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DEFB119 Gene

protein-coding   GIFtS: 50
GCID: GC20M029964

Defensin, Beta 119

(Previous names: defensin, beta 120)
(Previous symbol: DEFB120)
Microbiology & Infectious Diseases Congress
  See related diseases
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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This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Defensin, Beta 1191 2 3     Defensin, Beta 192
Defensin, Beta 1201 2 3     Defensin, Beta 202
DEFB1201 2 3     DEFB193
DEFB-192 3     DEFB203
DEFB-202 3     Beta-Defensin 1203
ESC42-RELA2 3     Beta-Defensin 193
ESC42-RELB2     Beta-Defensin 203
Beta-Defensin 1192     

External Ids:    HGNC: 180991   Entrez Gene: 2459322   Ensembl: ENSG000001804837   UniProtKB: Q8N6903   
ORGUL members:         

Export aliases for DEFB119 gene to outside databases

Previous GC identifers: GC20U990234 GC20M029712 GC20M030662 GC20M030709 GC20M029428 GC20M026753


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for DEFB119 Gene:
This gene encodes a member of a family of small secreted proteins. These proteins participate in immune defense
against microbial infection. This gene is located in a cluster of similar genes on chromosome 20. Alternative
splicing results in multiple transcript variants. (provided by RefSeq, Sep 2012)

GeneCards Summary for DEFB119 Gene:
DEFB119 (defensin, beta 119) is a protein-coding gene. Diseases associated with DEFB119 include childhood leukemia, and meningioma.

UniProtKB/Swiss-Prot: DB119_HUMAN, Q8N690
Function: Has antibacterial activity (Potential)

Gene Wiki entry for DEFB119 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 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_011362.11  
Regulatory elements:
   Regulatory transcription factor binding sites in the DEFB119 gene promoter:
         RORalpha1   MIF-1   GATA-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidDEFB119 promoter sequence
   Search Chromatin IP Primers for DEFB119

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat DEFB119


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

Entrez Gene cytogenetic band: 20q11.21   Ensembl cytogenetic band:  20q11.21   HGNC cytogenetic band: 20q11.21

DEFB119 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DEFB119 gene location

GeneLoc information about chromosome 20         GeneLoc Exon Structure

GeneLoc location for GC20M029964:  view genomic region     (about GC identifiers)

Start:
29,964,967 bp from pter      End:
29,978,406 bp from pter
Size:
13,440 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: DB119_HUMAN, Q8N690 (See protein sequence)
Recommended Name: Beta-defensin 119 precursor  
Size: 84 amino acids; 9822 Da
Secondary accessions: Q5GRG1 Q5JWP1 Q5TH42 Q8N689
Alternative splicing: 3 isoforms:  Q8N690-1   Q8N690-2   Q8N690-3   (Abundantly expressed in testis)

Explore the universe of human proteins at neXtProt for DEFB119: NX_Q8N690

REFSEQ proteins (3 alternative transcripts): 
NP_001258138.1  NP_695021.2  NP_697018.1  

ENSEMBL proteins: 
 ENSP00000345768   ENSP00000365499   ENSP00000365492  
Reactome Protein details: Q8N690

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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 Q8N690

ProtoNet protein and cluster: Q8N690

UniProtKB/Swiss-Prot: DB119_HUMAN, Q8N690
Similarity: Belongs to the beta-defensin family


DEFB119 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: DB119_HUMAN, Q8N690
Function: Has antibacterial activity (Potential)

Phenotypes:
     1 GenomeRNAi human phenotype for DEFB119:

 Decreased viability with pacli 

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
DB119_HUMAN, Q8N690: Secreted (Potential)
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
extracellular3
cytoskeleton1
cytosol1
nucleus1

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

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

DEFB119 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 DEFB119 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 DEFB119
    Defensins
Beta defensins



DEFB119 for pathways           About GeneDecksing

    Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for DEFB119
Interactions:

    Search GeneGlobe Interaction Network for DEFB119

Gene Ontology (GO): 2 biological process terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0006952defense response ----
GO:0042742defense response to bacterium IEA--

DEFB119 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 drugs & compounds from Enzo Life Sciences
  Browse compounds at ApexBio 

Browse Tocris compounds for DEFB119 (DB119)



(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 DEFB119 gene (3 alternative transcripts): 
NM_001271209.1  NM_153289.3  NM_153323.4  

Unigene Cluster for DEFB119:

Defensin, beta 119
Hs.516998  [show with all ESTs]
Unigene Representative Sequence: BM559648
4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000492344 ENST00000339144(uc002wvs.3) ENST00000376321(uc002wvt.3)
ENST00000376315(uc002wvu.1)
Congresses - knowledge worth sharing:
European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

miRNA
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1 qRT-PCR Assays for microRNA that regulate DEFB119:
hsa-miR-590-3p
SwitchGear 3'UTR luciferase reporter plasmidDEFB119 3' UTR sequence
Inhib. RNA
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Additional mRNA sequence: 

AF479699.1 AY122472.1 AY122473.1 BC062212.1 NR_073151.1 NR_073152.1 NR_073153.1 

7 DOTS entries:

DT.75163471  DT.445431  DT.101981255  DT.40112149  DT.92418983  DT.97770461  DT.97794573 

Selected AceView cDNA sequences (see all 52):

AA910026 NM_153289 AY122472 NM_173460 AW173087 AY122473 AI651078 AW291899 
AL709257 AA442458 AI005061 AI954833 BC062212 BM702993 BU852363 AW235353 
AA769984 H92096 BU854293 AA807414 AW236934 BX106379 AI631437 BM559648 

