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Aliases for DEFB118 Gene

Aliases for DEFB118 Gene

  • Defensin, Beta 118 2 3 4
  • C20orf63 3 4 6
  • ESC42 3 4 6
  • Epididymal Secretory Protein 13.6 3 4
  • DEFB-18 3 4
  • ESP13.6 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. Diseases associated with DEFB118 include childhood leukemia. Among its related pathways are Defensins 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

Genomic Location for DEFB118 Gene

31,368,618 bp from pter
31,373,923 bp from pter
5,306 bases
Plus strand

Genomic View for DEFB118 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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:
    Recommended name:
    Beta-defensin 118
    Protein Accession:
    Secondary Accessions:
    • Q17RC4
    • Q8N691
    • Q9NUH0

    Protein attributes for DEFB118 Gene

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

neXtProt entry for DEFB118 Gene

Proteomics data for DEFB118 Gene at MOPED

Post-translational modifications for DEFB118 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for DEFB118 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for DEFB118 Gene

Domains for DEFB118 Gene

Gene Families for DEFB118 Gene

  • DEFB :Defensins, beta

Protein Domains for DEFB118 Gene


Suggested Antigen Peptide Sequences for DEFB118 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Q96PH6
  • 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.

Phenotypes for DEFB118 Gene

GenomeRNAi human phenotypes for DEFB118:
genes like me logo Genes that share phenotypes with DEFB118: view

miRNA for DEFB118 Gene

miRTarBase miRNAs that target DEFB118

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for DEFB118

In Situ Assay Products

Flow Cytometry Products

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

Localization for DEFB118 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DEFB118 Gene


Subcellular locations from

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 for DEFB118 Gene

SuperPathways for DEFB118 Gene

Superpath Contained pathways
1 Defensins
genes like me logo Genes that share pathways with DEFB118: view

Pathways by source for DEFB118 Gene

2 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: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

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:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for DEFB118

Primer Products

  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

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
ECgene alternative splicing isoforms for

Expression for DEFB118 Gene

mRNA expression in normal human tissues for DEFB118 Gene

SOURCE GeneReport for Unigene cluster for DEFB118 Gene Hs.274124

mRNA Expression by UniProt/SwissProt for DEFB118 Gene

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 expressions with DEFB118: view

In Situ Assay 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 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
(Pan troglodytes)
Mammalia DEFB118 35
  • 98.64 (n)
  • 97.56 (a)
DEFB118 36
  • 98 (a)
(Mus musculus)
Mammalia Defb21 16
Defb21 36
  • 35 (a)
Species with no ortholog for DEFB118:
  • 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

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

Paralogs for DEFB118 Gene

Selected SIMAP similar genes for DEFB118 Gene using alignment to 1 proteins:

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 MAF
rs760997 -- 31,369,643(-) GGAGA(C/T)CGAGG intron-variant
rs4911265 -- 31,374,147(+) TCTGG(A/T)GCTAG downstream-variant-500B
rs6057649 -- 31,372,655(+) TTGAT(A/C)GTAAG intron-variant
rs6058898 -- 31,372,729(+) GAGGT(G/T)GGAGT intron-variant
rs6058903 -- 31,374,032(+) CCAGC(A/G)TTCAT downstream-variant-500B

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

Variant ID Type Subtype PubMed ID
nsv470546 CNV Gain 18288195
nsv458961 CNV Gain 19166990
nsv912835 CNV Gain 21882294

Relevant External Links for DEFB118 Gene

HapMap Linkage Disequilibrium report

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

Disorders for DEFB118 Gene

MalaCards: The human disease database

MalaCards: The human disease database.

Search for DEFB118 Gene in MalaCards »

(1) Diseases for DEFB118 Gene including...

Relevant External Links for DEFB118

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
genes like me logo Genes that share disorders with DEFB118: view

No data available for OMIM , UniProtKB/Swiss-Prot , University of Copenhagen DISEASES , Novoseek inferred disease relationships 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 23
  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 23
  3. The DNA sequence and comparative analysis of human chromosome 20. (PMID: 11780052) Deloukas P. … Rogers J. (Nature 2001) 3 4
  4. Discovery of five conserved beta-defensin gene clusters using a computational search strategy. (PMID: 11854508) Schutte B.C. … McCray P.B. Jr. (Proc. Natl. Acad. Sci. U.S.A. 2002) 3 4
  5. ORFeome-based search of airway epithelial cell-specific novel human beta-defensin genes. (PMID: 12600824) Kao C.Y. … Wu R. (Am. J. Respir. Cell Mol. Biol. 2003) 3 4

Products for DEFB118 Gene

Sources for DEFB118 Gene

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