DPPA2

Chr 3

developmental pluripotency associated 2

Also known as: CT100, ECAT15-2, PESCRG1

NCBI Gene: 151871ENSG00000163530UniProt: Q7Z7J5

Predicted to enable chromatin binding activity. Predicted to be involved in system development. Predicted to act upstream of or within several processes, including epigenetic regulation of gene expression; lung-associated mesenchyme development; and positive regulation of stem cell proliferation. Located in nucleoplasm. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…
0
Active trials
12
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.35
LOEUF
—
Mechanism
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.35LOEUF
pLI 0.000
Z-score 0.50
OE 0.87 (0.57–1.35)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.16Z-score
OE missense 0.96 (0.85–1.10)
162 obs / 168.0 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.87 (0.57–1.35)
0≤0.351.4
Missense OE?0.96 (0.85–1.10)
0≤0.61.4
Synonymous OE?0.96
0≤1.21.6
LoF obs/exp: 14 / 16.1Missense obs/exp: 162 / 168.0Syn Z: 0.22

ClinVar Variant Classifications

0 submitted variants in ClinVar

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.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients