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

DEFB126 Gene

protein-coding   GIFtS: 45
GCID: GC20P000071

Defensin, Beta 126

(Previous name: chromosome 20 open reading frame 8)
(Previous symbol: C20orf8)
Microbiology & Infectious Diseases Congress
  See 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)
About This Section

Aliases
Defensin, Beta 1261 2 3     Beta-Defensin 1262
C20orf81 2 3     Epididymal Secretory Protein ESP13.22
DEFB-262 3     hBD-262
DEFB262 3     ESP13.23
Chromosome 20 Open Reading Frame 81     Beta-Defensin 263
bA530N10.12     Epididymal Secretory Protein 13.23

External Ids:    HGNC: 159001   Entrez Gene: 816232   Ensembl: ENSG000001257887   UniProtKB: Q9BYW33   

Export aliases for DEFB126 gene to outside databases

Previous GC identifers: GC20P000111 GC20P000118


(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 DEFB126 Gene:
Defensins are cysteine-rich cationic polypeptides that are important in the immunologic response to invading
microorganisms. The protein encoded by this gene is secreted and is a member of the beta defensin protein family.
Beta defensin genes are found in several clusters throughout the genome, with this gene mapping to a cluster at
20p13. The encoded protein is highly similar to an epididymal-specific secretory protein (ESP13.2) from
cynomolgus monkey. Mutation of this gene is associated with impaired sperm function. (provided by RefSeq, Jul
2013)

GeneCards Summary for DEFB126 Gene: 
DEFB126 (defensin, beta 126) is a protein-coding gene. Diseases associated with DEFB126 include epididymitis, and meningioma, and among its related super-pathways are Defensins and Immune System.

UniProtKB/Swiss-Prot: DB126_HUMAN, Q9BYW3
Function: Has antibacterial activity (Potential)

Gene Wiki entry for DEFB126 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000020.10  NC_018931.2  NT_011387.8  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the DEFB126 gene promoter:
         POU2F2 (Oct-2.1)   oct-B2   oct-B3   p53   POU2F2   Evi-1   POU2F2C   POU2F1   POU2F1a   POU2F2B   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidDEFB126 promoter sequence
   Search SABiosciences Chromatin IP Primers for DEFB126

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DEFB126


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

Entrez Gene cytogenetic band: 20p13   Ensembl cytogenetic band:  20p13   HGNC cytogenetic band: 20p13

DEFB126 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DEFB126 gene location

GeneLoc information about chromosome 20         GeneLoc Exon Structure

GeneLoc location for GC20P000071:  view genomic region     (about GC identifiers)

Start:
123,010 bp from pter      End:
126,392 bp from pter
Size:
3,383 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: DB126_HUMAN, Q9BYW3 (See protein sequence)
Recommended Name: Beta-defensin 126 precursor  
Size: 111 amino acids; 12174 Da
Subcellular location: Secreted
Secondary accessions: Q562G3 Q9H1M5

Explore the universe of human proteins at neXtProt for DEFB126: NX_Q9BYW3

Explore proteomics data for DEFB126 at MOPED 

DEFB126 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

DEFB126 Protein Expression

REFSEQ proteins: NP_112193.1  
ENSEMBL proteins: 
 ENSP00000371835  
Reactome Protein details: Q9BYW3
Human Recombinant Protein Products for DEFB126: 
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Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005576extracellular region IEA--
GO:0009986cell surface IEA--
GO:0030112glycocalyx IEA--

DEFB126 for ontologies           About GeneDecksing



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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section
HGNC Gene Families: 
DEFB: Defensins, beta

2 InterPro protein domains:
 IPR025933 Beta_defensin
 IPR020329 Beta_defensin_126

Graphical View of Domain Structure for InterPro Entry Q9BYW3

ProtoNet protein and cluster: Q9BYW3

UniProtKB/Swiss-Prot: DB126_HUMAN, Q9BYW3
Similarity: Belongs to the beta-defensin family


DEFB126 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,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, 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, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
About This Section

Molecular Function:

     UniProtKB/Swiss-Prot Summary: DB126_HUMAN, Q9BYW3
Function: Has antibacterial activity (Potential)

Phenotypes:
     5 GenomeRNAi human phenotypes for DEFB126:

 Cell cycle / mitosis defect  Decreased NANOG protein expres  Decreased OCT4 protein express  Decreased POU5F1-GFP protein e 
 Decreased viability with pacli 

Animal Models:
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(Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
About This Section

SuperPaths for DEFB126 About                                                                                                See pathways by source

SuperPathContained pathways About
1Beta defensins
Defensins0.80
Beta defensins0.80
2Immune System
Immune System0.56
Innate Immune System0.50

Pathways by source                                                                                                                                                                 See SuperPaths
Show all pathways


4        Reactome Pathways for DEFB126
    Defensins
Beta defensins
Immune System
Innate Immune System



DEFB126 for pathways           About GeneDecksing

Interactions:

    Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for DEFB126

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 IEA--

DEFB126 for ontologies           About GeneDecksing



(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, 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
Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for DEFB126 (DB126)

Search CenterWatch for drugs/clinical trials and news about DEFB126 / DB126

(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,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
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Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for DEFB126 gene: 
NM_030931.3  

Unigene Cluster for DEFB126:

Defensin, beta 126
Hs.124211  [show with all ESTs]
Unigene Representative Sequence: BX108307
2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000382398(uc002wcx.3) ENST00000542572
Congresses - knowledge worth sharing:  
European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

miRNA
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Clone
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Additional mRNA sequence: 

AF525928.1 AJ236910.1 AK225987.1 AY122478.1 

1 DOTS entry:

DT.409079 

13 AceView cDNA sequences:

NM_030931 AY122478 AA453384 AF525928 AA992965 BX108307 AA400538 AJ236910 
AA400429 AI015471 AA994981 AA846419 BC069294 

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

DEFB126 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: TAAAGAATGG
DEFB126 Expression
About this image


See DEFB126 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for DEFB126

SOURCE GeneReport for Unigene cluster: Hs.124211

UniProtKB/Swiss-Prot: DB126_HUMAN, Q9BYW3
Tissue specificity: High-level and epididymis-specific expression

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In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DEFB126

(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

This gene was present in the common ancestor of human and mouse.

