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

DEFB118 Gene

protein-coding   GIFtS: 48
GCID: GC20P029956

Defensin, Beta 118

(Previous name: chromosome 20 open reading frame 63)
(Previous symbol: C20orf63)
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)
About This Section

Aliases
Defensin, Beta 1181 2 3     Chromosome 20 Open Reading Frame 631
C20orf631 2 3 5     Beta-Defensin 1182
ESC422 3 5     Defensin, Beta 182
Epididymal Secretory Protein 13.62 3     Epididymus Specific Clone 422
DEFB-182 3     DEFB183
ESP13.62 3     Beta-Defensin 183

External Ids:    HGNC: 161961   Entrez Gene: 1172852   Ensembl: ENSG000001310687   OMIM: 6076505   UniProtKB: Q96PH63   

Export aliases for DEFB118 gene to outside databases

Previous GC identifers: GC20P029744 GC20P030654 GC20P030701 GC20P029420 GC20P026745


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

Entrez Gene summary for DEFB118 Gene:
This gene encodes a member of the beta subfamily of defensins. Beta-defensins are antimicrobial peptides that
protect tissues and organs from infection by a variety of microorganisms. Expression of this gene is regulated by
androgen, and the encoded protein binds to sperm and exhibits antibacterial activity. This gene is found in a
cluster with other beta-defensin genes on the long arm of chromosome 20. (provided by RefSeq, Dec 2010)

GeneCards Summary for DEFB118 Gene: 
DEFB118 (defensin, beta 118) is a protein-coding gene. Diseases associated with DEFB118 include epididymitis, and meningioma, and among its related super-pathways are Defensins and Immune System.

UniProtKB/Swiss-Prot: DB118_HUMAN, Q96PH6
Function: Has antibacterial activity (Potential)

Gene Wiki entry for DEFB118 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 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_011362.10  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the DEFB118 gene promoter:
         Sox5   C/EBPbeta   FOXD1   STAT5A   LCR-F1   C/EBPalpha   POU2F1   POU2F1a   HSF1short   MRF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidDEFB118 promoter sequence
   Search SABiosciences Chromatin IP Primers for DEFB118

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DEFB118


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

DEFB118 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DEFB118 gene location

GeneLoc information about chromosome 20         GeneLoc Exon Structure

GeneLoc location for GC20P029956:  view genomic region     (about GC identifiers)

Start:
29,956,421 bp from pter      End:
29,961,726 bp from pter
Size:
5,306 bases      Orientation:
plus 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: DB118_HUMAN, Q96PH6 (See protein sequence)
Recommended Name: Beta-defensin 118 precursor  
Size: 123 amino acids; 13614 Da
Subcellular location: Secreted
Secondary accessions: Q17RC4 Q8N691 Q9NUH0

Explore the universe of human proteins at neXtProt for DEFB118: NX_Q96PH6

Explore proteomics data for DEFB118 at MOPED 

DEFB118 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

DEFB118 Protein Expression

REFSEQ proteins: NP_473453.1  
ENSEMBL proteins: 
 ENSP00000253381  
Reactome Protein details: Q96PH6
Human Recombinant Protein Products for DEFB118: 
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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--

DEFB118 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 Q96PH6

ProtoNet protein and cluster: Q96PH6

UniProtKB/Swiss-Prot: DB118_HUMAN, Q96PH6
Similarity: Belongs to the beta-defensin family


DEFB118 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: DB118_HUMAN, Q96PH6
Function: Has antibacterial activity (Potential)

Phenotypes:
     1 GenomeRNAi human phenotype for DEFB118:

 Synthetic lethal with Ras 

Animal Models:
   inGenious Targeting Laboratory - Custom generated mouse model solutions for DEFB118 
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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 DEFB118 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 DEFB118
    Defensins
Beta defensins
Immune System
Innate Immune System



DEFB118 for pathways           About GeneDecksing

Interactions:

    Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for DEFB118

Gene Ontology (GO): 4 biological process terms (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0007160cell-matrix adhesion NAS11564719
GO:0007283spermatogenesis NAS11564719
GO:0042742defense response to bacterium TAS10588992
GO:0045087innate immune response TAS10588992

DEFB118 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 DEFB118 (DB118)

Search CenterWatch for drugs/clinical trials and news about DEFB118 / DB118

(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 DEFB118 gene: 
NM_054112.2  

Unigene Cluster for DEFB118:

Defensin, beta 118
Hs.274124  [show with all ESTs]
Unigene Representative Sequence: BC035677
1 Ensembl transcript including schematic representation, and UCSC links where relevant:
ENST00000253381(uc002wvr.3)
Congresses - knowledge worth sharing:  
European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

miRNA
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Inhib. RNA
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Clone
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                     Customized lentivirus expression plasmids for stable overexpression of DEFB118 
Primer
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  QIAGEN QuantiFast Probe-based Assays in human, mouse, rat DEFB118

Additional mRNA sequence: 

AF347073.1 AF529415.1 AY122471.1 BC035677.1 BC117378.1 

1 DOTS entry:

DT.40266824 

3 AceView cDNA sequences:

AA835052 BC035677 BM554548 

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

DEFB118 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: ACTTCCTCTC
DEFB118 Expression
About this image


