NRIP2
Chr 12nuclear receptor interacting protein 2
Also known as: NIX1
NRIP2 encodes a protein that down-regulates transcriptional activation by nuclear receptors and is predicted to have aspartic-type endopeptidase activity involved in proteolysis and Notch signaling. Mutations cause autosomal recessive intellectual disability with microcephaly, seizures, and spasticity. This gene shows strong constraint against loss-of-function variants, indicating intolerance to haploinsufficiency.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
ClinVar Variant Classifications
134 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 | 60 | 0 | 60 |
Likely Pathogenic | 0 | 0 | 3 | 0 | 3 |
VUS | 0 | 60 | 5 | 0 | 65 |
Likely Benign | 0 | 3 | 1 | 0 | 4 |
Benign | 0 | 0 | 0 | 0 | 0 |
| Total | 0 | 63 | 69 | 0 | 132 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
NRIP2 · 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