CAMTA2
Chr 17calmodulin binding transcription activator 2
CAMTA2 encodes a calmodulin-binding transcription activator that regulates gene expression, particularly genes involved in cardiac growth, and may function as a tumor suppressor. Mutations cause autosomal dominant developmental delay, intellectual disability, and congenital heart defects with highly variable expressivity. This gene is highly constrained against loss-of-function variants, indicating that such mutations are likely to be pathogenic when they occur.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Mild missense constraint
The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
CAMTA2 · 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