ING5

Chr 2

inhibitor of growth family member 5

Also known as: p28ING5

NCBI Gene: 84289 ENSG00000168395 UniProt: Q8WYH8

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.

GeneReviews ResearchSummary from RefSeq, UniProt

This gene encodes a tumor suppressor protein that inhibits cell growth and induces apoptosis. This protein contains a PHD-type zinc finger. It interacts with tumor suppressor p53 and p300, a component of the histone acetyl transferase complex, suggesting a role in transcriptional regulation. Alternative splicing and the use of multiple promoters and 3' terminal exons results in multiple transcript variants. [provided by RefSeq, Aug 2016]

GeneReviews 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

Mechanism· predicted

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GeneReview available — ING5

Authoritative clinical overview · Recommended first read