SNRNP200

Chr 2

small nuclear ribonucleoprotein U5 subunit 200

Also known as: ASCC3L1, BRR2, HELIC2, RP33, U5-200KD

NCBI Gene: 23020 ENSG00000144028 UniProt: O75643

SNRNP200 encodes an RNA helicase that catalyzes ATP-dependent unwinding of U4/U6 RNA duplexes, an essential step in spliceosome assembly and pre-mRNA splicing. Mutations cause autosomal dominant retinitis pigmentosa 33, a progressive retinal degeneration leading to vision loss. This gene is extremely intolerant to loss-of-function variants (pLI >0.99), indicating that heterozygous inactivating variants are likely pathogenic.

GeneReviews ResearchSummary from RefSeq, OMIM, UniProt

Pre-mRNA splicing is catalyzed by the spliceosome, a complex of specialized RNA and protein subunits that removes introns from a transcribed pre-mRNA segment. The spliceosome consists of small nuclear RNA proteins (snRNPs) U1, U2, U4, U5 and U6, together with approximately 80 conserved proteins. U5 snRNP contains nine specific proteins. This gene encodes one of the U5 snRNP-specific proteins. This protein belongs to the DEXH-box family of putative RNA helicases. It is a core component of U4/U6-U5 snRNPs and appears to catalyze an ATP-dependent unwinding of U4/U6 RNA duplices. Mutations in this gene cause autosomal-dominant retinitis pigmentosa. Alternatively spliced transcript variants encoding different isoforms have been found, but the full-length nature of these variants has not been determined. [provided by RefSeq, Mar 2010]

GeneReviews ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtRetinitis pigmentosa 33

Clinical highlights

Gene-disease validity (ClinGen)

SNRNP200-related dominant retinopathy · ADDefinitivesufficient evidence for diagnostic panels

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)

—

P/LP submissions

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P/LP missense

0.08

LOEUF· LoF intol.

Multiple*

Mechanism· predicted

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GeneReview available — SNRNP200