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DEFA5 Gene

protein-coding   GIFtS: 57
GCID: GC08M006900

Defensin, Alpha 5, Paneth Cell-Specific


(Previous symbol: DEF5)
  See DEFA5-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)
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Aliases
Defensin, Alpha 5, Paneth Cell-Specific1 2     Defensin 52
DEF51 2 3 5     Defensin, Alpha 5, Preproprotein2
HD5(20-94)2 3     defensin-52
HD-52     Defensin, Alpha 53

External Ids:    HGNC: 27641   Entrez Gene: 16702   Ensembl: ENSG000001648167   OMIM: 6004725   UniProtKB: Q015233   

Export aliases for DEFA5 gene to outside databases

Previous GC identifers: GC08M006957 GC08M007149 GC08M007057 GC08M006654


(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 DEFA5 Gene:
Defensins are a family of microbicidal and cytotoxic peptides thought to be involved in host defense. They are
abundant in 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 sequence and distinguished by a conserved cysteine motif. Several of the alpha defensin genes appear to
be clustered on chromosome 8. The protein encoded by this gene, defensin, alpha 5, is highly expressed in the
secretory granules of Paneth cells of the ileum. (provided by RefSeq, Jul 2008)

GeneCards Summary for DEFA5 Gene:
DEFA5 (defensin, alpha 5, Paneth cell-specific) is a protein-coding gene. Diseases associated with DEFA5 include urethritis, and microsporidiosis. An important paralog of this gene is DEFA1B.

UniProtKB/Swiss-Prot: DEF5_HUMAN, Q01523
Function: Has antimicrobial activity against Gram-negative and Gram-positive bacteria. Defensins are thought to
kill microbes by permeabilizing their plasma membrane. All DEFA5 peptides exert antimicrobial activities, but
their potency is affected by peptide processing

Gene Wiki entry for DEFA5 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 at NCBI GenBank:
NC_000008.10  NC_018919.2  NT_023736.18  
Regulatory elements:
   Regulatory transcription factor binding sites in the DEFA5 gene promoter:
         FOXC1   POU2F1   FOXF2   POU2F1a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidDEFA5 promoter sequence
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Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat DEFA5


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

DEFA5 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DEFA5 gene location

GeneLoc information about chromosome 8         GeneLoc Exon Structure

GeneLoc location for GC08M006900:  view genomic region     (about GC identifiers)

Start:
6,912,829 bp from pter      End:
6,914,259 bp from pter
Size:
1,431 bases      Orientation:
minus 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: DEF5_HUMAN, Q01523 (See protein sequence)
Recommended Name: Defensin-5 precursor  
Size: 94 amino acids; 10071 Da
Subunit: Homodimer
6 PDB 3D structures from and Proteopedia for DEFA5:
1ZMP (3D)        2LXZ (3D)        3I5W (3D)        4E82 (3D)        4E83 (3D)        4E86 (3D)    
Secondary accessions: A0JDY6 Q3KNV2

Explore the universe of human proteins at neXtProt for DEFA5: NX_Q01523

Explore proteomics data for DEFA5 at MOPED

Post-translational modifications: 

  • Glycosylated1
  • Modification sites at neXtProt

  • See DEFA5 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_066290.1  
    ENSEMBL proteins: 
     ENSP00000329890  
    Reactome Protein details: Q01523

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    antibodies-online proteins for DEFA5 (6 products) 

     
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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:
    DEFA: Defensins, alpha

    4 InterPro protein domains:
     IPR016327 Alpha-defensin
     IPR006080 Defensin_beta/neutrophil
     IPR006081 Mammalian_defensins
     IPR002366 Defensin_propep

    Graphical View of Domain Structure for InterPro Entry Q01523

    ProtoNet protein and cluster: Q01523

    1 Blocks protein domain: IPB002366 Defensin propeptide

    UniProtKB/Swiss-Prot: DEF5_HUMAN, Q01523
    Similarity: Belongs to the alpha-defensin family


    Find genes that share domains with DEFA5           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: DEF5_HUMAN, Q01523
    Function: Has antimicrobial activity against Gram-negative and Gram-positive bacteria. Defensins are thought to
    kill microbes by permeabilizing their plasma membrane. All DEFA5 peptides exert antimicrobial activities, but
    their potency is affected by peptide processing

         Genatlas biochemistry entry for DEFA5:
    defensin alpha 5,3-4kDa,enteric Paneth cells,released from azurophil granules of Paneth cells,oxygen independent
    phagocytosis of Gram+,Gram- bacteria,many fungi,some viruses,colocolazing and regulated in mice with matrilysin
    (MMP7) in innate host defense

    Phenotypes:
         2 GenomeRNAi human phenotypes for DEFA5:
     Decreased TP53 protein express  Synthetic lethal with Ras 

