ITPRIPL2
Chr 16ITPRIP like 2
Also known as: D1C
The ITPRIPL2 protein is predicted to be located in cellular membranes, though its specific function remains unclear. Mutations in this gene cause autosomal recessive developmental and epileptic encephalopathy with severe intellectual disability and early-onset seizures. The gene is highly constrained against loss-of-function variants, suggesting that complete loss of protein function is likely pathogenic.
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
ITPRIPL2 · 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