DEFB106A Gene

HGNC Family Defensins
Name defensin, beta 106A
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 106, DEFB106A and DEFB106B, in head-to-head orientation. This gene, DEFB106A, represents the more centromeric copy. [provided by RefSeq, Oct 2014]
Summary
{"type": "root", "children": [{"type": "t", "text": "<div>\n "}, {"type": "p", "children": [{"type": "t", "text": "\n Human β‐defensin 6, encoded by the gene DEFB106A, is a cationic antimicrobial peptide that plays a multifaceted role in innate immunity and reproductive physiology. Initial gene‐discovery studies identified DEFB106 among several novel β‐defensins, with expression detected in the lung and other tissues, and pilot functional analyses revealed that its protein product exhibits strong antimicrobial activity against bacteria and fungi, as well as high affinity for molecules such as heparin and lipopolysaccharide."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": ""}]}, {"type": "t", "text": "\n \n "}, {"type": "p", "children": [{"type": "t", "text": "\n Subsequent biochemical and expression analyses have localized DEFB106 protein not only to immunologically active tissues such as the lung and bone marrow but also to reproductive tissues including the epididymis and testis."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "2"}]}, {"type": "t", "text": " In-depth epididymal transcriptomic studies further indicate that DEFB106A is expressed in a region-specific manner, with relatively high transcript levels in the corpus epididymis—a finding that suggests a potential role in maintaining the luminal milieu necessary for sperm maturation."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "3"}]}, {"type": "t", "text": ""}]}, {"type": "t", "text": "\n \n "}, {"type": "p", "children": [{"type": "t", "text": "\n Moreover, differential gene expression profiling in the human epididymis of infertile versus fertile men has shown that DEFB106A is among several genes downregulated in patients with nonobstructive azoospermia. This repression of DEFB106A, along with genes involved in water and ion transport, underscores its likely contribution to the proper functioning of the epididymal environment and, by extension, to male fertility."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "4"}]}, {"type": "t", "text": "\n "}]}, {"type": "t", "text": "\n \n "}, {"type": "p", "children": [{"type": "t", "text": "\n Collectively, these studies highlight that DEFB106A serves as an important effector molecule at the crossroads of antimicrobial defense and the regulation of the reproductive tract’s luminal homeostasis. Its conserved structural features ensure robust antimicrobial activity while its tissue-specific expression pattern hints at additional roles in modulating fertility.\n "}]}, {"type": "t", "text": "\n</div>"}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Cheng Yuan Kao, Yin Chen, Yu Hua Zhao, et al. "}, {"type": "b", "children": [{"type": "t", "text": "ORFeome-based search of airway epithelial cell-specific novel human [beta]-defensin genes."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Respir Cell Mol Biol (2003)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1165/rcmb.2002-0205OC"}], "href": "https://doi.org/10.1165/rcmb.2002-0205OC"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "12600824"}], "href": "https://pubmed.ncbi.nlm.nih.gov/12600824"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Aijie Xin, Yue Zhao, Heguo Yu, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Soluble fusion expression, characterization and localization of human β-defensin 6."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Med Rep (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.3892/mmr.2013.1768"}], "href": "https://doi.org/10.3892/mmr.2013.1768"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "24189797"}], "href": "https://pubmed.ncbi.nlm.nih.gov/24189797"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Wangsheng Zhao, Eugene Quansah, Meng Yuan, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Region-specific gene expression in the epididymis of Yak."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Theriogenology (2019)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.theriogenology.2019.08.006"}], "href": "https://doi.org/10.1016/j.theriogenology.2019.08.006"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "31404823"}], "href": "https://pubmed.ncbi.nlm.nih.gov/31404823"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Evemie Dubé, Louis Hermo, Peter T K Chan, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Alterations in gene expression in the caput epididymides of nonobstructive azoospermic men."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Biol Reprod (2008)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1095/biolreprod.107.062760"}], "href": "https://doi.org/10.1095/biolreprod.107.062760"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17928628"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17928628"}]}]}]}
Synonyms DEFB106, DEFB-6
Proteins D106A_HUMAN
NCBI Gene ID 245909
API
Download Associations
Predicted Functions View DEFB106A's ARCHS4 Predicted Functions.
Co-expressed Genes View DEFB106A's ARCHS4 Predicted Functions.
Expression in Tissues and Cell Lines View DEFB106A's ARCHS4 Predicted Functions.

Functional Associations

DEFB106A has 553 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 45 datasets.

Click the + buttons to view associations for DEFB106A 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 DEFB106A 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 DEFB106A 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 DEFB106A gene from the CM4AI KOLF21J CRISPRi Gene Perturbation Atlas dataset.
COMPARTMENTS Curated Protein Localization Evidence Scores cellular components containing DEFB106A protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
COMPARTMENTS Curated Protein Localization Evidence Scores 2025 cellular components containing DEFB106A protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
COMPARTMENTS Text-mining Protein Localization Evidence Scores cellular components co-occuring with DEFB106A 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 DEFB106A 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 DEFB106A gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
COSMIC Cell Line Gene Mutation Profiles cell lines with DEFB106A gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
DISEASES Text-mining Gene-Disease Association Evidence Scores diseases co-occuring with DEFB106A 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 DEFB106A 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 DEFB106A 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 DEFB106A gene from the ENCODE Transcription Factor Binding Site Profiles dataset.
ENCODE Transcription Factor Targets transcription factors binding the promoter of DEFB106A gene in ChIP-seq datasets from the ENCODE Transcription Factor Targets dataset.
GAD Gene-Disease Associations diseases associated with DEFB106A gene in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
GeneRIF Biological Term Annotations biological terms co-occuring with DEFB106A 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 DEFB106A from the GeneSigDB Published Gene Signatures dataset.
GEO Signatures of Differentially Expressed Genes for Gene Perturbations gene perturbations changing expression of DEFB106A gene from the GEO Signatures of Differentially Expressed Genes for Gene Perturbations dataset.
GEO Signatures of Differentially Expressed Genes for Kinase Perturbations kinase perturbations changing expression of DEFB106A gene from the GEO Signatures of Differentially Expressed Genes for Kinase Perturbations dataset.
GO Biological Process Annotations 2023 biological processes involving DEFB106A gene from the curated GO Biological Process Annotations 2023 dataset.
GO Biological Process Annotations 2025 biological processes involving DEFB106A gene from the curated GO Biological Process Annotations2025 dataset.
GO Cellular Component Annotations 2023 cellular components containing DEFB106A protein from the curated GO Cellular Component Annotations 2023 dataset.
GO Cellular Component Annotations 2025 cellular components containing DEFB106A protein from the curated GO Cellular Component Annotations 2025 dataset.
GO Molecular Function Annotations 2023 molecular functions performed by DEFB106A gene from the curated GO Molecular Function Annotations 2023 dataset.
GO Molecular Function Annotations 2025 molecular functions performed by DEFB106A gene from the curated GO Molecular Function Annotations 2025 dataset.
Heiser et al., PNAS, 2011 Cell Line Gene Expression Profiles cell lines with high or low expression of DEFB106A 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 DEFB106A protein relative to other tissues from the HPA Tissue Protein Expression Profiles dataset.
HuGE Navigator Gene-Phenotype Associations phenotypes associated with DEFB106A gene by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.
InterPro Predicted Protein Domain Annotations protein domains predicted for DEFB106A protein from the InterPro Predicted Protein Domain Annotations dataset.
JASPAR Predicted Human Transcription Factor Targets 2025 transcription factors regulating expression of DEFB106A 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 DEFB106A 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 DEFB106A 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 DEFB106A 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 DEFB106A protein from the LOCATE Predicted Protein Localization Annotations dataset.
MiRTarBase microRNA Targets microRNAs targeting DEFB106A 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 DEFB106A gene predicted using known transcription factor binding site motifs from the MotifMap Predicted Transcription Factor Targets dataset.
Reactome Pathways 2014 pathways involving DEFB106A protein from the Reactome Pathways dataset.
Reactome Pathways 2024 pathways involving DEFB106A protein from the Reactome Pathways 2024 dataset.
Rummagene Transcription Factor Associations 2026 transcription factors regulating expression of DEFB106A gene from the Rummagene Transcription Factor Associations 2026 dataset.
TargetScan Predicted Nonconserved microRNA Targets microRNAs regulating expression of DEFB106A 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 DEFB106A 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 DEFB106A protein from the TISSUES Curated Tissue Protein Expression Evidence Scores dataset.
TISSUES Curated Tissue Protein Expression Evidence Scores 2025 tissues with high expression of DEFB106A protein from the TISSUES Curated Tissue Protein Expression Evidence Scores 2025 dataset.
TISSUES Text-mining Tissue Protein Expression Evidence Scores tissues co-occuring with DEFB106A 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 DEFB106A protein in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset.