ING2

Chr 4

inhibitor of growth family member 2

Also known as: ING1L, ING1Lp, p33ING2

NCBI Gene: 3622 ENSG00000168556 UniProt: Q9H160 OMIM: 604215

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.

OMIM ResearchSummary from RefSeq, UniProt

This gene is a member of the inhibitor of growth (ING) family. Members of the ING family associate with and modulate the activity of histone acetyltransferase (HAT) and histone deacetylase (HDAC) complexes and function in DNA repair and apoptosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]

OMIM ResearchGenerating clinical summary…

LOFmechanismLOEUF 0.48

Clinical Summary— ING2

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Population Constraint (gnomAD)

Moderately constrained gene (pLI 0.73) — some intolerance to loss-of-function variants.

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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Moderate LoF intolerance

LoF Constraint?

0.48LOEUF

pLI 0.729

Z-score 2.83

OE 0.15 (0.06–0.48)

Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?

1.74Z-score

OE missense 0.59 (0.50–0.71)

87 obs / 146.2 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.15 (0.06–0.48)

0≤0.351.4

Missense OE?0.59 (0.50–0.71)

0≤0.61.4

Synonymous OE?0.92

0≤1.21.6

LoF obs/exp: 2 / 13.0Missense obs/exp: 87 / 146.2Syn Z: 0.47

This gene — mechanism propensity

0.4090th %ile

GOF

0.3094th %ile

LOF

0.72top 10%

The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).

LOFprediction above median · LOEUF 0.48

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.