NOC2L
Chr 1NOC2 like nucleolar associated transcriptional repressor
Also known as: NET15, NET7, NIR, PPP1R112
The NOC2L protein inhibits histone acetyltransferase activity and acts as a transcription corepressor, particularly regulating p53-mediated gene expression and apoptosis. The gene shows minimal constraint against loss-of-function variants, suggesting that complete loss of NOC2L function may be tolerated. Currently, no definitive human disease associations have been established for NOC2L mutations in clinical practice.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
ClinVar Variant Classifications
342 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 | 116 | 0 | 116 |
Likely Pathogenic | 0 | 0 | 5 | 0 | 5 |
VUS | 0 | 152 | 14 | 0 | 166 |
Likely Benign | 0 | 11 | 1 | 6 | 18 |
Benign | 0 | 0 | 5 | 5 | 10 |
| Total | 0 | 163 | 141 | 11 | 315 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
NOC2L · 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