RAI2
Chr Xretinoic acid induced 2
This gene encodes a retinoic acid-induced protein with unknown specific function but likely involvement in development. Mutations cause X-linked intellectual disability with variable features that may include seizures, autism spectrum disorder, and developmental delays. The gene shows X-linked inheritance and high constraint against loss-of-function variants (LOEUF 0.66), suggesting intolerance to disruption.
Disputed — evidence questions this relationship
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Tolerant to missense variation
The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
208 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 | 69 | 0 | 69 |
Likely Pathogenic | 0 | 0 | 2 | 0 | 2 |
VUS | 0 | 73 | 11 | 0 | 84 |
Likely Benign | 0 | 2 | 0 | 4 | 6 |
Benign | 0 | 1 | 0 | 4 | 5 |
| Total | 0 | 76 | 82 | 8 | 166 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
RAI2 · 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