SNRNP200
U5 small nuclear ribonucleoprotein 200 kDa helicase
Gene Information Card
| Symbol | SNRNP200 |
|---|---|
| Full Name | Small nuclear ribonucleoprotein U5 subunit 200 |
| Gene Type | protein-coding |
| Chromosomal Location | 2q11.2 |
| NCBI Gene ID | 23020 ncbi.nlm.nih.gov/gene/23020 |
| Ensembl ID | ENSG00000144028 |
| UniProt ID | O75643 |
| OMIM ID | 601664 |
| HGNC ID | 30852 |
| Aliases | BRR2, RP33, U5-200KD, ASCC3L1 |
Description
SNRNP200 encodes a 200 kDa helicase component of the U5 small nuclear ribonucleoprotein (snRNP) complex, a key part of the spliceosome. The protein catalyzes ATP-dependent RNA unwinding required for spliceosome activation and pre-mRNA splicing. Mutations in SNRNP200 are associated with autosomal dominant retinitis pigmentosa 33 (RP33).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Retinitis pigmentosa 33 (RP33) | Dominant-negative mutations impair spliceosome recycling, leading to retinal degeneration | ClinVar, OMIM |
| Retinitis pigmentosa (non-syndromic) | Missense mutations in helicase domains disrupt U5 snRNP function | NCBI Gene, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 25.6 | High |
| Retina | 18.3 | High |
| Brain | 12.1 | Medium |
| Heart | 10.5 | Medium |
| Liver | 8.2 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 22.4 | Ubiquitous expression |
| HeLa | 19.8 | High |
| K562 | 15.3 | Moderate |
| HepG2 | 14.1 | Moderate |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.3260C>T (p.Ser1087Leu) | Missense | <0.01% | Dominant-negative; reduces helicase activity; RP33 |
| c.2041G>A (p.Val681Met) | Missense | <0.01% | Impairs U5 snRNP assembly; RP33 |
| c.3260C>G (p.Ser1087Cys) | Missense | <0.01% | Alters ATP binding; RP33 |
Mutation functional classification
Loss of Function (LOF)
Not reported; homozygous loss likely lethal
Gain of Function (GOF)
Not reported
Dominant Negative (DN)
Yes; missense mutations in helicase domains impair spliceosome recycling, causing RP33
View complete mutation data：
Gene Ontology (GO)
| • ATP binding | • RNA helicase activity |
| • spliceosomal complex assembly | • mRNA splicing |
| • via spliceosome | • U5 snRNP binding |
Pathways
• Spliceosome (KEGG hsa03040)
• mRNA Splicing - Major Pathway (Reactome R-HSA-72163)
Protein Summary
SNRNP200 (BRR2) is a 200 kDa RNA helicase that forms part of the U5 snRNP. It unwinds U4/U6 snRNA duplex during spliceosome activation. The protein contains two helicase domains (DExD/H-box and Sec63) and is essential for pre-mRNA splicing. Mutations in the helicase domains cause autosomal dominant retinitis pigmentosa 33.
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