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Aliases for DEFB118 Gene

Aliases for DEFB118 Gene

  • Defensin Beta 118 2 3 5
  • Epididymal Secretory Protein 13.6 3 4
  • Defensin, Beta 118 2 4
  • C20orf63 3 4
  • DEFB-18 3 4
  • ESP13.6 3 4
  • ESC42 3 4
  • Chromosome 20 Open Reading Frame 63 2
  • Epididymus Specific Clone 42 3
  • Beta-Defensin 118 3
  • Defensin, Beta 18 3
  • Beta-Defensin 18 4
  • DEFB18 4

External Ids for DEFB118 Gene

Previous HGNC Symbols for DEFB118 Gene

  • C20orf63

Previous GeneCards Identifiers for DEFB118 Gene

  • GC20P029744
  • GC20P030654
  • GC20P030701
  • GC20P029420
  • GC20P029956
  • GC20P026745

Summaries for DEFB118 Gene

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 against E. coli. This gene is found in a cluster with other beta-defensin genes on the long arm of chromosome 20. [provided by RefSeq, Nov 2014]

GeneCards Summary for DEFB118 Gene

DEFB118 (Defensin Beta 118) is a Protein Coding gene. Among its related pathways are Immune System and Defensins.

UniProtKB/Swiss-Prot for DEFB118 Gene

  • Has antibacterial activity.

Gene Wiki entry for DEFB118 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DEFB118 Gene

Genomics for DEFB118 Gene

Regulatory Elements for DEFB118 Gene

Enhancers for DEFB118 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH20F031513 0.7 FANTOM5 ENCODE 16.2 +147.4 147365 4.3 HDGF CREB3L1 MLX WRNIP1 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143 HM13 DEFB124 DEFB123 DEFB122 DEFB121 DEFB118 RNU1-94P REM1 PDRG1 ENSG00000274364
GH20F031661 1.3 FANTOM5 Ensembl ENCODE 16.2 +297.9 297853 10.6 HDGF PKNOX1 MLX ZFP64 ARID4B SIN3A FEZF1 DMAP1 SLC30A9 ZNF143 DEFB123 RNU1-94P DEFB122 DEFB121 DEFB118 PDRG1 HM13 COX4I2 TTLL9 MYLK2
GH20F031709 1.4 FANTOM5 Ensembl ENCODE 16.2 +348.6 348571 14.7 MLX ZFP64 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 NFYC TBX21 MYLK2 COX4I2 DEFB121 RNU1-94P DEFB122 DEFB123 DEFB118 REM1 LOC105372589 ID1
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around DEFB118 on UCSC Golden Path with GeneCards custom track

Genomic Location for DEFB118 Gene

Chromosome:
20
Start:
31,368,618 bp from pter
End:
31,373,923 bp from pter
Size:
5,306 bases
Orientation:
Plus strand

Genomic View for DEFB118 Gene

Genes around DEFB118 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DEFB118 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DEFB118 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DEFB118 Gene

Proteins for DEFB118 Gene

  • Protein details for DEFB118 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96PH6-DB118_HUMAN
    Recommended name:
    Beta-defensin 118
    Protein Accession:
    Q96PH6
    Secondary Accessions:
    • Q17RC4
    • Q8N691
    • Q9NUH0

    Protein attributes for DEFB118 Gene

    Size:
    123 amino acids
    Molecular mass:
    13614 Da
    Quaternary structure:
    No Data Available

neXtProt entry for DEFB118 Gene

Post-translational modifications for DEFB118 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for DEFB118 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for DEFB118 Gene

Domains & Families for DEFB118 Gene

Gene Families for DEFB118 Gene

Protein Domains for DEFB118 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for DEFB118 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q96PH6

UniProtKB/Swiss-Prot:

DB118_HUMAN :
  • Belongs to the beta-defensin family.
Family:
  • Belongs to the beta-defensin family.
genes like me logo Genes that share domains with DEFB118: view

Function for DEFB118 Gene

Molecular function for DEFB118 Gene

UniProtKB/Swiss-Prot Function:
Has antibacterial activity.
genes like me logo Genes that share phenotypes with DEFB118: view

Animal Model Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for DEFB118 Gene

Localization for DEFB118 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DEFB118 Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for DEFB118 Gene COMPARTMENTS Subcellular localization image for DEFB118 gene
Compartment Confidence
extracellular 5

Gene Ontology (GO) - Cellular Components for DEFB118 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0009986 cell surface IBA --
genes like me logo Genes that share ontologies with DEFB118: view

Pathways & Interactions for DEFB118 Gene

SuperPathways for DEFB118 Gene

SuperPathway Contained pathways
1 Defensins
.83
2 Immune System
genes like me logo Genes that share pathways with DEFB118: view

