PGBD2
Chr 1piggyBac transposable element derived 2
PGBD2 encodes a transposase protein derived from piggyBac transposable elements, though its exact cellular function remains unknown. The gene is highly constrained against loss-of-function variants (pLI ~0), suggesting it plays an essential role in human biology. Currently, no human diseases have been definitively associated with PGBD2 mutations in the medical literature.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
ClinVar Variant Classifications
190 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 | 58 | 0 | 58 |
Likely Pathogenic | 0 | 0 | 5 | 0 | 5 |
VUS | 0 | 109 | 8 | 0 | 117 |
Likely Benign | 0 | 1 | 1 | 0 | 2 |
Benign | 0 | 0 | 1 | 0 | 1 |
| Total | 0 | 110 | 73 | 0 | 183 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
PGBD2 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
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