DPPA2
Chr 3developmental pluripotency associated 2
Also known as: CT100, ECAT15-2, PESCRG1
DPPA2 encodes a chromatin-binding protein that binds to target gene promoters and maintains active epigenetic status of genes involved in development. The gene is highly constrained against loss-of-function variants (pLI ~0, LOEUF 1.36), but no definitive human disease associations have been established in the provided data. Current evidence suggests involvement in developmental processes and stem cell regulation, but clinical phenotypes from DPPA2 mutations require further characterization.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
DPPA2 · 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 →External Resources
Links to major genomics databases and tools