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

DEFB103B Gene

protein-coding   GIFtS: 47
GCID: GC08M007277

defensin, beta 103B

 Explore 38 diseases affiliated with
DEFB103B via our new
 Human Malady Compendium 
Biological research products
for DEFB103B
    

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

Aliases
Defensin, Beta 103B1 2     DEFB1032 3
DEFB32 3 5     HBP32 5
HBD32 3 5     Beta-Defensin 1032
Beta-Defensin 32 3     BD33
Defensin, Beta 1032 3     DEFB-33
Defensin-Like Protein2 3     HBD-31
BD-32 3     DEFB103A5

External Ids:    HGNC: 317021   Entrez Gene: 558942   Ensembl: ENSG000001772437   OMIM: 6066115   UniProtKB: P815343   

Export aliases for DEFB103B gene to outside databases

Previous GC identifers: GC08U900480 GC08P007779 GC08M006934


(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 DEFB103B:
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 103B, which has broad spectrum antimicrobial
activity and may play an important role in innate epithelial defense. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: D103A_HUMAN, P81534
Function: Exhibits antimicrobial activity against Gram-positive bacteria S.aureus and S.pyogenes, Gram-negative
bacteria P.aeruginosa and E.coli and the yeast C.albicans. Kills multiresistant S.aureus and vancomycin-resistant
E.faecium. No significant hemolytic activity was observed

Gene Wiki entry for DEFB103B (DEFB103A)


(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
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the DEFB103B gene promoter:
         FOXI1   C/EBPbeta   IRF-2   STAT1   p300   FOXD3   AP-4   IRF-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidDEFB103B promoter sequence
   Search SABiosciences Chromatin IP Primers for DEFB103B

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DEFB103B


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

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

DEFB103B Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DEFB103B gene location

GeneLoc information about chromosome 8         GeneLoc Exon Structure

GeneLoc location for GC08M007277:  view genomic region     (about GC identifiers)

Start:
7,286,410 bp from pter      End:
7,287,870 bp from pter
Size:
1,461 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: D103A_HUMAN, P81534 (See protein sequence)
Recommended Name: Beta-defensin 103 precursor  
Size: 67 amino acids; 7697 Da
Subcellular location: Secreted
Mass spectrometry: Mass=5154.59; Method=Electrospray; Range=23-67; Source=PubMed:11085990;
1 PDB 3D structure from and Proteopedia for DEFB103B:
1KJ6 (3D)    
Secondary accessions: Q8NFG6 Q9NPF6

Explore the universe of human proteins at neXtProt for DEFB103B: NX_P81534

DEFB103B Protein expression data from MOPED and PaxDb:    About this image 

Estimated protein expression log10 (pmol).

REFSEQ proteins: NP_061131.1  
ENSEMBL proteins: 
 ENSP00000324633  
Reactome Protein details: P81534
Human Recombinant Protein Products: 
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Uscn Proteins for DEFB103B

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 ----


DEFB103B 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

DEFB103B for domains           About GeneDecksing

1 InterPro domain/family:
 IPR001855 Defensin_beta-typ

Graphical View of Domain Structure for InterPro Entry P81534

ProtoNet protein and cluster: P81534

1 Blocks protein family: IPB001855 Beta defensin

UniProtKB/Swiss-Prot: D103A_HUMAN, P81534
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: D103A_HUMAN, P81534
Function: Exhibits antimicrobial activity against Gram-positive bacteria S.aureus and S.pyogenes, Gram-negative
bacteria P.aeruginosa and E.coli and the yeast C.albicans. Kills multiresistant S.aureus and vancomycin-resistant
E.faecium. No significant hemolytic activity was observed
Induction: By bacterial infection and by IFNG/IFN-gamma

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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 DEFB103B (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



DEFB103B for pathways           About GeneDecksing

Interactions:

    Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for DEFB103B

STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

2 Interacting proteins for DEFB103B (P815343 ENSP000003246334) via UniProtKB, MINT, STRING, and/or I2D
InteractantInteraction Details
GeneCardExternal ID(s)
CCR6P516843, ENSP000003393934I2D: score=1 STRING: ENSP00000339393
DEFB103AENSP000003209514STRING: ENSP00000320951
About this table

Gene Ontology (GO): 3 biological process terms (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0006965positive regulation of biosynthetic process of antibacterial peptides active against Gram-positive bacteria ----
GO:0042742defense response to bacterium ----
GO:0045087innate immune response ----


DEFB103B 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

DEFB103B for compounds           About GeneDecksing

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

Browse Tocris compounds for DEFB103B
8 Novoseek chemical compound relationships for DEFB103B gene    About this table
Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
hbd2 96.8 69 18806299 (5), 18492183 (4), 12819054 (4), 19554343 (4) (see all 28)
alpha-aminobutyric acid 54.9 1 12840147 (1)
cysteine 22.7 14 18180295 (1), 16008365 (1), 19480463 (1), 19108000 (1)
anti-fungal 15.7 3 18809937 (1), 20337925 (1), 16377704 (1)
steroid 0 1 12892899 (1)
calcium 0 5 14714554 (3), 18492183 (1), 17230440 (1)
progesterone 0 1 12892899 (1)
dexamethasone 0 2 11162549 (2)

Search CenterWatch for drugs/clinical trials and news about DEFB103B / D103A 

(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 DEFB103B gene: 
NM_018661.3  

1 Ensembl transcript including schematic representation, and UCSC links where relevant:
ENST00000318124(uc003wrf.3)

miRNA
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Inhib. RNA
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8 AceView cDNA sequences:

AF301470 AF217245 AF295370 AB037972 NM_018661 AF516673 AJ237673 BQ354967 

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

DEFB103B expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --

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

About this image
See DEFB103B Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for DEFB103B

UniProtKB/Swiss-Prot: D103A_HUMAN, P81534
Tissue specificity: Highly expressed in skin and tonsils, and to a lesser extent in trachea, uterus, kidney, thymus,
adenoid, pharynx and tongue. Low expression in salivary gland, bone marrow, colon, stomach, polyp and larynx. No
expression in small intestine

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In Situ
Assay Products:
 

 
Search Advanced Cell Diagnostics for RNAscope RNA in situ hybridization assays for DEFB103B

(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 DEFB103B (if available)
TreeFam Gene Tree for DEFB103B (if available) 

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
Paralogs for DEFB103B gene
DEFB103A1 2  
5 SIMAP similar genes for DEFB103B using alignment to 1 protein entry:     D103A_HUMAN:
DEFB103A    DEFB4A    DEFB4B    DEFB130    DEFB130L

DEFB103B for paralogs           About GeneDecksing



(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

5 NCBI SNPs in DEFB103B are shown     About this table
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 8 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1999472081,2
--7287674(+) CCCACA/GCTGAG 1 -- ut510--------
rs2012874691,2
----7286043(+) TATTTC/TTCTGA 1 -- ds50010--------
rs2020620201,2
----7287307(+) CCAGAC/TAATTT 1 -- int10--------
rs2001694361,2
----7289591(+) GGTGAA/GGACAG 1 -- us2k10--------
rs1996013171,2
----7288097(+) ATCCAG/TCCCTG 1 -- us2k10--------

HapMap Linkage Disequilibrium report for DEFB103B (7286410 - 7287870 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 35 variations for DEFB103B
     15/27 CNVs (see all 27): 70259 0734 8593 2117 34519 34453 70271 31424 7702 9081 52607 52617 0733 0296 32996
     8 Inversions: 37309 37307 37308 37304 37305 37306 37310 37303

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(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.)
About This Section

DEFB103B for disorders           About GeneDecksing

OMIM gene information: 606611    OMIM disorders: --

20/38 diseases for DEFB103B (see all 38):    About MalaCards
middle ear cholesteatoma    localized scleroderma    mycosis fungoides    lichen planus
candidiasis    oral squamous cell carcinoma    cystic fibrosis    oral candidiasis
squamous cell carcinoma    cholesteatoma    esophageal candidiasis    atopic dermatitis
periodontal disease    skin disease    ulcerative colitis    scleroderma
chorioamnionitis    dermatitis    periodontitis    leukoplakia

