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DEFB124 Gene

protein-coding   GIFtS: 39
GCID: GC20M030053

Defensin, Beta 124

  Search for DEFB124
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Defensin, Beta 1241 2 3     defensin1
Beta-Defensin 242 3     Beta-Defensin 1242
DEFB-242 3     Defensin, Beta 242
Beta 241     DEFB243

External Ids:    HGNC: 181041   Entrez Gene: 2459372   Ensembl: ENSG000001803837   UniProtKB: Q8NES83   

Export aliases for DEFB124 gene to outside databases

Previous GC identifers: GC20U990239 GC20M029801 GC20M030751 GC20M030798 GC20M029516 GC20M026842


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for DEFB124 Gene:
DEFB124 (defensin, beta 124) is a protein-coding gene.

UniProtKB/Swiss-Prot: DB124_HUMAN, Q8NES8
Function: Has antibacterial activity (Potential)




(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000020.10  NC_018931.2  NT_011362.11  
Regulatory elements:
   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

SwitchGear Promoter luciferase reporter plasmidDEFB124 promoter sequence
   Search Chromatin IP Primers for DEFB124

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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: 20q11.1

DEFB124 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DEFB124 gene location

GeneLoc information about chromosome 20         GeneLoc Exon Structure

GeneLoc location for GC20M030053:  view genomic region     (about GC identifiers)

Start:
30,053,309 bp from pter      End:
30,064,560 bp from pter
Size:
11,252 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: DB124_HUMAN, Q8NES8 (See protein sequence)
Recommended Name: Beta-defensin 124 precursor  
Size: 71 amino acids; 8058 Da
Secondary accessions: Q30E74

Explore the universe of human proteins at neXtProt for DEFB124: NX_Q8NES8

Explore proteomics data for DEFB124 at MOPED


See DEFB124 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_001032589.1  
ENSEMBL proteins: 
 ENSP00000326309  
Reactome Protein details: Q8NES8

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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HGNC Gene Families:
DEFB: Defensins, beta

1 InterPro protein domain:
 IPR025933 Beta_defensin

Graphical View of Domain Structure for InterPro Entry Q8NES8

ProtoNet protein and cluster: Q8NES8

UniProtKB/Swiss-Prot: DB124_HUMAN, Q8NES8
Similarity: Belongs to the beta-defensin family


Find genes that share domains with DEFB124           About GenesLikeMe


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

     UniProtKB/Swiss-Prot Summary: DB124_HUMAN, Q8NES8
Function: Has antibacterial activity (Potential)

Animal Models:

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(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot
DB124_HUMAN, Q8NES8: Secreted (Potential)
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
extracellular3

Gene Ontology (GO): 1 cellular component term:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005576extracellular region IEA--

Find genes that share ontologies with DEFB124           About GenesLikeMe


(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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SuperPaths for DEFB124 About    
See pathways by source

SuperPathContained pathways About
1Defensins
Defensins0.80
Beta defensins0.80


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Pathways by source                                                                                                                                                                 See SuperPaths
Show all pathways


2 Reactome Pathways for DEFB124
    Defensins
Beta defensins


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Interactions:

    Search GeneGlobe Interaction Network for DEFB124

Gene Ontology (GO): 1 biological process term:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0042742defense response to bacterium IEA--

Find genes that share ontologies with DEFB124           About GenesLikeMe



(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Tocris compounds for DEFB124 (DB124)



(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 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,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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REFSEQ mRNAs for DEFB124 gene: 
NM_001037500.1  

Unigene Cluster for DEFB124:

Defensin, beta 124
Hs.381373
Unigene Representative Sequence: DQ119827
2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000317676(uc002wvz.1) ENST00000481595
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Additional mRNA sequence: 

AY122476.1 DQ119827.1 

1 DOTS entry:

DT.99927642 

GeneLoc Exon Structure


(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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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DEFB124 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: AATATGAGTA
DEFB124 Expression
About this image

DEFB124 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

DEFB124 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.381373
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In Situ
Assay Products:
 

 
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(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)
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This gene was present in the common ancestor of human and mouse.

Orthologs for DEFB124 gene from Selected species (see all 4)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Defb255 defensin beta 25   --   2 (75.41 cM) 152622356 


ENSEMBL Gene Tree for DEFB124 (if available)
TreeFam Gene Tree for DEFB124 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for DEFB124 gene
6 SIMAP similar genes for DEFB124 using alignment to 1 protein entry:     DB124_HUMAN:
DEFB108B    DEFB108P1    DEFB108P2    DEFB123    DEFB121    DEFB119

Find genes that share paralogs with DEFB124           About GenesLikeMe



(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for DEFB124 (see all 174)    About this table                                 

Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 20 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1491265191,2
--30053084(+) GGTTCA/GGTAAT 1 -- ds50010--------
rs342673071,2
C,F,H--30053144(+) TACAAT/CGGTCA 1 -- ds500120Minor allele frequency- C:0.16NS EA NA WA CSA 2346
rs1117477651,2
C,F--30053227(+) CACCCG/ATGGTG 1 -- ds50014Minor allele frequency- A:0.13CSA WA 124
rs1175583771,2
C,F--30053249(+) ACAGGC/TGAGCA 1 -- ds50012Minor allele frequency- T:0.01NA EU 711
rs60594401,2
C,F,A,H--30053255(+) GAGCAG/AGCAGA 1 -- ds500124Minor allele frequency- A:0.46NS EA NA WA CSA EU 2923
rs1437864251,2
C,F--30053314(+) CTACTC/TATATT 2 K E mis12Minor allele frequency- T:0.00NA EU 5871
rs1481401301,2
C,F--30053322(+) ATTCAT/GGCTTG 2 /H /P mis12Minor allele frequency- G:0.00NA EU 5871
rs1140540171,2
C,F--30053334(+) GGACCG/AGTGGA 2 /P /L mis12Minor allele frequency- A:0.01WA NA 4670
rs1167543681,2
C,F--30053352(+) ATGCAT/CAGGAG 2 /Y /C mis12Minor allele frequency- C:0.02WA NA 4670
rs1434184001,2
C--30053372(+) AGGGAC/TGCATC 2 A syn10--------

HapMap Linkage Disequilibrium report for DEFB124 (30053309 - 30064560 bp)

Structural Variations
     Database of Genomic Variants (DGV) 2 variations for DEFB124:    About this table    
Variant IDTypeSubtypePubMed ID
nsv458961CNV Gain19166990
nsv470546CNV Gain18288195

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(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.)
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  --

(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)
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PubMed articles for DEFB124 gene integrated from 10 sources:
(articles sorted by number of sources associating them with DEFB124)
    Utopia: connect your pdf to the dynamic
world of online information

  1. 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. (Physiol. Genomics 2005)
  2. 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. (Proc. Natl. Acad. Sci. U.S.A. 2002)
  3. The DNA sequence and comparative analysis of human chromosome 20. (PubMed id 11780052)1, 2 Deloukas P....Rogers J. (Nature 2001)
  4. Identification, cloning and functional characterization of novel beta-defensins in the rat (Rattus norvegicus). (PubMed id 16457734)9 Yenugu S....Hall S.H. (amp 2006)

(in PubMed, OMIM, and NCBI Bookshelf)
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 ANDOR
Aliases
Free Text  

  Query String
PubMed
OMIM
NCBI Bookshelf
  (Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 245937 HGNC: 18104 Ensembl:ENSG00000180383 euGenes: HUgn245937 ECgene: DEFB124
H-InvDB: DEFB124

(According to HUGE)
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  --

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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NameDescription
PharmGKB entry for DEFB124 Pharmacogenomics, SNPs, Pathways

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
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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



(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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The GeneCards human gene database gene index: 1 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

Hot genes      Disease genes      DEFB124 gene at Home site.
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