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SNRNP200

Chr 2q11.2

small nuclear ribonucleoprotein U5 subunit 200

Aliases:
U5-200KD, HELIC2, KIAA0788, Brr2
MANE:
ENST00000323853.10
OMIM: 601664 ↗NCBI: 23020 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Retinal disorders

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

  • Glaucoma (developmental)

  • Structural eye disease

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

  • retinitis pigmentosa

    0.82

  • Retinal dystrophy

    0.63

  • autosomal dominant retinitis pigmentosa

    0.51

  • neurodegenerative disease

    0.40

  • eye disorder

    0.37

  • inherited retinal dystrophy

    0.37

  • dengue disease

    0.37

  • retinal disorder

    0.27

  • cervical carcinoma

    0.24

  • hereditary disease

    0.19

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

U5 small nuclear ribonucleoprotein 200 kDa helicase

Catalyzes the ATP-dependent unwinding of U4/U6 RNA duplices, an essential step in the assembly of a catalytically active spliceosome (PubMed:35241646). Plays a role in pre-mRNA splicing as a core component of precatalytic, catalytic and postcatalytic spliceosomal complexes (PubMed:28502770, PubMed:28781166, PubMed:29301961, PubMed:29360106, PubMed:29361316, PubMed:30315277, PubMed:30705154, PubMed:30728453). As a component of the minor spliceosome, involved in the splicing of U12-type introns in pre-mRNAs (Probable). Involved in spliceosome assembly, activation and disassembly. Mediates changes in the dynamic network of RNA-RNA interactions in the spliceosome

Diseases associated with SNRNP200

Curated MONDO disease pages that list SNRNP200 among their top associated genes.

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.