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DEFB4A Gene

protein-coding   GIFtS: 55
GCID: GC08P007752

Defensin, Beta 4A

(Previous names: defensin, beta 2, defensin, beta 4)
(Previous symbols: DEFB102, DEFB2, DEFB4)
Microbiology & Infectious Diseases Congress
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Defensin, Beta 4A1 2     BD-22 3
DEFB21 2 3 5     SAP12 3
DEFB41 2 3 5     DEFB-22
Defensin, Beta 21 2 3     HBD-22
DEFB1021 2 3     Beta-Defensin 4A2
Defensin, Beta 41 2     Beta-Defensin 23
Skin-Antimicrobial Peptide 12 3     hBD-23

External Ids:    HGNC: 27671   Entrez Gene: 16732   Ensembl: ENSG000001717117   OMIM: 6022155   UniProtKB: O152633   

Export aliases for DEFB4A gene to outside databases


(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 DEFB4A 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 4, an antibiotic peptide which is
locally regulated by inflammation. (provided by RefSeq, Jul 2008)

GeneCards Summary for DEFB4A Gene:
DEFB4A (defensin, beta 4A) is a protein-coding gene. Diseases associated with DEFB4A include oral candidiasis, and tinea corporis. An important paralog of this gene is DEFB4B.

UniProtKB/Swiss-Prot: DFB4A_HUMAN, O15263
Function: Has antibacterial activity (Potential)

Gene Wiki entry for DEFB4A (Beta-defensin 2) 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:
NC_000008.11  NC_018919.2  NT_077531.5  
Regulatory elements:
   Search for regulatory transcription factor binding sites for DEFB4A
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidDEFB4A promoter sequence
   Search Chromatin IP Primers for DEFB4A

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat DEFB4A


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

DEFB4A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DEFB4A gene location

GeneLoc information about chromosome 8         GeneLoc Exon Structure

GeneLoc location for GC08P007752:  view genomic region     (about GC identifiers)

Start:
7,752,151 bp from pter      End:
7,754,237 bp from pter
Size:
2,087 bases      Orientation:
plus 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, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: DFB4A_HUMAN, O15263 (See protein sequence)
Recommended Name: Beta-defensin 4A precursor  
Size: 64 amino acids; 7038 Da
4 PDB 3D structures from and Proteopedia for DEFB4A:
1E4Q (3D)        1FD3 (3D)        1FD4 (3D)        1FQQ (3D)    
Secondary accessions: Q52LC0

Explore the universe of human proteins at neXtProt for DEFB4A: NX_O15263

Explore proteomics data for DEFB4A at MOPED


See DEFB4A Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_004933.1  
ENSEMBL proteins: 
 ENSP00000303532  
Reactome Protein details: O15263

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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HGNC Gene Families:
ENDOLIG: Endogenous ligands
DEFB: Defensins, beta

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

Graphical View of Domain Structure for InterPro Entry O15263

ProtoNet protein and cluster: O15263

1 Blocks protein domain: IPB001855 Beta defensin

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


DEFB4A 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,
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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

     UniProtKB/Swiss-Prot Summary: DFB4A_HUMAN, O15263
Function: Has antibacterial activity (Potential)
Induction: By inflammation

Phenotypes:
     1 GenomeRNAi human phenotype for DEFB4A:

 Increased gamma-H2AX phosphory 

Animal Models:
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hsa-mir-26b-5p (MIRT029865), hsa-mir-335-5p (MIRT018520)

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(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
DFB4A_HUMAN, O15263: Secreted
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
extracellular5
golgi apparatus4
nucleus2

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

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

DEFB4A for ontologies           About GeneDecksing


(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 DEFB4A About                                                                                                See pathways by source

SuperPathContained pathways About
1Defensins
Defensins0.80
Beta defensins0.80
2Immune response Bacterial infections in normal airways
Immune response Bacterial infections in normal airways0.78
Bacterial infections in CF airways0.78

Pathways by source                                                                                                                                                                 See SuperPaths
Show all pathways


2 GeneGo (Thomson Reuters) Pathways for DEFB4A
    Immune response Bacterial infections in normal airways
Bacterial infections in CF airways

2 Reactome Pathways for DEFB4A
    Defensins
Beta defensins



DEFB4A for pathways           About GeneDecksing

    Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for DEFB4A
Interactions:

    Search GeneGlobe Interaction Network for DEFB4A

STRING Interaction Network Preview (showing 5 interactants - click image to see 6)

Selected Interacting proteins for DEFB4A (O152633 ENSP000003035324) via UniProtKB, MINT, STRING, and/or I2D (see all 9)
InteractantInteraction Details
GeneCardExternal ID(s)
CCR6P516843, ENSP000003393934I2D: score=1 STRING: ENSP00000339393
TLR4O002063, ENSP000003630894I2D: score=1 STRING: ENSP00000363089
HMGN2P052043I2D: score=1 
MMP7P092373I2D: score=1 
RELAQ042063I2D: score=1 
About this table

