Gene: SNRNP200

Alternate names for this Gene: ASCC3L1|BRR2|HELIC2|RP33|U5-200KD

Gene Summary: 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.

Gene is located in Chromosome: 2

Location in Chromosome : 2q11.2

Description of this Gene: small nuclear ribonucleoprotein U5 subunit 200

Type of Gene: protein-coding

rs772178 in SNRNP200 gene and Diastolic blood pressure PMID 27618452 2016 The genetics of blood pressure regulation and its target organs from association studies in 342,415 individuals.

rs186291940 in SNRNP200 gene and Eosinophil count procedure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs1457428682 in SNRNP200 gene and RETINITIS PIGMENTOSA 33 (disorder) PMID 21618346 2011 Next generation sequencing of pooled samples reveals new SNRNP200 mutations associated with retinitis pigmentosa.

PMID 19878916 2009 Autosomal-dominant retinitis pigmentosa caused by a mutation in SNRNP200, a gene required for unwinding of U4/U6 snRNAs.

PMID 23045696 2012 Structural basis for functional cooperation between tandem helicase cassettes in Brr2-mediated remodeling of the spliceosome.

PMID 23887765 2013 Contribution of SNRNP200 sequence variations to retinitis pigmentosa.

PMID 16723661 2006 The network of protein-protein interactions within the human U4/U6.U5 tri-snRNP.

PMID 23029027 2012 A novel missense SNRNP200 mutation associated with autosomal dominant retinitis pigmentosa in a Chinese family.

PMID 19710410 2010 Mutations in ASCC3L1 on 2q11.2 are associated with autosomal dominant retinitis pigmentosa in a Chinese family.

PMID 24319334 2013 Mutations in the small nuclear riboprotein 200 kDa gene (SNRNP200) cause 1.6% of autosomal dominant retinitis pigmentosa.

rs267607077 in SNRNP200 gene and Retinitis Pigmentosa PMID 19878916 2009 The c.3260C>T substitution showed complete cosegregation with the retinitis pigmentosa (RP) phenotype over four generations, but was absent in a panel of 400 controls.