XRN2

Chr 20

5'-3' exoribonuclease 2

NCBI Gene: 22803 ENSG00000088930 UniProt: Q9H0D6

The protein encoded by this gene is a 5'-3' exoribonuclease that promotes transcription termination by RNA polymerase II through degradation of cleaved RNA fragments. Biallelic pathogenic variants cause Chudley-McCullough syndrome, an autosomal recessive disorder characterized by early-onset sensorineural hearing loss and brain malformations including hydrocephalus, agenesis of the corpus callosum, and colpocephaly. The gene is highly constrained against loss-of-function variants (LOEUF 0.355), indicating that such variants are likely to be pathogenic.

ResearchSummary from RefSeq, UniProt

This gene encodes a 5'-3' exonuclease that promotes transcription termination at cotranscriptional cleavage sites. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]

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

0.35

LOEUF

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Mechanism

Some data sources returned errors (1)

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