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

DEFB1 Gene

protein-coding   GIFtS: 59
GCID: GC08M006715

Defensin, Beta 1

Microbiology & Infectious Diseases Congress
  See related diseases
at  

(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 11 2 3     DEFB1012
BD-12 3     Beta-Defensin 12
BD12 3     beta-defensin-12
HBD12 3     hBD-13
DEFB-12     

External Ids:    HGNC: 27661   Entrez Gene: 16722   Ensembl: ENSG000001648257   OMIM: 6020565   UniProtKB: P600223   

Export aliases for DEFB1 gene to outside databases

Previous GC identifers: GC08M006792 GC08M006982 GC08M006508


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

Entrez Gene summary for DEFB1 Gene:
Defensins form a family of microbicidal and cytotoxic peptides made by neutrophils. Members of the defensin family
are highly similar in protein sequence. This gene encodes defensin, beta 1, an antimicrobial peptide implicated
in the resistance of epithelial surfaces to microbial colonization. This gene maps in close proximity to defensin
family member, defensin, alpha 1 and has been implicated in the pathogenesis of cystic fibrosis. (provided by
RefSeq, Jul 2008)

GeneCards Summary for DEFB1 Gene: 
DEFB1 (defensin, beta 1) is a protein-coding gene. Diseases associated with DEFB1 include gingival disease, and corneal abscess, and among its related super-pathways are Defensins and Immune System.

UniProtKB/Swiss-Prot: DEFB1_HUMAN, P60022
Function: Has bactericidal activity (By similarity)

Gene Wiki entry for DEFB1 (Defensin, beta 1) Gene


(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:
   SABiosciences Regulatory transcription factor binding sites in the DEFB1 gene promoter:
         GR   p53   GR-alpha   NF-kappaB1   C/EBPalpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidDEFB1 promoter sequence
   Search SABiosciences Chromatin IP Primers for DEFB1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DEFB1


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

DEFB1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DEFB1 gene location

GeneLoc information about chromosome 8         GeneLoc Exon Structure

GeneLoc location for GC08M006715:  view genomic region     (about GC identifiers)

Start:
6,728,097 bp from pter      End:
6,735,544 bp from pter
Size:
7,448 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: DEFB1_HUMAN, P60022 (See protein sequence)
Recommended Name: Beta-defensin 1 precursor  
Size: 68 amino acids; 7420 Da
Subcellular location: Secreted
Mass spectrometry: Mass=3928; Mass_error=0.5; Method=Electrospray; Range=33-68; Source=PubMed:7628632;
6/15 PDB 3D structures from and Proteopedia for DEFB1 (see all 15):
1E4S (3D)        1IJU (3D)        1IJV (3D)        1KJ5 (3D)        2NLB (3D)        2NLC (3D)    
Secondary accessions: Q09753

Explore the universe of human proteins at neXtProt for DEFB1: NX_P60022

Explore proteomics data for DEFB1 at MOPED 

DEFB1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

DEFB1 Protein Expression

REFSEQ proteins: NP_005209.1  
ENSEMBL proteins: 
 ENSP00000297439  
Reactome Protein details: P60022
Human Recombinant Protein Products for DEFB1: 
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OriGene Protein Over-expression Lysate for DEFB1
OriGene Custom MassSpec 
OriGene Custom Protein Services for DEFB1
GenScript Purified and Recombinant Proteins for DEFB1
Novus Biologicals DEFB1 Proteins
Novus Biologicals DEFB1 Lysate
Browse Sino Biological Recombinant Proteins
Browse Sino Biological Cell Lysates 
ProSpec Recombinant Protein for DEFB1
Browse Proteins at Cloud-Clone Corp. 

Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

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

DEFB1 for ontologies           About GeneDecksing



DEFB1 Antibody Products: 
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ThermoFisher Antibody for DEFB1
LSBio Antibodies in human, mouse, rat for DEFB1 

Assay Products for DEFB1: 
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Browse ELISAs at Cloud-Clone Corp. 
Browse CLIAs at Cloud-Clone Corp.


