SYF2 Pre-mRNA Splicing Factor
A key regulator of RNA splicing and cell cycle progression
Gene Information Card
| Symbol | SYF2 |
|---|---|
| Full Name | SYF2 pre-mRNA splicing factor |
| Gene Type | Protein coding |
| Chromosomal Location | 1p36.11 |
| NCBI Gene ID | 25949 ncbi.nlm.nih.gov/gene/25949 |
| Ensembl ID | ENSG00000117650 |
| UniProt ID | O95926 |
| OMIM ID | 617789 |
| HGNC ID | 11476 |
| Aliases | CBPIN, NTC31, fSAP29, SYF2 homolog, splicing factor |
Description
SYF2 (SYF2 pre-mRNA splicing factor) is a protein-coding gene that encodes a component of the spliceosome, specifically the NTC (Nineteen complex) and C complex. It is involved in pre-mRNA splicing, cell cycle regulation, and may play a role in DNA damage response. The protein interacts with CDC5L and PLRG1, and its expression is associated with various cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Overexpression of SYF2 promotes cell proliferation and inhibits apoptosis; may involve splicing regulation of oncogenes | PMID: 25944712 |
| Lung cancer | SYF2 knockdown reduces cell growth and induces G1 arrest; potential oncogenic role | PMID: 26909592 |
| Hepatocellular carcinoma | SYF2 upregulation correlates with poor prognosis; promotes cell cycle progression | PMID: 28341828 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Lymph node | 10.2 | Medium |
| Bone marrow | 9.8 | Medium |
| Brain | 6.3 | Low |
| Liver | 5.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.3 | High expression |
| HeLa | 12.1 | Moderate expression |
| MCF7 | 11.8 | Moderate expression |
| A549 | 10.5 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | <0.1% | Unknown effect |
| c.100C>T | Nonsense | <0.1% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations may lead to truncated protein and loss of splicing function.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • mRNA splicing | • via spliceosome |
| • RNA binding | • spliceosomal complex |
| • nucleus | • cell cycle |
| • protein binding |
Pathways
• mRNA Splicing - Major Pathway
• Cell Cycle
• Mitotic
Protein Summary
SYF2 is a 29 kDa protein (259 amino acids) that localizes to the nucleus and is part of the spliceosomal C complex. It contains a conserved domain (DUF1115) and interacts with CDC5L and PLRG1. The protein is essential for pre-mRNA splicing and cell cycle progression, with overexpression linked to tumorigenesis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SYF2 Knockout HEK293 Cell Line | EDJ-KQ51153 | Human | 25949 | Details Get a Quote |
| SYF2 Knockout HeLa Cell Line | EDJ-KQ55855 | Human | 25949 | Details Get a Quote |
| SYF2 Knockout A-549 Cell Line | EDJ-KQ64346 | Human | 25949 | Details Get a Quote |
| SYF2 Knockout HCT 116 Cell Line | EDJ-KQ72798 | Human | 25949 | Details Get a Quote |
