DEFA3 Gene
protein-coding GIFtS: 51
GCID: GC08M006875
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defensin, alpha 3, neutrophil-specific
(Previous symbol: DEF3)
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Aliases
for DEFA3 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Defensin, Alpha 3, Neutrophil-Specific1 2 | | HNP32 | | DEF31 2 3 | | Defensin 3, Neutrophil-Specific2 | | HNP-31 2 3 | | Neutrophil Defensin 32 | | HP-32 3 | | Neutrophil Peptide 32 | | HP32 3 | | Defensin, Alpha 33 |
Export aliases for DEFA3 gene to outside databasesPrevious GC identifers: GC08M006918 GC08M007108 GC08M007033 GC08M006860 |
Summaries
for DEFA3 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 DEFA3:
Defensins are a family of microbicidal and cytotoxic peptides thought to be involved in host defense. They are abundantin the granules of neutrophils and also found in the epithelia of mucosal surfaces such as those of the intestine,respiratory tract, urinary tract, and vagina. Members of the defensin family are highly similar in protein sequenceand distinguished by a conserved cysteine motif. The protein encoded by this gene, defensin, alpha 3, is found in themicrobicidal granules of neutrophils and likely plays a role in phagocyte-mediated host defense. Several alphadefensin genes are clustered on chromosome 8. This gene differs from defensin, alpha 1 by only one amino acid. Thisgene and the gene encoding defensin, alpha 1 are both subject to copy number variation. (provided by RefSeq, May 2010)
UniProtKB/Swiss-Prot: DEF3_HUMAN, P59666Function: Defensin 2 and defensin 3 have antibiotic, fungicide and antiviral activities. Has antimicrobial activityagainst Gram-negative and Gram-positive bacteria. Defensins are thought to kill microbes by permeabilizing theirplasma membrane
Gene Wiki entry for DEFA3
|
Genomic Views
for DEFA3 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_023736.17
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the DEFA3 gene promoter:
AML1a c-Myb Nkx2-5 FOXL1
Other transcription factors
Search SABiosciences Chromatin IP Primers for DEFA3
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DEFA3 |
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: 8p23.1DEFA3 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 GC08M006875: view genomic region
(about GC identifiers)
Start:
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6,873,391 bp from pter |
End:
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6,875,823 bp from pter |
Size:
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2,433 bases |
Orientation:
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minus strand |
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Proteins
for DEFA3 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: DEF3_HUMAN, P59666 (See
protein sequence)Recommended Name: Neutrophil defensin 3 precursor Size: 94 amino acids; 10245 Da
Subunit: Dimer
Subcellular location: Secreted
6 PDB 3D structures from  and Proteopedia  for DEFA3:1DFN (3D)
1ZMH (3D)
1ZMI (3D)
1ZMK (3D)
2PM4 (3D)
2PM5 (3D)
Secondary accessions: P11479 Q14125Explore the universe of human proteins at neXtProt for DEFA3: NX_P59666
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_P59666
DEFA3 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_005208.1
ENSEMBL proteins: ENSP00000328359 Reactome Protein details: P59666
Human Recombinant Protein Products:
Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view): About this table
DEFA3 for ontologies About GeneDecksing
DEFA3 Antibody Products:
Assay Products for DEFA3: |
Protein
Domains /
Families
for DEFA3 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
DEFA3 for domains About GeneDecksing
4 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry P59666ProtoNet protein and cluster: P59666 1 Blocks protein family: IPB002366 Defensin propeptide
UniProtKB/Swiss-Prot: DEF3_HUMAN, P59666Similarity: Belongs to the alpha-defensin family |
Function
for DEFA3 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: DEF3_HUMAN, P59666Function: Defensin 2 and defensin 3 have antibiotic, fungicide and antiviral activities. Has antimicrobial activityagainst Gram-negative and Gram-positive bacteria. Defensins are thought to kill microbes by permeabilizing theirplasma membrane Genatlas biochemistry entry for DEFA3:defensin alpha 3,3-4kDa,,hematopoietic,released from azurophil granules of neutrophiles,oxygen independent phagocytosisof Gram+,Gram- bacteria,many fungi,some viruses
