Database of mammalian genes
Home

Home Search Browse Statistics User guide FAQs Links Questions Contribute Download


Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for SNRNP200 (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID23020
Official gene symbolSNRNP200
Full namesmall nuclear ribonucleoprotein 200kDa (U5)
Aliases,ASCC3L1,BRR2,FLJ11521,HELIC2,RP33,U5-200KD,
Gene summaryPre-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]
LocationChromosome: 2   Locus: 2q11.2
Gene position96971297 - 96940074  Map Viewer
Gene orientationminus
Gene size31224 bp
Gene sequence
OMIM ID601664