DEFB119: Defensin Beta 119
A beta-defensin antimicrobial peptide gene involved in host defense and mucosal immunity
Gene Information Card
| Symbol | DEFB119 |
|---|---|
| Full Name | Defensin Beta 119 |
| Gene Type | protein-coding |
| Chromosomal Location | 20q11.21 |
| NCBI Gene ID | 245927 ncbi.nlm.nih.gov/gene/245927 |
| Ensembl ID | ENSG00000181929 |
| UniProt ID | Q8N688 |
| OMIM ID | 614158 |
| HGNC ID | 18104 |
| Aliases | DEFB-19, DEFB119, beta-defensin 119 |
Description
DEFB119 encodes a member of the beta-defensin family of antimicrobial peptides. Beta-defensins are small cationic peptides that exhibit broad-spectrum antimicrobial activity against bacteria, fungi, and viruses. DEFB119 is expressed in epithelial tissues and plays a role in innate immune defense, particularly at mucosal surfaces. The gene is located in a cluster of beta-defensin genes on chromosome 20q11.21.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Chronic obstructive pulmonary disease (COPD) | Altered defensin expression may impair airway mucosal defense | PMID: 20628007 |
| Cystic fibrosis | Reduced beta-defensin activity contributes to chronic lung infections | PMID: 15294846 |
| Inflammatory bowel disease | Dysregulation of defensins in intestinal epithelium linked to Crohn's disease | PMID: 16916643 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 0.4 | Low |
| Lung | 0.3 | Low |
| Trachea | 0.2 | Low |
| Prostate | 0.1 | Low |
| Kidney | 0.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A549 (lung carcinoma) | 0.2 | Low expression |
| Caco-2 (colorectal adenocarcinoma) | 0.1 | Low expression |
| HEK 293 (embryonic kidney) | 0.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs17816967 | SNP | 0.02 (global) | Missense variant; functional impact unknown |
| rs17816968 | SNP | 0.01 (global) | Synonymous variant; no known effect |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• hsa04622: RIG-I-like receptor signaling pathway
• hsa04623: Cytosolic DNA-sensing pathway
• hsa05164: Influenza A
Protein Summary
DEFB119 is a 67-amino acid beta-defensin with a characteristic six-cysteine motif forming three disulfide bonds. The mature peptide is secreted and exhibits antimicrobial activity against Gram-positive and Gram-negative bacteria. It is expressed at low levels in epithelial tissues and is part of the innate immune response at mucosal surfaces.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DEFB119 Knockout HEK293 Cell Line | EDJ-KQ11513 | Human | 245932 | Details Get a Quote |
| DEFB119 Knockout HeLa Cell Line | EDJ-KQ59218 | Human | 245932 | Details Get a Quote |
| DEFB119 Knockout A-549 Cell Line | EDJ-KQ67686 | Human | 245932 | Details Get a Quote |
| DEFB119 Knockout HCT 116 Cell Line | EDJ-KQ76070 | Human | 245932 | Details Get a Quote |
