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DEFB106B Gene

protein-coding   GIFtS: 39
GCID: GC08M007340

Defensin, Beta 106B

  See related disease
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, Beta 106B1 2     Beta-Defensin 1062
Beta-Defensin 62 3     BD63
Defensin, Beta 1062 3     DEFB1063
BD-62 3     DEFB63
DEFB-62 3     

External Ids:    HGNC: 288791   Entrez Gene: 5038412   Ensembl: ENSG000001870827   UniProtKB: Q8N1043   

Export aliases for DEFB106B gene to outside databases

Previous GC identifers: GC08U900536 GC08M007329


(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 DEFB106B 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 106, DEFB106A and DEFB106B, in head-to-head orientation. This gene,
DEFB106B, represents the more telomeric copy. (provided by RefSeq, Jul 2008)

GeneCards Summary for DEFB106B Gene:
DEFB106B (defensin, beta 106B) is a protein-coding gene. Diseases associated with DEFB106B include intestinal neoplasm. An important paralog of this gene is DEFB106A.

UniProtKB/Swiss-Prot: D106A_HUMAN, Q8N104
Function: Has antibacterial activity




(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:
NC_000008.11  NC_018919.2  NT_023736.18  NT_187570.1  
Regulatory elements:
   Regulatory transcription factor binding sites in the DEFB106B gene promoter:
         Pbx1a   HSF1 (long)   CUTL1   AREB6   S8   POU2F1   POU2F1a   Chx10   Cart-1   HSF1short   
         Other transcription factors

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Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat DEFB106B


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

DEFB106B Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DEFB106B gene location

GeneLoc information about chromosome 8         GeneLoc Exon Structure

GeneLoc location for GC08M007340:  view genomic region     (about GC identifiers)

Start:
7,340,026 bp from pter      End:
7,343,922 bp from pter
Size:
3,897 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., 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: D106A_HUMAN, Q8N104 (See protein sequence)
Recommended Name: Beta-defensin 106 precursor  
Size: 65 amino acids; 7369 Da
1 PDB 3D structure from and Proteopedia for DEFB106B:
2LWL (3D)    
Secondary accessions: Q2NKR0 Q496I8

Explore the universe of human proteins at neXtProt for DEFB106B: NX_Q8N104

Explore proteomics data for DEFB106B at MOPED


See DEFB106B Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_001035794.1  
ENSEMBL proteins: 
 ENSP00000334364  
Reactome Protein details: Q8N104

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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 Q8N104

ProtoNet protein and cluster: Q8N104

UniProtKB/Swiss-Prot: D106A_HUMAN, Q8N104
Similarity: Belongs to the beta-defensin family


DEFB106B for domains           About GeneDecksing


(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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

     UniProtKB/Swiss-Prot Summary: D106A_HUMAN, Q8N104
Function: Has antibacterial activity

Animal Models:

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hsa-mir-335-5p (MIRT018026)

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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
D106A_HUMAN, Q8N104: 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 IEA--

DEFB106B for ontologies           About GeneDecksing


(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 DEFB106B About    
See pathways by source

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

Pathways by source                                                                                                                                                                 See SuperPaths
Show all pathways



2 Reactome Pathways for DEFB106B
    Defensins
Beta defensins



DEFB106B for pathways           About GeneDecksing

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Interactions:

    Search GeneGlobe Interaction Network for DEFB106B

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

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

DEFB106B for ontologies           About GeneDecksing



(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 Tocris compounds for DEFB106B (D106A)



(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, Primers from OriGene, and/or QIAGEN )
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REFSEQ mRNAs for DEFB106B gene: 
NM_001040704.1  

Unigene Clusters for DEFB106B:

Defensin, beta 106B
Hs.511958  [show with all ESTs], Hs.535925  [show with all ESTs]
Unigene Representative Sequences: NM_001040704, AY122466
1 Ensembl transcript including schematic representation, and UCSC links where relevant:
ENST00000335479(uc003wro.1)
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Additional mRNA sequence: 

AB089181.1 AF529417.1 AF540978.1 AY122466.1 BC100844.2 BC100845.2 BC100846.2 BC100847.2 
BC110062.1 BC111688.1 

2 DOTS entries:

DT.100018508  DT.121491104 

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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DEFB106B expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: CAAGAACAAT
DEFB106B Expression
About this image

DEFB106B Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

DEFB106B Protein Expression

SOURCE GeneReport for Unigene clusters: Hs.511958 Hs.535925

UniProtKB/Swiss-Prot: D106A_HUMAN, Q8N104
Tissue specificity: Expressed specifically in epididymis and lung

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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 mouse.

