DEFB125 Gene
protein-coding GIFtS: 41
GCID: GC20P000016
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defensin, beta 125
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Aliases
for DEFB125 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 1251 2 3 | | DEFB-251 2 3 | | Beta-Defensin 252 3 | | Beta Defensin 252 | | Beta-Defensin 1252 | | DEFB253 |
Export aliases for DEFB125 gene to outside databasesPrevious GC identifer: GC20U990240 |
Summaries
for DEFB125 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 DEFB125:
Defensins are cysteine-rich cationic polypeptides that are important in the host 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.(provided by RefSeq, Jul 2008)
UniProtKB/Swiss-Prot: DB125_HUMAN, Q8N687Function: Has antibacterial activity (Potential)
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Genomic Views
for DEFB125 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 DEFB125 gene promoter:
Sox5 Nkx6-1 NF-kappaB2 FOXO4 NF-kappaB1 NF-kappaB En-1
Other transcription factors
Search SABiosciences Chromatin IP Primers for DEFB125
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DEFB125 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 20p13 Ensembl cytogenetic band: 20p13 HGNC cytogenetic band: 20p13DEFB125 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 GC20P000016: view genomic region
(about GC identifiers)
Start:
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68,351 bp from pter |
End:
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77,296 bp from pter |
Size:
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8,946 bases |
Orientation:
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plus strand |
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Proteins
for DEFB125 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: DB125_HUMAN, Q8N687 (See
protein sequence)Recommended Name: Beta-defensin 125 precursor Size: 156 amino acids; 17537 Da
Subcellular location: Secreted (Potential)
Secondary accessions: A1A502 Q7Z7B9Explore the universe of human proteins at neXtProt for DEFB125: NX_Q8N687
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q8N687
DEFB125 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_697020.2
ENSEMBL proteins: ENSP00000371847 Reactome Protein details: Q8N687
Human Recombinant Protein Products:
Gene Ontology (GO): 1 cellular component term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0005576 | extracellular region |
IEA | -- |
DEFB125 for ontologies About GeneDecksing
DEFB125 Antibody Products:
Assay Products for DEFB125: |
Protein
Domains /
Families
for DEFB125 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
DEFB125 for domains About GeneDecksing
1 InterPro domain/family:Graphical View of Domain Structure for InterPro Entry Q8N687ProtoNet protein and cluster: Q8N687 UniProtKB/Swiss-Prot: DB125_HUMAN, Q8N687Similarity: Belongs to the beta-defensin family |
Function
for DEFB125 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
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,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: DB125_HUMAN, Q8N687Function: Has antibacterial activity (Potential)
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 DEFB125 (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for DEFB125
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: DEFB125 (NM_153325) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for DEFB125 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DEFB125 |
1 GenomeRNAi human phenotype for DEFB125:
|
Pathways & Interactions
for DEFB125 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 DEFB125 (see all 6)
DEFB125 for pathways About GeneDecksing
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for DEFB125
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 | -- |
DEFB125 for ontologies About GeneDecksing
|
Drugs & Compounds
for DEFB125 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 DEFB125
Search CenterWatch for drugs/clinical trials and news about DEFB125 / DB125
|
Transcripts
for DEFB125 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,
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 DEFB125 gene: NM_153325.2 Unigene Cluster for DEFB125: Defensin, beta 125 Hs.380220 [show with all ESTs]Unigene Representative Sequence: NM_1533251 Ensembl transcript including schematic representation, and UCSC links where relevant: ENST00000382410(uc002wcw.3)
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for DEFB125 (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for DEFB125
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: DEFB125 (NM_153325) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for DEFB125 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DEFB125 |
Additional cDNA sequence: AF525927.1 AK311802.1 AY122477.1 BC128195.1 BC128196.1 1 DOTS entry: DT.40299986 4 AceView cDNA sequences: AY122477 AA935636 AF525927 NM_153325
GeneLoc Exon Structure
|
Expression
for DEFB125 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
| DEFB125 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: ACACCTGAGA
About this image
See DEFB125 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for DEFB125
SOURCE GeneReport for Unigene cluster: Hs.380220
SABiosciences Custom PCR Arrays for DEFB125
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for DEFB125
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse / rat DEFB125 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat DEFB125 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat DEFB125 |
Orthologs
for DEFB125 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 DEFB125 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 |
Defb265 |
defensin beta 26 |
-- |
|
2 (75.18 cM) 152507798 |
ENSEMBL Gene Tree for DEFB125 (if available)
TreeFam Gene Tree for DEFB125 (if available) |
Paralogs
for DEFB125 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| -- |
Genomic Variants
for DEFB125 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 DEFB125 (68351 - 77296 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for DEFB125
1 CNV: 9313 | SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing DEFB125 |
|
Disorders
/ Diseases
for DEFB125 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
| -- |
Publications
for DEFB125 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 DEFB125 gene integrated from 9 sources:
(articles sorted by number of sources associating them with DEFB125) | |  | 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)
- 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)
- 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)
- 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)
|
External Searches for DEFB125 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing DEFB125 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing DEFB125 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing DEFB125 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 DEFB125 | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for DEFB125 gene:
Search GeneIP for patents involving DEFB125
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for DEFB125 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, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, 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
About This Section
|
 | |
 | |
 |
| | |  | Browse OriGene Antibodies | | OriGene shRNA RFP for DEFB125 | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for DEFB125 | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for DEFB125 | | | OriGene Protein Over-expression Lysate for DEFB125 | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for DEFB125 | | Browse 3'-UTR reporter clones for miRNA target validation | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for DEFB125 | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for DEFB125 | | | 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 | | | OriGene Purified Protein for DEFB125 | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling | | | OriGene Custom Antibody Services for DEFB125 | | OriGene Custom Protein Services for DEFB125 | | | OriGene Custom Immunoassay Development | | |
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat DEFB125 | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing DEFB125 | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DEFB125 | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat DEFB125 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat DEFB125 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat DEFB125 |
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 |  |  |  | |
| | | | Search Tocris compounds for DEFB125 |
| |  |  |  |  | | | | |
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 | | | | |  |  |  | | | | Search ThermoFisher Antibodies for DEFB125 |
| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DEFB125 |
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