SNRPB2
Small Nuclear Ribonucleoprotein Polypeptide B2
Gene Information Card
| Symbol | SNRPB2 |
|---|---|
| Full Name | Small Nuclear Ribonucleoprotein Polypeptide B2 |
| Gene Type | Protein coding |
| Chromosomal Location | 20p12.1 |
| NCBI Gene ID | 6629 ncbi.nlm.nih.gov/gene/6629 |
| Ensembl ID | ENSG00000125870 |
| UniProt ID | P08579 |
| OMIM ID | 603522 |
| HGNC ID | 11155 |
| Aliases | U2B'', U2 snRNP B'' |
Description
SNRPB2 encodes the B2 polypeptide (U2B'') of the U2 small nuclear ribonucleoprotein (snRNP) complex, a core component of the spliceosome. This protein binds directly to the U2 snRNA stem-loop IV and is essential for pre-mRNA splicing. Alternative splicing of SNRPB2 itself produces multiple transcript variants.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Retinitis pigmentosa | Mutations in SNRPB2 disrupt U2 snRNP assembly, impairing splicing of retinal transcripts | ClinVar |
| Cancer (pan-cancer) | Altered SNRPB2 expression affects splicing of oncogenes and tumor suppressors | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 28.5 | High |
| Brain | 15.2 | Medium |
| Heart | 12.8 | Medium |
| Liver | 10.1 | Medium |
| Lung | 9.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 22.3 | High expression |
| HeLa | 18.7 | High expression |
| K562 | 14.1 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Loss of start codon, likely loss of function |
| c.214G>A (p.Gly72Arg) | Missense | <0.01% | Impaired U2 snRNA binding |
Mutation functional classification
Loss of Function (LOF)
Missense mutations in the RNA-binding domain reduce U2 snRNP assembly and splicing efficiency.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • RNA binding | • U2 snRNP binding |
| • pre-mRNA splicing | • spliceosomal complex assembly |
| • nucleus |
Pathways
• Spliceosome (KEGG hsa03040)
• mRNA Splicing - Major Pathway (Reactome R-HSA-72163)
Protein Summary
The SNRPB2 protein (U2B'') is a 225-amino-acid polypeptide that forms a stable complex with U2 snRNA and the U2A' protein. It contains an N-terminal RNA recognition motif (RRM) that specifically recognizes stem-loop IV of U2 snRNA. This interaction is critical for the assembly of the U2 snRNP and subsequent spliceosome activation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SNRPB2 Knockout HEK293 Cell Line | EDJ-KQ15408 | Human | 6629 | Details Get a Quote |
| SNRPB2 Knockout A-549 Cell Line | EDJ-KQ46182 | Human | 6629 | Details Get a Quote |
| SNRPB2 Knockout HCT 116 Cell Line | EDJ-KQ46183 | Human | 6629 | Details Get a Quote |
| SNRPB2 Knockout HeLa Cell Line | EDJ-KQ44932 | Human | 6629 | Details Get a Quote |