Orthologs for DEFB106B gene from Selected species (see all 2)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Defb155 defensin beta 15   --   8 (10.64 cM) 21929799 


ENSEMBL Gene Tree for DEFB106B (if available)
TreeFam Gene Tree for DEFB106B (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for DEFB106B gene
DEFB106A1 2  
7 SIMAP similar genes for DEFB106B using alignment to 1 protein entry:     D106A_HUMAN:
DEFB109P1    DEFB109P1B    DEFB108B    DEFB108P1    DEFB108P2    DEFB135
DEFB134

DEFB106B for paralogs           About GeneDecksing



(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 DEFB106B (see all 58)    About this table    
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 8 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1819386371,2
--7339536(+) AGGGGA/GGAGGG 1 -- ds50010--------
rs1865864591,2
--7339681(+) AAAAAC/GAAAAA 1 -- ds50010--------
rs1924830761,2
--7339688(+) AAAAGA/TAAAAA 1 -- ds50010--------
rs2010407151,2
C--7339715(+) TTTGTA/GTTAAA 1 -- ds50010--------
rs2003000001,2
--7339718(+) GTATT-/AAAAAA 1 -- ds50010--------
rs3705875391,2
C--7339844(+) CTGAGC/TCAAGC 1 -- ds50010--------
rs26805451,2
C--7339900(+) AAAATT/ATCAGA 1 -- ds50011Minor allele frequency- A:0.00NA 2
rs743868921,2
C--7339918(+) GGGACG/AATTTG 1 -- ds50011Minor allele frequency- A:0.50NA 2
rs796721731,2
C--7339923(+) GATTTG/ATCTAC 1 -- ds50011Minor allele frequency- A:0.50NA 2
rs2019821751,2
F--7340089(+) GCTAGG/ATTATG 1 -- ut311Minor allele frequency- A:0.01EU 457

HapMap Linkage Disequilibrium report for DEFB106B (7340026 - 7343922 bp)

Structural Variations
     Database of Genomic Variants (DGV) Selected variations for DEFB106B (see all 68):    About this table    
Variant IDTypeSubtypePubMed ID
esv2736558CNV Deletion23290073
dgv26n31CNV Duplication19718026
dgv25n31CNV Duplication19718026
nsv890270CNV Loss21882294
dgv7664n71CNV Loss21882294
nsv508496CNV Loss20534489
dgv7680n71CNV Loss21882294
dgv1170n67CNV Loss20364138
dgv7663n71CNV Loss21882294
nsv890153CNV Loss21882294

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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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1 disease for DEFB106B:    
About MalaCards
intestinal neoplasm


DEFB106B for disorders           About GeneDecksing


Export disorders for DEFB106B 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 DEFB106B gene integrated from 10 sources:
(articles sorted by number of sources associating them with DEFB106B)
    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 Semple C.A.M.... Dorin J.R. (Genome Biol. 2003)
  2. Identification of multiple novel epididymis-specific beta-defensin isoforms in humans and mice. (PubMed id 12193721)1, 2 Yamaguchi Y.... Ouchi Y. (J. Immunol. 2002)
  3. Discovery of five conserved beta-defensin gene clusters using a computational search strategy. (PubMed id 11854508)1, 2 Schutte B.C.... McCray P.B. Jr. (Proc. Natl. Acad. Sci. U.S.A. 2002)
  4. 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. (Physiol. Genomics 2005)
  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. ORFeome-based search of airway epithelial cell-specific novel human beta-defensin genes. (PubMed id 12600824)2 Kao C.Y.... Wu R. (Am. J. Respir. Cell Mol. Biol. 2003)
  9. 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)

(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: 503841 HGNC: 28879 Ensembl:ENSG00000187082 euGenes: HUgn503841 ECgene: DEFB106B
H-InvDB: DEFB106B

(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 DEFB106B 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 DEFB106B gene:
Search GeneIP for patents involving DEFB106B

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, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014

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