- int11Minor allele frequency- T:0.50WA 2
rs1860507661,2
--7273115(+) GTAACC/TTACAG 1 -- int10--------

HapMap Linkage Disequilibrium report for DEFB4B (7272382 - 7274385 bp)

Structural Variations
     Database of Genomic Variants (DGV) 10/44 variations for DEFB4B (see all 44):    About this table     
Variant IDTypeSubtypePubMed ID
esv2736558CNV Deletion23290073
nsv890153CNV Loss21882294
dgv31n14CNV Loss18776910
dgv7664n71CNV Loss21882294
dgv7675n71CNV Loss21882294
dgv7670n71CNV Loss21882294
nsv824519CNV Loss20364138
nsv890085CNV Loss21882294
dgv7663n71CNV Loss21882294
dgv7679n71CNV Gain21882294

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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
  --

(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 DEFB4B gene integrated from 9 sources:
(articles sorted by number of sources associating them with DEFB4B)
    Utopia: connect your pdf to the dynamic
world of online information

  1. 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)
  2. Chemical synthesis of beta-defensins and LEAP-1/hepcidin. (PubMed id 12010514)2 Kluever E.... Adermann K. (2002)
  3. Structure determination of human and murine beta-defensins reveals structural conservation in the absence of significant sequence similarity. (PubMed id 11714914)2 Bauer F.... Sticht H. (2001)
  4. The structure of human beta-defensin-2 shows evidence of higher order oligomerization. (PubMed id 10906336)2 Hoover D.M.... Lubkowski J. (2000)
  5. Transcriptional regulation of beta-defensin gene expression in tracheal epithelial cells. (PubMed id 10603376)2 Diamond G.... Bevins C.L. (2000)
  6. Mucoid Pseudomonas aeruginosa, TNF-alpha, and IL-1beta, but not IL-6, induce human beta-defensin-2 in respiratory epithelia. (PubMed id 10837369)2 Harder J.... Schroeder J.-M. (2000)
  7. Shotgun sequencing of the human transcriptome with ORF expressed sequence tags. (PubMed id 10737800)1 Dias Neto E....Simpson A.J.G. (2000)
  8. Structure and mapping of the human beta-defensin HBD-2 gene and its expression at sites of inflammation. (PubMed id 9831658)2 Liu L.... Ganz T. (1998)
  9. A peptide antibiotic from human skin. (PubMed id 9202117)2 Harder J.... Schroeder J.-M. (1997)

(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: 100289462 HGNC: 30193 Ensembl:ENSG00000177257 euGenes: HUgn100289462 ECgene: DEFB4B
H-InvDB: DEFB4B

(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 DEFB4B 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 DEFB4B gene:
Search GeneIP for patents involving DEFB4B

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

 
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 Browse Proteins at Cloud-Clone Corp.
 Browse Antibodies at Cloud-Clone Corp.
 Browse ELISAs at Cloud-Clone Corp.
 Browse CLIAs at Cloud-Clone Corp.
 Search LifeMap BioReagents cell lines for DEFB4B
 Gene Synthesis
 Protein Engineering
 Variant Library Synthesis
 Codon Optimization
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 Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DEFB4B
 SwitchGear 3'UTR luciferase reporter plasmids for DEFB4B
 SwitchGear Promoter luciferase reporter plasmids for DEFB4B
 Search ThermoFisher Antibodies for DEFB4B
 Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat DEFB4B
 inGenious Targeting Laboratory - Custom generated mouse model solutions for DEFB4B
 inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for DEFB4B
Customized:
 lentivirus for stable overexpression of DEFB4B
 lentivirus expression plasmids for stable overexpression of DEFB4B
 adenovirus for overexpression of DEFB4B
 Search LSBio for Antibodies for DEFB4B
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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transforming growth factor, beta 1
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