DEFB118 Gene

HGNC Family Defensins
Name defensin, beta 118
Description 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]
Summary
{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n Human beta‐defensin 118 (DEFB118) is an antimicrobial peptide that is predominantly expressed in the male reproductive tract—especially in the epididymis—where it not only associates with sperm but also contributes to innate immunity. Early studies identified DEFB118 (formerly ESC42) as a sperm‐binding protein with potent, dose‐, time‐, and structure‐dependent antibacterial activity mediated by rapid membrane permeabilization of bacteria (see."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": " Subsequent work confirmed that DEFB118 possesses strong lipopolysaccharide (LPS)–binding capabilities, reinforcing its role in antimicrobial defense."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "3"}]}, {"type": "t", "text": " In addition to its bactericidal action, DEFB118 exerts notable anti‐inflammatory effects; both in vitro and in vivo investigations using intestinal and epithelial cell models have shown that DEFB118 alleviates pathogen‐induced inflammation by downregulating NF‐κB signaling and reducing the production of pro‐inflammatory cytokines, thereby preserving epithelial barrier integrity."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "4"}]}, {"type": "t", "text": " Moreover, DEFB118 expression is inducible by fungal components in oral cells, and recombinant DEFB118 has demonstrated antifungal activity against Candida albicans."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "6"}]}, {"type": "t", "text": " Altered DEFB118 expression has also been observed in the context of gastric cancer, suggesting additional potential clinical implications."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "7"}]}, {"type": "t", "text": " Collectively, these findings highlight DEFB118 as a multifunctional agent that bridges roles in both reproductive physiology and mucosal innate immunity, with promising therapeutic potential as an antibacterial and anti‐inflammatory molecule.\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Suresh Yenugu, Katherine G Hamil, Yashwanth Radhakrishnan, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The androgen-regulated epididymal sperm-binding protein, human beta-defensin 118 (DEFB118) (formerly ESC42), is an antimicrobial beta-defensin."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Endocrinology (2004)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1210/en.2003-1698"}], "href": "https://doi.org/10.1210/en.2003-1698"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "15033915"}], "href": "https://pubmed.ncbi.nlm.nih.gov/15033915"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Xiao-Fang Shen, Jian-Yuan Li, Hai-Yan Wang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "[Expression and biology identification of the human epididymis-specific gene ESC42 in E. coli]."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Zhonghua Nan Ke Xue (2005)"}]}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "15755028"}], "href": "https://pubmed.ncbi.nlm.nih.gov/15755028"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Jing Hou, Hai-Yan Liu, Hua Diao, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The truncated human beta-defensin 118 can modulate lipopolysaccharide mediated inflammatory response in RAW264.7 macrophages."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Peptides (2021)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.peptides.2020.170438"}], "href": "https://doi.org/10.1016/j.peptides.2020.170438"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "33181266"}], "href": "https://pubmed.ncbi.nlm.nih.gov/33181266"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Qian Lin, Qingqing Fu, Xiang Li, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Human β-Defensin 118 Attenuates Escherichia coli K88-Induced Inflammation and Intestinal Injury in Mice."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Probiotics Antimicrob Proteins (2021)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/s12602-020-09725-9"}], "href": "https://doi.org/10.1007/s12602-020-09725-9"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "33185791"}], "href": "https://pubmed.ncbi.nlm.nih.gov/33185791"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Qingqing Fu, Qian Lin, Daiwen Chen, et al. "}, {"type": "b", "children": [{"type": "t", "text": "β-defensin 118 attenuates inflammation and injury of intestinal epithelial cells upon enterotoxigenic Escherichia coli challenge."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "BMC Vet Res (2022)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1186/s12917-022-03242-3"}], "href": "https://doi.org/10.1186/s12917-022-03242-3"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "35440001"}], "href": "https://pubmed.ncbi.nlm.nih.gov/35440001"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Miyuki Sakuma, Kouji Ohta, Shohei Fukada, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Expression of anti-fungal peptide, β-defensin 118 in oral fibroblasts induced by C. albicans β-glucan-containing particles."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Appl Oral Sci (2022)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1590/1678-7757-2021-0321"}], "href": "https://doi.org/10.1590/1678-7757-2021-0321"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "35507985"}], "href": "https://pubmed.ncbi.nlm.nih.gov/35507985"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Georgios D Lianos, Georgios K Glantzounis, Christina D Bali, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Identification of novel genes by whole-exome sequencing can improve gastric cancer precision oncology."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Future Oncol (2017)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.2217/fon-2016-0430"}], "href": "https://doi.org/10.2217/fon-2016-0430"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "27897040"}], "href": "https://pubmed.ncbi.nlm.nih.gov/27897040"}]}]}]}
Synonyms ESP13.6, DEFB-18, ESC42, C20ORF63
Proteins DB118_HUMAN
NCBI Gene ID 117285
API
Download Associations
Predicted Functions View DEFB118's ARCHS4 Predicted Functions.
Co-expressed Genes View DEFB118's ARCHS4 Predicted Functions.
Expression in Tissues and Cell Lines View DEFB118's ARCHS4 Predicted Functions.

