IDI2
Chr 10isopentenyl-diphosphate delta isomerase 2
Also known as: IPPI2
The protein catalyzes the conversion of isopentenyl diphosphate to dimethylallyl diphosphate, a key step in cholesterol and isoprenoid biosynthesis. Mutations cause sterol biosynthesis defect with corpus callosum agenesis, cataracts, and growth restriction, inherited in an autosomal recessive pattern. This gene is not highly constrained against loss-of-function variants, which is consistent with the recessive inheritance pattern observed clinically.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
ClinVar Variant Classifications
92 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 29 | 0 | 29 |
Likely Pathogenic | 0 | 0 | 2 | 0 | 2 |
VUS | 0 | 36 | 14 | 0 | 50 |
Likely Benign | 0 | 3 | 1 | 0 | 4 |
Benign | 0 | 0 | 0 | 0 | 0 |
| Total | 0 | 39 | 46 | 0 | 85 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
IDI2 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
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