DEFB4B Gene

HGNC Family	Defensins
Name	defensin, beta 4B
Description	Defensins form a family of microbicidal and cytotoxic peptides made by neutrophils. Members of the defensin family are highly similar in protein sequence. This gene encodes defensin, beta 4, an antibiotic peptide which is locally regulated by inflammation. [provided by RefSeq, Oct 2014]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n DEFB4B, which encodes the human β‐defensin 2 peptide, is a key antimicrobial and immunomodulatory effector at barrier sites such as the skin, airways, and gastrointestinal tract. It is rapidly induced in epithelial cells upon recognition of microbial products via pattern recognition receptors (for example, TLR2, TLR4, and NOD receptors) and is further up‐regulated by proinflammatory cytokines including interleukin‑17, interleukin‑22, interleukin‑1, and tumor necrosis factor–α. This cytokine–microbe crosstalk potentiates both the direct microbicidal activity of DEFB4B against a broad spectrum of pathogens (Gram‑negative and Gram‑positive bacteria) and its ability to modulate local immune responses by attracting and activating dendritic cells and other immune effectors. In several inflammatory conditions – notably psoriasis, where DEFB4B expression correlates with disease severity – its upregulation also serves as a biomarker for IL‑17–driven pathology. In addition, enhanced expression of DEFB4B has been linked to protective barrier functions in the airway and gastrointestinal epithelia, where it contributes not only to pathogen clearance but also to wound healing and the maintenance of mucosal integrity. Altered levels of DEFB4B have been associated with various disease states, including chronic inflammatory disorders and complications in pregnancy, emphasizing its role as a crucial bridge between innate antimicrobial defense and the orchestration of adaptive immune responses."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "19"}]}, {"type": "t", "text": "\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Arya Biragyn, Pier Adelchi Ruffini, Cynthia A Leifer, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Toll-like receptor 4-dependent activation of dendritic cells by beta-defensin 2."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Science (2002)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1126/science.1075565"}], "href": "https://doi.org/10.1126/science.1075565"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "12411706"}], "href": "https://pubmed.ncbi.nlm.nih.gov/12411706"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Stephan Brand, Florian Beigel, Torsten Olszak, et al. "}, {"type": "b", "children": [{"type": "t", "text": "IL-22 is increased in active Crohn's disease and promotes proinflammatory gene expression and intestinal epithelial cell migration."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Physiol Gastrointest Liver Physiol (2006)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1152/ajpgi.00513.2005"}], "href": "https://doi.org/10.1152/ajpgi.00513.2005"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "16537974"}], "href": "https://pubmed.ncbi.nlm.nih.gov/16537974"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Akiko Uehara, Yukari Fujimoto, Koichi Fukase, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Various human epithelial cells express functional Toll-like receptors, NOD1 and NOD2 to produce anti-microbial peptides, but not proinflammatory cytokines."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Immunol (2007)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.molimm.2007.02.007"}], "href": "https://doi.org/10.1016/j.molimm.2007.02.007"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17403538"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17403538"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Cheryl J Hertz, Qi Wu, Edith Martin Porter, et al. 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Synonyms	DEFB4P
NCBI Gene ID	100289462
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Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

DEFB4B has 1,250 functional associations with biological entities spanning 7 categories (molecular profile, functional term, phrase or reference, disease, phenotype or trait, chemical, structural feature, cell line, cell type or tissue, gene, protein or microRNA) extracted from 32 datasets.

Click the + buttons to view associations for DEFB4B from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

DEFB4B Gene

Functional Associations

Please acknowledge the Harmonizome in your publications by citing the following reference(s):

	Dataset	Summary
	Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles	tissue samples with high or low expression of DEFB4B gene relative to other tissue samples from the Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles dataset.
	CCLE Cell Line Gene CNV Profiles	cell lines with high or low copy number of DEFB4B gene relative to other cell lines from the CCLE Cell Line Gene CNV Profiles dataset.
	CM4AI KOLF21J CRISPRi Gene Perturbation Atlas	gene perturbations changing expression of DEFB4B gene from the CM4AI KOLF21J CRISPRi Gene Perturbation Atlas dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing DEFB4B protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025	cellular components co-occuring with DEFB4B 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 DEFB4B gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with DEFB4B gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores 2025	diseases co-occuring with DEFB4B gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
	DisGeNET Gene-Disease Associations	diseases associated with DEFB4B gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
	DisGeNET Gene-Phenotype Associations	phenotypes associated with DEFB4B gene in GWAS and other genetic association datasets from the DisGeNET Gene-Phenoptype Associations dataset.
	ENCODE Histone Modification Site Profiles	histone modification site profiles with high histone modification abundance at DEFB4B 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 DEFB4B gene from the ENCODE Transcription Factor Binding Site Profiles dataset.
	ENCODE Transcription Factor Targets	transcription factors binding the promoter of DEFB4B gene in ChIP-seq datasets from the ENCODE Transcription Factor Targets dataset.
	GeneRIF Biological Term Annotations	biological terms co-occuring with DEFB4B 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 DEFB4B from the GeneSigDB Published Gene Signatures dataset.
	GTEx Tissue Gene Expression Profiles	tissues with high or low expression of DEFB4B gene relative to other tissues from the GTEx Tissue Gene Expression Profiles dataset.
	InterPro Predicted Protein Domain Annotations	protein domains predicted for DEFB4B protein from the InterPro Predicted Protein Domain Annotations dataset.
	JASPAR Predicted Human Transcription Factor Targets 2025	transcription factors regulating expression of DEFB4B 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 DEFB4B gene predicted using known transcription factor binding site motifs from the JASPAR Predicted Mouse Transcription Factor Targets 2025 dataset.
	KEGG Pathways 2026	pathways involving DEFB4B protein from the KEGG Pathways 2026 dataset.
	Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles	cell lines with high or low copy number of DEFB4B gene relative to other cell lines from the Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles dataset.
	MGI Mouse Phenotype Associations 2023	phenotypes of transgenic mice caused by DEFB4B gene mutations from the MGI Mouse Phenotype Associations 2023 dataset.
	MiRTarBase microRNA Targets	microRNAs targeting DEFB4B gene in low- or high-throughput microRNA targeting studies from the MiRTarBase microRNA Targets dataset.
	PFOCR Pathway Figure Associations 2023	pathways involving DEFB4B protein from the PFOCR Pathway Figure Associations 2023 dataset.
	PFOCR Pathway Figure Associations 2024	pathways involving DEFB4B protein from the Wikipathways PFOCR 2024 dataset.
	Rummagene Transcription Factor Associations 2026	transcription factors regulating expression of DEFB4B gene from the Rummagene Transcription Factor Associations 2026 dataset.
	RummaGEO Drug Perturbation Signatures	drug perturbations changing expression of DEFB4B gene from the RummaGEO Drug Perturbation Signatures dataset.
	RummaGEO Gene Perturbation Signatures	gene perturbations changing expression of DEFB4B gene from the RummaGEO Gene Perturbation Signatures dataset.
	TargetScan Predicted Nonconserved microRNA Targets	microRNAs regulating expression of DEFB4B gene predicted using nonconserved miRNA seed sequences from the TargetScan Predicted Nonconserved microRNA Targets dataset.
	TISSUES Curated Tissue Protein Expression Evidence Scores 2025	tissues with high expression of DEFB4B protein from the TISSUES Curated Tissue Protein Expression Evidence Scores 2025 dataset.
	TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025	tissues co-occuring with DEFB4B protein in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset.
	WikiPathways Pathways 2024	pathways involving DEFB4B protein from the WikiPathways Pathways 2024 dataset.