DEFB129 Gene
protein-coding GIFtS: 40
GCID: GC20P000155
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defensin, beta 129(Previous name: chromosome 20 open reading frame 87 )
(Previous symbol: C20orf87)
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Aliases
for DEFB129 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 1291 2 3 | | DEFB292 3 | | C20orf871 2 3 | | Chromosome 20 Open Reading Frame 871 | | DEFB-291 2 3 | | Beta Defensin 292 | | BA530N10.31 | | Beta-Defensin 1292 | | Beta-Defensin 292 3 | | HBD-291 |
Export aliases for DEFB129 gene to outside databasesPrevious GC identifers: GC20P000195 GC20P000202 |
Summaries
for DEFB129 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 DEFB129:
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.(provided by RefSeq, Jul 2008)
UniProtKB/Swiss-Prot: DB129_HUMAN, Q9H1M3Function: Has antibacterial activity (Potential)
Gene Wiki entry for DEFB129
|
Genomic Views
for DEFB129 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 DEFB129 gene promoter:
TBP SRF (504 AA) NF-AT NF-AT4 Nkx6-1 NF-AT2 FOXJ2 (long isoform) NF-AT3 FOXJ2 NF-AT1
Other transcription factors
Search SABiosciences Chromatin IP Primers for DEFB129
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DEFB129 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 20p13 Ensembl cytogenetic band: 20p13 HGNC cytogenetic band: 20p13DEFB129 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 GC20P000155: view genomic region
(about GC identifiers)
Start:
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207,899 bp from pter |
End:
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210,527 bp from pter |
Size:
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2,629 bases |
Orientation:
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plus strand |
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Proteins
for DEFB129 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: DB129_HUMAN, Q9H1M3 (See
protein sequence)Recommended Name: Beta-defensin 129 precursor Size: 183 amino acids; 20299 Da
Subcellular location: Secreted (Potential)
Secondary accessions: Q8NES7Explore the universe of human proteins at neXtProt for DEFB129: NX_Q9H1M3
DEFB129 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_543021.1
ENSEMBL proteins: ENSP00000246105 Reactome Protein details: Q9H1M3
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 | -- |
DEFB129 for ontologies About GeneDecksing
DEFB129 Antibody Products:
Assay Products for DEFB129: |
Protein
Domains /
Families
for DEFB129 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
DEFB129 for domains About GeneDecksing
2 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry Q9H1M3ProtoNet protein and cluster: Q9H1M3 UniProtKB/Swiss-Prot: DB129_HUMAN, Q9H1M3Similarity: Belongs to the beta-defensin family |
Function
for DEFB129 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: DB129_HUMAN, Q9H1M3Function: 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 DEFB129 (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for DEFB129
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: DEFB129 (NM_080831) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for DEFB129 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DEFB129 |
|
Pathways & Interactions
for DEFB129 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 DEFB129 (see all 6)
DEFB129 for pathways About GeneDecksing
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for DEFB129
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 | -- |
DEFB129 for ontologies About GeneDecksing
|
Drugs & Compounds
for DEFB129 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 DEFB129
Search CenterWatch for drugs/clinical trials and news about DEFB129 / DB129
|
Transcripts
for DEFB129 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 DEFB129 gene: NM_080831.3 Unigene Cluster for DEFB129: Defensin, beta 129 Hs.112087 [show with all ESTs]Unigene Representative Sequence: BC0703591 Ensembl transcript including schematic representation, and UCSC links where relevant: ENST00000246105(uc002wda.3)
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for DEFB129 (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for DEFB129
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: DEFB129 (NM_080831) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for DEFB129 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DEFB129 |
Additional cDNA sequence: AF525931.1 AF529413.1 AY122480.1 AY358186.1 BC070359.1 1 DOTS entry: DT.408588 13 AceView cDNA sequences: AF525931 NM_080831 AF529413 AY122480 AY358186 AI217663 BX089881 BC070359 AA884279 AA446332 AA927149 AA399988 AA401404
GeneLoc Exon Structure
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Expression
for DEFB129 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
| DEFB129 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: AAGCTCCTTT
About this image
See DEFB129 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for DEFB129
SOURCE GeneReport for Unigene cluster: Hs.112087
UniProtKB/Swiss-Prot: DB129_HUMAN, Q9H1M3Tissue specificity: Expressed specifically in testis
SABiosciences Custom PCR Arrays for DEFB129
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for DEFB129
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat DEFB129 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat DEFB129 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat DEFB129 |
Orthologs
for DEFB129 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 DEFB129 gene from 1/4 species (see all 4) About this table
ENSEMBL Gene Tree for DEFB129 (if available)
TreeFam Gene Tree for DEFB129 (if available) |
Paralogs
for DEFB129 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| -- |
Genomic Variants
for DEFB129 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 DEFB129 (207899 - 210527 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 2 variations for DEFB129
2 CNVs: 9313 2249 | SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing DEFB129 |
|
Disorders
/ Diseases
for DEFB129 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
|
DEFB129 for disorders About GeneDecksing
1  disease for DEFB129: About MalaCardstuberculosis
Export disorders for DEFB129 gene to outside databases
|
Publications
for DEFB129 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 DEFB129 gene integrated from 9 sources:
(articles sorted by number of sources associating them with DEFB129) | |  | 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 status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
- ORFeome-based search of airway epithelial cell-specific novel human [beta]-defensin genes. (PubMed id 12600824)1, 2 Kao C.Y....Wu R. (2003)
- The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PubMed id 12975309)1, 2 Clark H.F.... Gray A.M. (2003)
- 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)
- hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PubMed id 17207965)1 Lamesch P.... Vidal M. (2007)
- 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 DEFB129 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
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Genome Databases showing DEFB129 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing DEFB129 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing DEFB129 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 DEFB129 | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for DEFB129 gene:
Search GeneIP for patents involving DEFB129
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for DEFB129 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
|
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 | |
 |
| | |  | Browse OriGene Antibodies | | OriGene shRNA RFP for DEFB129 | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for DEFB129 | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for DEFB129 | | | OriGene Protein Over-expression Lysate for DEFB129 | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for DEFB129 | | Browse 3'-UTR reporter clones for miRNA target validation | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for DEFB129 | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for DEFB129 | | | 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,
variant library, vector shuttling | | | OriGene Custom Antibody Services for DEFB129 | | OriGene Custom Protein Services for DEFB129 | | | OriGene Custom Immunoassay Development | | |
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat DEFB129 | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing DEFB129 | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DEFB129 | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat DEFB129 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat DEFB129 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat DEFB129 |
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| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DEFB129 |
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