SRSF8
Serine and Arginine Rich Splicing Factor 8
Gene Information Card
| Symbol | SRSF8 |
|---|---|
| Full Name | Serine and Arginine Rich Splicing Factor 8 |
| Gene Type | Protein coding |
| Chromosomal Location | 11q12.3 |
| NCBI Gene ID | 6433 ncbi.nlm.nih.gov/gene/6433 |
| Ensembl ID | ENSG00000149295 |
| UniProt ID | Q9BRL6 |
| OMIM ID | 601945 |
| HGNC ID | 10787 |
| Aliases | SRP46, SFRS2B, SRP46C |
Description
SRSF8 (Serine and Arginine Rich Splicing Factor 8) is a protein-coding gene that encodes a member of the serine/arginine (SR)-rich family of pre-mRNA splicing factors. The protein is involved in constitutive and alternative splicing, regulating splice site selection and spliceosome assembly. SRSF8 is localized to the nucleus and interacts with other splicing factors to modulate RNA processing.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Altered splicing of oncogenes and tumor suppressors; SRSF8 overexpression may promote tumorigenesis | COSMIC; PMID: 23582326 |
| Lung cancer | Dysregulation of alternative splicing affecting cell proliferation and apoptosis | COSMIC; PMID: 25691885 |
| Colorectal cancer | SRSF8 mutations and expression changes linked to splicing defects in cancer-related genes | COSMIC; PMID: 27060141 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Lymph node | 10.8 | Medium |
| Spleen | 9.5 | Medium |
| Brain | 6.3 | Low |
| Liver | 4.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 12.5 | Embryonic kidney cells |
| HeLa | 11.0 | Cervical cancer cells |
| A549 | 9.8 | Lung cancer cells |
| MCF7 | 8.2 | Breast cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.344G>A (p.Arg115His) | Missense | <0.01% | Altered RNA binding affinity; potential splicing dysregulation |
| c.487C>T (p.Arg163Trp) | Missense | <0.01% | Reduced nuclear localization; loss of function |
| c.601_603del (p.Lys201del) | In-frame deletion | <0.01% | Impaired interaction with spliceosome components |
Mutation functional classification
Loss of Function (LOF)
Missense mutations (e.g., p.Arg163Trp) reduce nuclear localization and splicing activity.
Gain of Function (GOF)
Not reported in literature.
Dominant Negative (DN)
Not reported in literature.
View complete mutation data：
Gene Ontology (GO)
| • RNA binding (GO:0003723) | • via spliceosome (GO:0000398) |
| • nucleus (GO:0005634) | • protein binding (GO:0005515) |
| • via spliceosome (GO:0000380) |
Pathways
• mRNA Splicing - Major Pathway (Reactome: R-HSA-72163)
• Processing of Capped Intron-Containing Pre-mRNA (Reactome: R-HSA-72203)
Protein Summary
SRSF8 is a 269-amino acid protein (UniProt Q9BRL6) belonging to the SR protein family. It contains an N-terminal RNA recognition motif (RRM) and a C-terminal serine/arginine-rich (RS) domain. The protein shuttles between the nucleus and cytoplasm, but predominantly localizes to nuclear speckles. It promotes exon inclusion by binding to exonic splicing enhancers and recruiting U1 snRNP to the 5' splice site. Post-translational phosphorylation by SRPK and CLK kinases regulates its activity and subcellular localization.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SRSF8 Knockout HEK293 Cell Line | EDJ-KQ7216 | Human | 10929 | Details Get a Quote |
| SRSF8 Knockout A-549 Cell Line | EDJ-KQ32170 | Human | 10929 | Details Get a Quote |
| SRSF8 Knockout HCT 116 Cell Line | EDJ-KQ32171 | Human | 10929 | Details Get a Quote |
| SRSF8 Knockout HeLa Cell Line | EDJ-KQ30798 | Human | 10929 | Details Get a Quote |
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