DEFB4A Gene
protein-coding GIFtS: 54
GCID: GC08P007752
|
|
defensin, beta 4A(Previous names: defensin, beta 2, defensin, beta 4 )
(Previous symbols: DEFB102, DEFB2, DEFB4)
| |
Aliases
for DEFB4A gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Defensin, Beta 4A1 2 | | HBD-21 2 | | DEFB21 2 3 5 | | Defensin, Beta 41 2 | | DEFB41 2 3 5 | | Skin-Antimicrobial Peptide 12 3 | | Defensin, Beta 21 2 3 | | BD-22 3 | | DEFB1021 2 3 | | Beta-Defensin 4A2 | | SAP11 2 3 | | Beta-Defensin 23 | | DEFB-21 2 | | HBD-21 2 |
Export aliases for DEFB4A gene to outside databases |
Summaries
for DEFB4A gene(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 DEFB4A:
Defensins form a family of microbicidal and cytotoxic peptides made by neutrophils. Members of the defensin family arehighly similar in protein sequence. This gene encodes defensin, beta 4, an antibiotic peptide which is locallyregulated by inflammation. (provided by RefSeq, Jul 2008)
UniProtKB/Swiss-Prot: DFB4A_HUMAN, O15263Function: Has antibacterial activity (Potential)
Gene Wiki entry for DEFB4A (Beta-defensin 2)
|
Genomic Views
for DEFB4A 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 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000008.10 NC_018919.1 NT_077531.4
Regulatory elements:
 Search SABiosciences Regulatory transcription factor binding sites for DEFB4A
Other transcription factors
Search SABiosciences Chromatin IP Primers for DEFB4A
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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: 8p23.1DEFB4A Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
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:
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plus strand |
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Proteins
for DEFB4A gene
(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: DFB4A_HUMAN, O15263 (See
protein sequence)Recommended Name: Beta-defensin 4A precursor Size: 64 amino acids; 7038 Da
Subcellular location: Secreted
4 PDB 3D structures from  and Proteopedia  for DEFB4A:1E4Q (3D)
1FD3 (3D)
1FD4 (3D)
1FQQ (3D)
Secondary accessions: Q52LC0Explore the universe of human proteins at neXtProt for DEFB4A: NX_O15263
DEFB4A Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_004933.1
ENSEMBL proteins: ENSP00000303532 Reactome Protein details: O15263
Human Recombinant Protein Products:
Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0005576 | extracellular region |
TAS | -- | | GO:0005796 | Golgi lumen |
TAS | -- |
DEFB4A for ontologies About GeneDecksing
DEFB4A Antibody Products:
Assay Products for DEFB4A: |
Protein
Domains /
Families
for DEFB4A gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
DEFB4A for domains About GeneDecksing
2 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry O15263ProtoNet protein and cluster: O15263 1 Blocks protein family: IPB001855 Beta defensin
UniProtKB/Swiss-Prot: DFB4A_HUMAN, O15263Similarity: Belongs to the beta-defensin family. LAP/TAP subfamily |
Function
for DEFB4A gene
(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: DFB4A_HUMAN, O15263Function: Has antibacterial activity (Potential)Induction: By inflammation
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for DEFB4A (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for DEFB4A
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Synthesis Service for DEFB4A | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DEFB4A |
1 GenomeRNAi human phenotype for DEFB4A:
|
Pathways & Interactions
for DEFB4A gene
(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-pathway | contained gene-specific pathways |
|---|
| 1 | Beta defensins | | | 2 | Immune response_Bacterial infections in normal airways | | | 3 | Immune System | |
Pathway sources
See GeneCards unified pathways
Show all pathways
2  GeneGo (Thomson Reuters) Pathways for DEFB4A
5/6 
Reactome Pathways for DEFB4A (see all 6)
DEFB4A for pathways About GeneDecksing
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for DEFB4A
STRING Interaction
Network Preview (showing 5 interactants - click image to see 6)
5/9 Interacting proteins for DEFB4A (O152633 ENSP000003035324) via UniProtKB, MINT, STRING, and/or I2D (see all 9)About this table
Gene Ontology (GO): 5 biological process terms (GO ID links to tree view): About this table
DEFB4A for ontologies About GeneDecksing
|
Drugs & Compounds
for DEFB4A gene(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
|
DEFB4A for compounds About GeneDecksing
 Browse Tocris compounds for DEFB4A
10/31 Novoseek 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) |
Search CenterWatch for drugs/clinical trials and news about DEFB4A / DFB4A
|
Transcripts
for DEFB4A gene(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 DEFB4A gene: NM_004942.2 Unigene Cluster for DEFB4A: Defensin, beta 4A Hs.105924 Unigene Representative Sequence: GW4933491 Ensembl transcript including schematic representation, and UCSC links where relevant: ENST00000302247(uc003wsd.3)
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for DEFB4A (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for DEFB4A
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: DEFB4A (NM_004942) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for DEFB4A | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DEFB4A |
