PAN2

Chr 12AR

poly(A) specific ribonuclease subunit PAN2

Also known as: DEDCRF, USP52

NCBI Gene: 9924 ENSG00000135473 UniProt: Q9HBH5 OMIM: 617447

The protein functions as a deadenylase and catalytic subunit of the polyadenylate binding protein dependent poly(A) nuclease complex, acting as a magnesium-dependent 3' to 5' exoribonuclease involved in cytoplasmic mRNA degradation. Biallelic mutations cause autosomal recessive developmental delay with variable cardiac and renal congenital anomalies and dysmorphic facies. The gene is highly constrained against loss-of-function variants (pLI 0.94, LOEUF 0.32), indicating that haploinsufficiency is likely not tolerated in the general population.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a deadenylase that functions as the catalytic subunit of the polyadenylate binding protein dependent poly(A) nuclease complex. The encoded protein is a magnesium dependent 3' to 5' exoribonuclease that is involved in the degradation of cytoplasmic mRNAs. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Developmental delay with variable cardiac and renal congenital anomalies and dysmorphic faciesMIM #621384

Clinical highlights

Gene-disease validity (ClinGen)

syndromic complex neurodevelopmental disorder · ARModerateconsider for supplementary testing

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.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.32

LOEUF· LoF intol.

LOF

Mechanism· predicted