DEFB118 Gene
protein-coding GIFtS: 46
GCID: GC20P029956
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|
defensin, beta 118(Previous name: chromosome 20 open reading frame 63 )
(Previous symbol: C20orf63)
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Aliases
for DEFB118 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Defensin, Beta 1181 2 3 | | DJ1018D12.31 | | C20orf631 2 3 5 | | Beta-Defensin 1182 | | ESC421 2 3 5 | | Defensin, Beta 182 | | DEFB-181 2 3 | | Epididymus Specific Clone 422 | | Epididymal Secretory Protein 13.62 3 | | DEFB183 | | ESP13.62 3 | | Beta-Defensin 183 | | Chromosome 20 Open Reading Frame 631 | | |
Export aliases for DEFB118 gene to outside databasesPrevious GC identifers: GC20P029744 GC20P030654 GC20P030701 GC20P029420 GC20P026745 |
Summaries
for DEFB118 gene(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:
This gene encodes a member of the beta subfamily of defensins. Beta-defensins are antimicrobial peptides that protecttissues 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 otherbeta-defensin genes on the long arm of chromosome 20. (provided by RefSeq, Dec 2010)
UniProtKB/Swiss-Prot: DB118_HUMAN, Q96PH6Function: Has antibacterial activity (Potential)
Gene Wiki entry for DEFB118
|
Genomic Views
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 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000020.10 NC_018931.1 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
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: 20q11.21DEFB118 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 20 GeneLoc Exon Structure GeneLoc location for GC20P029956: view genomic region
(about GC identifiers)
Start:
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29,956,421 bp from pter |
End:
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29,961,726 bp from pter |
Size:
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5,306 bases |
Orientation:
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plus strand |
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Proteins
for DEFB118 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
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
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
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 Q9NUH0Explore the universe of human proteins at neXtProt for DEFB118: NX_Q96PH6
DEFB118 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_473453.1
ENSEMBL proteins: ENSP00000253381 Reactome Protein details: Q96PH6
Human Recombinant Protein Products:
Gene Ontology (GO): 1 cellular component term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0005576 | extracellular region |
IEA | -- |
DEFB118 for ontologies About GeneDecksing
DEFB118 Antibody Products:
Assay Products for DEFB118: |
Protein
Domains /
Families
for DEFB118 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
DEFB118 for domains About GeneDecksing
1 InterPro domain/family:Graphical View of Domain Structure for InterPro Entry Q96PH6ProtoNet protein and cluster: Q96PH6 UniProtKB/Swiss-Prot: DB118_HUMAN, Q96PH6Similarity: Belongs to the beta-defensin family |
Function
for DEFB118 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
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,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: DB118_HUMAN, Q96PH6Function: Has antibacterial activity (Potential)
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for DEFB118 (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for DEFB118
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
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In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DEFB118 |
1 GenomeRNAi human phenotype for DEFB118:
|
Pathways & Interactions
for DEFB118 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
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 Mar 2013 via
Entrez Gene).
About This Section
|
Unified GeneCards pathways About this table
See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | Beta defensins | | | 2 | Immune System | |
Pathway sources
See GeneCards unified pathways
Show all pathways
5/6 
Reactome Pathways for DEFB118 (see all 6)
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
DEFB118 for ontologies About GeneDecksing
|
Drugs & Compounds
for DEFB118 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
 Browse Tocris compounds for DEFB118
Search CenterWatch for drugs/clinical trials and news about DEFB118 / DB118
|
Transcripts
for DEFB118 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 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,
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,
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: BC0356771 Ensembl transcript including schematic representation, and UCSC links where relevant: ENST00000253381(uc002wvr.3)
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for DEFB118 (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for DEFB118
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: DEFB118 (NM_054112) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for DEFB118 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DEFB118 |
Additional cDNA sequence: AF347073.1 AF529415.1 AY122471.1 BC035677.1 BC117378.1 1 DOTS entry: DT.40266824 3 AceView cDNA sequences: AA835052 BM554548 BC035677
GeneLoc Exon Structure
|
Expression
for DEFB118 gene
(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
CGAP TAG: ACTTCCTCTC
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, Q96PH6Tissue specificity: High-level and epididymis-specific expression. Most abundant in the epithelium of the caput and isalso present in the lumen and bound to sperm. Expressed also in pancreas
SABiosciences Custom PCR Arrays for DEFB118
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for DEFB118
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse / rat DEFB118 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat DEFB118 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat DEFB118 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DEFB118 |
Orthologs
for DEFB118 gene
(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 1/2 species (see all 2) 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
for DEFB118 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| -- |
Genomic Variants
for DEFB118 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, 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
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 20 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for DEFB118 (29956421 - 29961726 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for DEFB118: -- | SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing DEFB118 |
|
Disorders
/ Diseases
for DEFB118 gene
(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.)
About This Section
|
DEFB118 for disorders About GeneDecksing
OMIM gene information: 607650
OMIM disorders: --
5  diseases for DEFB118: About MalaCardsepididymitis hepatitis b meningioma hepatitis
leukemia
Human Genome Epidemiology (HuGE) Navigator: DEFB118 (6 documents)
Export disorders for DEFB118 gene to outside databases
|
Publications
for DEFB118 gene (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 |
- 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)
- 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)
- 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)
- ORFeome-based search of airway epithelial cell-specific novel human [beta]-defensin genes. (PubMed id 12600824)1, 2 Kao C.Y....Wu R. (2003)
- 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)
- The DNA sequence and comparative analysis of human chromosome 20. (PubMed id 11780052)1, 2 Deloukas P....Rogers J. (2001)
- New genetic associations detected in a host response study to hepatitis B vaccine. (PubMed id 20237496)1 Davila S....Seielstad M. (2010)
- Polymorphisms in innate immunity genes and risk of ch ildhood leukemia. (PubMed id 20438785)1 Han S....Kang D. (2010)
- Risk of meningioma and common variation in genes rela ted to innate immunity. (PubMed id 20406964)1 Rajaraman P....Inskip P.D. (2010)
- Common variation in genes related to innate immunity and risk of adult glioma. (PubMed id 19423540)1 Rajaraman P....Chanock S.J. (2009)
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External Searches for DEFB118 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing DEFB118 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing DEFB118 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing DEFB118 gene(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
|
| Name | Description |
| PharmGKB entry for DEFB118 | Pharmacogenomics, SNPs, Pathways |
|
| | |
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
|
Products
for DEFB118 gene(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, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, 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
About This Section
|
 | |
 | |
 |
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