NCOA2

Chr 8

nuclear receptor coactivator 2

Also known as: GRIP1, KAT13C, NCoA-2, SRC-2, SRC2, TIF2, bHLHe75

NCBI Gene: 10499 ENSG00000140396 UniProt: Q15596

The NCOA2 protein functions as a transcriptional coactivator for nuclear hormone receptors, including steroid, thyroid, retinoid, and vitamin D receptors, and plays a critical role in glucose metabolism regulation and circadian clock function. Mutations in NCOA2 cause neurodevelopmental disorders with variable features including intellectual disability, developmental delay, and growth abnormalities, typically with autosomal dominant inheritance. This gene is highly constrained against loss-of-function variants in the general population, indicating that such mutations are likely to be pathogenic when they occur.

ResearchSummary from RefSeq, UniProt

The protein encoded by this gene functions as a transcriptional coactivator for nuclear hormone receptors, including steroid, thyroid, retinoid, and vitamin D receptors. The encoded protein acts as an intermediary factor for the ligand-dependent activity of these nuclear receptors, which regulate their target genes upon binding of cognate response elements. This gene has been found to be involved in translocations that result in fusions with other genes in various cancers, including the lysine acetyltransferase 6A (KAT6A) gene in acute myeloid leukemia, the ETS variant 6 (ETV6) gene in acute lymphoblastic leukemia, and the hes related family bHLH transcription factor with YRPW motif 1 (HEY1) gene in mesenchymal chondrosarcoma. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]

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

0.12

LOEUF· LoF intol.

LOF

Mechanism· predicted

Some data sources returned errors (1)

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