Pathways by source for DEFB118 Gene

4 Reactome pathways for DEFB118 Gene

Interacting Proteins for DEFB118 Gene

Gene Ontology (GO) - Biological Process for DEFB118 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006952 defense response IEA --
GO:0007160 cell-matrix adhesion NAS 11564719
GO:0007283 spermatogenesis NAS 11564719
GO:0042742 defense response to bacterium TAS 10588992
GO:0045087 innate immune response TAS 10588992
genes like me logo Genes that share ontologies with DEFB118: view

No data available for SIGNOR curated interactions for DEFB118 Gene

Transcripts for DEFB118 Gene

mRNA/cDNA for DEFB118 Gene

(1) REFSEQ mRNAs :
(5) Additional mRNA sequences :
(3) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for DEFB118 Gene

Defensin, beta 118:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for DEFB118 Gene

No ASD Table

Relevant External Links for DEFB118 Gene

GeneLoc Exon Structure for
DEFB118
ECgene alternative splicing isoforms for
DEFB118

Expression for DEFB118 Gene

mRNA expression in normal human tissues for DEFB118 Gene

NURSA nuclear receptor signaling pathways regulating expression of DEFB118 Gene:

DEFB118

SOURCE GeneReport for Unigene cluster for DEFB118 Gene:

Hs.274124

mRNA Expression by UniProt/SwissProt for DEFB118 Gene:

Q96PH6-DB118_HUMAN
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.
genes like me logo Genes that share expression patterns with DEFB118: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression and Protein tissue co-expression partners for DEFB118 Gene

Orthologs for DEFB118 Gene

This gene was present in the common ancestor of human and mouse.

Orthologs for DEFB118 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DEFB118 34 35
  • 98.64 (n)
mouse
(Mus musculus)
Mammalia Defb21 35
  • 35 (a)
OneToOne
Species where no ortholog for DEFB118 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • cow (Bos Taurus)
  • dog (Canis familiaris)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for DEFB118 Gene

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

Paralogs for DEFB118 Gene

(6) SIMAP similar genes for DEFB118 Gene using alignment to 1 proteins:

Pseudogenes.org Pseudogenes for DEFB118 Gene

genes like me logo Genes that share paralogs with DEFB118: view

No data available for Paralogs for DEFB118 Gene

Variants for DEFB118 Gene

Sequence variations from dbSNP and Humsavar for DEFB118 Gene

SNP ID Clin Chr 20 pos Sequence Context AA Info Type
rs111350253 -- 31,368,170(+) TTTCC(A/C)CAAAC upstream-variant-2KB
rs111581297 -- 31,373,005(+) ACATC(C/T)CCCAC reference, synonymous-codon
rs11167178 -- 31,367,847(+) TTTTT(-/T)GAGAC upstream-variant-2KB
rs112073694 -- 31,369,939(+) AATAA(C/G)CAAGT intron-variant
rs112114112 -- 31,370,292(+) TTCTT(-/CAGTTA)CAATT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for DEFB118 Gene

Variant ID Type Subtype PubMed ID
dgv4298n100 CNV gain 25217958
dgv4299n100 CNV gain 25217958
dgv4300n100 CNV gain 25217958
esv2763228 CNV gain 21179565
esv3645644 CNV loss 21293372
esv3645645 CNV gain 21293372
esv3645647 CNV gain 21293372
nsv1060041 CNV gain 25217958
nsv458961 CNV gain 19166990
nsv470546 CNV gain 18288195
nsv585910 CNV gain 21841781
nsv585911 CNV gain 21841781

Variation tolerance for DEFB118 Gene

Residual Variation Intolerance Score: 75.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.91; 18.90% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for DEFB118 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
DEFB118

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DEFB118 Gene

Disorders for DEFB118 Gene

Relevant External Links for DEFB118

Genetic Association Database (GAD)
DEFB118
Human Genome Epidemiology (HuGE) Navigator
DEFB118
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DEFB118

No disorders were found for DEFB118 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for DEFB118 Gene

Publications for DEFB118 Gene

  1. Primate epididymis-specific proteins: characterization of ESC42, a novel protein containing a trefoil-like motif in monkey and human. (PMID: 11564719) Liu Q. … Hall S.H. (Endocrinology 2001) 2 3 4 22 64
  2. The androgen-regulated epididymal sperm-binding protein, human beta-defensin 118 (DEFB118) (formerly ESC42), is an antimicrobial beta-defensin. (PMID: 15033915) Yenugu S. … Hall S.H. (Endocrinology 2004) 2 3 22 64
  3. Risk of meningioma and common variation in genes related to innate immunity. (PMID: 20406964) Rajaraman P. … Inskip P.D. (Cancer Epidemiol. Biomarkers Prev. 2010) 3 46 64
  4. Polymorphisms in innate immunity genes and risk of childhood leukemia. (PMID: 20438785) Han S. … Kang D. (Hum. Immunol. 2010) 3 46 64
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64

Products for DEFB118 Gene

Sources for DEFB118 Gene

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