10/14 Novoseek disease relationships for DEFB103B gene (see all 14)    About this table

Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
bacterial infections 44 4 19372483 (1), 12819054 (1), 15729370 (1)
dermatitis atopic 38.8 1 18538383 (1)
skin diseases 33.8 1 18620136 (1)
necrosis 29.3 7 11702237 (1), 15270856 (1), 12902844 (1), 11085990 (1) (see all 6)
inflammation 21.8 5 15270856 (1), 19372483 (1), 20104491 (1), 14688115 (1) (see all 5)
colitis 18.3 2 15270856 (1), 18810765 (1)
infectious disease 13.8 2 19664560 (1), 15729370 (1)
respiratory tract infections 2.11 3 16452577 (1), 17184289 (1), 19650994 (1)
colitis ulcerative 2.08 3 15270856 (2), 17387677 (1)
inflammatory bowel diseases 0 1 15270856 (1)

Human Genome Epidemiology (HuGE) Navigator: DEFB103B (0 documents)

Export disorders for DEFB103B 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 DEFB103B gene, integrated from 9 sources (see all 202):
(articles sorted by number of sources associating them with DEFB103B)
    Utopia: connect your pdf to the dynamic
world of online information

  1. Isolation and characterization of human beta -defensin-3, a novel human inducible peptide antibiotic. (PubMed id 11085990)1, 2, 9 Harder J....Schroder J.M. (2001)
  2. The solution structures of the human beta-defensins lead to a better understanding of the potent bactericidal activity of HBD3 against Staphylococcus aureus. (PubMed id 11741980)1, 2, 9 Schibli D.J.... Vogel H.J. (2002)
  3. Identification of a novel, multifunctional beta-defensin (human beta- defensin 3) with specific antimicrobial activity. Its interaction with plasma membranes of Xenopus oocytes and the induction of macrophage chemoattraction. (PubMed id 11702237)1, 2, 9 Conejo-Garcia J.-R.... Bals R. (2001)
  4. Discovery of new human beta-defensins using a genomics-based approach. (PubMed id 11223260)1, 2, 9 Jia H.P....McCray P.B. Jr. (2001)
  5. Osteoblasts participate in the innate immunity of the bone by producing human beta defensin-3. (PubMed id 18925411)1, 9 Varoga D....Pufe T. (2009)
  6. Human beta-defensin 3 mediates tissue remodeling processes in articular cartilage by increasing levels of metalloproteinases and reducing levels of their endogenous inhibitors. (PubMed id 15934078)1, 9 Varoga D....Paulsen F. (2005)
  7. Signal transduction and nuclear responses in Staphylococcus aureus-induced expression of human beta-defensin 3 in skin keratinocytes. (PubMed id 16954397)1, 9 Menzies B.E. and Kenoyer A. (2006)
  8. Human beta-defensin 3 has immunosuppressive activity in vitro and in vivo. (PubMed id 20104491)1, 9 Semple F....Dorin J.R. (2010)
  9. Human beta-defensin 3 inhibits cell wall biosynthesis in Staphylococci. (PubMed id 20385753)1, 9 Sass V....Sahl H.G. (2010)
  10. Expression profile of human beta-defensin 3 in oral s quamous cell carcinoma. (PubMed id 19219676)1, 9 Kesting M.R....Steinstraesser L. (2009)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section
 ANDOR
Aliases
Disorders
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: 55894 HGNC: 31702 AceView: DEFB103A Ensembl:ENSG00000177243 euGenes: HUgn55894
ECgene: DEFB103B H-InvDB: DEFB103B

(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 DEFB103B 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 DEFB103B gene:
Search GeneIP for patents involving DEFB103B

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),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section

 Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
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GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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VWF
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von Willebrand factor
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The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


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