ING5
Chr 2inhibitor of growth family member 5
Also known as: p28ING5
The ING5 protein is a component of histone acetyltransferase complexes that acetylates histones H3 and H4 to regulate chromatin structure and gene transcription, and also functions as a tumor suppressor by inhibiting cell growth and promoting apoptosis. Mutations cause an autosomal recessive neurodevelopmental disorder with intellectual disability and dysmorphic features. This gene is highly constrained against loss-of-function variants, indicating that complete loss of protein function is likely to be severely detrimental.
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 dominant-negative.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
ING5 · 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