Orthologs for DEFB126 gene from 1/3 species (see all 3)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Defb225 defensin beta 22   --   2 (75.13 cM) 152485663 


ENSEMBL Gene Tree for DEFB126 (if available)
TreeFam Gene Tree for DEFB126 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
Paralogs for DEFB126 gene
2 SIMAP similar genes for DEFB126 using alignment to 1 protein entry:     DB126_HUMAN:
DEFB115    DEFB118

DEFB126 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) 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

10/164 SNPs in DEFB126 are shown (see all 164)    About this table     
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 20 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1899942101,2
--121288(+) TCTGCA/GCTTGT 1 -- us2k10--------
rs60539831,2
C,F,A,H--121310(+) tataaA/Caaaat 1 -- us2k1 tfbs39Minor allele frequency- C:0.23WA NA CSA EA 370
rs1506702111,2
C--121470(+) AATTTG/TGTAAT 1 -- us2k10--------
rs61171521,2
C,F,A,H--121478(+) aatttC/AGtttt 1 -- us2k15Minor allele frequency- A:0.39NA WA 244
rs1503619021,2
C--121498(+) CTTTT-/CTCTTTTT 1 -- us2k10--------
rs114786151,2
C,F--121520(+) TTTTT-/G/TGCATG 1 -- us2k1 trp32NA 4
rs1926901261,2
--121543(+) ATTTAC/TAGTAA 1 -- us2k10--------
rs611324781,2
C,F--121609(+) AGTTTG/CACAAG 1 -- us2k11Minor allele frequency- C:0.50WA 2
rs757500151,2
F--121823(+) AGCTAA/GCATCT 1 -- us2k11Minor allele frequency- G:0.06WA 118
rs60384021,2
C,F,A--121824(+) GCTAAC/TATCTG 1 -- us2k19Minor allele frequency- T:0.33NA WA CSA EA 369

HapMap Linkage Disequilibrium report for DEFB126 (123010 - 126392 bp)

Structural Variations
     Database of Genomic Variants (DGV) 10 variations for DEFB126:    About this table     
Variant IDTypeSubtypePubMed ID
nsv527749CNV Loss19592680
esv2751910CNV Loss17911159
nsv510776CNV Loss20534489
nsv469544CNV Loss16826518
dgv65n68CNV Loss17160897
nsv520277CNV Loss19592680
dgv4506n71CNV Gain21882294
dgv4505n71CNV Gain21882294
nsv912554CNV Gain21882294
dgv4507n71CNV Gain21882294


Human Gene Mutation Database (HGMD): DEFB126
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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section
3 diseases for DEFB126:    About MalaCards
epididymitis    meningioma    leukemia


DEFB126 for disorders           About GeneDecksing

Genetic Association Database (GAD): DEFB126
Human Genome Epidemiology (HuGE) Navigator: DEFB126 (4 documents)

Export disorders for DEFB126 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 DEFB126 gene, integrated from 9 sources (see all 16):
(articles sorted by number of sources associating them with DEFB126)
    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. (2002)
  2. The novel epididymal secretory protein ESP13.2 in Macaca fascicularis. (PubMed id 10491631)1, 2, 9 Perry A.C.F.... Hall L. (1999)
  3. Polymorphisms in innate immunity genes and risk of ch ildhood leukemia. (PubMed id 20438785)1, 4 Han S....Kang D. (2010)
  4. Risk of meningioma and common variation in genes rela ted to innate immunity. (PubMed id 20406964)1, 4 Rajaraman P....Inskip P.D. (2010)
  5. Distribution of new human beta-defensin genes clustered on chromosome 20 in functionally different segments of epididymis. (PubMed id 12620395)1, 2 Rodriguez-Jimenez F.-J.... Motzkus D. (2003)
  6. The DNA sequence and comparative analysis of human chromosome 20. (PubMed id 11780052)1, 2 Deloukas P....Rogers J. (2001)
  7. Human beta-defensin DEFB126 is capable of inhibiting L PS-mediated inflammation. (PubMed id 23229569)1 Liu H....Lin D. (2013)
  8. Multifunctional glycoprotein DEFB126--a curious story of defensin-clad spermatozoa. (PubMed id 22710670)1 Tollner T.L....Cherr G.N. (2012)
  9. A common mutation in the defensin DEFB126 causes impa ired sperm function and subfertility. (PubMed id 21775668)1 Tollner T.L....Cherr G.N. (2011)
  10. Common variation in genes related to innate immunity and risk of adult glioma. (PubMed id 19423540)1 Rajaraman P....Chanock S.J. (2009)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section
 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)
About This Section
Entrez Gene: 81623 HGNC: 15900 AceView: DEFB126 Ensembl:ENSG00000125788 euGenes: HUgn81623
ECgene: DEFB126 H-InvDB: DEFB126

(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 DEFB126 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 DEFB126 gene:
Search GeneIP for patents involving DEFB126

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, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
About This Section

 
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GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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