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DEFB128 Gene

protein-coding   GIFtS: 36
GCID: GC20M000168

Defensin, Beta 128

Microbiology & Infectious Diseases Congress
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(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 1281 2 3     defensin1
Beta-Defensin 282 3     Beta-Defensin 1282
DEFB-282 3     Defensin, Beta 282
DEFB282 3     hBD-282
Beta 281     

External Ids:    HGNC: 181061   Entrez Gene: 2459392   Ensembl: ENSG000001859827   UniProtKB: Q7Z7B83   

Export aliases for DEFB128 gene to outside databases

Previous GC identifers: GC20U990241 GC20M000117


(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 DEFB128 Gene:
DEFB128 (defensin, beta 128) is a protein-coding gene.

UniProtKB/Swiss-Prot: DB128_HUMAN, Q7Z7B8
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:
NC_000020.11  NC_018931.2  NT_011387.9  
Regulatory elements:
   Regulatory transcription factor binding sites in the DEFB128 gene promoter:
         HOXA9   HOXA9B   TBP   Nkx3-1 v4   IRF-1   Meis-1b   AREB6   FOXO4   Nkx3-1 v3   Meis-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidDEFB128 promoter sequence
   Search Chromatin IP Primers for DEFB128

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat DEFB128


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 20p13   Ensembl cytogenetic band:  20p13   HGNC cytogenetic band: 20p13

DEFB128 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DEFB128 gene location

GeneLoc information about chromosome 20         GeneLoc Exon Structure

GeneLoc location for GC20M000168:  view genomic region     (about GC identifiers)

Start:
168,494 bp from pter      End:
170,322 bp from pter
Size:
1,829 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: DB128_HUMAN, Q7Z7B8 (See protein sequence)
Recommended Name: Beta-defensin 128 precursor  
Size: 93 amino acids; 10650 Da
Secondary accessions: B2RU29

Explore the universe of human proteins at neXtProt for DEFB128: NX_Q7Z7B8

Explore proteomics data for DEFB128 at MOPED


See DEFB128 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_001032821.1  
ENSEMBL proteins: 
 ENSP00000335382  
Reactome Protein details: Q7Z7B8

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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 Q7Z7B8

ProtoNet protein and cluster: Q7Z7B8

UniProtKB/Swiss-Prot: DB128_HUMAN, Q7Z7B8
Similarity: Belongs to the beta-defensin family


DEFB128 for domains           About GeneDecksing


(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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

     UniProtKB/Swiss-Prot Summary: DB128_HUMAN, Q7Z7B8
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
DB128_HUMAN, Q7Z7B8: 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--

DEFB128 for ontologies           About GeneDecksing


(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 DEFB128 About    
See pathways by source

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

Pathways by source                                                                                                                                                                 See SuperPaths
Show all pathways


2 Reactome Pathways for DEFB128
    Defensins
Beta defensins



DEFB128 for pathways           About GeneDecksing

    Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for DEFB128
Interactions:

    Search GeneGlobe Interaction Network for DEFB128

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

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

DEFB128 for ontologies           About GeneDecksing



(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 DEFB128 (DB128)



(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,
Conferences by KenesGroup, 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, Primers from OriGene, and/or QIAGEN )
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REFSEQ mRNAs for DEFB128 gene: 
NM_001037732.1  

Unigene Cluster for DEFB128:

Defensin, beta 128
Hs.516818
Unigene Representative Sequence: BC140936
1 Ensembl transcript including schematic representation, and UCSC links where relevant:
ENST00000334391(uc002wcz.1)
Congresses - knowledge worth sharing:
European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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Additional mRNA sequence: 

AF525930.1 BC140936.1 

1 DOTS entry:

DT.100700675 

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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DEFB128 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: TGTCATTTAA
DEFB128 Expression
About this image

DEFB128 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

DEFB128 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.516818
    Custom PCR Arrays for DEFB128
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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 DEFB128 gene from Selected species (see all 2)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Defb205 defensin beta 20   --   2 (75.11 cM) 152477063 


ENSEMBL Gene Tree for DEFB128 (if available)
TreeFam Gene Tree for DEFB128 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for DEFB128 gene
3 SIMAP similar genes for DEFB128 using alignment to 1 protein entry:     DB128_HUMAN:
DEFB123    DEFB115    DEFB127

DEFB128 for paralogs           About GeneDecksing



(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 DEFB128 (see all 136)    About this table    
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 20 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1479360501,2
C--168029(+) CATAAC/TGATGG 1 -- ds50010--------
rs1904153131,2
--168030(+) ATAACA/GATGGG 1 -- ds50010--------
rs1822422861,2
C--168052(+) CTGGGA/GACTAA 1 -- ds50010--------
rs13421361,2
C,F,A,H--168080(+) agaggA/Ggaaag 1 -- ds50019Minor allele frequency- G:0.46NA WA CSA EA 370
rs1171656381,2
F--168134(+) GATGGG/AATCAG 1 -- ds50011Minor allele frequency- A:0.07EA 120
rs130382071,2
C,F--168139(+) gatcaG/Attgta 1 -- ds500111Minor allele frequency- A:0.21NA WA CSA EA 374
rs1400490621,2
--168230(+) TATTTC/TCTTAA 1 -- ds50010--------
rs130383801,2
C,F,H--168241(+) AAATGG/AAAAGG 1 -- ds500123Minor allele frequency- A:0.17NS EA NA WA CSA 2400
rs48130411,2
C,H--168407(+) TTATTA/GTGTGG 1 -- ds50014Minor allele frequency- G:0.00NS EA 412
rs1409895271,2
C--168457(+) TGCAGC/GCTGCT 1 -- ds50010--------

HapMap Linkage Disequilibrium report for DEFB128 (168494 - 170322 bp)

Structural Variations
     Database of Genomic Variants (DGV) 8 variations for DEFB128:    About this table    
Variant IDTypeSubtypePubMed ID
esv2751910CNV Loss17911159
nsv510776CNV Loss20534489
nsv469544CNV Loss16826518
dgv65n68CNV Loss17160897
dgv4506n71CNV Gain21882294
nsv912557CNV Gain21882294
nsv912554CNV Gain21882294
dgv4507n71CNV Gain21882294

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, 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 DEFB128 gene integrated from 10 sources:
(articles sorted by number of sources associating them with DEFB128)
    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, 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, 3 Schutte B.C.... McCray P.B. Jr. (Proc. Natl. Acad. Sci. U.S.A. 2002)
  3. Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. (PubMed id 23251661)1 Comuzzie A.G....Butte N.F. (PLoS ONE 2012)
  4. 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. (Genome Res. 2004)
  5. Distribution of new human beta-defensin genes clustered on chromosome 20 in functionally different segments of epididymis. (PubMed id 12620395)2 Rodriguez-Jimenez F.-J.... Motzkus D. (Genomics 2003)
  6. 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. (Proc. Natl. Acad. Sci. U.S.A. 2002)
  7. The DNA sequence and comparative analysis of human chromosome 20. (PubMed id 11780052)2 Deloukas P....Rogers J. (Nature 2001)

(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: 245939 HGNC: 18106 Ensembl:ENSG00000185982 euGenes: HUgn245939 ECgene: DEFB128
H-InvDB: DEFB128

(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 DEFB128 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 DEFB128 gene:
Search GeneIP for patents involving DEFB128

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, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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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

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