ING4

Chr 12

inhibitor of growth family member 4

Also known as: my036, p29ING4

This gene encodes a tumor suppressor protein that functions as a component of HBO1 complexes to acetylate histone H3 and regulate chromatin remodeling, while also modulating cell proliferation pathways and enhancing apoptosis. Pathogenic variants in ING4 have been associated with neurodevelopmental disorders, though the clinical spectrum and inheritance patterns are still being characterized. The gene shows low constraint against loss-of-function variants, suggesting tolerance to haploinsufficiency.

Summary from RefSeq, UniProt
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0
Active trials
10
Pubs (1 yr)
0
P/LP submissions
P/LP missense
0.74
LOEUF
DN
Mechanism· predicted
Clinical SummaryING4
Population Constraint (gnomAD)
Low constraint (pLI 0.03) — loss-of-function variants are relatively tolerated in the population.

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint
0.74LOEUF
pLI 0.029
Z-score 2.27
OE 0.35 (0.180.74)
Tolerant

Typical tolerance to LoF variation

Missense Constraint
1.81Z-score
OE missense 0.58 (0.490.70)
88 obs / 150.6 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.35 (0.180.74)
00.351.4
Missense OE0.58 (0.490.70)
00.61.4
Synonymous OE0.84
01.21.6
LoF obs/exp: 5 / 14.2Missense obs/exp: 88 / 150.6Syn Z: 0.87
DN
0.6646th %ile
GOF
0.4875th %ile
LOF
0.4233th %ile

The highest-scoring mechanism for this gene is dominant-negative.

DNprediction above median

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

ING4 · 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

No active trials found for this gene.

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Clinical Literature
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