DACT2
Chr 6dishevelled binding antagonist of beta catenin 2
Also known as: C6orf116, DAPPER2, DPR2, bA503C24.7
DACT2 encodes a protein that negatively regulates the Nodal signaling pathway during development and controls epithelial cell morphogenesis, particularly in kidney ureteric bud development. Mutations cause syndromic microphthalmia-11, which involves eye malformations and additional developmental anomalies, with autosomal recessive inheritance. The gene shows low constraint to loss-of-function variation, suggesting tolerance to protein-truncating variants.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
The highest-scoring mechanism for this gene is dominant-negative.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
DACT2 · 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