(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

1 InterPro protein domain:
 IPR001855 Defensin_beta-typ

Graphical View of Domain Structure for InterPro Entry P60022

ProtoNet protein and cluster: P60022

UniProtKB/Swiss-Prot: DEFB1_HUMAN, P60022
Similarity: Belongs to the beta-defensin family


DEFB1 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: DEFB1_HUMAN, P60022
Function: Has bactericidal activity (By similarity)

     Genatlas biochemistry entry for DEFB1:
defensin beta 1,3-4kDa,expressed in many epithelial tissues,implicated in the resistance to microbial
colonization,oxygen independent phagocytosis of Gram+,Gram- bacteria,many fungi,some viruses,within 100-150kb of
DEFA cluster

Phenotypes:
     3 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Defb1):
 immune system  mortality/aging  renal/urinary system 

DEFB1 for phenotypes           About GeneDecksing

Animal Models:
     MGI mouse knock-outs for DEFB1: Defb1tm1Hgu Defb1tm1Jmw

   inGenious Targeting Laboratory - Custom generated mouse model solutions for DEFB1 
   inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for DEFB1

   genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for DEFB1 
   genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for DEFB1 

miRNA
Products:
    
QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat DEFB1
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SwitchGear 3'UTR luciferase reporter plasmidDEFB1 3' UTR sequence
Inhib. RNA
Products:
    
Browse for Gene Knock-down Tools from EMD Millipore
OriGene RNAi products in human, mouse, rat for DEFB1
QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat DEFB1

Gene Editing
Products:
DNA2.0 Custom Protein Engineering Service for DEFB1
Sirion Biotech Customized adenovirus for overexpression of DEFB1

Clone
Products:
     
Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
OriGene clones in human, mouse for DEFB1 (see all 7)
OriGene ORF clones in mouse, rat for DEFB1
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
GenScript: all cDNA clones in your preferred vector: DEFB1 (NM_005218)
Sino Biological Human cDNA Clone for DEFB1
DNA2.0 Custom Codon Optimized Gene Synthesis Service for DEFB1
Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DEFB1
Sirion Biotech Customized lentivirus for stable overexpression of DEFB1 
                     Customized lentivirus expression plasmids for stable overexpression of DEFB1 

Cell Line
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Search LifeMap BioReagents cell lines for DEFB1
In Situ Assay
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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DEFB1


(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

SuperPaths for DEFB1 About                                                                                                See pathways by source

SuperPathContained pathways About
1Beta defensins
Defensins0.80
Beta defensins0.80
2Immune System
Immune System0.56
Innate Immune System0.50

Pathways by source                                                                                                                                                                 See SuperPaths
Show all pathways



4        Reactome Pathways for DEFB1
    Defensins
Beta defensins
Immune System
Innate Immune System



DEFB1 for pathways           About GeneDecksing

Interactions:

    SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for DEFB1

STRING Interaction Network Preview (showing 5 interactants - click image to see 10)

5/12 Interacting proteins for DEFB1 (P600222, 3 ENSP000002974394) via UniProtKB, MINT, STRING, and/or I2D (see all 12)
InteractantInteraction Details
GeneCardExternal ID(s)
MAP4K2Q128512, 3, ENSP000002940664MINT-8260416 I2D: score=2 STRING: ENSP00000294066
CCR6P516843, ENSP000003393934I2D: score=2 STRING: ENSP00000339393
HAP1P542573, ENSP000003340024I2D: score=1 STRING: ENSP00000334002
RIF1Q5UIP03, ENSP000002433264I2D: score=1 STRING: ENSP00000243326
VIMP086703, ENSP000002242374I2D: score=1 STRING: ENSP00000224237
About this table

Gene Ontology (GO): 5/9 biological process terms (GO ID links to tree view) (see all 9):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0002526acute inflammatory response IEA--
GO:0006935chemotaxis TAS10521347
GO:0006952defense response ----
GO:0006955immune response TAS10521347
GO:0007186G-protein coupled receptor signaling pathway TAS10521347

DEFB1 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

DEFB1 for compounds           About GeneDecksing

Browse Small Molecules at EMD Millipore
Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for DEFB1

9 Novoseek inferred chemical compound relationships for DEFB1 gene    About this table
Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
hbd2 95.2 58 14568392 (4), 15325564 (4), 15702860 (3), 12819054 (3) (see all 27)
polymyxin b 35.1 4 19926649 (1), 16801413 (1), 15557634 (1)
dexamethasone 4.41 8 15325564 (3), 11162549 (2), 18433872 (1)
glucose 4.1 12 18178160 (3), 17187760 (2)
nacl 2.79 1 12628001 (1)
heparan sulfate 0 2 8624106 (1), 17142766 (1)
rantes 0 2 16362266 (1), 17068477 (1)
ciprofloxacin 0 1 16801413 (1)
retinoic acid 0 1 15304092 (1)

Search CenterWatch for drugs/clinical trials and news about DEFB1

(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 DEFB1 gene: 
NM_005218.3  

Unigene Cluster for DEFB1:

Defensin, beta 1
Hs.32949  [show with all ESTs]
Unigene Representative Sequence: BG696638
1 Ensembl transcript including schematic representation, and UCSC links where relevant:
ENST00000297439(uc003wqs.2)
Congresses - knowledge worth sharing:  
European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

miRNA
Products:
     
QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat DEFB1
Search QIAGEN for miScript miRNA Assays for microRNAs that regulate DEFB1
SwitchGear 3'UTR luciferase reporter plasmidDEFB1 3' UTR sequence
Inhib. RNA
Products:
     
Browse for Gene Knock-down Tools from EMD Millipore
OriGene RNAi products in human, mouse, rat for DEFB1
QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat DEFB1
Clone
Products:
     
OriGene clones in human, mouse for DEFB1 (see all 7)
OriGene ORF clones in mouse, rat for DEFB1
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
GenScript: all cDNA clones in your preferred vector: DEFB1 (NM_005218)
DNA2.0 Custom Codon Optimized Gene Synthesis Service for DEFB1
Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DEFB1
Sirion Biotech Customized lentivirus for stable overexpression of DEFB1 
                     Customized lentivirus expression plasmids for stable overexpression of DEFB1 
Primer
Products:
    
OriGene qPCR primer pairs and template standards for DEFB1
OriGene qSTAR qPCR primer pairs in human, mouse for DEFB1
SABiosciences RT2 qPCR Primer Assay in human, mouse / rat DEFB1
  QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat DEFB1
  QIAGEN QuantiFast Probe-based Assays in human, mouse, rat DEFB1

Additional mRNA sequence: 

BC033298.1 BC047677.1 U73945.1 X92744.1 Z50788.1 

3 DOTS entries:

DT.409118  DT.100752182  DT.95148882 

24/42 AceView cDNA sequences (see all 42):

BE165509 AI791809 AI733397 AA946653 NM_005218 BC033298 AW467058 X92744 
AI303004 AI347238 U73945 AI344758 BC047677 AI769855 BM923781 AI688522 
BM686890 AI733355 AI791691 AI301290 BX280047 AI688359 BG661201 AI768732 

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

DEFB1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: AGAACTTCCT
DEFB1 Expression
About this image


See DEFB1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for DEFB1

SOURCE GeneReport for Unigene cluster: Hs.32949

UniProtKB/Swiss-Prot: DEFB1_HUMAN, P60022
Tissue specificity: Plasma

    SABiosciences Expression via Pathway-Focused PCR Arrays including DEFB1: 
          Necrosis in human mouse rat
          Molecular Toxicology PathwayFinder 384HT in human mouse rat
          Cell Death PathwayFinder in human mouse rat

