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DEFB108B Gene

protein-coding   GIFtS: 44
GCID: GC11P071545

Defensin, Beta 108B

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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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This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Defensin, Beta 108B1 2 3     Defensin, Beta 108, Pseudogene 12
Beta-Defensin 82 3     Defensin, Beta 82
BD-82 3     DEFB1083
DEFB-82 3     DEFB83
hBD-82 3     Defensin, Beta 1083
Beta-Defensin 108B2     

External Ids:    HGNC: 299661   Entrez Gene: 2459112   Ensembl: ENSG000001842767   UniProtKB: Q8NET13   
ORGUL members:         

Export aliases for DEFB108B gene to outside databases

Previous GC identifers: GC11P071222 GC11U900687 GC11P067838


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for DEFB108B Gene:
DEFB108B (defensin, beta 108B) is a protein-coding gene.

UniProtKB/Swiss-Prot: D108B_HUMAN, Q8NET1
Function: Has antibacterial activity (By similarity)




(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_000011.9  NC_018922.2  NT_167190.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the DEFB108B gene promoter:
         MEF-2A   POU2F1   POU2F1a   MEF-2   aMEF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidDEFB108B promoter sequence
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Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat DEFB108B


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 11q13.4   Ensembl cytogenetic band:  11q13.4   HGNC cytogenetic band: 11q13.4

DEFB108B Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DEFB108B gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11P071545:  view genomic region     (about GC identifiers)

Start:
71,544,246 bp from pter      End:
71,548,756 bp from pter
Size:
4,511 bases      Orientation:
plus 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: D108B_HUMAN, Q8NET1 (See protein sequence)
Recommended Name: Beta-defensin 108B precursor  
Size: 73 amino acids; 8326 Da

Explore the universe of human proteins at neXtProt for DEFB108B: NX_Q8NET1

Explore proteomics data for DEFB108B at MOPED


See DEFB108B Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_001002035.1  
ENSEMBL proteins: 
 ENSP00000333234  
Reactome Protein details: Q8NET1

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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 Q8NET1

ProtoNet protein and cluster: Q8NET1

1 Blocks protein domain: IPB001855 Beta defensin

UniProtKB/Swiss-Prot: D108B_HUMAN, Q8NET1
Similarity: Belongs to the beta-defensin family


Find genes that share domains with DEFB108B           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: D108B_HUMAN, Q8NET1
Function: Has antibacterial activity (By similarity)

Animal Models:

   genOway: Develop your customized and physiologically relevant rodent model for DEFB108B

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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
D108B_HUMAN, Q8NET1: Secreted
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
extracellular5
cytosol1
nucleus1

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

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

Find genes that share ontologies with DEFB108B           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 DEFB108B About    
See pathways by source

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


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Pathways by source                                                                                                                                                                 See SuperPaths
Show all pathways


2 Reactome Pathways for DEFB108B
    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 IEA--

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(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 DEFB108B (D108B)



(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 DEFB108B gene: 
NM_001002035.1  

Unigene Cluster for DEFB108B:

Defensin, beta 108B
Hs.555032  [show with all ESTs]
Unigene Representative Sequence: BX095678
2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000328698(uc010rqr.2) ENST00000529157
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Additional mRNA sequence: 

AF529416.1 AY122468.1 

2 DOTS entries:

DT.120742659  DT.40119221 

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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DEFB108B expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: TTGGGAGATG
DEFB108B Expression
About this image

DEFB108B Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

DEFB108B Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.555032

UniProtKB/Swiss-Prot: D108B_HUMAN, Q8NET1
Tissue specificity: Specifically expressed in testis. Low expression is detected also in liver

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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 DEFB108B gene from 1 species (see representative species )    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
chimpanzee
(Pan troglodytes)
Mammalia DEFB108B1 defensin, beta 108B 84.8(n)
79.41(a)
  748239  XM_001160287.1  XP_001160287.1 


ENSEMBL Gene Tree for DEFB108B (if available)
TreeFam Gene Tree for DEFB108B (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for DEFB108B gene
8 SIMAP similar genes for DEFB108B using alignment to 1 protein entry:     D108B_HUMAN:
DEFB108P1    DEFB108P2    DEFB124    DEFB106A    DEFB106B    DEFB110
DEFB104A    DEFB104B

Find genes that share paralogs with DEFB108B           About GenesLikeMe


5 Pseudogenes.org Pseudogenes for DEFB108B
PGOHUM00000250753 PGOHUM00000258324 PGOHUM00000249235 PGOHUM00000249240 PGOHUM00000258354


(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 DEFB108B (see all 208)    About this table                                 

Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 11 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1509942491,2
--71542246(+) GCCTGA/CCTTGG 1 -- us2k10--------
rs128006721,2
C--71542264(+) aagtgC/Tcaaga 1 -- us2k11Minor allele frequency- T:0.50NA 2
rs755677701,2
C--71542352(+) GAGGAG/ACCCCT 1 -- us2k13Minor allele frequency- A:0.25NA CSA 4
rs1926480091,2
--71542488(+) ACCCCA/GTCTGG 1 -- us2k10--------
rs1842953951,2
C--71542495(+) CTGGCA/GTGTGA 1 -- us2k10--------
rs283781751,2
C--71542598(+) ACCCAG/TCCAGC 1 -- us2k10--------
rs1816066681,2
--71542606(+) AGCCTC/TCCCGT 1 -- us2k10--------
rs1120165931,2
C--71542662(+) CCAGCA/CGCCCC 1 -- us2k10--------
rs1901979491,2
--71542690(+) GGGGCC/TGCCTC 1 -- us2k10--------
rs1823212321,2
--71542865(+) AAGGGA/GGAAAT 1 -- us2k10--------

HapMap Linkage Disequilibrium report for DEFB108B (71544246 - 71548756 bp)

Structural Variations
     Database of Genomic Variants (DGV) 8 variations for DEFB108B:    About this table    
Variant IDTypeSubtypePubMed ID
esv2744758CNV Deletion23290073
dgv223e199CNV Deletion23128226
dgv1220n71CNV Loss21882294
esv25167CNV Gain19812545
dgv1219n71CNV Gain21882294
nsv428262CNV Gain+Loss18775914
nsv8837CNV Gain+Loss18304495
dgv396e1CNV Complex17122850

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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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Find genes that share disorders with DEFB108B           About GenesLikeMe

Genetic Association Database (GAD): DEFB108B
Human Genome Epidemiology (HuGE) Navigator: DEFB108B (1 document)

Export disorders for DEFB108B 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 DEFB108B gene integrated from 10 sources:
(articles sorted by number of sources associating them with DEFB108B)
    Utopia: connect your pdf to the dynamic
world of online information

  1. 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)
  2. ORFeome-based search of airway epithelial cell-specific novel human beta-defensin genes. (PubMed id 12600824)1, 2 Kao C.Y.... Wu R. (Am. J. Respir. Cell Mol. Biol. 2003)
  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. 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)

(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: 245911 HGNC: 29966 Ensembl:ENSG00000184276 euGenes: HUgn245911 ECgene: DEFB108B
H-InvDB: DEFB108B

(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 DEFB108B 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 DEFB108B gene:
Search GeneIP for patents involving DEFB108B

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, eBioscience, antibodies-online, 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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 Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DEFB108B
 Browse compounds at ApexBio
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 genOway: Develop your customized and physiologically relevant rodent model for DEFB108B
 antibodies-online antibodies for DEFB108B
 antibodies-online kits for DEFB108B (4 products)
  Search antibodies-online for peptides for DEFB108B
 antibodies-online proteins for DEFB108B (2 products)
       
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