| HGNC Family | Defensins |
| Name | defensin, beta 104B |
| Description | Defensins form a family of antimicrobial and cytotoxic peptides made by neutrophils. Defensins are short, processed peptide molecules that are classified by structure into three groups: alpha-defensins, beta-defensins and theta-defensins. All beta-defensin genes are densely clustered in four to five syntenic chromosomal regions. Chromosome 8p23 contains at least two copies of the duplicated beta-defensin cluster. This duplication results in two identical copies of defensin, beta 104, DEFB104A and DEFB104B, in head-to-head orientation. This gene, DEFB104B, represents the more telomeric copy. [provided by RefSeq, Oct 2014] |
| Summary |
{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n DEFB104B, which encodes human beta‐defensin 4 (hBD4), is a multifunctional antimicrobial peptide that plays a key role in innate host defense and tissue homeostasis. hBD4 exerts salt‐sensitive antimicrobial activity against bacteria such as Pseudomonas aeruginosa and is produced by various epithelial cells, notably in the lung where it reinforces barrier protection and defends against respiratory pathogens."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": " In articular tissues, hBD4 expression is markedly upregulated in osteoarthritis, suggesting that it not only provides a direct antimicrobial barrier but also participates in modulating inflammatory responses and promoting tissue remodeling."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "2"}]}, {"type": "t", "text": " Similarly, in the oral cavity, differential expression of hBD4 in gingival tissues supports its distinct role in maintaining local antimicrobial defense."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "3"}]}, {"type": "t", "text": ""}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n Moreover, hBD4 is expressed in dental pulp stem cells where it modulates inflammatory factor production and exerts antimicrobial effects that could be harnessed for tissue regeneration and reparative therapies."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "4"}]}, {"type": "t", "text": " In injured skin, such as in burn patients, altered hBD4 expression in dermal fibroblasts and keratinocytes further underscores its dual function as an endogenous antimicrobial effector and a marker of tissue injury and repair."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "5"}]}, {"type": "t", "text": " In addition, genetic studies have linked variations in DEFB104B—including copy number differences and specific haplotypes—to altered susceptibility to infectious conditions (for example, HIV) and to risks for pathologies such as prostate cancer, thereby highlighting an immunomodulatory and possibly protective role in broader disease contexts."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "6"}]}, {"type": "t", "text": "\n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n Collectively, these findings indicate that DEFB104B/hBD4 is a critical component of the innate immune system, functioning not only as a direct antimicrobial agent across diverse epithelial surfaces but also as a modulator of inflammation and tissue repair, with its genetic variability influencing disease susceptibility.\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Shigehisa Yanagi, Jun-ichi Ashitani, Hiroshi Ishimoto, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Isolation of human beta-defensin-4 in lung tissue and its increase in lower respiratory tract infection."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Respir Res (2005)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1186/1465-9921-6-130"}], "href": "https://doi.org/10.1186/1465-9921-6-130"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "16269090"}], "href": "https://pubmed.ncbi.nlm.nih.gov/16269090"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Giuseppe Musumeci, Maria Luisa Carnazza, Rosalia Leonardi, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Expression of β-defensin-4 in \"an in vivo and ex vivo model\" of human osteoarthritic knee meniscus."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Knee Surg Sports Traumatol Arthrosc (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/s00167-011-1630-x"}], "href": "https://doi.org/10.1007/s00167-011-1630-x"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "21879330"}], "href": "https://pubmed.ncbi.nlm.nih.gov/21879330"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Xinyi Li, Dingyu Duan, Jingmei Yang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The expression of human β-defensins (hBD-1, hBD-2, hBD-3, hBD-4) in gingival epithelia."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Arch Oral Biol (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.archoralbio.2016.01.012"}], "href": "https://doi.org/10.1016/j.archoralbio.2016.01.012"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "26874342"}], "href": "https://pubmed.ncbi.nlm.nih.gov/26874342"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Yue Zhai, Yuanyuan Wang, Nanquan Rao, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Activation and Biological Properties of Human β Defensin 4 in Stem Cells Derived From Human Exfoliated Deciduous Teeth."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Front Physiol (2019)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.3389/fphys.2019.01304"}], "href": "https://doi.org/10.3389/fphys.2019.01304"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "31695620"}], "href": "https://pubmed.ncbi.nlm.nih.gov/31695620"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Silvana Aparecida Alves Corrêa de Noronha, Samuel Marcos Ribeiro de Noronha, Larissa Elias Lanziani, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Human beta defensin-4 and keratinocyte growth factor gene expression in cultured keratinocyte and fibroblasts of burned patients."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Acta Cir Bras (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1590/s0102-86502014001700008"}], "href": "https://doi.org/10.1590/s0102-86502014001700008"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "25351155"}], "href": "https://pubmed.ncbi.nlm.nih.gov/25351155"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Michele Milanese, Ludovica Segat, Luiz C Arraes, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Copy number variation of defensin genes and HIV infection in Brazilian children."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Acquir Immune Defic Syndr (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1097/QAI.0b013e3181945f39"}], "href": "https://doi.org/10.1097/QAI.0b013e3181945f39"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19194307"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19194307"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Klaus Huse, Stefan Taudien, Marco Groth, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Genetic variants of the copy number polymorphic beta-defensin locus are associated with sporadic prostate cancer."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Tumour Biol (2008)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1159/000135688"}], "href": "https://doi.org/10.1159/000135688"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "18515986"}], "href": "https://pubmed.ncbi.nlm.nih.gov/18515986"}]}]}]}
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| Synonyms | BD-4 |
| NCBI Gene ID | 503618 |
| API | |
| Download Associations | |
| Predicted Functions |
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| Co-expressed Genes |
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| Expression in Tissues and Cell Lines |
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DEFB104B has 896 functional associations with biological entities spanning 6 categories (molecular profile, functional term, phrase or reference, disease, phenotype or trait, chemical, cell line, cell type or tissue, gene, protein or microRNA) extracted from 32 datasets.
Click the + buttons to view associations for DEFB104B from the datasets below.
If available, associations are ranked by standardized value
| Dataset | Summary | |
|---|---|---|
| Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles | tissue samples with high or low expression of DEFB104B gene relative to other tissue samples from the Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles dataset. | |
| ChEA Transcription Factor Targets 2022 | transcription factors binding the promoter of DEFB104B 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 DEFB104B gene from the CM4AI KOLF21J CRISPRi Gene Perturbation Atlas dataset. | |
| COMPARTMENTS Curated Protein Localization Evidence Scores | cellular components containing DEFB104B protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset. | |
| COMPARTMENTS Curated Protein Localization Evidence Scores 2025 | cellular components containing DEFB104B protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset. | |
| COMPARTMENTS Text-mining Protein Localization Evidence Scores | cellular components co-occuring with DEFB104B protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset. | |
| COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 | cellular components co-occuring with DEFB104B 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 DEFB104B gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset. | |
| DISEASES Text-mining Gene-Disease Association Evidence Scores | diseases co-occuring with DEFB104B gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. | |
| DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 | diseases co-occuring with DEFB104B 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 DEFB104B gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. | |
| DisGeNET Gene-Phenotype Associations | phenotypes associated with DEFB104B 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 DEFB104B 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 DEFB104B gene from the ENCODE Transcription Factor Binding Site Profiles dataset. | |
| ENCODE Transcription Factor Targets | transcription factors binding the promoter of DEFB104B gene in ChIP-seq datasets from the ENCODE Transcription Factor Targets dataset. | |
| GeneRIF Biological Term Annotations | biological terms co-occuring with DEFB104B 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 DEFB104B from the GeneSigDB Published Gene Signatures dataset. | |
| GEO Signatures of Differentially Expressed Genes for Gene Perturbations | gene perturbations changing expression of DEFB104B gene from the GEO Signatures of Differentially Expressed Genes for Gene Perturbations dataset. | |
| GEO Signatures of Differentially Expressed Genes for Small Molecules | small molecule perturbations changing expression of DEFB104B gene from the GEO Signatures of Differentially Expressed Genes for Small Molecules dataset. | |
| HuGE Navigator Gene-Phenotype Associations | phenotypes associated with DEFB104B gene by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. | |
| JASPAR Predicted Human Transcription Factor Targets 2025 | transcription factors regulating expression of DEFB104B gene predicted using known transcription factor binding site motifs from the JASPAR Predicted Human Transcription Factor Targets dataset. | |
| JASPAR Predicted Transcription Factor Targets | transcription factors regulating expression of DEFB104B 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 DEFB104B gene relative to other cell lines from the Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles dataset. | |
| MiRTarBase microRNA Targets | microRNAs targeting DEFB104B 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 DEFB104B gene predicted using known transcription factor binding site motifs from the MotifMap Predicted Transcription Factor Targets dataset. | |
| Roadmap Epigenomics Histone Modification Site Profiles | histone modification site profiles with high histone modification abundance at DEFB104B gene from the Roadmap Epigenomics Histone Modification Site Profiles dataset. | |
| Rummagene Transcription Factor Associations 2026 | transcription factors regulating expression of DEFB104B gene from the Rummagene Transcription Factor Associations 2026 dataset. | |
| RummaGEO Gene Perturbation Signatures | gene perturbations changing expression of DEFB104B gene from the RummaGEO Gene Perturbation Signatures dataset. | |
| TISSUES Curated Tissue Protein Expression Evidence Scores | tissues with high expression of DEFB104B protein from the TISSUES Curated Tissue Protein Expression Evidence Scores dataset. | |
| TISSUES Curated Tissue Protein Expression Evidence Scores 2025 | tissues with high expression of DEFB104B protein from the TISSUES Curated Tissue Protein Expression Evidence Scores 2025 dataset. | |
| TISSUES Text-mining Tissue Protein Expression Evidence Scores | tissues co-occuring with DEFB104B 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 DEFB104B protein in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset. | |
