NPPB
natriuretic peptide B
Summary
This gene is a member of the natriuretic peptide family and encodes a secreted protein which functions as a cardiac hormone. The protein undergoes two cleavage events, one within the cell and a second after secretion into the blood. The protein's biological actions include natriuresis, diuresis, vasorelaxation, inhibition of renin and aldosterone secretion, and a key role in cardiovascular homeostasis. A high concentration of this protein in the bloodstream is indicative of heart failure. The presence of myocardial injury is a significant predictor of mortality in hospitalized coronavirus disease 2019 (COVID-19) patients, and there is evidence of increased levels of natriuretic peptide B in hospitalized non-survivor COVID-19 patients. The protein also acts as an antimicrobial peptide with antibacterial and antifungal activity. Mutations in this gene have been associated with postmenopausal osteoporosis. [provided by RefSeq, Aug 2020]
Known Variants19 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs198388 | 1:11,917,340 | C/T | downstream gene variant | — |
| rs367805474 | 1:11,917,719 | C/T | — | uncertain significance |
| rs141128240 | 1:11,918,261 | G/T | — | benign |
| rs762932355 | 1:11,918,279 | C/T | — | uncertain significance |
| rs2523233839 | 1:11,918,342 | A/G | — | uncertain significance |
| rs749132971 | 1:11,918,364 | G/A | — | uncertain significance |
| rs35640285 | 1:11,918,379 | C/A | — | benign |
| rs781280195 | 1:11,918,391 | G/A | — | uncertain significance |
| rs1175294119 | 1:11,918,402 | C/T | — | uncertain significance |
| rs188227104 | 1:11,918,421 | G/A | — | uncertain significance |
| rs35690395 | 1:11,918,422 | G/A | — | benign |
| rs770603725 | 1:11,918,435 | C/T | — | uncertain significance |
| rs61761991 | 1:11,918,444 | C/T | — | benign |
| rs570474795 | 1:11,918,471 | G/A | — | uncertain significance |
| rs371722685 | 1:11,918,509 | C/A | — | uncertain significance |
| rs5227 | 1:11,918,817 | C/A | — | benign |
| rs35628673 | 1:11,918,837 | A/G | — | benign |
| rs148807468 | 1:11,918,866 | G/A | — | uncertain significance |
| rs198389 | 1:11,919,271 | A/G | regulatory region variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.