BPIFA2
BPI fold containing family A member 2
Summary
This gene encodes a member of the palate, lung and nasal epithelium clone (Plunc) family of proteins. Members of this family have been proposed to play a role in the local antibacterial response in nose, mouth and upper respiratory pathways. The encoded soluble salivary protein binds bacterial lipopolysaccharide (LPS) and inhibits bacterial growth. This gene is present in a gene cluster on chromosome 20. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
Known Variants18 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs6059134 | 20:31,754,236 | T/A | intron variant | — |
| rs774127829 | 20:31,757,105 | A/G | — | likely benign |
| rs6059143 | 20:31,759,170 | G/C | — | — |
| rs373945508 | 20:31,760,738 | G/A | — | uncertain significance |
| rs139042907 | 20:31,760,777 | A/G | — | uncertain significance |
| rs149868100 | 20:31,760,797 | C/G | — | uncertain significance |
| rs1367376769 | 20:31,760,880 | T/G | — | likely benign |
| rs61734343 | 20:31,761,885 | G/T | — | benign |
| rs17304572 | 20:31,761,919 | A/G | missense variant | — |
| rs750897300 | 20:31,763,215 | C/T | — | uncertain significance |
| rs1375640196 | 20:31,763,275 | T/C | — | uncertain significance |
| rs73111607 | 20:31,764,717 | C/T | intron variant | — |
| rs562811373 | 20:31,765,997 | C/T | — | uncertain significance |
| rs867201242 | 20:31,767,410 | A/G | — | likely benign |
| rs200433583 | 20:31,767,426 | G/A | — | likely benign |
| rs143444594 | 20:31,768,331 | C/T | — | uncertain significance |
| rs745343196 | 20:31,768,356 | C/A | — | uncertain significance |
| rs6120141 | 20:31,768,655 | T/C | intron variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.