DEFB130A
Defensin Beta 130A
Gene Information Card
| Symbol | DEFB130A |
|---|---|
| Full Name | Defensin Beta 130A |
| Gene Type | protein-coding |
| Chromosomal Location | 6p12.3 |
| NCBI Gene ID | 100289019 ncbi.nlm.nih.gov/gene/100289019 |
| Ensembl ID | ENSG00000205562 |
| UniProt ID | Q5JQC9 |
| OMIM ID | - |
| HGNC ID | 40010 |
| Aliases | DEFB130, DEFB-130A |
Description
DEFB130A is a member of the beta-defensin family of antimicrobial peptides, which are primarily expressed in epithelial tissues and play a role in innate immunity by disrupting microbial membranes. The gene is located on chromosome 6p12.3 and encodes a small cationic peptide.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No curated disease associations | - | - |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 0.0 | Not detected |
| Skin | 0.0 | Not detected |
| Lung | 0.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| No data | - | - |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No curated mutations | - | - | - |
Mutation functional classification
Loss of Function (LOF)
No data
Gain of Function (GOF)
No data
Dominant Negative (DN)
No data
View complete mutation data：
Protein Summary
The DEFB130A protein is a predicted beta-defensin with a conserved defensin domain, likely involved in antimicrobial defense. Its specific biological function has not been experimentally characterized.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DEFB130A Knockout HEK293 Cell Line | EDJ-KQ11521 | Human | 245940 | Details Get a Quote |
| DEFB130A Knockout HeLa Cell Line | EDJ-KQ59224 | Human | 245940 | Details Get a Quote |
| DEFB130A Knockout A-549 Cell Line | EDJ-KQ67692 | Human | 245940 | Details Get a Quote |
| DEFB130A Knockout HCT 116 Cell Line | EDJ-KQ76076 | Human | 245940 | Details Get a Quote |
