Identity
HGNC
LOCATION
2q11.2
LOCUSID
ALIAS
ASCC3L1,BRR2,HELIC2,RP33,U5-200KD
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 23020
MIM: 601664
HGNC: 30859
Ensembl: ENSG00000144028
Variants:
dbSNP: 23020
ClinVar: 23020
TCGA: ENSG00000144028
COSMIC: SNRNP200
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000144028 | ENST00000323853 | O75643 |
| ENSG00000144028 | ENST00000652267 | A0A494C1A5 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38517341 | 2024 | Tracing Allostery in the Spliceosome Ski2-like RNA Helicase Brr2. | 0 |
| 38605034 | 2024 | PRPF8-mediated dysregulation of hBrr2 helicase disrupts human spliceosome kinetics and 5´-splice-site selection causing tissue-specific defects. | 0 |
| 38517341 | 2024 | Tracing Allostery in the Spliceosome Ski2-like RNA Helicase Brr2. | 0 |
| 38605034 | 2024 | PRPF8-mediated dysregulation of hBrr2 helicase disrupts human spliceosome kinetics and 5´-splice-site selection causing tissue-specific defects. | 0 |
| 34048711 | 2021 | Long-range allostery mediates cooperative adenine nucleotide binding by the Ski2-like RNA helicase Brr2. | 2 |
| 34048711 | 2021 | Long-range allostery mediates cooperative adenine nucleotide binding by the Ski2-like RNA helicase Brr2. | 2 |
| 31914407 | 2020 | The inactive C-terminal cassette of the dual-cassette RNA helicase BRR2 both stimulates and inhibits the activity of the N-terminal helicase unit. | 8 |
| 33203369 | 2020 | Depletion of SNRNP200 inhibits the osteo-/dentinogenic differentiation and cell proliferation potential of stem cells from the apical papilla. | 3 |
| 31914407 | 2020 | The inactive C-terminal cassette of the dual-cassette RNA helicase BRR2 both stimulates and inhibits the activity of the N-terminal helicase unit. | 8 |
| 33203369 | 2020 | Depletion of SNRNP200 inhibits the osteo-/dentinogenic differentiation and cell proliferation potential of stem cells from the apical papilla. | 3 |
| 30558886 | 2019 | FBP21's C-Terminal Domain Remains Dynamic When Wrapped around the c-Sec63 Unit of Brr2 Helicase. | 2 |
| 31260034 | 2019 | Genotype-Phenotype Analysis of a Novel Recessive and a Recurrent Dominant SNRNP200 Variant Causing Retinitis Pigmentosa. | 4 |
| 30558886 | 2019 | FBP21's C-Terminal Domain Remains Dynamic When Wrapped around the c-Sec63 Unit of Brr2 Helicase. | 2 |
| 31260034 | 2019 | Genotype-Phenotype Analysis of a Novel Recessive and a Recurrent Dominant SNRNP200 Variant Causing Retinitis Pigmentosa. | 4 |
| 29087248 | 2018 | Variability in clinical phenotypes of PRPF8-linked autosomal dominant retinitis pigmentosa correlates with differential PRPF8/SNRNP200 interactions. | 7 |
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-(small-nuclear-ribonucleoprotein-u5-subunit-200)