Functional Associations

DEFB118 has 1,115 functional associations with biological entities spanning 8 categories (molecular profile, organism, functional term, phrase or reference, disease, phenotype or trait, chemical, structural feature, cell line, cell type or tissue, gene, protein or microRNA) extracted from 62 datasets.

Click the + buttons to view associations for DEFB118 from the datasets below.

If available, associations are ranked by standardized value

Dataset Summary
Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles tissues with high or low expression of DEFB118 gene relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset.
Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles tissue samples with high or low expression of DEFB118 gene relative to other tissue samples from the Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles dataset.
Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray tissue samples with high or low expression of DEFB118 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray dataset.
Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles tissues with high or low expression of DEFB118 gene relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.
BioGPS Human Cell Type and Tissue Gene Expression Profiles cell types and tissues with high or low expression of DEFB118 gene relative to other cell types and tissues from the BioGPS Human Cell Type and Tissue Gene Expression Profiles dataset.
CCLE Cell Line Gene CNV Profiles cell lines with high or low copy number of DEFB118 gene relative to other cell lines from the CCLE Cell Line Gene CNV Profiles dataset.
CCLE Cell Line Gene Expression Profiles cell lines with high or low expression of DEFB118 gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
ChEA Transcription Factor Binding Site Profiles transcription factor binding site profiles with transcription factor binding evidence at the promoter of DEFB118 gene from the CHEA Transcription Factor Binding Site Profiles dataset.
ChEA Transcription Factor Targets transcription factors binding the promoter of DEFB118 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets dataset.
ChEA Transcription Factor Targets 2022 transcription factors binding the promoter of DEFB118 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset.
CM4AI KOLF21J CRISPRi Gene Perturbation Atlas gene perturbations changing expression of DEFB118 gene from the CM4AI KOLF21J CRISPRi Gene Perturbation Atlas dataset.
COMPARTMENTS Curated Protein Localization Evidence Scores cellular components containing DEFB118 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 cellular components co-occuring with DEFB118 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
COSMIC Cell Line Gene CNV Profiles cell lines with high or low copy number of DEFB118 gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
COSMIC Cell Line Gene Mutation Profiles cell lines with DEFB118 gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
DepMap CRISPR Gene Dependency cell lines with fitness changed by DEFB118 gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
DISEASES Experimental Gene-Disease Association Evidence Scores 2025 diseases associated with DEFB118 gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset.
DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 diseases co-occuring with DEFB118 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
ENCODE Histone Modification Site Profiles histone modification site profiles with high histone modification abundance at DEFB118 gene from the ENCODE Histone Modification Site Profiles dataset.
ENCODE Transcription Factor Binding Site Profiles transcription factor binding site profiles with transcription factor binding evidence at the promoter of DEFB118 gene from the ENCODE Transcription Factor Binding Site Profiles dataset.
ENCODE Transcription Factor Targets transcription factors binding the promoter of DEFB118 gene in ChIP-seq datasets from the ENCODE Transcription Factor Targets dataset.
GAD High Level Gene-Disease Associations diseases associated with DEFB118 gene in GWAS and other genetic association datasets from the GAD High Level Gene-Disease Associations dataset.
GeneRIF Biological Term Annotations biological terms co-occuring with DEFB118 gene in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.
GeneSigDB Published Gene Signatures PubMedIDs of publications reporting gene signatures containing DEFB118 from the GeneSigDB Published Gene Signatures dataset.
GEO Signatures of Differentially Expressed Genes for Diseases disease perturbations changing expression of DEFB118 gene from the GEO Signatures of Differentially Expressed Genes for Diseases dataset.
GEO Signatures of Differentially Expressed Genes for Gene Perturbations gene perturbations changing expression of DEFB118 gene from the GEO Signatures of Differentially Expressed Genes for Gene Perturbations dataset.
GEO Signatures of Differentially Expressed Genes for Kinase Perturbations kinase perturbations changing expression of DEFB118 gene from the GEO Signatures of Differentially Expressed Genes for Kinase Perturbations dataset.
GEO Signatures of Differentially Expressed Genes for Transcription Factor Perturbations transcription factor perturbations changing expression of DEFB118 gene from the GEO Signatures of Differentially Expressed Genes for Transcription Factor Perturbations dataset.
GEO Signatures of Differentially Expressed Genes for Viral Infections virus perturbations changing expression of DEFB118 gene from the GEO Signatures of Differentially Expressed Genes for Viral Infections dataset.
GO Biological Process Annotations 2015 biological processes involving DEFB118 gene from the curated GO Biological Process Annotations 2015 dataset.
GO Biological Process Annotations 2023 biological processes involving DEFB118 gene from the curated GO Biological Process Annotations 2023 dataset.
