NFRKB

Chr 11

nuclear factor related to kappaB binding protein

Also known as: INO80G

NCBI Gene: 4798 ENSG00000170322 UniProt: Q6P4R8

The protein binds to specific DNA sequences and functions in chromatin remodeling and regulation of chromosome organization as part of the Ino80 complex. NFRKB mutations cause autosomal recessive neurodevelopmental disorders with intellectual disability and developmental delay. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.368), suggesting some intolerance to complete protein loss.

ResearchSummary from RefSeq, UniProt

Enables protease binding activity. Involved in several processes, including positive regulation of DNA-templated transcription; regulation of DNA metabolic process; and regulation of chromosome organization. Located in Ino80 complex and nucleoplasm. [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)

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P/LP submissions

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P/LP missense

0.37

LOEUF

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Mechanism

Some data sources returned errors (1)

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