ING2

Chr 4

inhibitor of growth family member 2

Also known as: ING1L, ING1Lp, p33ING2

NCBI Gene: 3622 ENSG00000168556 UniProt: Q9H160

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.

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]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.48

LOEUF

LOF

Mechanism· predicted

Some data sources returned errors (1)

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