DIS3L2

Chr 2

DIS3 like 3'-5' exoribonuclease 2

Also known as: FAM6A, PRLMNS, hDIS3L2

NCBI Gene: 129563 ENSG00000144535 UniProt: Q8IYB7

DIS3L2 encodes a 3'-5'-exoribonuclease that degrades polyuridylated RNAs, including mRNAs and miRNAs, and is essential for proper mitosis and cell proliferation regulation. Biallelic mutations cause Perlman syndrome, an autosomal recessive overgrowth disorder with neonatal onset. This gene is highly constrained against loss-of-function variants in the population.

ResearchSummary from RefSeq, OMIM, UniProt

The protein encoded by this gene is similar in sequence to 3'/5' exonucleolytic subunits of the RNA exosome. The exosome is a large multimeric ribonucleotide complex responsible for degrading various RNA substrates. Several transcript variants, some protein-coding and some not, have been found for this gene. [provided by RefSeq, Mar 2012]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtPerlman syndrome

Clinical highlights

Gene-disease validity (ClinGen)

Perlman syndrome · ARDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.33

LOEUF· LoF intol.

LOF

Mechanism· G2P

Some data sources returned errors (1)

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