Additional cDNA sequence: BC069285.1 BC093983.1 BC093985.1 Z71389.1 1 DOTS entry: DT.40121027 11 AceView cDNA sequences: Z71389 BC069285 NM_004942 BM855542 BE714502 BV188537 BE181080 BF088089 BE714489 BE181076 BF088093
GeneLoc Exon Structure
|
Expression
for DEFB4A gene
(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
| DEFB4A expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: AGGAGGCCAA
About this image
See DEFB4A Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for DEFB4A
SOURCE GeneReport for Unigene cluster: Hs.105924
UniProtKB/Swiss-Prot: DFB4A_HUMAN, O15263Tissue specificity: Expressed in the skin and respiratory tract
SABiosciences Custom PCR Arrays for DEFB4A
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for DEFB4A
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse / rat DEFB4A | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat DEFB4A | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat DEFB4A |
Orthologs
for DEFB4A gene
(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 DEFB4A (if available)
TreeFam Gene Tree for DEFB4A (if available) |
Paralogs
for DEFB4A gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| 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
|
Genomic Variants
for DEFB4A gene(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
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 8 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for DEFB4A (7752151 - 7754237 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for DEFB4A: --
Human Gene Mutation Database (HGMD): DEFB4A
| SABiosciences Cancer Mutation PCR Assays |
|
Disorders
/ Diseases
for DEFB4A gene
(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
|
DEFB4A for disorders About GeneDecksing
OMIM gene information: 602215
OMIM disorders: --
20/92  diseases for DEFB4A (see all 92): About MalaCardsopen-angle glaucoma tinea corporis middle ear cholesteatoma primary open angle glaucoma
lichen planus pulmonary alveolar proteinosis herpetic keratitis mycobacterial infection
allergic contact dermatitis contact dermatitis oral lichen planus vulvovaginal candidiasis
candidiasis oral candidiasis bacterial vaginosis localized scleroderma
cholesteatoma diffuse panbronchiolitis inflammatory bowel disease wegener's granulomatosis
2 diseases from the University of Copenhagen DISEASES database for DEFB4A:Psoriasis Atopic dermatitis 10/57 Novoseek 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
|
Publications
for DEFB4A gene (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 DEFB4A gene, integrated from 9 sources (see all 509):
(articles sorted by number of sources associating them with DEFB4A) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- A peptide antibiotic from human skin. (PubMed id 9202117)1, 2, 3 Harder J.... Schroeder J.-M. (1997)
- 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. (1998)
- The structure of human beta-defensin-2 shows evidence of higher order oligomerization. (PubMed id 10906336)1, 2, 9 Hoover D.M.... Lubkowski J. (2000)
- Chemical synthesis of beta-defensins and LEAP-1/hepcidin. (PubMed id 12010514)1, 2, 9 Kluever E.... Adermann K. (2002)
- 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. (2001)
- 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. (2000)
- 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. (2004)
- Transcriptional regulation of beta-defensin gene expression in tracheal epithelial cells. (PubMed id 10603376)1, 2 Diamond G.... Bevins C.L. (2000)
- Dysregulation of human beta-defensin-2 protein in inf lammatory bowel disease. (PubMed id 19617917)1, 9 Aldhous M.C....Satsangi J. (2009)
- Association of higher DEFB4 genomic copy number with Crohn's disease. (PubMed id 19809410)1, 9 Bentley R.W....Roberts R.L. (2010)
|
External Searches for DEFB4A gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing DEFB4A gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing DEFB4A gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing DEFB4A gene(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
|
| Name | Description |
| PharmGKB entry for DEFB4A | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for DEFB4A gene:
Search GeneIP for patents involving DEFB4A
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for DEFB4A gene(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
|
 | |
 | |
 |
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat DEFB4A | | | Search QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing DEFB4A | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DEFB4A | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat DEFB4A | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat DEFB4A | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat DEFB4A |
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| |  |  |  |  | | | | | | Recombinant Protein for DEFB4A |
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 | | | DEFB4A Proteins, Antibodies, CLIAs, and ELISAs |
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| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DEFB4A |
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