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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

DEFB105A Gene

protein-coding   GIFtS: 38
GCID: GC08M007679

defensin, beta 105A

(Previous names: defensin, beta 105 )
(Previous symbol: DEFB105)
  Search for DEFB105A
in our new
 Human Malady Compendium 
Biological research products
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Defensin, Beta 105A1 2     Beta Defensin 52
DEFB-51 2 3     Beta-Defensin 1052
DEFB1051 2 3     Defensin, Beta 52
Defensin, Beta 1051 3     BD53
Beta-Defensin 52 3     DEFB53
BD-52 3     

External Ids:    HGNC: 180871   Entrez Gene: 2459082   Ensembl: ENSG000001865627   UniProtKB: Q8NG353   

Export aliases for DEFB105A gene to outside databases

Previous GC identifers: GC08P007333 GC08M007717 GC08M007718 GC08M006962


(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 DEFB105A:
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 105, DEFB105A and DEFB105B, in tail-to-tail orientation. This gene, DEFB105A,
represents the more centromeric copy. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: D105A_HUMAN, Q8NG35
Function: Has antibacterial activity (Potential)

Gene Wiki entry for DEFB105A


(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
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the DEFB105A gene promoter:
         AREB6   C/EBPbeta   POU2F1   Pbx1a   POU2F1a   HSF1 (long)   HSF1short   CUTL1   Pax-4a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidDEFB105A promoter sequence
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Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DEFB105A


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

DEFB105A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DEFB105A gene location

GeneLoc information about chromosome 8         GeneLoc Exon Structure

GeneLoc location for GC08M007679:  view genomic region     (about GC identifiers)

Start:
7,679,488 bp from pter      End:
7,681,411 bp from pter
Size:
1,924 bases      Orientation:
minus strand

(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: D105A_HUMAN, Q8NG35 (See protein sequence)
Recommended Name: Beta-defensin 105 precursor  
Size: 78 amino acids; 8923 Da
Subcellular location: Secreted
Secondary accessions: A1A581 Q8IZN8

Explore the universe of human proteins at neXtProt for DEFB105A: NX_Q8NG35

DEFB105A Protein expression data from MOPED and PaxDb:    About this image 
DEFB105A Protein Expression

REFSEQ proteins: NP_689463.1  
ENSEMBL proteins: 
 ENSP00000334330  
Reactome Protein details: Q8NG35
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Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

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

DEFB105A for ontologies           About GeneDecksing



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(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

DEFB105A for domains           About GeneDecksing

1 InterPro domain/family:
 IPR025933 Beta_defensin

Graphical View of Domain Structure for InterPro Entry Q8NG35

ProtoNet protein and cluster: Q8NG35

1 Blocks protein family: IPB001855 Beta defensin

UniProtKB/Swiss-Prot: D105A_HUMAN, Q8NG35
Similarity: Belongs to the beta-defensin family


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Molecular Function:

     UniProtKB/Swiss-Prot Summary: D105A_HUMAN, Q8NG35
Function: Has antibacterial activity (Potential)

Animal Models:

   inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for DEFB105A 

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(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-pathwaycontained gene-specific pathways
1Beta defensins
Beta defensins1.00
Defensins0.80
Beta-defensins bind microbial membranes causing disruption0.89
Pre-pro-defensins are cleaved to remove the signal peptide0.78
2Immune System
Immune System1.00
Innate Immune System0.46

Pathway sources
See GeneCards unified pathways
Show all pathways


5/6        Reactome Pathways for DEFB105A (see all 6)
    Pre-pro-defensins are cleaved to remove the signal peptide
Defensins
Beta defensins
Beta-defensins bind microbial membranes causing disruption
Immune System



DEFB105A for pathways           About GeneDecksing

Interactions:

    Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for DEFB105A

Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

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

DEFB105A for ontologies           About GeneDecksing



(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
Browse Small Molecules at EMD Millipore
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Browse Tocris compounds for DEFB105A
Search CenterWatch for drugs/clinical trials and news about DEFB105A / D105A 

(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,
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About This Section

REFSEQ mRNAs for DEFB105A gene: 
NM_152250.1  

1 Ensembl transcript including schematic representation, and UCSC links where relevant:
ENST00000334773(uc011kwr.2)

miRNA
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Clone
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3 AceView cDNA sequences:

AF540977 NM_152250 AB089180 

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™, 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

DEFB105A expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --
DEFB105A Expression
About this image
See DEFB105A Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for DEFB105A

