DEFB126 Gene
protein-coding GIFtS: 45
GCID: GC20P000071
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|
defensin, beta 126(Previous name: chromosome 20 open reading frame 8 )
(Previous symbol: C20orf8)
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Aliases
for DEFB126 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Defensin, Beta 1261 2 3 | | ESP13.22 3 | | C20orf81 2 3 | | Chromosome 20 Open Reading Frame 81 | | DEFB-261 2 3 | | Beta Defensin 262 | | BA530N10.11 | | Beta-Defensin 1262 | | Beta-Defensin 262 3 | | Epididymal Secretory Protein ESP13.22 | | Epididymal Secretory Protein 13.22 3 | | HBD-261 | | DEFB262 3 | | |
Export aliases for DEFB126 gene to outside databasesPrevious GC identifers: GC20P000111 GC20P000118 |
Summaries
for DEFB126 gene(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:
Defensins are cysteine-rich cationic polypeptides that are important in the immunologic response to invadingmicroorganisms. The protein encoded by this gene is secreted and is a member of the beta defensin protein family. Betadefensin genes are found in several clusters throughout the genome, with this gene mapping to a cluster at 20p13. Theencoded protein is highly similar to an epididymal-specific secretory protein (ESP13.2) from cynomolgus monkey.(provided by RefSeq, Jul 2008)
UniProtKB/Swiss-Prot: DB126_HUMAN, Q9BYW3Function: Has antibacterial activity (Potential)
Gene Wiki entry for DEFB126
|
Genomic Views
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 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000020.10 NC_018931.1 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
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: 20p13DEFB126 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 20 GeneLoc Exon Structure GeneLoc location for GC20P000071: view genomic region
(about GC identifiers)
Start:
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123,010 bp from pter |
End:
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126,392 bp from pter |
Size:
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3,383 bases |
Orientation:
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plus strand |
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Proteins
for DEFB126 gene
(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: DB126_HUMAN, Q9BYW3 (See
protein sequence)Recommended Name: Beta-defensin 126 precursor Size: 111 amino acids; 12174 Da
Subcellular location: Secreted
Secondary accessions: Q562G3 Q9H1M5Explore the universe of human proteins at neXtProt for DEFB126: NX_Q9BYW3
DEFB126 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_112193.1
ENSEMBL proteins: ENSP00000371835 Reactome Protein details: Q9BYW3
Human Recombinant Protein Products for DEFB126:
Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view): About this table
DEFB126 for ontologies About GeneDecksing
DEFB126 Antibody Products:
Assay Products for DEFB126: |
Protein
Domains /
Families
for DEFB126 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
DEFB126 for domains About GeneDecksing
2 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry Q9BYW3ProtoNet protein and cluster: Q9BYW3 UniProtKB/Swiss-Prot: DB126_HUMAN, Q9BYW3Similarity: Belongs to the beta-defensin family |
Function
for DEFB126 gene
(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: DB126_HUMAN, Q9BYW3Function: Has antibacterial activity (Potential)Phenotypes:
5 GenomeRNAi human phenotypes for DEFB126:
Animal Models:
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for DEFB126 (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for DEFB126
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
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Synthesis Service for DEFB126 | |  | Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat DEFB126 |
|
Pathways & Interactions
for DEFB126 gene
(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-pathway | contained gene-specific pathways |
|---|
| 1 | Beta defensins | | | 2 | Immune System | |
Pathway sources
See GeneCards unified pathways
Show all pathways
5/6 
Reactome Pathways for DEFB126 (see all 6)
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 ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0042742 | defense response to bacterium |
IEA | -- |
DEFB126 for ontologies About GeneDecksing
|
Drugs & Compounds
for DEFB126 gene(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 Tocris compounds for DEFB126
Search CenterWatch for drugs/clinical trials and news about DEFB126 / DB126
|
Transcripts
for DEFB126 gene(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,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
Sirion Biotech,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for DEFB126 gene: NM_030931.2 Unigene Cluster for DEFB126: Defensin, beta 126 Hs.124211 [show with all ESTs]Unigene Representative Sequence: BX1083072 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000382398(uc002wcx.3) ENST00000542572
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for DEFB126 (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for DEFB126
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: DEFB126 (NM_030931) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for DEFB126 | | | Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat DEFB126 |
Additional cDNA sequence: AF525928.1 AJ236910.1 AK225987.1 AY122478.1 1 DOTS entry: DT.409079 13 AceView cDNA sequences: AA453384 NM_030931 AF525928 AY122478 AA992965 AJ236910 BX108307 AA400538 AA846419 AA994981 AA400429 AI015471 BC069294
GeneLoc Exon Structure
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Expression
for DEFB126 gene
(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
CGAP TAG: TAAAGAATGG
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, Q9BYW3Tissue specificity: High-level and epididymis-specific expression
SABiosciences Custom PCR Arrays for DEFB126
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for DEFB126
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse / rat DEFB126 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat DEFB126 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat DEFB126 |
Orthologs
for DEFB126 gene
(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 1/2 species (see all 2) 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
for DEFB126 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| -- |
Genomic Variants
for DEFB126 gene(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
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 20 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for DEFB126 (123010 - 126392 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 2 variations for DEFB126
2 CNVs: 9313 2249
Human Gene Mutation Database (HGMD): DEFB126
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing DEFB126 |
|
Disorders
/ Diseases
for DEFB126 gene
(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
|
DEFB126 for disorders About GeneDecksing
3  diseases for DEFB126: About MalaCardsepididymitis meningioma leukemia
Human Genome Epidemiology (HuGE) Navigator: DEFB126 (4 documents)
Export disorders for DEFB126 gene to outside databases
|
Publications
for DEFB126 gene (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 14):
(articles sorted by number of sources associating them with DEFB126) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- 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)
- The novel epididymal secretory protein ESP13.2 in Macaca fascicularis. (PubMed id 10491631)1, 2, 9 Perry A.C.F.... Hall L. (1999)
- 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)
- The DNA sequence and comparative analysis of human chromosome 20. (PubMed id 11780052)1, 2 Deloukas P....Rogers J. (2001)
- 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)
- Polymorphisms in innate immunity genes and risk of ch ildhood leukemia. (PubMed id 20438785)1 Han S....Kang D. (2010)
- Risk of meningioma and common variation in genes rela ted to innate immunity. (PubMed id 20406964)1 Rajaraman P....Inskip P.D. (2010)
- Common variation in genes related to innate immunity and risk of adult glioma. (PubMed id 19423540)1 Rajaraman P....Chanock S.J. (2009)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1 Gerhard D.S....Malek J. (2004)
- 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. (2002)
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External Searches for DEFB126 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing DEFB126 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing DEFB126 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing DEFB126 gene(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
|
| Name | Description |
| PharmGKB entry for DEFB126 | Pharmacogenomics, SNPs, Pathways |
|
| | |
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
|
Products
for DEFB126 gene(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
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory)
About This Section
|
 | |
 | |
 |
| | |  | Browse OriGene Antibodies | | OriGene shRNA RFP for DEFB126 | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for DEFB126 | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for DEFB126 | | | OriGene Protein Over-expression Lysate for DEFB126 | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for DEFB126 | | OriGene 3'-UTR Clone for DEFB126 | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for DEFB126 | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for DEFB126 | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | Browse OriGene full length recombinant human proteins expressed in human HEK293 cells | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
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 |  |  |  | |
| | | | Search Tocris compounds for DEFB126 |
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 | | | | |  |  |  |  | | | | Search ThermoFisher Antibodies for DEFB126 |
| | | Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat DEFB126 |
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