GeneLoc Exon Structure

Selected Alternative Splicing Database (ASD) splice patterns (SP) for DEFB119 (see all 6)    About this scheme

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b
SP1:                          -     -     -                     
SP2:                                                            
SP3:                          -     -     -     -               
SP4:                          -     -                           
SP5:                                                            


ECgene alternative splicing isoforms for DEFB119

(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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DEFB119 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: TGCCTGCTAA
DEFB119 Expression
About this image


DEFB119 expression in embryonic tissues and stem cells    About this table
Data from LifeMap, the Embryonic Development and Stem Cells Database
 selected tissues (see all 2) fully expand
 
 Testis (Reproductive System)    fully expand to see all 2 entries
         Pre-Sertoli Cells Testis Cord
         Seminiferous Tubules
 
 Kidney (Urinary System)
DEFB119 Protein expression data from MOPED1, PaxDb2 and MaxQB3 --

SOURCE GeneReport for Unigene cluster: Hs.516998
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In Situ
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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 DEFB119 gene from Selected species (see all 5)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Defb191 , 5 defensin beta 191, 5 77.29(n)1
66.67(a)1
  2 (75.31 cM)5
2467001  NM_145157.31  NP_660139.11 
 1525760865 


ENSEMBL Gene Tree for DEFB119 (if available)
TreeFam Gene Tree for DEFB119 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for DEFB119 gene
3 SIMAP similar genes for DEFB119 using alignment to 1 protein entry:     DB119_HUMAN:
DEFB123    DEFB121    DEFB124

DEFB119 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 DEFB119 (see all 381)    About this table    
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 20 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1423206161,2
C--29964529(+) ACTAT-/CAACAACA 4 -- ds50010--------
rs61199961,2
H--29964667(+) aactaG/Agccaa 4 -- ds50014Minor allele frequency- A:0.00NS EA 420
rs1412862271,2
--29964760(+) ATTAAC/GTCATA 4 -- ds50010--------
rs1914695281,2
--29964780(+) AAAGCC/TTTCGA 4 -- ds50010--------
rs1450394621,2
--29964841(+) TTCTCG/TGTAAT 4 -- ds50010--------
rs1839417271,2
C--29964908(+) CATTGC/TCACCA 4 -- ds50010--------
rs1388209761,2
--29964914(+) CACCAC/TGCAAA 4 -- ds50010--------
rs22729481,2
C,H--29964935(-) AATCAT/CAGTGA 4 -- ds50013Minor allele frequency- C:0.07EA NS 1736
rs1419148771,2
--29964977(+) GGCACA/GTGAAT 4 -- ut31 nc-transcript-variant0--------
rs1153552261,2
C,F--29964988(+) TTTAAT/CGAGGG 4 -- ut31 nc-transcript-variant1Minor allele frequency- C:0.02WA 118

HapMap Linkage Disequilibrium report for DEFB119 (29964967 - 29978406 bp)

Structural Variations
     Database of Genomic Variants (DGV) 3 variations for DEFB119:    About this table    
Variant IDTypeSubtypePubMed ID
nsv458961CNV Gain19166990
nsv912835CNV Gain21882294
nsv470546CNV Gain18288195

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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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3 diseases for DEFB119:    
About MalaCards
childhood leukemia    meningioma    leukemia


DEFB119 for disorders           About GeneDecksing

Genetic Association Database (GAD): DEFB119
Human Genome Epidemiology (HuGE) Navigator: DEFB119 (4 documents)

Export disorders for DEFB119 gene to outside databases

(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 DEFB119 gene, integrated from 10 sources (see all 13):
(articles sorted by number of sources associating them with DEFB119)
    Utopia: connect your pdf to the dynamic
world of online information

  1. 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)
  2. Polymorphisms in innate immunity genes and risk of childhood leukemia. (PubMed id 20438785)1, 4 Han S....Kang D. (Hum. Immunol. 2010)
  3. Risk of meningioma and common variation in genes related to innate immunity. (PubMed id 20406964)1, 4 Rajaraman P....Inskip P.D. (amp 2010)
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
  5. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PubMed id 12975309)1, 2 Clark H.F.... Gray A.M. (Genome Res. 2003)
  6. The DNA sequence and comparative analysis of human chromosome 20. (PubMed id 11780052)1, 2 Deloukas P....Rogers J. (Nature 2001)
  7. Common variation in genes related to innate immunity and risk of adult glioma. (PubMed id 19423540)1 Rajaraman P....Chanock S.J. (amp 2009)
  8. Human beta-defensins. (PubMed id 16710608)1 Pazgier M....Lubkowski J. (Cell. Mol. Life Sci. 2006)
  9. Identification, characterization, and evolution of a primate beta- defensin gene cluster. (PubMed id 15772680)2 Radhakrishnan Y....Hall S.H. (Genes Immun. 2005)
  10. Defensins of vertebrate animals. (PubMed id 11790538)1 Lehrer R.I. and Ganz T. (Curr. Opin. Immunol. 2002)

(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: 245932 HGNC: 18099 AceView: DEFB119 Ensembl:ENSG00000180483 euGenes: HUgn245932
ECgene: DEFB119 H-InvDB: DEFB119

(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 DEFB119 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 DEFB119 gene:
Search GeneIP for patents involving DEFB119

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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GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014

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