DEFB130 Gene
protein-coding GIFtS: 35
GCID: GC08M012168
|
|
defensin, beta 130
| |
Aliases
for DEFB130 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 1301 2 3 | | DEFB-301 2 3 | | Beta-Defensin 302 3 | | Beta-Defensin 1302 | | Defensin, Beta 302 | | DEFB303 |
Export aliases for DEFB130 gene to outside databasesPrevious GC identifers: GC00U991212 GC08U900611 GC08M012212 |
Summaries
for DEFB130 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
UniProtKB/Swiss-Prot: DB130_HUMAN, Q30KQ2Function: Has antibacterial activity (Potential)
|
Genomic Views
for DEFB130 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_000008.10 NC_018919.1 NT_167187.1
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the DEFB130 gene promoter:
RP58 Tal-1 POU3F2 (N-Oct-5a) POU3F2 (N-Oct-5b) Tal-1beta POU3F2 NF-kappaB E47 ITF-2 NF-kappaB1
Other transcription factors
Search SABiosciences Chromatin IP Primers for DEFB130
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DEFB130 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 8p23.1 Ensembl cytogenetic band: 8p23.1 HGNC cytogenetic band: 8p23.1DEFB130 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 8 GeneLoc Exon Structure GeneLoc location for GC08M012168: view genomic region
(about GC identifiers)
Start:
|
12,168,471 bp from pter |
End:
|
12,175,825 bp from pter |
Size:
|
7,355 bases |
Orientation:
|
minus strand |
1 alternative location:
| Chr8- 11,921,898-11,929,256 |
|
Proteins
for DEFB130 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: DB130_HUMAN, Q30KQ2 (See
protein sequence)Recommended Name: Beta-defensin 130 precursor Size: 79 amino acids; 8736 Da
Subcellular location: Secreted (Potential)Explore the universe of human proteins at neXtProt for DEFB130: NX_Q30KQ2
DEFB130 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_001032893.1
ENSEMBL proteins: ENSP00000382951 Reactome Protein details: Q30KQ2
Human Recombinant Protein Products for DEFB130:
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 | -- |
DEFB130 for ontologies About GeneDecksing
DEFB130 Antibody Products:
Assay Products for DEFB130: |
Protein
Domains /
Families
for DEFB130 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
DEFB130 for domains About GeneDecksing
1 InterPro domain/family:Graphical View of Domain Structure for InterPro Entry Q30KQ2ProtoNet protein and cluster: Q30KQ2 1 Blocks protein family: IPB001855 Beta defensin
UniProtKB/Swiss-Prot: DB130_HUMAN, Q30KQ2Similarity: Belongs to the beta-defensin family |
Function
for DEFB130 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: DB130_HUMAN, Q30KQ2Function: Has antibacterial activity (Potential)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 DEFB130 (see all 2)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for DEFB130
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: DEFB130 (NM_001037804) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for DEFB130 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DEFB130 |
|
Pathways & Interactions
for DEFB130 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 DEFB130 (see all 6)
DEFB130 for pathways About GeneDecksing
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for DEFB130
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 | -- |
DEFB130 for ontologies About GeneDecksing
|
Drugs & Compounds
for DEFB130 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 DEFB130
Search CenterWatch for drugs/clinical trials and news about DEFB130 / DB130
|
Transcripts
for DEFB130 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 DEFB130 gene: NM_001037804.1 Unigene Cluster for DEFB130: Defensin, beta 130 Hs.581979 Unigene Representative Sequence: DQ0120221 Ensembl transcript including schematic representation, and UCSC links where relevant: ENST00000400079(uc003wvn.1)
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for DEFB130 (see all 2)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for DEFB130
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: DEFB130 (NM_001037804) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for DEFB130 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DEFB130 |
Additional cDNA sequence: DQ012022.1 1 DOTS entry: DT.121494005
GeneLoc Exon Structure
|
Expression
for DEFB130 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
| DEFB130 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --
About this image
See DEFB130 Protein Expression from SPIRE MOPED and PaxDB
SOURCE GeneReport for Unigene cluster: Hs.581979
SABiosciences Custom PCR Arrays for DEFB130
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for DEFB130
Browse OriGene validated miRNA SYBR primer pairs
| | | Search SABiosciences RT2 qPCR
Primer Assays in human, mouse, rat DEFB130 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat DEFB130 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat DEFB130 |
Orthologs
for DEFB130 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
|
--
ENSEMBL Gene Tree for DEFB130 (if available)
TreeFam Gene Tree for DEFB130 (if available) |
Paralogs
for DEFB130 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for DEFB130 gene
- LOC1001332671 2
4 SIMAP similar genes for DEFB130 using alignment to 1 protein entry: DB130_HUMAN:DEFB109P1 DEFB109P1B DEFB103A DEFB103B
DEFB130 for paralogs About GeneDecksing
5/8 Pseudogenes.org Pseudogenes for DEFB130 (see all 8)
PGOHUM00000242785 PGOHUM00000239315 PGOHUM00000245828 PGOHUM00000250754 PGOHUM00000249221
|
Genomic Variants
for DEFB130 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 8 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for DEFB130 (12168471 - 12175825 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 27 variations for DEFB130
11 CNVs: 2736 31428 8596 70289 0297 70301 52352 70300 34527 3720 70288
15/16 Inversions (see all 16): 37318 37316 37307 37317 37311 37319 37320 37315 37312 37321 37304 37313 37314 37305 37306 | SABiosciences Cancer Mutation PCR Assays |
|
Disorders
/ Diseases
for DEFB130 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 DEFB130 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 DEFB130 gene integrated from 9 sources:
(articles sorted by number of sources associating them with DEFB130) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Cross-species analysis of the mammalian beta-defensin gene family: presence of syntenic gene clusters and preferential expression in the male reproductive tract. (PubMed id 16033865)1, 2, 3 Patil A.A.... Zhang G. (2005)
- Discovery of five conserved beta-defensin gene clusters using a computational search strategy. (PubMed id 11854508)1, 3 Schutte B.C.... McCray P.B. Jr. (2002)
- DNA sequence and analysis of human chromosome 8. (PubMed id 16421571)2 Nusbaum C....Lander E.S. (2006)
- Identification, cloning and functional characterization of novel beta-defensins in the rat (Rattus norvegicus). (PubMed id 16457734)9 Yenugu S....Hall S.H. (2006)
|
External Searches for DEFB130 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing DEFB130 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing DEFB130 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing DEFB130 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 DEFB130 | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for DEFB130 gene:
Search GeneIP for patents involving DEFB130
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for DEFB130 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 DEFB130 | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for DEFB130 | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for DEFB130 | | | OriGene Protein Over-expression Lysate for DEFB130 | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for DEFB130 | | Browse 3'-UTR reporter clones for miRNA target validation | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for DEFB130 | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for DEFB130 | | | 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 DEFB130 | | OriGene Custom Protein Services for DEFB130 | | | OriGene Custom Immunoassay Development | | |
| |
 |
 |
| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat DEFB130 | | | Search QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing DEFB130 | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DEFB130 | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat DEFB130 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat DEFB130 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat DEFB130 |
| |
 |  |  |  | |
| | | | Search Tocris compounds for DEFB130 |
| |  |  |  |  | | | | |
 |
 |
 |
 | | | | |  |  |  |  | | | | Search ThermoFisher Antibodies for DEFB130 |
| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DEFB130 |
| |  | |
|
|
|
