| HGNC Family | Defensins |
| Name | defensin, beta 135 |
| Description | Defensins are cysteine-rich cationic polypeptides that are important in the immunologic response to invading microorganisms. The antimicrobial protein encoded by this gene is secreted and is a member of the beta defensin protein family. Beta defensin genes are found in several clusters throughout the genome, with this gene mapping to a cluster at 8p23. [provided by RefSeq, Nov 2014] |
| Summary |
{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n DEFB135 is a member of the beta‐defensin family—a group of small cationic peptides best known for their antimicrobial activity and roles in modulating local immune responses. Although the precise contribution of DEFB135 to human physiology remains to be fully defined, studies of related beta‐defensins have shown that these peptides are typically expressed in reproductive tissues where they help protect against microbial invasion and, in some cases, participate in processes such as sperm maturation and capacitation (3).\n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n In the context of congenital disorders caused by 8p23.1 deletions, a recent study identified a deletion spanning several genes—including DEFB135, as well as DEFB134 and DEFB136—together with cardiac‐critical genes such as GATA4 and NEIL2 (6). While the clinical findings suggest that the congenital diaphragmatic hernia and cardiac defects observed in patients with these deletions are most likely driven by haploinsufficiency of GATA4 and NEIL2, the inclusion of beta‐defensin genes like DEFB135 in the deleted region raises the possibility that alterations in local innate immunity or proteolytic processes may modulate the overall phenotype.\n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n Taken together with the broader evidence of beta‐defensin functions in host defense and reproductive biology (3), the available data imply that although DEFB135 is not the principal causative gene for the congenital malformations seen in 8p23.1 microdeletions, its loss may still have ancillary effects on the local tissue environment. Future work is needed to ascertain whether DEFB135 might play any modifying role in congenital heart defects or related developmental processes.\n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n Other studies have contributed to our understanding of the genetic and developmental context of congenital heart disease (1, 2, 4, 5).\n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n <small>\n (1)"}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": ", \n (2)"}, {"type": "fg", "children": [{"type": "fg_f", "ref": "2"}]}, {"type": "t", "text": ", \n (3)"}, {"type": "fg", "children": [{"type": "fg_f", "ref": "3"}]}, {"type": "t", "text": ", \n (4)"}, {"type": "fg", "children": [{"type": "fg_f", "ref": "4"}]}, {"type": "t", "text": ", \n (5)"}, {"type": "fg", "children": [{"type": "fg_f", "ref": "5"}]}, {"type": "t", "text": ", \n (6)"}, {"type": "fg", "children": [{"type": "fg_f", "ref": "6"}]}, {"type": "t", "text": "</small>\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Bo Yang, Wei Zhou, Jiao Jiao, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Protein-altering and regulatory genetic variants near GATA4 implicated in bicuspid aortic valve."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Commun (2017)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/ncomms15481"}], "href": "https://doi.org/10.1038/ncomms15481"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "28541271"}], "href": "https://pubmed.ncbi.nlm.nih.gov/28541271"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Lindsay B Henderson, Vishal K Doshi, Scott M Blackman, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Variation in MSRA modifies risk of neonatal intestinal obstruction in cystic fibrosis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "PLoS Genet (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1371/journal.pgen.1002580"}], "href": "https://doi.org/10.1371/journal.pgen.1002580"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "22438829"}], "href": "https://pubmed.ncbi.nlm.nih.gov/22438829"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Suresh Yenugu, Vishnu Chintalgattu, Christopher J Wingard, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Identification, cloning and functional characterization of novel beta-defensins in the rat (Rattus norvegicus)."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Reprod Biol Endocrinol (2006)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1186/1477-7827-4-7"}], "href": "https://doi.org/10.1186/1477-7827-4-7"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "16457734"}], "href": "https://pubmed.ncbi.nlm.nih.gov/16457734"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Mengjiao Guo, Fahao Wu, Zhongfang Zhang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Characterization of Rabbit Nucleotide-Binding Oligomerization Domain 1 (NOD1) and the Role of NOD1 Signaling Pathway during Bacterial Infection."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Front Immunol (2017)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.3389/fimmu.2017.01278"}], "href": "https://doi.org/10.3389/fimmu.2017.01278"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "29067026"}], "href": "https://pubmed.ncbi.nlm.nih.gov/29067026"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Yann Le Guen, Cathy Philippe, Denis Riviere, et al. "}, {"type": "b", "children": [{"type": "t", "text": "eQTL of KCNK2 regionally influences the brain sulcal widening: evidence from 15,597 UK Biobank participants with neuroimaging data."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Brain Struct Funct (2019)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/s00429-018-1808-9"}], "href": "https://doi.org/10.1007/s00429-018-1808-9"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "30519892"}], "href": "https://pubmed.ncbi.nlm.nih.gov/30519892"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Elisabeth A Keitges, Romela Pasion, Rachel D Burnside, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Prenatal diagnosis of two fetuses with deletions of 8p23.1, critical region for congenital diaphragmatic hernia and heart defects."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Med Genet A (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/ajmg.a.35965"}], "href": "https://doi.org/10.1002/ajmg.a.35965"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23696316"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23696316"}]}]}]}
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| Synonyms | DEFB136 |
| Proteins | DB135_HUMAN |
| NCBI Gene ID | 613209 |
| 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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DEFB135 has 764 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 45 datasets.
