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

DEFB103A Gene

protein-coding   GIFtS: 47
GCID: GC08P007739

Defensin, Beta 103A

(Previous names: defensin, beta 3)
(Previous symbols: DEFB3, DEFB103)
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 103A1 2     BD-32 3
DEFB31 2 3 5     DEFB-32 3
DEFB1031 2 3     hBD-32 3
HBD32 3 5     HBP32 5
Defensin, Beta 31 2     HBP-32
Beta-Defensin 32 3     Beta-Defensin 1032
Defensin, Beta 1032 3     BD33
Defensin-Like Protein2 3     

External Ids:    HGNC: 159671   Entrez Gene: 4143252   Ensembl: ENSG000001767977   OMIM: 6066115   UniProtKB: P815343   

Export aliases for DEFB103A gene to outside databases

Previous GC identifers: GC08M007274 GC08P007778


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

GeneCards Summary for DEFB103A Gene: 
DEFB103A (defensin, beta 103A) is a protein-coding gene. Diseases associated with DEFB103A include oral squamous cell carcinoma, and tonsillitis. An important paralog of this gene is DEFB103B.

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




(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_077531.4  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the DEFB103A gene promoter:
         C/EBPbeta   STAT1   AP-1   p300   ATF-2   FOXD3   AP-4   IRF-2   c-Jun   TGIF   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidDEFB103A promoter sequence
   Search SABiosciences Chromatin IP Primers for DEFB103A

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DEFB103A


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

DEFB103A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DEFB103A gene location

GeneLoc information about chromosome 8         GeneLoc Exon Structure

GeneLoc location for GC08P007739:  view genomic region     (about GC identifiers)

Start:
7,738,726 bp from pter      End:
7,740,186 bp from pter
Size:
1,461 bases      Orientation:
plus 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: 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 DEFB103A:
1KJ6 (3D)    
Secondary accessions: Q8NFG6 Q9NPF6

Explore the universe of human proteins at neXtProt for DEFB103A: NX_P81534

Explore proteomics data for DEFB103A at MOPED 

DEFB103A Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

DEFB103A Protein Expression

REFSEQ proteins: NP_001075020.1  
ENSEMBL proteins: 
 ENSP00000320951  
Reactome Protein details: P81534
Human Recombinant Protein Products for DEFB103A: 
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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 TAS--
GO:0005796Golgi lumen TAS--

DEFB103A 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

1 InterPro protein domain:
 IPR001855 Defensin_beta-typ

Graphical View of Domain Structure for InterPro Entry P81534

ProtoNet protein and cluster: P81534

1 Blocks protein domain: IPB001855 Beta defensin

UniProtKB/Swiss-Prot: D103A_HUMAN, P81534
Similarity: Belongs to the beta-defensin family


DEFB103A 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: 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

Phenotypes:
     1 MGI mutant phenotype (inferred from 1 allele(MGI details for Defb14):

 immune system 

DEFB103A for phenotypes           About GeneDecksing

Animal Models:
   inGenious Targeting Laboratory - Custom generated mouse model solutions for DEFB103A 
   inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for DEFB103A

   genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for DEFB103A 
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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 DEFB103A
    Defensins
Beta defensins
Immune System
Innate Immune System



DEFB103A for pathways           About GeneDecksing

Interactions:

    SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for DEFB103A

STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

2 Interacting proteins for DEFB103A (P815343 ENSP000003209514) via UniProtKB, MINT, STRING, and/or I2D
InteractantInteraction Details
GeneCardExternal ID(s)
CCR6P516843I2D: score=1 
DEFB103BENSP000003246334STRING: ENSP00000324633
About this table

Gene Ontology (GO): 4 biological process terms (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0006952defense response ----
GO:0006965positive regulation of biosynthetic process of antibacterial peptides active against Gram-positive bacteria TAS11085990
GO:0042742defense response to bacterium IEA--
GO:0045087innate immune response TAS--

DEFB103A 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 DEFB103A (D103A)

Search CenterWatch for drugs/clinical trials and news about DEFB103A / D103A

(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 DEFB103A gene: 
NM_001081551.2  

Unigene Clusters for DEFB103A:

Defensin, beta 103A
Hs.283082 , Hs.637221
Unigene Representative Sequences: AF301470, NM_001081551
1 Ensembl transcript including schematic representation, and UCSC links where relevant:
ENST00000314357(uc003wsc.3)
Congresses - knowledge worth sharing:  
European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

miRNA
Products:
     
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Search QIAGEN for miScript miRNA Assays for microRNAs that regulate DEFB103A
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Inhib. RNA
Products:
     
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Additional mRNA sequence: 

AB037972.1 AF295370.1 AF516673.1 AJ237673.1 AY785153.1 

2 DOTS entries:

DT.91698816  DT.120639826 

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

DEFB103A expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: ACGAGAGTGT
DEFB103A Expression
About this image


See DEFB103A Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for DEFB103A

SOURCE GeneReport for Unigene clusters: Hs.283082 Hs.637221

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:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DEFB103A

