NRIP2

Chr 12

nuclear receptor interacting protein 2

Also known as: NIX1

NCBI Gene: 83714ENSG00000053702UniProt: Q9BQI9OMIM: 621054

Predicted to enable aspartic-type endopeptidase activity. Predicted to be involved in proteolysis. Predicted to act upstream of or within Notch signaling pathway and negative regulation of transcription by RNA polymerase II. Located in cytoplasm. [provided by Alliance of Genome Resources, Jul 2025]

OMIMResearchGenerating clinical summary…
0
Active trials
1
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.54
LOEUF
—
Mechanism

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.54LOEUF
pLI 0.000
Z-score -0.03
OE 1.01 (0.67–1.54)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-1.04Z-score
OE missense 1.23 (1.09–1.38)
200 obs / 162.7 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?1.01 (0.67–1.54)
0≤0.351.4
Missense OE?1.23 (1.09–1.38)
0≤0.61.4
Synonymous OE?1.09
0≤1.21.6
LoF obs/exp: 15 / 14.9Missense obs/exp: 200 / 162.7Syn Z: -0.57

ClinVar Variant Classifications

0 submitted variants in ClinVar

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.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients