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DEFB1 Gene

protein-coding   GIFtS: 58
GCID: GC08M006715

Defensin, Beta 1

  See DEFB1-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)
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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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 localized scleroderma.

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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000008.10  NC_018919.2  NT_023736.18  
Regulatory elements:
   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 Chromatin IP Primers for DEFB1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 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: DEFB1_HUMAN, P60022 (See protein sequence)
Recommended Name: Beta-defensin 1 precursor  
Size: 68 amino acids; 7420 Da
Mass spectrometry: Mass=3928; Mass_error=0.5; Method=Electrospray; Range=33-68; Source=PubMed:7628632;
Selected 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


See DEFB1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_005209.1  
ENSEMBL proteins: 
 ENSP00000297439  
Reactome Protein details: P60022

DEFB1 Human Recombinant Protein Products:

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ProSpec Recombinant Protein for DEFB1
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Search eBioscience for Proteins for DEFB1 

 
antibodies-online proteins for DEFB1 (49 products) 

 
antibodies-online peptides for DEFB1

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antibodies-online antibodies for DEFB1 (106 products) 

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antibodies-online kits for DEFB1 (31 products) 


(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:
 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


Find genes that share domains with DEFB1           About GenesLikeMe


(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: 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 

Find genes that share phenotypes with DEFB1           About GenesLikeMe

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

   genOway: Develop your customized and physiologically relevant rodent model for DEFB1

miRNA
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Predesigned siRNA for gene silencing in human, mouse, rat DEFB1

Gene Editing
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GenScript: all cDNA clones in your preferred vector: DEFB1 (NM_005218)
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DNA2.0 Custom Codon Optimized Gene Synthesis Service for DEFB1
Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DEFB1

Cell Line
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In Situ Assay
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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DEFB1


(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
DEFB1_HUMAN, P60022: Secreted
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
extracellular5
golgi apparatus4
nucleus1

Gene Ontology (GO): 2 cellular component terms:    About this table

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

Find genes that share ontologies with DEFB1           About GenesLikeMe


(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 DEFB1 About    
See pathways by source

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


Find genes that share SuperPaths with DEFB1           About GenesLikeMe

Pathways by source                                                                                                                                                                 See SuperPaths
Show all pathways



2 Reactome Pathways for DEFB1
    Defensins
Beta defensins


    Pathway & Disease-focused RT2 Profiler PCR Arrays including DEFB1: 
          Necrosis in human mouse rat
          Molecular Toxicology PathwayFinder 384HT in human mouse rat
          Cell Death PathwayFinder in human mouse rat

Interactions:

    GeneGlobe Interaction Network for DEFB1

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

Selected 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
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Gene Ontology (GO): Selected biological process terms (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

Find genes that share ontologies with DEFB1           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 Small Molecules at EMD Millipore
   Browse drugs & compounds from Enzo Life Sciences
  Browse compounds at ApexBio 

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)



Find genes that share compounds with DEFB1           About GenesLikeMe



(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 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)
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Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DEFB1
Primer
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OriGene qPCR primer pairs and template standards for DEFB1
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Pre-validated RT2 qPCR Primer Assay in human, mouse / rat DEFB1
  QuantiTect SYBR Green Assays in human, mouse, rat DEFB1
  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 

Selected AceView cDNA sequences (see all 42):

NM_005218 BC033298 BE165509 AI733397 AI791809 AA946653 BC047677 U73945 
AI344758 AI688522 AI791691 AI733355 AI303004 X92744 BM686890 BX280047 
AI347238 AI769855 AW467058 AI301290 BM923781 AI688359 BG661201 AI307245 

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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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


DEFB1 expression in embryonic tissues and stem cells    About this table
Data from LifeMap, the Embryonic Development and Stem Cells Database
 selected tissues (see all 5) fully expand
 
 Lung (Respiratory System)
         Basal Cells Trachea
 
 Liver (Hepatobiliary System)
         Hepatocyte-like cells
 
 Placenta (Extraembryonic Tissues)
         Syncytiotrophoblast-like cells
 
 Epidermis (Integumentary System)
 
 Kidney (Urinary System)
DEFB1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

DEFB1 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.32949

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

    Pathway & Disease-focused RT2 Profiler 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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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)
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This gene was present in the common ancestor of human and mouse.

Orthologs for DEFB1 gene from Selected 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)
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Paralogs for DEFB1 gene
1 SIMAP similar gene for DEFB1 using alignment to 1 protein entry:     DEFB1_HUMAN:
HBD1

Find genes that share paralogs with DEFB1           About GenesLikeMe



(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 DEFB1 (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) Selected 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
Site Specific Mutation Identification with 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, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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OMIM gene information: 602056    OMIM disorders: --

Selected diseases for DEFB1 (see all 26):    
About MalaCards
gingival disease    localized scleroderma    corneal abscess    lepromatous leprosy
vulvovaginal candidiasis    peptic ulcer disease    osteonecrosis of the jaw    periodontal disease
tonsillitis    aggressive periodontitis    endophthalmitis    osteonecrosis
pulmonary disease, chronic obstructive    diffuse panbronchiolitis    middle ear cholesteatoma    renal clear cell carcinoma
oral candidiasis    otitis media    duodenal ulcer    acne

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

Find genes that share disorders with DEFB1           About GenesLikeMe

Selected 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)
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PubMed articles for DEFB1 gene, integrated from 10 sources (see all 322):
(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. (FEBS Lett. 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. (J. Clin. Microbiol. 2003)
  3. Potential role of human beta-defensin 1 in Helicobacter pylori-induced gastritis. (PubMed id 18991164)1, 4, 9 Kocsis A.K....MA!ndi Y. (Scand. J. Gastroenterol. 2009)
  4. Association between DEFB1 gene haplotype and herpes viruses seroprevalence in children with acute lymphoblastic leukemia. (PubMed id 19954367)1, 4, 9 Tesse R....Armenio L. (Pediatr Hematol Oncol 2009)
  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. (J. Biol. Chem. 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. (Infect. Genet. Evol. 2009)
  7. Association of defensin beta-1 gene polymorphisms with asthma. (PubMed id 15696078)1, 4, 9 Levy H....Weiss S.T. (J. Allergy Clin. Immunol. 2005)
  8. Human airway epithelia express a beta-defensin. (PubMed id 9070620)1, 2, 9 McCray P.B. Jr. and Bentley L. (Am. J. Respir. Cell Mol. Biol. 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. (Genomics 2005)
  10. Genetic variants of human beta-defensin-1 and chronic obstructive pulmonary disease. (PubMed id 11829455)1, 4, 9 Matsushita I....Keicho N. (Biochem. Biophys. Res. Commun. 2002)

(in PubMed, OMIM, and NCBI Bookshelf)
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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, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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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

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Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
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Patent Information for DEFB1 gene:
Search GeneIP for patents involving DEFB1

GeneCards and IP:
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