Primer
Products:
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SABiosciences RT2 qPCR Primer Assay in human, mouse / rat DEFB1
QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat DEFB1
QIAGEN QuantiFast Probe-based Assays in human, mouse, rat DEFB1
In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DEFB1

(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

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

Orthologs for DEFB1 gene from 1/3 species (see all 3)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Defb15 defensin beta 1   --   8 (10.35 cM) 21776599 


ENSEMBL Gene Tree for DEFB1 (if available)
TreeFam Gene Tree for DEFB1 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
Paralogs for DEFB1 gene
1 SIMAP similar gene for DEFB1 using alignment to 1 protein entry:     DEFB1_HUMAN:
HBD1

DEFB1 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

10/570 SNPs in DEFB1 are shown (see all 570)    About this table     
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 8 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1902593731,2
--6507741(+) CATGTA/GTTGGG 1 -- ds50010--------
rs1122261831,2
C,F--6507755(+) GGCGTC/GGTGGC 1 -- ds50012Minor allele frequency- G:0.10CSA WA 119
rs1814009901,2
--6727612(+) ATCCCA/CGCACT 1 -- ds50010--------
rs29809291,2
C--6727613(-) aagtgA/Ctggga 1 -- ds50010--------
rs1863347451,2
--6727697(+) AAACCA/CTGTCT 1 -- ds50010--------
rs1124150081,2
C--6727703(-) TAGTAA/GAGACA 1 -- ds50010--------
rs1119312191,2
C--6727707(-) TTTTT-/GTTTTT
        
AGTAA
1 -- cds10--------
rs1153349981,2
C,F--6727738(+) TAGCCA/GGGTAT 1 -- ds50011Minor allele frequency- G:0.06WA 118
rs78372811,2
C,A--6727750(+) gtggcC/Gggcac 1 -- ds50012Minor allele frequency- G:0.30CSA WA 120
rs78338431,2
C,F,A,H--6727767(+) tccgaG/Actagt 1 -- ds500115Minor allele frequency- A:0.07NS EA NA 2098

HapMap Linkage Disequilibrium report for DEFB1 (6728097 - 6735544 bp)

Structural Variations
     Database of Genomic Variants (DGV) 10/14 variations for DEFB1 (see all 14):    About this table     
Variant IDTypeSubtypePubMed ID
esv2422383CNV Duplication17116639
nsv890061CNV Loss21882294
nsv890064CNV Gain21882294
nsv465436CNV Gain19166990
nsv528374CNV Gain19592680
esv2752262CNV Gain17911159
nsv831220CNV Gain17160897
nsv465437CNV Gain19166990
dgv7656n71CNV Gain21882294
dgv7657n71CNV Gain21882294


Human Gene Mutation Database (HGMD): DEFB1
SABiosciences Cancer Mutation PCR Assays
SeqTarget long-range PCR primers for resequencing DEFB1
DNA2.0 Custom Variant and Variant Library Synthesis for DEFB1

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section
OMIM gene information: 602056    OMIM disorders: --

20/71 diseases for DEFB1 (see all 71):    About MalaCards
gingival disease    corneal abscess    periodontal disease    vulvovaginitis
vulvovaginal candidiasis    cystic fibrosis    diffuse panbronchiolitis    lepromatous leprosy
localized scleroderma    tonsillitis    endophthalmitis    oral candidiasis
middle ear cholesteatoma    candidiasis    renal clear cell carcinoma    cholesteatoma
acne    otitis media    aggressive periodontitis    periodontitis

2 diseases from the University of Copenhagen DISEASES database for DEFB1:
Corneal abscess     Bipolar I disorder

DEFB1 for disorders           About GeneDecksing


Congresses - knowledge worth sharing:  
The International Symposium on Pneumococci and Pneumococcal Diseases (ISPPD) 9 - 13 March 2014
Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

