| HGNC Family | Defensins |
| Name | defensin, beta 107A |
| 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 107, DEFB107A and DEFB107B, in tail-to-tail orientation. This gene, DEFB107A, represents the more centromeric copy. [provided by RefSeq, Oct 2014] |
| Summary |
{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n Beta‐defensins constitute a family of multifunctional peptides that serve as key effectors of the innate immune system by providing antimicrobial activity, modulating immune responses, and participating in diverse processes such as reproduction and pigmentation. DEFB107A is one member of this family encoded within a genomic region on human chromosome 8 that exhibits extensive copy number variation. Studies have shown that increases in the copy number of beta‐defensin genes are associated with inflammatory conditions such as psoriasis, pointing to an influence on disease susceptibility and host defence."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "3"}]}, {"type": "t", "text": " Furthermore, proteomic analyses have identified DEFB107A as a novel differentially expressed protein in clear cell renal cell carcinoma, suggesting that beyond its canonical antimicrobial role, DEFB107A may also serve as a potential biomarker in tumor pathogenesis."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "4"}]}, {"type": "t", "text": " Together, these findings underscore the complex regulation and evolutionary diversification of the beta‐defensin gene cluster and highlight the need for further investigation into the specific functions and clinical implications of DEFB107A.\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": "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"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Stefan Taudien, Klaus Huse, Marco Groth, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Narrowing down the distal border of the copy number variable beta-defensin gene cluster on human 8p23."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "BMC Res Notes (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1186/1756-0500-7-93"}], "href": "https://doi.org/10.1186/1756-0500-7-93"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "24552181"}], "href": "https://pubmed.ncbi.nlm.nih.gov/24552181"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Zhuang-Fei Chen, Yao-Jun Xiao, Ze-Hai Huang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "[Quantitative and comparative proteomics analysis in clear cell renal cell carcinoma and adjacent noncancerous tissues by 2-D DIGE]."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nan Fang Yi Ke Da Xue Xue Bao (2017)"}]}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "29180334"}], "href": "https://pubmed.ncbi.nlm.nih.gov/29180334"}]}]}]}
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| Synonyms | DEFB107, DEFB-7, BD-7 |
| Proteins | D107A_HUMAN |
| NCBI Gene ID | 245910 |
| 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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DEFB107A has 483 functional associations with biological entities spanning 6 categories (molecular profile, functional term, phrase or reference, disease, phenotype or trait, structural feature, cell line, cell type or tissue, gene, protein or microRNA) extracted from 32 datasets.
Click the + buttons to view associations for DEFB107A 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 DEFB107A 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 DEFB107A 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 DEFB107A gene from the CM4AI KOLF21J CRISPRi Gene Perturbation Atlas dataset. | |
| COMPARTMENTS Curated Protein Localization Evidence Scores | cellular components containing DEFB107A protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset. | |
| COMPARTMENTS Curated Protein Localization Evidence Scores 2025 | cellular components containing DEFB107A protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset. | |
| COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 | cellular components co-occuring with DEFB107A 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 DEFB107A gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset. | |
| DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 | diseases co-occuring with DEFB107A 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 DEFB107A gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. | |
| ENCODE Transcription Factor Binding Site Profiles | transcription factor binding site profiles with transcription factor binding evidence at the promoter of DEFB107A gene from the ENCODE Transcription Factor Binding Site Profiles dataset. | |
| ENCODE Transcription Factor Targets | transcription factors binding the promoter of DEFB107A gene in ChIP-seq datasets from the ENCODE Transcription Factor Targets dataset. | |
| GeneRIF Biological Term Annotations | biological terms co-occuring with DEFB107A 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 DEFB107A from the GeneSigDB Published Gene Signatures dataset. | |
| GO Biological Process Annotations 2023 | biological processes involving DEFB107A gene from the curated GO Biological Process Annotations 2023 dataset. | |
| GO Biological Process Annotations 2025 | biological processes involving DEFB107A gene from the curated GO Biological Process Annotations2025 dataset. | |
| Heiser et al., PNAS, 2011 Cell Line Gene Expression Profiles | cell lines with high or low expression of DEFB107A 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 DEFB107A protein relative to other tissues from the HPA Tissue Protein Expression Profiles dataset. | |
| InterPro Predicted Protein Domain Annotations | protein domains predicted for DEFB107A protein from the InterPro Predicted Protein Domain Annotations dataset. | |
| JASPAR Predicted Human Transcription Factor Targets 2025 | transcription factors regulating expression of DEFB107A 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 DEFB107A 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 DEFB107A 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 DEFB107A 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 DEFB107A gene from the KnockTF Gene Expression Profiles with Transcription Factor Perturbations dataset. | |
| LOCATE Predicted Protein Localization Annotations | cellular components predicted to contain DEFB107A protein from the LOCATE Predicted Protein Localization Annotations dataset. | |
| Reactome Pathways 2014 | pathways involving DEFB107A protein from the Reactome Pathways dataset. | |
| Reactome Pathways 2024 | pathways involving DEFB107A protein from the Reactome Pathways 2024 dataset. | |
| Rummagene Transcription Factor Associations 2026 | transcription factors regulating expression of DEFB107A gene from the Rummagene Transcription Factor Associations 2026 dataset. | |
| TargetScan Predicted Nonconserved microRNA Targets | microRNAs regulating expression of DEFB107A 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 DEFB107A 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 DEFB107A protein from the TISSUES Curated Tissue Protein Expression Evidence Scores dataset. | |
| TISSUES Curated Tissue Protein Expression Evidence Scores 2025 | tissues with high expression of DEFB107A 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 DEFB107A protein in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset. | |
