SNRPN

Chr 15

small nuclear ribonucleoprotein polypeptide N

Also known as: HCERN3, PWCR, RT-LI, SM-D, SMN, SNRNP-N, SNURF-SNRPN, sm-N

NCBI Gene: 6638 ENSG00000128739 UniProt: P63162 OMIM: 182279

The protein functions as a component of the small nuclear ribonucleoprotein complex involved in pre-mRNA processing and may contribute to tissue-specific alternative splicing. Mutations or alterations in this paternally-expressed, imprinted gene located in the Prader-Willi syndrome critical region on chromosome 15 are associated with Prader-Willi syndrome and Angelman syndrome. The gene shows low constraint against loss-of-function variants (pLI 0.04, LOEUF 0.83), and these disorders typically present in infancy with distinct neurodevelopmental phenotypes depending on the parent of origin of the genetic alteration.

GeneReviews OMIM ResearchSummary from RefSeq, UniProt

This gene is located within the Prader-Willi Syndrome critical region on chromosome 15 and is imprinted and expressed from the paternal allele. It encodes a component of the small nuclear ribonucleoprotein complex, which functions in pre-mRNA processing and may contribute to tissue-specific alternative splicing. Alternative promoter use and alternative splicing result in a multitude of transcript variants encoding the same protein. Transcript variants that initiate at the CpG island-associated imprinting center may be bicistronic and also encode the SNRPN upstream reading frame protein (SNURF) from an upstream open reading frame. In addition, long spliced transcripts for small nucleolar RNA host gene 14 (SNHG14) may originate from the promoters at this locus and share exons with this gene. Alterations in this region are associated with parental imprint switch failure, which may cause Angelman syndrome or Prader-Willi syndrome. [provided by RefSeq, Mar 2017]

GeneReviews OMIM ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.83

LOEUF

LOF*

Mechanism· G2P

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GeneReview available — SNRPN