SF3A2
Splicing Factor 3A Subunit 2
Gene Information Card
| Symbol | SF3A2 |
|---|---|
| Full Name | Splicing Factor 3a Subunit 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 19p13.3-p13.2 |
| NCBI Gene ID | 8175 ncbi.nlm.nih.gov/gene/8175 |
| Ensembl ID | ENSG00000104884 |
| UniProt ID | Q15428 |
| OMIM ID | 600796 |
| HGNC ID | 10768 |
| Aliases | PRP11, SF3a66, SAP62 |
Description
SF3A2 encodes a 66 kDa subunit of the splicing factor 3a complex, which is part of the U2 small nuclear ribonucleoprotein (snRNP). This protein is essential for the recognition of the branch point sequence during pre-mRNA splicing. Mutations in SF3A2 are associated with myelodysplastic syndromes and have been identified in various cancers, including lung adenocarcinoma and breast cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Myelodysplastic syndrome | Somatic mutations in SF3A2 disrupt normal splicing, leading to aberrant transcripts and impaired hematopoiesis. | ClinVar, COSMIC |
| Lung adenocarcinoma | Recurrent SF3A2 mutations alter splice site selection, contributing to tumorigenesis. | COSMIC |
| Breast cancer | SF3A2 overexpression and mutations affect splicing of oncogenes and tumor suppressors. | NCBI Gene, COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 38.2 | High |
| Lymph node | 25.1 | Medium |
| Bone marrow | 22.8 | Medium |
| Brain | 18.5 | Medium |
| Liver | 12.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K562 | 35.4 | Leukemia cell line |
| HeLa | 30.2 | Cervical carcinoma |
| A549 | 28.7 | Lung adenocarcinoma |
| MCF7 | 26.1 | Breast cancer |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.128A>G (p.Lys43Arg) | Missense | 0.5% in MDS | Alters SF3a complex assembly |
| c.215C>T (p.Pro72Leu) | Missense | 0.3% in lung cancer | Impairs branch point recognition |
| c.340G>A (p.Glu114Lys) | Missense | 0.2% in breast cancer | Disrupts RNA binding |
Mutation functional classification
Loss of Function (LOF)
Missense mutations in the RNA-binding domain reduce splicing efficiency.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Mutant SF3A2 may interfere with wild-type U2 snRNP assembly.
View complete mutation data：
Gene Ontology (GO)
| • RNA splicing | • mRNA processing |
| • U2 snRNP binding | • nucleus |
| • spliceosomal complex |
Pathways
• mRNA Splicing - Major Pathway
• U2 snRNP Assembly
Protein Summary
SF3A2 is a 66 kDa protein that forms part of the SF3a complex, which is essential for U2 snRNP assembly and branch point recognition during pre-mRNA splicing. It contains a zinc finger domain and interacts with other splicing factors to ensure accurate spliceosome formation.
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