10/35 Novoseek inferred disease relationships for DEFB1 gene (see all 35)    About this table

Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
bronchoalveolar lavage fluid 52.1 4 10213993 (1), 11296379 (1), 15463886 (1)
chronic tonsillitis 51 2 15222256 (1)
bacterial infections 49.5 5 20476598 (2), 12238953 (2), 12819054 (1)
chronic periodontitis 48.9 6 17760820 (2), 15206914 (1), 19712472 (1)
cystic fibrosis 45.5 6 9727055 (1), 9488417 (1), 9664579 (1), 11844962 (1) (see all 5)
renal clear cell carcinoma 44.9 3 12695553 (1), 16951166 (1)
inflammation 43.4 27 12519391 (2), 11023262 (2), 15382127 (2), 15472341 (1) (see all 17)
acne vulgaris 40.9 4 11710922 (2), 14568392 (1)
gastritis 39 14 12171956 (3), 18991164 (2), 15702860 (1), 20400909 (1) (see all 5)
nasal polyps 31.2 15 19141978 (3), 11485020 (1)

Genetic Association Database (GAD): DEFB1
Human Genome Epidemiology (HuGE) Navigator: DEFB1 (51 documents)

Export disorders for DEFB1 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 DEFB1 gene, integrated from 9 sources (see all 319):
(articles sorted by number of sources associating them with DEFB1)
    Utopia: connect your pdf to the dynamic
world of online information

  1. hBD-1: a novel beta-defensin from human plasma. (PubMed id 7628632)1, 2, 3, 9 Bensch K.W....Forssmann W.-G. (1995)
  2. Single-nucleotide polymorphisms (SNPs) in human beta-defensin 1: high-throughput SNP assays and association with Candida carriage in type I diabetics and nondiabetic controls. (PubMed id 12517831)1, 4, 9 Jurevic R.J....Dale B.A. (2003)
  3. Association between DEFB1 gene haplotype and herpes v iruses seroprevalence in children with acute lymphoblastic leukemia. (PubMed id 19954367)1, 4, 9 Tesse R....Armenio L. (2009)
  4. Potential role of human beta-defensin 1 in Helicobacter pylori-induced gastritis. (PubMed id 18991164)1, 4, 9 Kocsis A.K....Mandi Y. (2008)
  5. The structure of human beta-defensin-1: new insights into structural properties of beta-defensins. (PubMed id 11486002)1, 2, 9 Hoover D.M.... Lubkowski J. (2001)
  6. SNP 668C (-44) alters a NF-kappaB1 putative binding site in non-coding strand of human beta-defensin 1 (DEFB1) and is associated with lepromatous leprosy. (PubMed id 19460328)1, 4, 9 Prado-Montes de Oca E....Figuera L.E. (2009)
  7. Association of defensin beta-1 gene polymorphisms with asthma. (PubMed id 15696078)1, 4, 9 Levy H....Weiss S.T. (2005)
  8. Human airway epithelia express a beta-defensin. (PubMed id 9070620)1, 2, 9 McCray P.B. Jr. and Bentley L. (1997)
  9. Distribution of human beta-defensin polymorphisms in various control and cystic fibrosis populations. (PubMed id 15820309)1, 4, 9 Vankeerberghen A....Cuppens H. (2005)
  10. Genetic variants of human beta-defensin-1 and chronic obstructive pulmonary disease. (PubMed id 11829455)1, 4, 9 Matsushita I....Keicho N. (2002)

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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 1672 HGNC: 2766 AceView: DEFB1 Ensembl:ENSG00000164825 euGenes: HUgn1672
ECgene: DEFB1 H-InvDB: DEFB1

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
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NameDescription
PharmGKB entry for DEFB1 Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for DEFB1 Genetics and Cytogenetics in Oncology and Haematology

(Patent information from GeneIP,
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