GO Biological Process Annotations 2025 biological processes involving DEFB118 gene from the curated GO Biological Process Annotations2025 dataset.
GO Cellular Component Annotations 2015 cellular components containing DEFB118 protein from the curated GO Cellular Component Annotations 2015 dataset.
GTEx Tissue Gene Expression Profiles 2023 tissues with high or low expression of DEFB118 gene relative to other tissues from the GTEx Tissue Gene Expression Profiles 2023 dataset.
GWAS Catalog SNP-Phenotype Associations 2025 phenotypes associated with DEFB118 gene in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.
Heiser et al., PNAS, 2011 Cell Line Gene Expression Profiles cell lines with high or low expression of DEFB118 gene relative to other cell lines from the Heiser et al., PNAS, 2011 Cell Line Gene Expression Profiles dataset.
HPA Tissue Protein Expression Profiles tissues with high or low expression of DEFB118 protein relative to other tissues from the HPA Tissue Protein Expression Profiles dataset.
HuGE Navigator Gene-Phenotype Associations phenotypes associated with DEFB118 gene by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.
InterPro Predicted Protein Domain Annotations protein domains predicted for DEFB118 protein from the InterPro Predicted Protein Domain Annotations dataset.
JASPAR Predicted Human Transcription Factor Targets 2025 transcription factors regulating expression of DEFB118 gene predicted using known transcription factor binding site motifs from the JASPAR Predicted Human Transcription Factor Targets dataset.
JASPAR Predicted Mouse Transcription Factor Targets 2025 transcription factors regulating expression of DEFB118 gene predicted using known transcription factor binding site motifs from the JASPAR Predicted Mouse Transcription Factor Targets 2025 dataset.
JASPAR Predicted Transcription Factor Targets transcription factors regulating expression of DEFB118 gene predicted using known transcription factor binding site motifs from the JASPAR Predicted Transcription Factor Targets dataset.
Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles cell lines with high or low copy number of DEFB118 gene relative to other cell lines from the Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles dataset.
KnockTF Gene Expression Profiles with Transcription Factor Perturbations transcription factor perturbations changing expression of DEFB118 gene from the KnockTF Gene Expression Profiles with Transcription Factor Perturbations dataset.
LOCATE Curated Protein Localization Annotations cellular components containing DEFB118 protein in low- or high-throughput protein localization assays from the LOCATE Curated Protein Localization Annotations dataset.
LOCATE Predicted Protein Localization Annotations cellular components predicted to contain DEFB118 protein from the LOCATE Predicted Protein Localization Annotations dataset.
MiRTarBase microRNA Targets microRNAs targeting DEFB118 gene in low- or high-throughput microRNA targeting studies from the MiRTarBase microRNA Targets dataset.
MotifMap Predicted Transcription Factor Targets transcription factors regulating expression of DEFB118 gene predicted using known transcription factor binding site motifs from the MotifMap Predicted Transcription Factor Targets dataset.
NIBR DRUG-seq U2OS MoA Box Gene Expression Profiles drug perturbations changing expression of DEFB118 gene from the NIBR DRUG-seq U2OS MoA Box dataset.
Reactome Pathways 2014 pathways involving DEFB118 protein from the Reactome Pathways dataset.
Reactome Pathways 2024 pathways involving DEFB118 protein from the Reactome Pathways 2024 dataset.
Roadmap Epigenomics Histone Modification Site Profiles histone modification site profiles with high histone modification abundance at DEFB118 gene from the Roadmap Epigenomics Histone Modification Site Profiles dataset.
Rummagene Transcription Factor Associations 2026 transcription factors regulating expression of DEFB118 gene from the Rummagene Transcription Factor Associations 2026 dataset.
Tabula Sapiens Gene-Cell Associations cell types with high or low expression of DEFB118 gene relative to other cell types from the Tabula Sapiens Gene-Cell Associations dataset.
TargetScan Predicted Conserved microRNA Targets microRNAs regulating expression of DEFB118 gene predicted using conserved miRNA seed sequences from the TargetScan Predicted Conserved microRNA Targets dataset.
TargetScan Predicted Nonconserved microRNA Targets microRNAs regulating expression of DEFB118 gene predicted using nonconserved miRNA seed sequences from the TargetScan Predicted Nonconserved microRNA Targets dataset.
TCGA Signatures of Differentially Expressed Genes for Tumors tissue samples with high or low expression of DEFB118 gene relative to other tissue samples from the TCGA Signatures of Differentially Expressed Genes for Tumors dataset.
TISSUES Curated Tissue Protein Expression Evidence Scores tissues with high expression of DEFB118 protein from the TISSUES Curated Tissue Protein Expression Evidence Scores dataset.
TISSUES Curated Tissue Protein Expression Evidence Scores 2025 tissues with high expression of DEFB118 protein from the TISSUES Curated Tissue Protein Expression Evidence Scores 2025 dataset.
TISSUES Experimental Tissue Protein Expression Evidence Scores 2025 tissues with high expression of DEFB118 protein in proteomics datasets from the TISSUES Experimental Tissue Protein Expression Evidence Scores 2025 dataset.
TISSUES Text-mining Tissue Protein Expression Evidence Scores tissues co-occuring with DEFB118 protein in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset.
TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 tissues co-occuring with DEFB118 protein in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset.