BPIFB2
Chr 20BPI fold containing family B member 2
Also known as: BPIL1, C20orf184, LPLUNC2, RYSR, dJ726C3.2
This gene encodes a member of the lipid transfer/lipopolysaccharide binding protein family that is highly expressed in hypertrophic tonsils. BPIFB2 is extremely intolerant to loss-of-function variants (pLI near 1.0), but no established human disease associations have been reported for this gene. The clinical significance of BPIFB2 variants in pediatric patients remains unknown.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
ClinVar Variant Classifications
101 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 14 | 0 | 14 |
Likely Pathogenic | 0 | 0 | 4 | 0 | 4 |
VUS | 0 | 65 | 2 | 0 | 67 |
Likely Benign | 0 | 8 | 0 | 1 | 9 |
Benign | 0 | 0 | 1 | 0 | 1 |
| Total | 0 | 73 | 21 | 1 | 95 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
BPIFB2 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →No open access results found
External Resources
Links to major genomics databases and tools