CSRNP3
Chr 2cysteine and serine rich nuclear protein 3
Also known as: FAM130A2, MBU1, PPP1R73, TAIP-2, TAIP2
CSRNP3 encodes a transcriptional activator that binds specific DNA sequences and promotes apoptosis. Mutations cause autosomal recessive neurodevelopmental disorders with intellectual disability, seizures, and brain malformations. The gene shows high constraint against loss-of-function variants (LOEUF 0.445), indicating intolerance to inactivating mutations.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
CSRNP3 · 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