| HGNC Family | Defensins |
| Name | defensin, beta 105A |
| 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 105, DEFB105A and DEFB105B, in tail-to-tail orientation. This gene, DEFB105A, represents the more centromeric copy. [provided by RefSeq, Oct 2014] |
| Summary |
{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n DEFB105A is a member of the human β‐defensin family—a group of small, cationic peptides that contribute both to antimicrobial defense and to the modulation of immune responses. In several studies the β‐defensin genomic region has been implicated in host inflammatory processes and innate immune regulation, for example in skin disorders such as psoriasis"}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": "and in the antimicrobial protection of extra‐placental membranes."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "2"}]}, {"type": "t", "text": " In the study that specifically incorporated DEFB105A (along with its closely related allele DEFB105B), the variable microsatellite region within this β‐defensin locus was successfully exploited in a highly sensitive droplet digital PCR assay for the detection and quantification of microsatellite instability in tumor and circulating DNA."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "3"}]}, {"type": "t", "text": " Thus, while the canonical function of β‐defensins is to act as antimicrobial and immunomodulatory effector molecules, the inherent genomic variability at the DEFB105A/B locus also renders it a useful biomarker for genomic instability that may have clinical utility in cancer diagnostics."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "4"}]}, {"type": "t", "text": "\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Edward J Hollox, Ulrike Huffmeier, Patrick L J M Zeeuwen, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Psoriasis is associated with increased beta-defensin genomic copy number."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Genet (2008)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/ng.2007.48"}], "href": "https://doi.org/10.1038/ng.2007.48"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "18059266"}], "href": "https://pubmed.ncbi.nlm.nih.gov/18059266"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "E Boldenow, S Jones, R W Lieberman, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Antimicrobial peptide response to group B Streptococcus in human extraplacental membranes in culture."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Placenta (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.placenta.2013.02.010"}], "href": "https://doi.org/10.1016/j.placenta.2013.02.010"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23562109"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23562109"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Amanda Bortolini Silveira, François-Clément Bidard, Amélie Kasperek, et al. "}, {"type": "b", "children": [{"type": "t", "text": "High-Accuracy Determination of Microsatellite Instability Compatible with Liquid Biopsies."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Clin Chem (2020)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/clinchem/hvaa013"}], "href": "https://doi.org/10.1093/clinchem/hvaa013"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "32176763"}], "href": "https://pubmed.ncbi.nlm.nih.gov/32176763"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Robert J Hardwick, Lee R Machado, Luciana W Zuccherato, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A worldwide analysis of beta-defensin copy number variation suggests recent selection of a high-expressing DEFB103 gene copy in East Asia."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Mutat (2011)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/humu.21491"}], "href": "https://doi.org/10.1002/humu.21491"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "21387465"}], "href": "https://pubmed.ncbi.nlm.nih.gov/21387465"}]}]}]}
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| Synonyms | DEFB105, DEFB-5 |
| Proteins | D105A_HUMAN |
| NCBI Gene ID | 245908 |
| 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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DEFB105A has 644 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 33 datasets.
Click the + buttons to view associations for DEFB105A 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 DEFB105A 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 DEFB105A 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 DEFB105A gene from the CM4AI KOLF21J CRISPRi Gene Perturbation Atlas dataset. | |
| COMPARTMENTS Curated Protein Localization Evidence Scores | cellular components containing DEFB105A protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset. | |
| COMPARTMENTS Curated Protein Localization Evidence Scores 2025 | cellular components containing DEFB105A protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset. | |
| COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 | cellular components co-occuring with DEFB105A 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 DEFB105A gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset. | |
| COSMIC Cell Line Gene Mutation Profiles | cell lines with DEFB105A gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset. | |
| DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 | diseases co-occuring with DEFB105A gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. | |
| ENCODE Transcription Factor Binding Site Profiles | transcription factor binding site profiles with transcription factor binding evidence at the promoter of DEFB105A gene from the ENCODE Transcription Factor Binding Site Profiles dataset. | |
| ENCODE Transcription Factor Targets | transcription factors binding the promoter of DEFB105A gene in ChIP-seq datasets from the ENCODE Transcription Factor Targets dataset. | |
| GAD Gene-Disease Associations | diseases associated with DEFB105A gene in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. | |
| GeneRIF Biological Term Annotations | biological terms co-occuring with DEFB105A 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 DEFB105A from the GeneSigDB Published Gene Signatures dataset. | |
| Heiser et al., PNAS, 2011 Cell Line Gene Expression Profiles | cell lines with high or low expression of DEFB105A gene relative to other cell lines from the Heiser et al., PNAS, 2011 Cell Line Gene Expression Profiles dataset. | |
| HuGE Navigator Gene-Phenotype Associations | phenotypes associated with DEFB105A gene by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. | |
| InterPro Predicted Protein Domain Annotations | protein domains predicted for DEFB105A protein from the InterPro Predicted Protein Domain Annotations dataset. | |
| JASPAR Predicted Human Transcription Factor Targets 2025 | transcription factors regulating expression of DEFB105A 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 DEFB105A 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 DEFB105A gene relative to other cell lines from the Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles dataset. | |
| LOCATE Curated Protein Localization Annotations | cellular components containing DEFB105A 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 DEFB105A protein from the LOCATE Predicted Protein Localization Annotations dataset. | |
| MotifMap Predicted Transcription Factor Targets | transcription factors regulating expression of DEFB105A gene predicted using known transcription factor binding site motifs from the MotifMap Predicted Transcription Factor Targets dataset. | |
| Reactome Pathways 2014 | pathways involving DEFB105A protein from the Reactome Pathways dataset. | |
| Reactome Pathways 2024 | pathways involving DEFB105A protein from the Reactome Pathways 2024 dataset. | |
| Rummagene Transcription Factor Associations 2026 | transcription factors regulating expression of DEFB105A gene from the Rummagene Transcription Factor Associations 2026 dataset. | |
| RummaGEO Drug Perturbation Signatures | drug perturbations changing expression of DEFB105A gene from the RummaGEO Drug Perturbation Signatures dataset. | |
| RummaGEO Gene Perturbation Signatures | gene perturbations changing expression of DEFB105A gene from the RummaGEO Gene Perturbation Signatures dataset. | |
| TCGA Signatures of Differentially Expressed Genes for Tumors | tissue samples with high or low expression of DEFB105A 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 DEFB105A protein from the TISSUES Curated Tissue Protein Expression Evidence Scores dataset. | |
| TISSUES Curated Tissue Protein Expression Evidence Scores 2025 | tissues with high expression of DEFB105A protein from the TISSUES Curated Tissue Protein Expression Evidence Scores 2025 dataset. | |
| TISSUES Text-mining Tissue Protein Expression Evidence Scores | tissues co-occuring with DEFB105A 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 DEFB105A protein in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset. | |