U2SURP Gene - U2 snRNP Associated SURP Domain Containing
Comprehensive genomic and functional annotation of U2SURP, a spliceosomal component involved in RNA processing.
Gene Information Card
| Symbol | U2SURP |
|---|---|
| Full Name | U2 snRNP associated SURP domain containing |
| Gene Type | protein-coding |
| Chromosomal Location | 3p14.3 |
| NCBI Gene ID | 23350 ncbi.nlm.nih.gov/gene/23350 |
| Ensembl ID | ENSG00000163738 |
| UniProt ID | Q15042 |
| OMIM ID | 617617 |
| HGNC ID | 29263 |
| Aliases | SR140, U2SURP1, FLJ10305 |
Description
U2SURP (U2 snRNP associated SURP domain containing) is a protein-coding gene that encodes a component of the U2 snRNP spliceosomal complex. The protein contains SURP (splicing factor, arginine/serine-rich) domains and is involved in pre-mRNA splicing, particularly in the recognition of the branch point and assembly of the spliceosome. U2SURP is widely expressed and has been implicated in cancer and developmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Altered splicing of oncogenes and tumor suppressors due to U2SURP dysregulation | PMID: 25691885 |
| Colorectal cancer | U2SURP overexpression correlates with poor prognosis and splicing changes | PMID: 30397376 |
| Neurodevelopmental disorders | De novo missense variants in U2SURP associated with intellectual disability | PMID: 31036916 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Brain | 10.8 | Medium |
| Lung | 8.5 | Low |
| Liver | 6.3 | Low |
| Heart | 5.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 12.4 | High expression |
| HeLa | 9.7 | Moderate expression |
| K562 | 7.2 | Low expression |
| MCF7 | 11.1 | High expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Trp) | Missense | <0.01% | Unknown; predicted damaging |
| c.567_568del (p.Glu190fs) | Frameshift | <0.01% | Loss of function |
| c.890A>G (p.Asn297Ser) | Missense | <0.01% | Unknown; predicted benign |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations are predicted to cause loss of function, potentially impairing spliceosome assembly.
Gain of Function (GOF)
No gain-of-function mutations have been reported for U2SURP.
Dominant Negative (DN)
No dominant-negative mutations have been characterized for U2SURP.
View complete mutation data：
Gene Ontology (GO)
| • mRNA splicing (GO:0000398) | • spliceosomal complex (GO:0005681) |
| • protein binding (GO:0005515) | • RNA binding (GO:0003723) |
| • cadherin binding (GO:0045296) |
Pathways
• mRNA Splicing - Major Pathway (Reactome: R-HSA-72163)
• Processing of Capped Intron-Containing Pre-mRNA (Reactome: R-HSA-72203)
Protein Summary
The U2SURP protein (UniProt Q15042) is 1,045 amino acids long and contains two SURP domains and a U2AF homology motif (UHM). It localizes to the nucleus and associates with the U2 snRNP complex, facilitating branch point recognition during pre-mRNA splicing. The protein interacts with splicing factors such as SF3B1 and U2AF2. Alternative splicing of U2SURP itself generates multiple isoforms.
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