See DEFB118 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for DEFB118

SOURCE GeneReport for Unigene cluster: Hs.274124

UniProtKB/Swiss-Prot: DB118_HUMAN, Q96PH6
Tissue specificity: High-level and epididymis-specific expression. Most abundant in the epithelium of the caput
and is also present in the lumen and bound to sperm. Expressed also in pancreas

    SABiosciences Custom PCR Arrays for DEFB118
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In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DEFB118

(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 DEFB118 gene from 1/3 species (see all 3)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Defb215 defensin beta 21   --   2 (75.31 cM) 152572744 


ENSEMBL Gene Tree for DEFB118 (if available)
TreeFam Gene Tree for DEFB118 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
Paralogs for DEFB118 gene
6 SIMAP similar genes for DEFB118 using alignment to 1 protein entry:     DB118_HUMAN:
DEFB117    DEFB115    DEFB123    DEFB132    DEFB121    DEFB126

DEFB118 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

10/174 SNPs in DEFB118 are shown (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
----------
rs1414352381,2
--29954466(+) ACCCAC/GCTAGC 1 -- us2k10--------
rs788259271,2
C,F--29954623(+) CTTTTC/TTGTAG 1 -- us2k11Minor allele frequency- T:0.02NA 120
rs1508195271,2
--29954635(+) AAGAGA/CGAAAA 1 -- us2k10--------
rs1392396951,2
--29954644(+) AAAAGA/GTGTTT 1 -- us2k10--------
rs171246711,2
C,F--29954718(+) CATTCA/GTAAAA 1 -- us2k15Minor allele frequency- G:0.03NA WA 262
rs1445262221,2
--29954805(+) AATCAC/GTTAGA 1 -- us2k10--------
rs1144806261,2
C,F--29954928(+) GGTGCA/GGTGGC 1 -- us2k11Minor allele frequency- G:0.02WA 118
rs1859679001,2
--29954954(+) CAGCAC/GTTTGG 1 -- us2k10--------
rs1466236031,2
--29955181(+) CCTGGA/GCTACA 1 -- us2k10--------
rs1401302341,2
--29955270(+) CCACAA/TGGTTC 1 -- us2k10--------

HapMap Linkage Disequilibrium report for DEFB118 (29956421 - 29961726 bp)

Structural Variations
     Database of Genomic Variants (DGV) 3 variations for DEFB118:    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.)
About This Section
OMIM gene information: 607650    OMIM disorders: --

5 diseases for DEFB118:    About MalaCards
epididymitis    meningioma    hepatitis b    hepatitis
leukemia


DEFB118 for disorders           About GeneDecksing

Genetic Association Database (GAD): DEFB118
Human Genome Epidemiology (HuGE) Navigator: DEFB118 (6 documents)

Export disorders for DEFB118 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)
About This Section

PubMed articles for DEFB118 gene, integrated from 9 sources (see all 13):
(articles sorted by number of sources associating them with DEFB118)
    Utopia: connect your pdf to the dynamic
world of online information

  1. Primate epididymis-specific proteins: characterization of ESC42, a novel protein containing a trefoil-like motif in monkey and human. (PubMed id 11564719)1, 2, 3, 9 Liu Q.... Hall S.H. (2001)
  2. The androgen-regulated epididymal sperm-binding protein, human beta-defensin 118 (DEFB118) (formerly ESC42), is an antimicrobial beta-defensin. (PubMed id 15033915)1, 3, 9 Yenugu S....Hall S.H. (2004)
  3. Polymorphisms in innate immunity genes and risk of ch ildhood leukemia. (PubMed id 20438785)1, 4 Han S....Kang D. (2010)
  4. Risk of meningioma and common variation in genes rela ted to innate immunity. (PubMed id 20406964)1, 4 Rajaraman P....Inskip P.D. (2010)
  5. 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. (2004)
  6. ORFeome-based search of airway epithelial cell-specific novel human [beta]-defensin genes. (PubMed id 12600824)1, 2 Kao C.Y....Wu R. (2003)
  7. Discovery of five conserved beta-defensin gene clusters using a computational search strategy. (PubMed id 11854508)1, 2 Schutte B.C.... McCray P.B. Jr. (2002)
  8. The DNA sequence and comparative analysis of human chromosome 20. (PubMed id 11780052)1, 2 Deloukas P....Rogers J. (2001)
  9. New genetic associations detected in a host response study to hepatitis B vaccine. (PubMed id 20237496)1 Davila S....Seielstad M. (2010)
  10. Common variation in genes related to innate immunity and risk of adult glioma. (PubMed id 19423540)1 Rajaraman P....Chanock S.J. (2009)

(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: 117285 HGNC: 16196 AceView: DEFB118 Ensembl:ENSG00000131068 euGenes: HUgn117285
ECgene: DEFB118 H-InvDB: DEFB118

(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 DEFB118 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 DEFB118 gene:
Search GeneIP for patents involving DEFB118

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
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
About This Section

 
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GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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transforming growth factor, beta 1
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