Entrez Gene ID | 245938 |
---|---|
Official Gene Symbol | DEFB125 (GeneCards) |
Full name | defensin beta 125 |
Location | 20p13 |
Other ids | Vega : OTTHUMG00000031614 HGNC : HGNC:18105 Ensembl : ENSG00000178591 |
Other names | DEFB-25 |
Summary | Defensins are cysteine-rich cationic polypeptides that are important in the host 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 20p13. [provided by RefSeq, Nov 2014] |
Found 3 variants in this database.
Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
---|---|---|---|---|---|---|---|
21301 | 245938 | DEFB125 | 20 | 82271 | 82271 | Asymptomatic | HiSeq X Ten |
21472 | 245938 | DEFB125 | 20 | 121037 | 121037 | Cockayne syndrome | HiSeq X Ten |
28547 | 245938 | DEFB125 | 20 | 68232 | 68232 | Asymptomatic | HiSeq X Ten Single cell Sequencing Cell cloning |