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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

DEFB128 Gene

protein-coding   GIFtS: 36
GCID: GC20M000117

Defensin, Beta 128

Microbiology & Infectious Diseases Congress
  Search for DEFB128
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

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 identifer: GC20U990241


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

GeneCards Summary for DEFB128 Gene: 
DEFB128 (defensin, beta 128) is a protein-coding gene. Among its related super-pathways are Defensins and Immune System.

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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000020.10  NC_018931.2  NT_011387.8  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for DEFB128

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 GC20M000117:  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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: DB128_HUMAN, Q7Z7B8 (See protein sequence)
Recommended Name: Beta-defensin 128 precursor  
Size: 93 amino acids; 10650 Da
Subcellular location: Secreted (Potential)
Secondary accessions: B2RU29

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

Explore proteomics data for DEFB128 at MOPED 

DEFB128 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

DEFB128 Protein Expression

REFSEQ proteins: NP_001032821.1  
ENSEMBL proteins: 
 ENSP00000335382  
Reactome Protein details: Q7Z7B8
Human Recombinant Protein Products for DEFB128: 
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Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

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

DEFB128 for ontologies           About GeneDecksing



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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section
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,
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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
About This Section

Molecular Function:

     UniProtKB/Swiss-Prot Summary: DB128_HUMAN, Q7Z7B8
Function: Has antibacterial activity (Potential)

Animal Models:

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(Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
About This Section

SuperPaths for DEFB128 About                                                                                                See pathways by source

SuperPathContained pathways About
1Beta defensins
Defensins0.80
Beta defensins0.80
2Immune System
Immune System0.56
Innate Immune System0.50

Pathways by source                                                                                                                                                                 See SuperPaths
Show all pathways


4        Reactome Pathways for DEFB128
    Defensins
Beta defensins
Immune System
Innate Immune System



DEFB128 for pathways           About GeneDecksing

Interactions:

    Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for DEFB128

Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    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 HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section
Browse Small Molecules at EMD Millipore
Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for DEFB128 (DB128)

Search CenterWatch for drugs/clinical trials and news about 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,
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, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

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

miRNA
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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™, 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

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


See DEFB128 Protein Expression from SPIRE MOPED and PaxDB
SOURCE GeneReport for Unigene cluster: Hs.516818
    SABiosciences Custom PCR Arrays for DEFB128
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In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DEFB128

(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 DEFB128 gene from 1/4 species (see all 4)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Defb201 , 5 defensin beta 201, 5 65.92(n)1
56.18(a)1
  2 (75.11 cM)5
3195791  NM_176950.31  NP_795924.21 
 1524770635 


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)
About This Section
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) 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

10/136 SNPs in DEFB128 are shown (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.)
About This Section
  --

(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 DEFB128 gene integrated from 9 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. (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. (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. (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. (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. (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. (2002)
  7. The DNA sequence and comparative analysis of human chromosome 20. (PubMed id 11780052)2 Deloukas P....Rogers J. (2001)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section
 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)
About This Section
Entrez Gene: 245939 HGNC: 18106 Ensembl:ENSG00000185982 euGenes: HUgn245939 ECgene: DEFB128
H-InvDB: DEFB128

(According to HUGE)
About This Section
  --

(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
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.)
About This Section
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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, 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
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About This Section

 
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 Codon Optimization
 Protein Production and Purification
 Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DEFB128
 Browse SwitchGear 3'UTR luciferase reporter plasmids for DEFB128
 SwitchGear Promoter luciferase reporter plasmids for DEFB128
 Search ThermoFisher Antibodies for DEFB128
 Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DEFB128
 inGenious Targeting Laboratory - Custom generated mouse model solutions for DEFB128
 inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for DEFB128
Customized:
 lentivirus for stable overexpression of DEFB128
 lentivirus expression plasmids for stable overexpression of DEFB128
 adenovirus for overexpression of DEFB128
 Search LSBio for Antibodies for DEFB128
Customized transgenic rodents for:
 Humanization
 Biomarker expression
 Off-target effect monitoring
 Translational medicine
 Tissue-specific gene expresssion
 Time-controlled gene expresssion
       
GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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