DEFA4
defensin alpha 4
Summary
Defensins are a family of antimicrobial and cytotoxic peptides thought to be involved in host defense. They are abundant in the granules of neutrophils and also found in the epithelia of mucosal surfaces such as those of the intestine, respiratory tract, urinary tract, and vagina. Members of the defensin family are highly similar in protein sequence and distinguished by a conserved cysteine motif. Several alpha defensin genes are clustered on chromosome 8. This gene differs from other genes of this family by an extra 83-base segment that is apparently the result of a recent duplication within the coding region. The protein encoded by this gene, defensin, alpha 4, is found in the neutrophils; it exhibits corticostatic activity and inhibits corticotropin stimulated corticosterone production. [provided by RefSeq, Oct 2014]
Known Variants11 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs754867893 | 8:6,793,552 | C/T | — | uncertain significance |
| rs559915823 | 8:6,794,255 | A/G | — | uncertain significance |
| rs753521273 | 8:6,794,261 | A/G | — | uncertain significance |
| rs2486094866 | 8:6,794,291 | A/G | — | uncertain significance |
| rs149266478 | 8:6,794,318 | C/T | — | uncertain significance |
| rs757891881 | 8:6,794,334 | G/A | — | uncertain significance |
| rs781687300 | 8:6,794,343 | C/T | — | uncertain significance |
| rs376454044 | 8:6,794,369 | C/T | — | likely benign |
| rs191203885 | 8:6,794,372 | A/G | — | likely benign |
| rs548638509 | 8:6,794,409 | C/T | — | uncertain significance |
| rs2741679 | 8:6,794,867 | T/C | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.