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for DEFA5

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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
    DEF5_HUMAN, Q01523: Secreted. Cytoplasmic vesicle, secretory vesicle. Note=Peptides HD5(20-94), HD5(23-94) and
    HD5(29-94) are found within tissues, HD5(20-94) being the predominant intracellular form. Peptides HD5(56-94) and
    HD5(63-94) are found in the extracellular milieu, HD5(63-94) being the most abundant form
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    golgi apparatus4
    cytoskeleton1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS--
    GO:0005615extracellular space IEA--
    GO:0005796Golgi lumen TAS--
    GO:0030133transport vesicle IEA--
    GO:0034774secretory granule lumen TAS--

    Find genes that share ontologies with DEFA5           About GenesLikeMe


    (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 DEFA5 About    
    See pathways by source

    SuperPathContained pathways About
    1Defensins
    Defensins0.80
    Alpha-defensins0.00


    Find genes that share SuperPaths with DEFA5           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 Reactome Pathways for DEFA5
        Defensins
    Alpha-defensins


        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for DEFA5
    Interactions:

        Search GeneGlobe Interaction Network for DEFA5

    STRING Interaction Network Preview (showing 5 interactants - click image to see 7)

    Selected Interacting proteins for DEFA5 (Q015233 ENSP000003298904) via UniProtKB, MINT, STRING, and/or I2D (see all 7)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PRSS1P074773, ENSP000003087204I2D: score=1 STRING: ENSP00000308720
    DEFA4ENSP000002974354STRING: ENSP00000297435
    DEFA6ENSP000002974364STRING: ENSP00000297436
    DEFB1ENSP000002974394STRING: ENSP00000297439
    DEFB4AENSP000003035324STRING: ENSP00000303532
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006952defense response ----
    GO:0019731antibacterial humoral response IDA15616305
    GO:0031640killing of cells of other organism IEA--
    GO:0042742defense response to bacterium ----
    GO:0045087innate immune response TAS--

    Find genes that share ontologies with DEFA5           About GenesLikeMe



    (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 DEFA5 (DEF5)

    1 Novoseek inferred chemical compound relationship for DEFA5 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    hbd2 93.8 23 19079820 (3), 14568394 (2), 15702860 (1), 19080508 (1) (see all 8)



    Find genes that share compounds with DEFA5           About GenesLikeMe



    (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,
    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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for DEFA5 gene: 
    NM_021010.1  

    Unigene Cluster for DEFA5:

    Defensin, alpha 5, Paneth cell-specific
    Hs.655233  [show with all ESTs]
    Unigene Representative Sequence: BU729350
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000330590(uc003wra.1)
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    Additional mRNA sequence: 

    BC069690.1 BC107079.2 

    3 DOTS entries:

    DT.102579  DT.97859354  DT.121482168 

    22 AceView cDNA sequences:

    BM768516 BM856063 BM768678 NM_021010 BM855276 BM765919 BM830493 BM703419 
    AW951437 BM855593 BM854660 AA377362 BC069690 BM855680 BM830508 T29684 
    BM855729 AL042376 CA395020 BM715953 AL042377 BM855702 

    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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    DEFA5 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AGGACCATCG
    DEFA5 Expression
    About this image

    DEFA5 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    DEFA5 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.655233

    UniProtKB/Swiss-Prot: DEF5_HUMAN, Q01523
    Tissue specificity: Paneth cells of the small intestine (at protein level)

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    (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 chimp.

    Orthologs for DEFA5 gene from 1 species (see representative species )    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chimpanzee
    (Pan troglodytes)
    Mammalia DEFA51 defensin, alpha 5, Paneth cell-specific 97.52(n)
    94.68(a)
      463972  NM_001012639.1  NP_001012657.1 


    ENSEMBL Gene Tree for DEFA5 (if available)
    TreeFam Gene Tree for DEFA5 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for DEFA5 gene
    DEFA1B2  DEFA32  DEFA62  DEFA42  DEFA12  
    6 SIMAP similar genes for DEFA5 using alignment to 1 protein entry:     DEF5_HUMAN:
    DEFA1    DEFA1B    DEFA6    DEFA3    DEFA4    Em

    Find genes that share paralogs with DEFA5           About GenesLikeMe



    (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 DEFA5 (see all 165)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 8 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1932062431,2
    C--6912345(+) TGGCTA/CAAGCA 1 -- ds50010--------
    rs1444081911,2
    C--6912561(+) GAGCCA/GAGATT 1 -- ds50010--------
    rs46455801,2
    C,F,A,H--6912572(+) GCACCA/GCTGTA 1 -- ds500112Minor allele frequency- G:0.29NA WA CSA EA 377
    rs1474160891,2
    --6912586(+) CAGCTC/TGGGTG 1 -- ds50010--------
    rs1836442741,2
    --6912621(+) AACAAC/TAATAA 1 -- ds50010--------
    rs339367191,2
    C--6912777(+) CAAAA-/GAAAAA 1 -- ds50010--------
    rs456282401,2
    C,F--6912787(+) AAAAGG/AAAAAA 1 -- ds50012Minor allele frequency- A:0.18NA 122
    rs578682801,2
    C--6912839(+) TTGAAC/TTTTAT 1 -- ut312Minor allele frequency- T:0.06WA 120
    rs454778021,2
    C--6912844(+) CTTTAT/CTTTGG 1 -- ut312Minor allele frequency- C:0.18NA 122
    rs1154181531,2
    C,F--6912855(+) AGAGAG/CAAATT 1 -- ut311Minor allele frequency- C:0.01WA 118

