NCOA7

Chr 6

nuclear receptor coactivator 7

Also known as: ERAP140, ESNA1, NCOA7-AS, Nbla00052, Nbla10993, TLDC4, dJ187J11.3

NCBI Gene: 135112 ENSG00000111912 UniProt: Q8NI08

This protein functions as a transcriptional coactivator that enhances the activity of nuclear receptors including estrogen, thyroid hormone, peroxisome proliferator-activated, and retinoic acid receptors. Mutations cause autosomal recessive infantile liver failure syndrome 3, which presents in early infancy with severe hepatic dysfunction. The gene is highly intolerant to loss-of-function variants, indicating that both functional copies are essential for normal development.

ResearchSummary from RefSeq, UniProt

Enables nuclear receptor binding activity and transcription coactivator activity. Involved in positive regulation of transcription by RNA polymerase II. Predicted to be located in mitochondrion. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Jun 2026]

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

0.52

LOEUF

Mechanism· predicted

Some data sources returned errors (1)

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