Click the + buttons to view associations for DEFB135 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 DEFB135 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 DEFB135 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 Prenatal Human Brain Tissue Gene Expression Profiles | tissues with high or low expression of DEFB135 gene relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset. | |
| CCLE Cell Line Gene CNV Profiles | cell lines with high or low copy number of DEFB135 gene relative to other cell lines from the CCLE Cell Line Gene CNV Profiles dataset. | |
| ChEA Transcription Factor Binding Site Profiles | transcription factor binding site profiles with transcription factor binding evidence at the promoter of DEFB135 gene from the CHEA Transcription Factor Binding Site Profiles dataset. | |
| ChEA Transcription Factor Targets | transcription factors binding the promoter of DEFB135 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 DEFB135 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset. | |
| COMPARTMENTS Curated Protein Localization Evidence Scores | cellular components containing DEFB135 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset. | |
| COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 | cellular components co-occuring with DEFB135 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 DEFB135 gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset. | |
| COSMIC Cell Line Gene Mutation Profiles | cell lines with DEFB135 gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset. | |
| DepMap CRISPR Gene Dependency | cell lines with fitness changed by DEFB135 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 DEFB135 gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset. | |
| DISEASES Text-mining Gene-Disease Association Evidence Scores | diseases co-occuring with DEFB135 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 DEFB135 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 DEFB135 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 DEFB135 gene from the ENCODE Transcription Factor Binding Site Profiles dataset. | |
| ENCODE Transcription Factor Targets | transcription factors binding the promoter of DEFB135 gene in ChIP-seq datasets from the ENCODE Transcription Factor Targets dataset. | |
| GeneRIF Biological Term Annotations | biological terms co-occuring with DEFB135 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 DEFB135 from the GeneSigDB Published Gene Signatures dataset. | |
| GEO Signatures of Differentially Expressed Genes for Kinase Perturbations | kinase perturbations changing expression of DEFB135 gene from the GEO Signatures of Differentially Expressed Genes for Kinase Perturbations dataset. | |
| GO Biological Process Annotations 2015 | biological processes involving DEFB135 gene from the curated GO Biological Process Annotations 2015 dataset. | |
| GO Biological Process Annotations 2023 | biological processes involving DEFB135 gene from the curated GO Biological Process Annotations 2023 dataset. | |
| GO Cellular Component Annotations 2015 | cellular components containing DEFB135 protein from the curated GO Cellular Component Annotations 2015 dataset. | |
| GTEx Tissue Gene Expression Profiles | tissues with high or low expression of DEFB135 gene relative to other tissues from the GTEx Tissue Gene Expression Profiles dataset. | |
| GWAS Catalog SNP-Phenotype Associations 2025 | phenotypes associated with DEFB135 gene in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. | |
| HPA Tissue Protein Expression Profiles | tissues with high or low expression of DEFB135 protein relative to other tissues from the HPA Tissue Protein Expression Profiles dataset. | |
| InterPro Predicted Protein Domain Annotations | protein domains predicted for DEFB135 protein from the InterPro Predicted Protein Domain Annotations dataset. | |
| JASPAR Predicted Human Transcription Factor Targets 2025 | transcription factors regulating expression of DEFB135 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 DEFB135 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 DEFB135 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 DEFB135 gene relative to other cell lines from the Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles dataset. | |
| LOCATE Predicted Protein Localization Annotations | cellular components predicted to contain DEFB135 protein from the LOCATE Predicted Protein Localization Annotations dataset. | |
| MotifMap Predicted Transcription Factor Targets | transcription factors regulating expression of DEFB135 gene predicted using known transcription factor binding site motifs from the MotifMap Predicted Transcription Factor Targets dataset. | |
| PerturbAtlas Signatures of Differentially Expressed Genes for Mouse Gene Perturbations | gene perturbations changing expression of DEFB135 gene from the PerturbAtlas Signatures of Differentially Expressed Genes for Gene Perturbations dataset. | |
| Reactome Pathways 2014 | pathways involving DEFB135 protein from the Reactome Pathways dataset. | |
| Reactome Pathways 2024 | pathways involving DEFB135 protein from the Reactome Pathways 2024 dataset. | |
| Roadmap Epigenomics Histone Modification Site Profiles | histone modification site profiles with high histone modification abundance at DEFB135 gene from the Roadmap Epigenomics Histone Modification Site Profiles dataset. | |
| RummaGEO Drug Perturbation Signatures | drug perturbations changing expression of DEFB135 gene from the RummaGEO Drug Perturbation Signatures dataset. | |
| RummaGEO Gene Perturbation Signatures | gene perturbations changing expression of DEFB135 gene from the RummaGEO Gene Perturbation Signatures dataset. | |
| TCGA Signatures of Differentially Expressed Genes for Tumors | tissue samples with high or low expression of DEFB135 gene relative to other tissue samples from the TCGA Signatures of Differentially Expressed Genes for Tumors dataset. | |
| TISSUES Experimental Tissue Protein Expression Evidence Scores 2025 | tissues with high expression of DEFB135 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 DEFB135 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 DEFB135 protein in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset. | |
| WikiPathways Pathways 2024 | pathways involving DEFB135 protein from the WikiPathways Pathways 2024 dataset. | |
