ING2
Chr 4inhibitor of growth family member 2
Also known as: ING1L, ING1Lp, p33ING2
The ING2 protein functions as a component of histone acetyltransferase and histone deacetylase complexes, regulating chromatin modification and participating in DNA repair and p53-mediated apoptotic pathways. Mutations in ING2 cause autosomal dominant intellectual disability with behavioral abnormalities and seizures, typically presenting in early childhood. The gene shows moderate constraint against loss-of-function variants (pLI = 0.73, LOEUF = 0.48), suggesting intolerance to complete protein loss.
Some data sources returned errors (1)
pubtator: TimeoutError: The operation was aborted due to timeout
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.
ClinVar Variant Classifications
121 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 | 89 | 0 | 89 |
Likely Pathogenic | 0 | 0 | 8 | 0 | 8 |
VUS | 0 | 18 | 6 | 0 | 24 |
Likely Benign | 0 | 0 | 0 | 0 | 0 |
Benign | 0 | 0 | 0 | 0 | 0 |
| Total | 0 | 18 | 103 | 0 | 121 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
ING2 · 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