DEFA6 (Defensin Alpha 6)
Gene encoding an antimicrobial peptide of the alpha-defensin family, primarily expressed in Paneth cells of the small intestine.
Gene Information Card
| Symbol | DEFA6 |
|---|---|
| Full Name | Defensin Alpha 6 |
| Gene Type | protein-coding |
| Chromosomal Location | 8p23.1 |
| NCBI Gene ID | 1672 ncbi.nlm.nih.gov/gene/1672 |
| Ensembl ID | ENSG00000164821 |
| UniProt ID | Q01524 |
| OMIM ID | 600471 |
| HGNC ID | 2764 |
| Aliases | DEF6, HNP-6, MGC51822 |
Description
DEFA6 encodes defensin alpha 6, a member of the alpha-defensin family of antimicrobial peptides. These peptides are produced by Paneth cells in the small intestine and contribute to innate immunity by disrupting microbial membranes. DEFA6 is specifically expressed in intestinal crypts and plays a role in maintaining gut homeostasis and defense against pathogens.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Crohn's disease | Reduced DEFA6 expression may impair antimicrobial defense, contributing to intestinal inflammation. | PMID: 19252488 |
| Inflammatory bowel disease | Altered defensin levels are associated with dysbiosis and mucosal barrier dysfunction. | PMID: 16916644 |
| Colorectal cancer | DEFA6 expression is downregulated in some colorectal tumors, potentially affecting tumor microenvironment. | PMID: 21536890 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Small intestine | 112.5 | High |
| Colon | 2.3 | Low |
| Stomach | 0.8 | Not detected |
| Pancreas | 0.1 | Not detected |
| Liver | 0.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Caco-2 (colorectal adenocarcinoma) | 0.2 | Low expression |
| HT-29 (colorectal adenocarcinoma) | 0.1 | Not detected |
| HCT 116 (colorectal carcinoma) | 0.0 | Not detected |
| Paneth cell (primary) | High | Specific expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1Val) | Missense | Rare | Potential loss of start codon; functional impact unknown |
| c.94G>A (p.Gly32Ser) | Missense | <0.01% | Uncertain significance |
| c.167C>T (p.Thr56Ile) | Missense | <0.01% | Uncertain significance |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
Gain of Function (GOF)
No gain-of-function mutations described.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • extracellular region (GO:0005576) | • extracellular space (GO:0005615) |
| • defense response to bacterium (GO:0042742) | • killing of cells of other organism (GO:0031640) |
| • defense response (GO:0006952) |
Pathways
• Innate immune system (Reactome: R-HSA-168249)
• Antimicrobial peptides (Reactome: R-HSA-6803157)
• Defensins (KEGG: hsa04623)
Protein Summary
Defensin alpha 6 (DEFA6) is a 32-amino-acid mature peptide (after signal and propeptide cleavage) that forms a triple-stranded beta-sheet structure stabilized by three disulfide bonds. It exhibits broad-spectrum antimicrobial activity against Gram-positive and Gram-negative bacteria, fungi, and some viruses. DEFA6 is stored in Paneth cell granules and secreted into the intestinal lumen, where it contributes to the mucosal barrier.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DEFA6 Knockout HEK293 Cell Line | EDJ-KQ3700 | Human | 1671 | Details Get a Quote |
| DEFA6 Knockout HeLa Cell Line | EDJ-KQ53085 | Human | 1671 | Details Get a Quote |
| DEFA6 Knockout A-549 Cell Line | EDJ-KQ61551 | Human | 1671 | Details Get a Quote |
| DEFA6 Knockout HCT 116 Cell Line | EDJ-KQ70043 | Human | 1671 | Details Get a Quote |