Clone
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OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for DEFA3
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
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Synthesis Service for DEFA3 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DEFA3 |
1 GenomeRNAi human phenotype for DEFA3:
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Pathways & Interactions
for DEFA3 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 | Immune System | | | 2 | Alpha-defensins | | | 3 | Beta defensins | | | 4 | Selected targets of C/EBPalpha | |
Pathway sources
See GeneCards unified pathways
Show all pathways
1 EMD Millipore Pathway for DEFA3
5/6 
Reactome Pathways for DEFA3 (see all 6)
DEFA3 for pathways About GeneDecksing
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for DEFA3
STRING Interaction
Network Preview (showing 1 interactants - click image to see more details)
3 Interacting proteins for DEFA3 (P596662, 3 ENSP000003283594) via UniProtKB, MINT, STRING, and/or I2DAbout this table
Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6): About this table
DEFA3 for ontologies About GeneDecksing
|
Drugs & Compounds
for DEFA3 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
|
DEFA3 for compounds About GeneDecksing
 Browse Tocris compounds for DEFA3
3 Novoseek chemical compound relationships for DEFA3 gene About this table
| Compound |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| hbd2 |
82.2 |
3 |
12654098 (1), 20020833 (1), 10906336 (1) |
| anti-fungal |
11.3 |
1 |
10769165 (1) |
| arginine |
0.342 |
2 |
10769165 (2) |
Search CenterWatch for drugs/clinical trials and news about DEFA3 / DEF3
|
Transcripts
for DEFA3 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 DEFA3 gene: NM_005217.3 Unigene Cluster for DEFA3: Defensin, alpha 3, neutrophil-specific Hs.654448 [show with all ESTs]Unigene Representative Sequence: BX4270531 Ensembl transcript including schematic representation, and UCSC links where relevant: ENST00000327857(uc003wqz.1)
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for DEFA3
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for DEFA3
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: DEFA3 (NM_005217) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for DEFA3 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DEFA3 |
Additional cDNA sequence: BC027917.1 BC119706.2 M21131.1 M23281.1 X13621.1 2 DOTS entries: DT.87017167 DT.40131822 24/377 AceView cDNA sequences (see all 377): AW468012 BE831402 AW274523 AJ706312 BE831404 BE831405 BE831397 AJ705663 AW950276 BC027917 AJ713328 BE831407 BM725836 BE831385 BP429396 AW467613 AW440905 BE831314 BE831403 BE831364 AA321190 AA321199 AW291977 AW236257
GeneLoc Exon Structure
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Expression
for DEFA3 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
| DEFA3 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GACTGCTATT
About this image
See DEFA3 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for DEFA3
SOURCE GeneReport for Unigene cluster: Hs.654448
SABiosciences Custom PCR Arrays for DEFA3
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for DEFA3
Browse OriGene validated miRNA SYBR primer pairs
| | | Search SABiosciences RT2 qPCR
Primer Assays in human, mouse, rat DEFA3 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat DEFA3 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat DEFA3 |
Orthologs
for DEFA3 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 DEFA3 (if available)
TreeFam Gene Tree for DEFA3 (if available) |
Paralogs
for DEFA3 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for DEFA3 gene
- DEFA1B1 2 DEFA11 2 DEFA42 DEFA62 DEFA52
6 SIMAP similar genes for DEFA3 using alignment to 2 protein entries: DEF3_HUMAN (see all proteins):DEFA1 DEFA1B DEFA4 DEFA5 DEFA6 Em
DEFA3 for paralogs About GeneDecksing
|
Genomic Variants
for DEFA3 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 DEFA3 (6873391 - 6875823 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 12 variations for DEFA3
12 CNVs: 95199 36858 31422 70242 82441 36853 32994 8592 1442 4577 23226 3719 | SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing DEFA3 |
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Disorders
/ Diseases
for DEFA3 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
DEFA3 for disorders About GeneDecksing
OMIM gene information: 604522
OMIM disorders: --
20/32  diseases for DEFA3 (see all 32): About MalaCardsmultidrug-resistant tuberculosis chronic venous leg ulcers clostridium difficile bacterial vaginosis
myelomonocytic leukemia chronic myelomonocytic leukemia systemic lupus erythematosus lupus erythematosus
hearing loss pterygium squamous cell carcinoma pulmonary fibrosis
rheumatoid arthritis pulmonary tuberculosis colorectal adenoma and carcinoma periodontitis
periodontal disease vaginitis tuberculosis adenoma
Human Genome Epidemiology (HuGE) Navigator: DEFA3 (7 documents)
Export disorders for DEFA3 gene to outside databases
|
Publications
for DEFA3 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 DEFA3 gene, integrated from 9 sources (see all 95):
(articles sorted by number of sources associating them with DEFA3) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- The structure of neutrophil defensin genes. (PubMed id 8477861)1, 2, 3, 9 Linzmeier R.... Ganz T. (1993)
- Inter-population variability of DEFA3 gene absence: correlation with haplotype structure and population variability. (PubMed id 17214878)1, 3, 9 Ballana E....Estivill X. (2007)
- Copy number polymorphism and expression level variation of the human alpha-defensin genes DEFA1 and DEFA3. (PubMed id 15944200)1, 3, 9 Aldred P.M....Armour J.A. (2005)
- 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)
- The structure of neutrophil defensin genes. (PubMed id 8325384)1, 2 Linzmeier R....Ganz T. (1993)
- Posttranslational processing of defensins in immature human myeloid cells. (PubMed id 1339298)1, 2 Valore E.V. and Ganz T. (1992)
- Crystal structure of defensin HNP-3, an amphiphilic dimer: mechanisms of membrane permeabilization. (PubMed id 2006422)1, 2 Hill C.P.... Eisenberg D. (1991)
- Differentiation stage-specific expression of a gene during granulopoiesis. (PubMed id 2918759)1, 2 Wiedemann L.M.... Birnie G.D. (1989)
- Determination of the disulfide array in the human defensin HNP-2. A covalently cyclized peptide. (PubMed id 2917986)1, 2 Selsted M.E. and Harwig S.S.L. (1989)
- Isolation and characterization of human defensin cDNA clones. (PubMed id 3174637)1, 2 Daher K.A.... Kronenberg M. (1988)
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External Searches for DEFA3 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
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Genome Databases showing DEFA3 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing DEFA3 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing DEFA3 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 DEFA3 | Pharmacogenomics, SNPs, Pathways |
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| | |
About This Section
| Patent Information for DEFA3 gene:
Search GeneIP for patents involving DEFA3
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for DEFA3 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
|
 | |
 | |
 |
| | |  | Browse OriGene Antibodies | | OriGene shRNA RFP for DEFA3 | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for DEFA3 | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for DEFA3 | | | Browse OriGene Protein Over-expression Lysates | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for DEFA3 | | OriGene 3'-UTR Clone for DEFA3 | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for DEFA3 | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for DEFA3 | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | Browse OriGene full length recombinant human proteins expressed in human HEK293 cells | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling | | | OriGene Custom Antibody Services for DEFA3 | | OriGene Custom Protein Services for DEFA3 | | | OriGene Custom Immunoassay Development | | |
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat DEFA3 | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing DEFA3 | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DEFA3 | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat DEFA3 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat DEFA3 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat DEFA3 |
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| | | | Search Tocris compounds for DEFA3 |
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 | | | | |  |  |  | | | | Search ThermoFisher Antibodies for DEFA3 |
| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DEFA3 |
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