NACC2
Chr 9NACC family member 2
Also known as: BEND9, BTBD14, BTBD14A, BTBD31, NAC-2, RBB
The protein functions as a transcriptional repressor that associates with the NuRD complex to repress MDM2 transcription, leading to p53 stabilization. Based on the tolerance metrics provided (pLI = 0.31, LOEUF = 0.75), NACC2 appears relatively tolerant to loss-of-function variants, but no specific disease associations or inheritance patterns are documented in the available data.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
NACC2 · 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