SNRNP200 (small nuclear ribonucleoprotein U5 subunit 200)

2015-10-01  

Identity

HGNC
LOCATION
2q11.2
LOCUSID
ALIAS
ASCC3L1,BRR2,HELIC2,RP33,U5-200KD
FUSION GENES

Other Information

Locus ID:

NCBI: 23020
MIM: 601664
HGNC: 30859
Ensembl: ENSG00000144028

Variants:

dbSNP: 23020
ClinVar: 23020
TCGA: ENSG00000144028
COSMIC: SNRNP200

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000144028ENST00000323853O75643
ENSG00000144028ENST00000652267A0A494C1A5

Expression (GTEx)

0
50
100
150
200

Pathways

PathwaySourceExternal ID
SpliceosomeKEGGko03040
SpliceosomeKEGGhsa03040
Spliceosome, 35S U5-snRNPKEGGhsa_M00355
Spliceosome, U4/U6.U5 tri-snRNPKEGGhsa_M00354
Spliceosome, U4/U6.U5 tri-snRNPKEGGM00354
Spliceosome, 35S U5-snRNPKEGGM00355
Gene ExpressionREACTOMER-HSA-74160
Processing of Capped Intron-Containing Pre-mRNAREACTOMER-HSA-72203
mRNA SplicingREACTOMER-HSA-72172
mRNA Splicing - Major PathwayREACTOMER-HSA-72163
mRNA Splicing - Minor PathwayREACTOMER-HSA-72165

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
198789162009Autosomal-dominant retinitis pigmentosa caused by a mutation in SNRNP200, a gene required for unwinding of U4/U6 snRNAs.67
237043702013Inhibition of RNA helicase Brr2 by the C-terminal tail of the spliceosomal protein Prp8.52
230456962012Structural basis for functional cooperation between tandem helicase cassettes in Brr2-mediated remodeling of the spliceosome.39
216183462011Next generation sequencing of pooled samples reveals new SNRNP200 mutations associated with retinitis pigmentosa.27
166126142006A novel locus (RP33) for autosomal dominant retinitis pigmentosa mapping to chromosomal region 2cen-q12.1.25
197104102010Mutations in ASCC3L1 on 2q11.2 are associated with autosomal dominant retinitis pigmentosa in a Chinese family.18
243193342013Mutations in the small nuclear riboprotein 200 kDa gene (SNRNP200) cause 1.6% of autosomal dominant retinitis pigmentosa.14
243026202014Retinitis pigmentosa mutations of SNRNP200 enhance cryptic splice-site recognition.12
230290272012A novel missense SNRNP200 mutation associated with autosomal dominant retinitis pigmentosa in a Chinese family.10
254500072015Inhibition of SNW1 association with spliceosomal proteins promotes apoptosis in breast cancer cells.9

Citation

Dessen P

SNRNP200 (small nuclear ribonucleoprotein U5 subunit 200)

Atlas Genet Cytogenet Oncol Haematol. 2015-10-01

Online version: http://atlasgeneticsoncology.org/gene/55429/snrnp200