ADARB2

Chr 10

adenosine deaminase RNA specific B2 (inactive)

Also known as: ADAR3, RED2

NCBI Gene: 105 ENSG00000185736 UniProt: Q9NS39

The protein is an RNA-binding enzyme that regulates RNA editing by competing with other adenosine deaminases and also stabilizes specific mRNAs to control protein expression. Mutations cause autosomal recessive developmental and epileptic encephalopathy with onset in infancy, characterized by severe intellectual disability, refractory seizures, and progressive brain atrophy. The gene is highly constrained against loss-of-function variants, indicating that complete loss of protein function is likely incompatible with normal development.

ResearchSummary from RefSeq, UniProt

This gene encodes a member of the double-stranded RNA adenosine deaminase family of RNA-editing enzymes and may play a regulatory role in RNA editing. [provided by RefSeq, Jul 2008]

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

0.38

LOEUF

LOF

Mechanism· predicted

Some data sources returned errors (1)

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