(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 DEFB103A gene from 1/5 species (see all 5)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Defb141 , 5 defensin beta 141, 5 72.14(n)1
68.66(a)1
  8 (10.35 cM)5
2443321  NM_183026.21  NP_898847.11 
 191943575 


ENSEMBL Gene Tree for DEFB103A (if available)
TreeFam Gene Tree for DEFB103A (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
Paralogs for DEFB103A gene
DEFB103B1 2  
5 SIMAP similar genes for DEFB103A using alignment to 2 protein entries:     D103A_HUMAN (see all proteins):
DEFB103B    DEFB4A    DEFB4B    DEFB130    DEFB130L

DEFB103A 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 SNPs in DEFB103A are shown    About this table     
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 8 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs2021272941,2
--7738926(+) GCGTGA/GGGTGA 1 -- ut510--------
rs2013264181,2
--7738974(+) CTTTGC/GTCTTC 2 L V mis10--------
rs2019224111,2
----7737697(+) AAATAA/CAACCC 1 -- us2k10--------
rs2007667771,2
----7737005(+) CTGTCC/TTCACC 1 -- us2k10--------
rs39589811,2
----7738407(+) GCCAGC/GTGGTC 1 -- us2k10--------
rs2000859031,2
----7737708(+) ATCCAC/TTGGAT 1 -- us2k10--------
rs1413830591,2
----7738169(+) ACAGAA/TAATTT 1 -- us2k10--------
rs2010154181,2
----7738416(+) TCAGCC/TAACCT 1 -- us2k10--------
rs2016951191,2
----7740183(+) CAAAAA/CAAATT 1 -- ds50010--------
rs2018611621,2
----7739219(+) GATCAC/GGAGGT 1 -- int10--------

HapMap Linkage Disequilibrium report for DEFB103A (7738726 - 7740186 bp)

Structural Variations
     Database of Genomic Variants (DGV) 10/74 variations for DEFB103A (see all 74):    About this table     
Variant IDTypeSubtypePubMed ID
esv2736558CNV Deletion23290073
dgv26n31CNV Duplication19718026
dgv25n31CNV Duplication19718026
nsv471459CNV Duplication19718026
nsv890270CNV Loss21882294
nsv890300CNV Loss21882294
dgv7694n71CNV Loss21882294
dgv7664n71CNV Loss21882294
nsv508496CNV Loss20534489
dgv1170n67CNV Loss20364138

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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
OMIM gene information: 606611    OMIM disorders: --

7 diseases for DEFB103A:    About MalaCards
oral squamous cell carcinoma    tonsillitis    celiac disease    gingivitis
adenoiditis    cystic fibrosis    squamous cell carcinoma


DEFB103A for disorders           About GeneDecksing

Genetic Association Database (GAD): DEFB103A

Export disorders for DEFB103A 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 DEFB103A gene, integrated from 9 sources (see all 22):
(articles sorted by number of sources associating them with DEFB103A)
    Utopia: connect your pdf to the dynamic
world of online information

  1. Discovery of new human beta-defensins using a genomics-based approach. (PubMed id 11223260)1, 2, 3 Jia H.P....McCray P.B. Jr. (2001)
  2. Isolation and characterization of human beta -defensin-3, a novel human inducible peptide antibiotic. (PubMed id 11085990)1, 2, 3 Harder J....Schroder J.M. (2001)
  3. Analysis of beta-defensin and Toll-like receptor gene copy number variation in celiac disease. (PubMed id 20483368)1, 4 Fernandez-Jimenez N....Bilbao J.R. (2010)
  4. 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 Schibli D.J.... Vogel H.J. (2002)
  5. Human b-defensin 3 peptide is increased and redistribu ted in Crohn's ileitis. (PubMed id 23511030)1 Meisch J.P....Levine A.D. (2013)
  6. b-Defensin 2 and 3 promote the uptake of self or CpG D NA, enhance IFN-a production by human plasmacytoid dendritic cells, and promote inflammation. (PubMed id 23776172)1 Tewary P....Oppenheim J.J. (2013)
  7. Human b-defensin-3 structure motifs that are important in CXCR4 antagonism. (PubMed id 23659571)1 Feng Z....Weinberg A. (2013)
  8. Human beta-defensin 3 induces maturation of human lang erhans cell-like dendritic cells: an antimicrobial peptide that functions as an endogenous adjuvant. (PubMed id 22951718)1 Ferris L.K....Falo L.D. (2013)
  9. Genetic variability in beta-defensins is not associate d with susceptibility to Staphylococcus aureus bacteremia. (PubMed id 22384213)1 Fode P....Andersen P.S. (2012)
  10. Human b-defensins differently affect proliferation, di fferentiation, and mineralization of osteoblast-like MG63 cells. (PubMed id 21520074)1 Kraus D....Winter J. (2012)

(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: 414325 HGNC: 15967 Ensembl:ENSG00000176797 euGenes: HUgn414325 ECgene: DEFB103A
H-InvDB: DEFB103A

(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 DEFB103A 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 DEFB103A gene:
Search GeneIP for patents involving DEFB103A

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

 EMD Millipore Purified and/or Recombinant DEFB103A Protein
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GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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(GIFtS: 73)
transforming growth factor, beta 1
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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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