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DEFB107A Gene

protein-coding   GIFtS: 33
GCID: GC08M007673

Defensin, Beta 107A


(Previous symbol: DEFB107)
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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 107A1 2     Beta-Defensin 1072
DEFB1071 2 3     Defensin, Beta 72
Beta-Defensin 72 3     DEFB73
BD-72 3     Defensin, Beta 1073
DEFB-72 3     

External Ids:    HGNC: 180861   Entrez Gene: 2459102   Ensembl: ENSG000001865727   UniProtKB: Q8IZN73   

Export aliases for DEFB107A gene to outside databases

Previous GC identifers: GC08U900542 GC08M007709


(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 DEFB107A Gene:
Defensins form a family of microbicidal and cytotoxic peptides made by neutrophils. Defensins are short, processed
peptide molecules that are classified by structure into three groups: alpha-defensins, beta-defensins and
theta-defensins. All beta-defensin genes are densely clustered in four to five syntenic chromosomal regions.
Chromosome 8p23 contains at least two copies of the duplicated beta-defensin cluster. This duplication results in
two identical copies of defensin, beta 107, DEFB107A and DEFB107B, in tail-to-tail orientation. This gene,
DEFB107A, represents the more centromeric copy. (provided by RefSeq, Jul 2008)

GeneCards Summary for DEFB107A Gene:
DEFB107A (defensin, beta 107A) is a protein-coding gene. An important paralog of this gene is DEFB107B.

UniProtKB/Swiss-Prot: D107A_HUMAN, Q8IZN7
Function: Has antibacterial activity (Potential)




(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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Regulatory elements:
   Regulatory transcription factor binding sites in the DEFB107A gene promoter:
         Pbx1a   HSF1 (long)   HNF-1A   c-Ets-1   AREB6   POU2F1   POU2F1a   HNF-1   HSF1short   Pax-4a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): DEFB107A promoter sequence
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Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat DEFB107A


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

DEFB107A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DEFB107A gene location

GeneLoc information about chromosome 8         GeneLoc Exon Structure

GeneLoc location for GC08M007673:  view genomic region     (about GC identifiers)

Start:
7,669,242 bp from pter      End:
7,673,238 bp from pter
Size:
3,997 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., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: D107A_HUMAN, Q8IZN7 (See protein sequence)
Recommended Name: Beta-defensin 107 precursor  
Size: 70 amino acids; 7846 Da
Caution: It is uncertain whether Met-1 or Met-5 is the initiator
Sequence caution: Sequence=AAZ81951.1; Type=Erroneous initiation;
Secondary accessions: B2RPM1 Q30E75 Q8NET2

Explore the universe of human proteins at neXtProt for DEFB107A: NX_Q8IZN7

REFSEQ proteins: NP_001032757.2  
ENSEMBL proteins: 
 ENSP00000334681  
Reactome Protein details: Q8IZN7

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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:
DEFB: Defensins, beta

1 InterPro protein domain:
 IPR025933 Beta_defensin

Graphical View of Domain Structure for InterPro Entry Q8IZN7

ProtoNet protein and cluster: Q8IZN7

UniProtKB/Swiss-Prot: D107A_HUMAN, Q8IZN7
Similarity: Belongs to the beta-defensin family


Find genes that share domains with DEFB107A           About GenesLikeMe


(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, 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: D107A_HUMAN, Q8IZN7
Function: Has antibacterial activity (Potential)

Animal Models:

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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
D107A_HUMAN, Q8IZN7: Secreted
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
extracellular5

Gene Ontology (GO): 1 cellular component term:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005576extracellular region ----

Find genes that share ontologies with DEFB107A           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 DEFB107A About    
See pathways by source

SuperPathContained pathways About
1Defensins
Defensins0.80
Beta defensins0.80


Find genes that share SuperPaths with DEFB107A           About GenesLikeMe

Pathways by source                                                                                                                                                                 See SuperPaths
Show all pathways


2 Reactome Pathways for DEFB107A
    Defensins
Beta defensins


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Interactions:

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Gene Ontology (GO): 1 biological process term:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0042742defense response to bacterium ----

Find genes that share ontologies with DEFB107A           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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(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 DEFB107A gene: 
NM_001037668.1  

1 Ensembl transcript including schematic representation, and UCSC links where relevant:
ENST00000335021(uc003wrs.1)
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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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DEFB107A expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: --
DEFB107A Expression
About this image

DEFB107A Protein expression data from MOPED1, PaxDb2 and MaxQB3 --

UniProtKB/Swiss-Prot: D107A_HUMAN, Q8IZN7
Tissue specificity: Specifically expressed in testis

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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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  --

