DEFB114
defensin beta 114
Summary
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. The protein encoded by this gene is a beta-defensin with antimicrobial activity against E. coli, S. aureus, and C. albicans. The encoded protein also binds and neutralizes lipopolysaccharide (LPS), a factor involved in inflammatory diseases and male reproductive issues. [provided by RefSeq, Nov 2014]
Known Variants8 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1285574613 | 6:49,928,099 | T/C | — | uncertain significance |
| rs775542119 | 6:49,928,112 | G/A | — | uncertain significance |
| rs1411317608 | 6:49,928,117 | T/C | — | uncertain significance |
| rs146335986 | 6:49,928,121 | G/A | — | uncertain significance |
| rs577162073 | 6:49,928,132 | C/T | — | uncertain significance |
| rs773884354 | 6:49,931,776 | A/T | — | uncertain significance |
| rs1380905260 | 6:49,931,779 | T/C | — | uncertain significance |
| rs144185086 | 6:49,933,565 | T/A | upstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.