DEFB124 Gene
protein-coding GIFtS: 38
GCID: GC20M030053
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defensin, beta 124
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Aliases
for DEFB124 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 1241 2 3 | | DEFB-241 2 3 | | Beta-Defensin 242 3 | | Beta-Defensin 1242 | | Defensin, Beta 242 | | DEFB243 |
Export aliases for DEFB124 gene to outside databasesPrevious GC identifers: GC20U990239 GC20M029801 GC20M030751 GC20M030798 GC20M029516 GC20M026842 |
Summaries
for DEFB124 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: DB124_HUMAN, Q8NES8Function: Has antibacterial activity (Potential)
|
Genomic Views
for DEFB124 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_011362.10
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the DEFB124 gene promoter:
Max1 HEN1 Elk-1 AML1a Meis-1a Meis-1b Evi-1 c-Myc
Other transcription factors
Search SABiosciences Chromatin IP Primers for DEFB124
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DEFB124 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 20q11.1 Ensembl cytogenetic band: 20q11.21 HGNC cytogenetic band: 20q11.1DEFB124 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 GC20M030053: view genomic region
(about GC identifiers)
Start:
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30,053,309 bp from pter |
End:
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30,064,560 bp from pter |
Size:
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11,252 bases |
Orientation:
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minus strand |
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Proteins
for DEFB124 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: DB124_HUMAN, Q8NES8 (See
protein sequence)Recommended Name: Beta-defensin 124 precursor Size: 71 amino acids; 8058 Da
Subcellular location: Secreted (Potential)
Secondary accessions: Q30E74Explore the universe of human proteins at neXtProt for DEFB124: NX_Q8NES8
DEFB124 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_001032589.1
ENSEMBL proteins: ENSP00000326309 Reactome Protein details: Q8NES8
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 | -- |
DEFB124 for ontologies About GeneDecksing
DEFB124 Antibody Products:
Assay Products for DEFB124: |
Protein
Domains /
Families
for DEFB124 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
DEFB124 for domains About GeneDecksing
1 InterPro domain/family:Graphical View of Domain Structure for InterPro Entry Q8NES8ProtoNet protein and cluster: Q8NES8 UniProtKB/Swiss-Prot: DB124_HUMAN, Q8NES8Similarity: Belongs to the beta-defensin family |
Function
for DEFB124 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: DB124_HUMAN, Q8NES8Function: 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 DEFB124 (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for DEFB124
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: DEFB124 (NM_001037500) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for DEFB124 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DEFB124 |
|
Pathways & Interactions
for DEFB124 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 DEFB124 (see all 6)
DEFB124 for pathways About GeneDecksing
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for DEFB124
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 | -- |
DEFB124 for ontologies About GeneDecksing
|
Drugs & Compounds
for DEFB124 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 DEFB124
Search CenterWatch for drugs/clinical trials and news about DEFB124 / DB124
|
Transcripts
for DEFB124 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 DEFB124 gene: NM_001037500.1 Unigene Cluster for DEFB124: Defensin, beta 124 Hs.381373 Unigene Representative Sequence: DQ1198272 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000317676(uc002wvz.1) ENST00000481595
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for DEFB124 (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for DEFB124
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: DEFB124 (NM_001037500) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for DEFB124 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DEFB124 |
Additional cDNA sequence: AY122476.1 DQ119827.1 1 DOTS entry: DT.99927642
GeneLoc Exon Structure
|
Expression
for DEFB124 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
| DEFB124 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: AATATGAGTA
About this image
See DEFB124 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for DEFB124
SOURCE GeneReport for Unigene cluster: Hs.381373
SABiosciences Custom PCR Arrays for DEFB124
Primer
Products: | | Browse OriGene genome-wide validated SYBR primer pairs
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat DEFB124 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat DEFB124 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat DEFB124 |
Orthologs
for DEFB124 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 DEFB124 gene from 1/5 species (see all 5) About this table
ENSEMBL Gene Tree for DEFB124 (if available)
TreeFam Gene Tree for DEFB124 (if available) |
Paralogs
for DEFB124 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| -- |
Genomic Variants
for DEFB124 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 DEFB124 (30053309 - 30064560 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for DEFB124: -- | SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing DEFB124 |
|
Disorders
/ Diseases
for DEFB124 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 DEFB124 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 DEFB124 gene integrated from 9 sources:
(articles sorted by number of sources associating them with DEFB124) | |  | 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, 2, 3 Schutte B.C.... McCray P.B. Jr. (2002)
- The DNA sequence and comparative analysis of human chromosome 20. (PubMed id 11780052)1, 2 Deloukas P....Rogers J. (2001)
- 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 DEFB124 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
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Genome Databases showing DEFB124 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing DEFB124 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing DEFB124 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 DEFB124 | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for DEFB124 gene:
Search GeneIP for patents involving DEFB124
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for DEFB124 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 DEFB124 | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for DEFB124 | | Browse OriGene genome-wide validated SYBR primer pairs | | | OriGene Protein Over-expression Lysate for DEFB124 | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for DEFB124 | | Browse 3'-UTR reporter clones for miRNA target validation | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for DEFB124 | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for DEFB124 | | | 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 DEFB124 | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling | | | OriGene Custom Antibody Services for DEFB124 | | OriGene Custom Protein Services for DEFB124 | | | OriGene Custom Immunoassay Development | | |
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat DEFB124 | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing DEFB124 | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DEFB124 | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat DEFB124 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat DEFB124 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat DEFB124 |
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 |  |  |  | |
| | | | Search Tocris compounds for DEFB124 |
| |  |  |  |  | | | | |
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 | | | | |  |  |  | | | | Search ThermoFisher Antibodies for DEFB124 |
| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DEFB124 |
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