ENSEMBL Gene Tree for DEFB107A (if available)
TreeFam Gene Tree for DEFB107A (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for DEFB107A gene
DEFB107B1 2  

Find genes that share paralogs with DEFB107A           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 DEFB107A (see all 71)    About this table                                 

Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 8 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1498584411,2
--7668812(+) CTAAAC/GAGTTC 1 -- ds50010--------
rs1458492151,2
--7668889(+) AGCAGG/TTATAC 1 -- ds50010--------
rs1437393581,2
C--7669060(+) TTCAAC/TGGCTC 1 -- ds50010--------
rs1384097381,2
C--7669068(+) CTCACA/TTTTAT 1 -- ds50010--------
rs1413191721,2
--7670012(+) GAATCA/GTGTAT 1 -- int10--------
rs1450456981,2
--7670088(+) TTGAAA/GAGGAA 1 -- int10--------
rs2019334881,2
C--7670188(+) AGTAAG/TGTTTA 1 -- int10--------
rs1843556741,2
--7670305(+) ACTAAC/TGGAAA 1 -- int10--------
rs1895007841,2
--7670318(+) AATTGC/TAGGGA 1 -- int10--------
rs27374741,2
C--7670323(-) CTAAGC/TCCCTG 1 -- int10--------

HapMap Linkage Disequilibrium report for DEFB107A (7669242 - 7673238 bp)

Structural Variations
     Database of Genomic Variants (DGV) Selected variations for DEFB107A (see all 67):    About this table    
Variant IDTypeSubtypePubMed ID
esv2736558CNV Deletion23290073
dgv26n31CNV Duplication19718026
dgv25n31CNV Duplication19718026
nsv890270CNV Loss21882294
nsv396555CNV Loss16902084
dgv7664n71CNV Loss21882294
nsv508496CNV Loss20534489
nsv499381CNV Loss21111241
dgv7680n71CNV Loss21882294
dgv1170n67CNV Loss20364138

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, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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  --

(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 DEFB107A gene integrated from 10 sources:
(articles sorted by number of sources associating them with DEFB107A)
    Utopia: connect your pdf to the dynamic
world of online information

  1. Discovery of five conserved beta-defensin gene clusters using a computational search strategy. (PubMed id 11854508)1, 2, 3 Schutte B.C.... McCray P.B. Jr. (Proc. Natl. Acad. Sci. U.S.A. 2002)
  2. Cross-species analysis of the mammalian beta-defensin gene family: presence of syntenic gene clusters and preferential expression in the male reproductive tract. (PubMed id 16033865)1, 2 Patil A.A.... Zhang G. (Physiol. Genomics 2005)
  3. Duplication and selection in the evolution of primate beta-defensin genes. (PubMed id 12734011)1, 2 Semple C.A.M.... Dorin J.R. (Genome Biol. 2003)
  4. DNA sequence and analysis of human chromosome 8. (PubMed id 16421571)2 Nusbaum C....Lander E.S. (Nature 2006)
  5. Polymorphic segmental duplications at 8p23.1 challenge the determination of individual defensin gene repertoires and the assembly of a contiguous human reference sequence. (PubMed id 15588320)1 Taudien S....Platzer M. (BMC Genomics 2004)
  6. Evidence for duplication of the human defensin gene DEFB4 in chromosomal region 8p22-23 and implications for the analysis of SNP allele distribution. (PubMed id 15727258)1 Boniotto M....Gallagher G. (Genet. Test. 2004)
  7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S.... Malek J. (Genome Res. 2004)
  8. Extensive normal copy number variation of a beta-defensin antimicrobial-gene cluster. (PubMed id 12916016)1 Hollox E.J....Barber J.C. (Am. J. Hum. Genet. 2003)
  9. Identification of multiple novel epididymis-specific beta-defensin isoforms in humans and mice. (PubMed id 12193721)1 Yamaguchi Y.... Ouchi Y. (J. Immunol. 2002)
  10. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)

(in PubMed, OMIM, and NCBI Bookshelf)
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 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)
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Entrez Gene: 245910 HGNC: 18086 Ensembl:ENSG00000186572 euGenes: HUgn245910 ECgene: DEFB107A
H-InvDB: DEFB107A

(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 DEFB107A 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 DEFB107A gene:
Search GeneIP for patents involving DEFB107A

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, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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 Search ThermoFisher Antibodies for DEFB107A
 Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DEFB107A
 inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for DEFB107A
 inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for DEFB107A
 Search LSBio for Antibodies for DEFB107A
Customized transgenic rodents for:
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 Browse compounds at ApexBio
 Search Addgene for plasmids for DEFB107A
  Search eBioscience for proteins for DEFB107A
  Search eBioscience for elisas for DEFB107A
  eBioscience FlowRNA Probe Sets
       
GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014

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