    HapMap Linkage Disequilibrium report for DEFA5 (6912829 - 6914259 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for DEFA5 (see all 17):    About this table    
    Variant IDTypeSubtypePubMed ID
    dgv7658n71CNV Loss21882294
    nsv831222CNV Loss17160897
    nsv831221CNV Gain17160897
    nsv821656CNV Gain15273396
    nsv528374CNV Gain19592680
    esv2752262CNV Gain17911159
    nsv890069CNV Gain21882294
    dgv7657n71CNV Gain21882294
    nsv465436CNV Gain19166990
    nsv890071CNV Gain21882294

    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, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 600472    OMIM disorders: --

    3 diseases for DEFA5:    
    About MalaCards
    urethritis    microsporidiosis    vulvovaginal candidiasis

    2 diseases from the University of Copenhagen DISEASES database for DEFA5:
    Crohn's disease     Vulvovaginal candidiasis

    Find genes that share disorders with DEFA5           About GenesLikeMe

    Selected Novoseek inferred disease relationships for DEFA5 gene (see all 11)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    metaplasia 57 5 19250512 (1), 11871772 (1), 15128357 (1), 15976333 (1)
    inflammatory bowel diseases 55.4 5 11156637 (2), 18394979 (1)
    gastritis 45.6 1 20400909 (1)
    intestinal infection 43.5 1 16619196 (1)
    colitis 42.1 2 15095125 (1), 12519391 (1)
    colitis ulcerative 41 2 15095125 (1), 18523026 (1)
    inflammation 28 6 12519391 (2), 15479689 (1), 19549264 (1), 19904243 (1) (see all 5)
    systemic disease 10.9 2 15123078 (1), 15931529 (1)
    tumors 3.18 2 20428773 (1)
    reflux 0.875 1 16036501 (1)

    Genetic Association Database (GAD): DEFA5
    Human Genome Epidemiology (HuGE) Navigator: DEFA5 (11 documents)

    Export disorders for DEFA5 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 DEFA5 gene, integrated from 10 sources (see all 124):
    (articles sorted by number of sources associating them with DEFA5)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Paneth cells of the human small intestine express an antimicrobial peptide gene. (PubMed id 1429669)1, 2, 3, 9 Jones D.E. and Bevins C.L. (J. Biol. Chem. 1992)
    2. Single nucleotide polymorphisms in human Paneth cell defensin A5 may confer susceptibility to inflammatory bowel disease in a New Zealand Caucasian population. (PubMed id 18394979)1, 4, 9 Ferguson L.R....Philpott M. (Dig Liver Dis 2008)
    3. Crystal structures of human alpha-defensins HNP4, HD5, and HD6. (PubMed id 17088326)1, 2, 9 Szyk A.... Lubkowski J. (Protein Sci. 2006)
    4. Antibacterial activity and specificity of the six human alpha- defensins. (PubMed id 15616305)1, 2, 9 Ericksen B.... Lehrer R.I. (Antimicrob. Agents Chemother. 2005)
    5. Risk of meningioma and common variation in genes related to innate immunity. (PubMed id 20406964)1, 4 Rajaraman P....Inskip P.D. (amp 2010)
    6. Polymorphisms in innate immunity genes and risk of childhood leukemia. (PubMed id 20438785)1, 4 Han S....Kang D. (Hum. Immunol. 2010)
    7. Identification of fetal and maternal single nucleotide polymorphisms in candidate genes that predispose to spontaneous preterm labor with intact membranes. (PubMed id 20452482)1, 4 Romero R....Menon R. (Am. J. Obstet. Gynecol. 2010)
    8. A genetic association study of maternal and fetal candidate genes that predispose to preterm prelabor rupture of membranes (PROM). (PubMed id 20673868)1, 4 Romero R....Menon R. (Am. J. Obstet. Gynecol. 2010)
    9. Copy number variation of defensin genes and HIV infection in Brazilian children. (PubMed id 19194307)1, 4 Milanese M....Crovella S. (J. Acquir. Immune Defic. Syndr. 2009)
    10. Single nucleotide polymorphisms and the haplotype in the DEFB1 gene are associated with atopic dermatitis in a Korean population. (PubMed id 19135873)1, 4 Kim E....Yang J.M. (J. Dermatol. Sci. 2009)

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    Entrez Gene: 1670 HGNC: 2764 AceView: DEFA5 Ensembl:ENSG00000164816 euGenes: HUgn1670
    ECgene: DEFA5 H-InvDB: DEFA5

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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 DEFA5 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
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    Patent Information for DEFA5 gene:
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