Gene Ontology (GO): Selected biological process terms (see all 6):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0006935chemotaxis TAS10521347
GO:0006952defense response ----
GO:0006955immune response TAS10521347
GO:0007186G-protein coupled receptor signaling pathway TAS10521347
GO:0042742defense response to bacterium IEA--

DEFB4A for ontologies           About GeneDecksing



(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 DEFB4A (DFB4A)

Selected Novoseek inferred chemical compound relationships for DEFB4A gene (see all 31)    About this table
Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
hbd2 98.3 438 19617917 (14), 18567888 (8), 16926414 (7), 19233848 (7) (see all 83)
helenalin 65.6 4 12682256 (1), 16319062 (1), 15385474 (1), 16417227 (1)
hcec 60.1 2 16242370 (1), 17852183 (1)
peptidoglycan 52.5 11 15452057 (2), 15322197 (1), 15893496 (1), 17403538 (1) (see all 8)
lipoteichoic acid 44.9 5 12958190 (2), 11912282 (1)
sp 600125 43.7 3 15385474 (1), 15240151 (1), 16417227 (1)
rantes 41.3 8 16362266 (2), 18986692 (2), 19961380 (1), 17545490 (1) (see all 5)
anti-fungal 35.2 6 17392834 (1), 17340092 (1), 15161058 (1), 11936455 (1)
mg 132 25.9 3 11751976 (1), 16723032 (1), 15240151 (1)
sb 203580 25.7 3 17000004 (1), 20231411 (1), 15240151 (1)



DEFB4A for compounds           About GeneDecksing



(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,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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REFSEQ mRNAs for DEFB4A gene: 
NM_004942.2  

Unigene Cluster for DEFB4A:

Defensin, beta 4A
Hs.105924
Unigene Representative Sequence: GW493349
1 Ensembl transcript including schematic representation, and UCSC links where relevant:
ENST00000302247(uc003wsd.3)
Congresses - knowledge worth sharing:
European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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  QuantiFast Probe-based Assays in human, mouse, rat DEFB4A

Additional mRNA sequence: 

BC069285.1 BC093983.1 BC093985.1 Z71389.1 

1 DOTS entry:

DT.40121027 

11 AceView cDNA sequences:

NM_004942 BC069285 Z71389 BE714502 BM855542 BV188537 BE181080 BF088089 
BE181076 BE714489 BF088093 

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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DEFB4A expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: AGGAGGCCAA
DEFB4A Expression
About this image

DEFB4A Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

DEFB4A Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.105924

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

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In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DEFB4A

(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 DEFB4A gene from 1 species (see representative species )    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Defb25 defensin beta 2   --   8 (10.45 cM) 21839926 


ENSEMBL Gene Tree for DEFB4A (if available)
TreeFam Gene Tree for DEFB4A (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for DEFB4A gene
DEFB4B1 2  
2 SIMAP similar genes for DEFB4A using alignment to 1 protein entry:     DFB4A_HUMAN:
DEFB103A    DEFB103B

DEFB4A 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), 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 DEFB4A (see all 54)    About this table    
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 8 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs769237891,2
C--7750233(+) GGGTGC/GTGGCA 1 -- us2k10--------
rs112899671,2
C--7750320(+) TATAC-/AAAAAA 1 -- us2k1 tfbs3 trp31Minor allele frequency- A:0.00CSA 2
rs93292101,2
C,F,A--7750389(+) CTGTAT/CGCTTT 1 -- us2k13Minor allele frequency- C:0.33NA 6
rs1896213561,2
--7750512(+) TGACTA/GAGCTC 1 -- us2k10--------
rs1819216561,2
--7750518(+) AGCTCC/GAGTCC 1 -- us2k10--------
rs1854357571,2
--7750547(+) GCAGTA/TCTGAC 1 -- us2k10--------
rs3724213121,2
C--7750558(+) AGCATC/TTGACC 1 -- us2k10--------
rs1897929351,2
--7750567(+) CCCAGC/GCCTCT 1 -- us2k10--------
rs1807279791,2
--7750638(+) CTGTCA/GGAAGC 1 -- us2k10--------
rs1864537081,2
--7750650(+) ATTCCC/TGTGCC 1 -- us2k10--------

HapMap Linkage Disequilibrium report for DEFB4A (7752151 - 7754237 bp)

Structural Variations
     Database of Genomic Variants (DGV) Selected variations for DEFB4A (see all 49):    About this table    
Variant IDTypeSubtypePubMed ID
nsv471477CNV Duplication19718026
nsv890270CNV Loss21882294
nsv890300CNV Loss21882294
dgv7694n71CNV Loss21882294
esv2752266CNV Loss17911159
dgv7664n71CNV Loss21882294
nsv508496CNV Loss20534489
dgv1170n67CNV Loss20364138
dgv7670n71CNV Loss21882294
dgv7684n71CNV Loss21882294