UniProtKB/Swiss-Prot: D105A_HUMAN, Q8NG35
Tissue specificity: Specifically expressed in testis

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In Situ
Assay Products:
 

 
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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)
About This Section
  --

ENSEMBL Gene Tree for DEFB105A (if available)
TreeFam Gene Tree for DEFB105A (if available) 

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
Paralogs for DEFB105A gene
DEFB105B1 2  
1 SIMAP similar gene for DEFB105A using alignment to 1 protein entry:     D105A_HUMAN:
DEFB105B

DEFB105A for paralogs           About GeneDecksing



(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

10/11 NCBI SNPs in DEFB105A are shown (see all 11    About this table
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 8 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs2008411851,2
--7681264(+) GCCCAA/GTCAAA 2 -- int1 us2k10--------
rs2000990861,2
--7681380(+) TCTTCA/GGAATA 2 -- us2k10--------
rs2021027181,2
--7682797(+) CCACAC/GACAGG 2 -- us2k1 int10--------
rs1866539111,2
--7682859(+) GATATC/TCCCCA 2 -- int1 us2k10--------
rs1999797961,2
----7679449(+) GATTTC/GGATAA 1 -- ds50010--------
rs2007577971,2
----7679549(+) TGCAGC/TAGAGA 2 Y C mis10--------
rs2010906011,2
----7681124(+) ATTAC-/AAAAAAA 2 -- us2k1 int10--------
rs2001473091,2
----7682178(+) AAGCAC/TGAAAA 2 -- us2k10--------
rs2002967861,2
----7681124(+) ATTAC-/AAAAAA 2 -- int1 us2k10--------
rs2005787311,2
----7679168(+) GAAACC/GTCATC 1 -- ds50010--------

HapMap Linkage Disequilibrium report for DEFB105A (7679488 - 7681411 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 34 variations for DEFB105A
     15/26 CNVs (see all 26): 70259 0734 8593 0736 34519 2119 70271 31424 7702 65046 9081 52607 52617 0296 32996
     8 Inversions: 37309 37307 37308 37304 37305 37306 37310 37303

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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.)
About This Section

DEFB105A for disorders           About MalaCards

DEFB105A for disorders           About GeneDecksing

Human Genome Epidemiology (HuGE) Navigator: DEFB105A (1 document)

Export disorders for DEFB105A 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)
About This Section

PubMed articles for DEFB105A gene, integrated from 9 sources (see all 12):
(articles sorted by number of sources associating them with DEFB105A)
    Utopia: connect your pdf to the dynamic
world of online information

  1. Duplication and selection in the evolution of primate beta-defensin genes. (PubMed id 12734011)1, 2, 3 Semple C.A.M.... Dorin J.R. (2003)
  2. Identification of multiple novel epididymis-specific beta-defensin isoforms in humans and mice. (PubMed id 12193721)1, 2 Yamaguchi Y.... Ouchi Y. (2002)
  3. Discovery of five conserved beta-defensin gene clusters using a computational search strategy. (PubMed id 11854508)1, 3 Schutte B.C.... McCray P.B. Jr. (2002)
  4. Human defensin 5 disulfide array mutants: disulfide b ond deletion attenuates antibacterial activity against Staphylococcus aureus. (PubMed id 21861459)1 Wanniarachchi Y.A....Nolan E.M. (2011)
  5. Copy number variation of defensin genes and HIV infection in Brazilian children. (PubMed id 19194307)1 Milanese M....Crovella S. (2009)
  6. 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 Patil A.A.... Zhang G. (2005)
  7. 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. (2004)
  8. 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. (2004)
  9. 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. (2004)
  10. Extensive normal copy number variation of a beta-defensin antimicrobial-gene cluster. (PubMed id 12916016)1 Hollox E.J....Barber J.C. (2003)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section
 ANDOR
Aliases
Free Text  

  Query String
PubMed
OMIM
NCBI Bookshelf
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section
Entrez Gene: 245908 HGNC: 18087 AceView: DEFB105.1 Ensembl:ENSG00000186562 euGenes: HUgn245908
ECgene: DEFB105A H-InvDB: DEFB105A

(According to HUGE)
About This Section
  --

(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
NameDescription
PharmGKB entry for DEFB105A Pharmacogenomics, SNPs, Pathways

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
About This Section
Patent Information for DEFB105A gene:
Search GeneIP for patents involving DEFB105A

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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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About This Section

 
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GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013 , 14 May 2013

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VWF
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von Willebrand factor
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