Human Gene Mutation Database (HGMD): DEFB4A
Site Specific Mutation Identification with PCR Assays
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(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.)
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OMIM gene information: 602215    OMIM disorders: --

Selected diseases for DEFB4A (see all 90):    About MalaCards
oral candidiasis    tinea corporis    vaginitis    cholesteatoma
microsporidiosis    folliculitis    middle ear cholesteatoma    candidiasis
localized scleroderma    septic arthritis    vulvovaginitis    vulvovaginal candidiasis
genital herpes    periodontal disease    tonsillitis    diffuse panbronchiolitis
oral squamous cell carcinoma    cellulitis    acne    contact dermatitis

2 diseases from the University of Copenhagen DISEASES database for DEFB4A:
Psoriasis     Atopic dermatitis

DEFB4A for disorders           About GeneDecksing


Congresses - knowledge worth sharing:
The International Symposium on Pneumococci and Pneumococcal Diseases (ISPPD) 9 - 13 March 2014

Selected Novoseek inferred disease relationships for DEFB4A gene (see all 57)    About this table

Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
skin infection 57.9 5 19919305 (1), 15587410 (1)
psoriasis 57.5 50 19266104 (5), 12374875 (3), 15587410 (3), 12395153 (2) (see all 14)
dermatitis atopic 57.1 21 12374875 (2), 19266104 (2), 18476959 (2), 19212650 (2) (see all 9)
bacterial infections 56.6 20 20476598 (2), 12760504 (2), 10512755 (1), 10586069 (1) (see all 14)
oral candidiasis 50.5 3 11936455 (2), 10225911 (1)
inflammation 47.8 50 18389480 (2), 12519391 (2), 9831658 (2), 18556347 (2) (see all 30)
cholesteatoma middle ear 46.9 10 16001900 (4), 17419529 (2), 12701748 (1)
nasal polyps 46.5 14 19141978 (4), 14504864 (2), 11005092 (1)
candidiasis 44.7 4 20476598 (2), 11936455 (2)
skin diseases 43.3 5 18620136 (1), 17928537 (1), 12395153 (1)

Human Genome Epidemiology (HuGE) Navigator: DEFB4A (0 documents)

Export disorders for DEFB4A 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 DEFB4A gene, integrated from 10 sources (see all 535):
(articles sorted by number of sources associating them with DEFB4A)
    Utopia: connect your pdf to the dynamic
world of online information

  1. A peptide antibiotic from human skin. (PubMed id 9202117)1, 2, 3 Harder J.... Schroeder J.-M. (Nature 1997)
  2. Structure and mapping of the human beta-defensin HBD-2 gene and its expression at sites of inflammation. (PubMed id 9831658)1, 2, 9 Liu L.... Ganz T. (Gene 1998)
  3. The structure of human beta-defensin-2 shows evidence of higher order oligomerization. (PubMed id 10906336)1, 2, 9 Hoover D.M.... Lubkowski J. (J. Biol. Chem. 2000)
  4. Chemical synthesis of beta-defensins and LEAP-1/hepcidin. (PubMed id 12010514)1, 2, 9 Kluever E.... Adermann K. (J. Pept. Res. 2002)
  5. Structure determination of human and murine beta-defensins reveals structural conservation in the absence of significant sequence similarity. (PubMed id 11714914)1, 2, 9 Bauer F.... Sticht H. (Protein Sci. 2001)
  6. Mucoid Pseudomonas aeruginosa, TNF-alpha, and IL-1beta, but not IL-6, induce human beta-defensin-2 in respiratory epithelia. (PubMed id 10837369)1, 2, 9 Harder J.... Schroeder J.-M. (Am. J. Respir. Cell Mol. Biol. 2000)
  7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
  8. Transcriptional regulation of beta-defensin gene expression in tracheal epithelial cells. (PubMed id 10603376)1, 2 Diamond G.... Bevins C.L. (Infect. Immun. 2000)
  9. Dysregulation of human beta-defensin-2 protein in inflammatory bowel disease. (PubMed id 19617917)1, 9 Aldhous M.C....Satsangi J. (PLoS ONE 2009)
  10. Association of higher DEFB4 genomic copy number with Crohn's disease. (PubMed id 19809410)1, 9 Bentley R.W....Roberts R.L. (Am. J. Gastroenterol. 2010)

(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: 1673 HGNC: 2767 AceView: DEFB4 Ensembl:ENSG00000171711 euGenes: HUgn1673
ECgene: DEFB4A H-InvDB: DEFB4A

(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 DEFB4A Pharmacogenomics, SNPs, Pathways

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
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Patent Information for DEFB4A gene:
Search GeneIP for patents involving DEFB4A

GeneCards and IP:
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