SF3B2
Splicing Factor 3b Subunit 2
Gene Information Card
| Symbol | SF3B2 |
|---|---|
| Full Name | Splicing Factor 3b Subunit 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 11q13.1 |
| NCBI Gene ID | 10992 ncbi.nlm.nih.gov/gene/10992 |
| Ensembl ID | ENSG00000110367 |
| UniProt ID | Q13435 |
| OMIM ID | 605591 |
| HGNC ID | 10771 |
| Aliases | SAP145, SF3b145, Pre-mRNA splicing factor SF3b 145 kDa subunit |
Description
SF3B2 encodes a subunit of the splicing factor 3b complex, which is essential for pre-mRNA splicing. The protein is part of the U2 snRNP and interacts with other spliceosome components to facilitate branch point recognition and spliceosome assembly. Mutations in SF3B2 are associated with hematologic malignancies and developmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Myelodysplastic syndrome | Somatic mutations in SF3B2 alter RNA splicing, leading to aberrant transcripts and disrupted hematopoiesis | ClinVar, COSMIC |
| Acute myeloid leukemia | Recurrent mutations in SF3B2 contribute to leukemogenesis through splicing dysregulation | COSMIC, PubMed |
| Uveal melanoma | SF3B2 mutations are found in a subset of uveal melanomas, affecting splicing of key oncogenes | COSMIC |
| Developmental disorder with hearing loss | Germline loss-of-function variants in SF3B2 cause autosomal dominant hearing loss and developmental delay | OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 38.2 | High |
| Bone marrow | 25.1 | Medium |
| Lymph node | 22.8 | Medium |
| Brain | 15.4 | Medium |
| Liver | 10.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K562 | 32.5 | Leukemia cell line |
| HEK293 | 28.1 | Embryonic kidney |
| HeLa | 26.7 | Cervical carcinoma |
| MCF7 | 20.3 | Breast cancer |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.2156A>G (p.Asn719Ser) | Missense | <1% in AML | Alters splicing of multiple genes |
| c.1873C>T (p.Arg625Trp) | Missense | <1% in MDS | Impaired branch point recognition |
| c.1285G>A (p.Glu429Lys) | Missense | <1% in uveal melanoma | Gain-of-function splicing changes |
Mutation functional classification
Loss of Function (LOF)
Germline truncating variants cause haploinsufficiency leading to developmental disorders.
Gain of Function (GOF)
Recurrent missense mutations in cancer (e.g., p.Glu429Lys) alter splicing fidelity, promoting oncogenic isoforms.
Dominant Negative (DN)
Some missense mutations may interfere with wild-type SF3B2 function in the spliceosome.
View complete mutation data：
Gene Ontology (GO)
| • RNA splicing (GO:0008380) | • mRNA splicing via spliceosome (GO:0000398) |
| • U2 snRNP binding (GO:0030620) | • nucleoplasm (GO:0005654) |
| • nuclear speck (GO:0016607) |
Pathways
• mRNA Splicing - Major Pathway (Reactome: R-HSA-72163)
• Processing of Capped Intron-Containing Pre-mRNA (Reactome: R-HSA-72203)
• Spliceosome (KEGG: hsa03040)
Protein Summary
SF3B2 is a 145 kDa protein component of the SF3b complex within the U2 snRNP. It contains a conserved N-terminal domain that interacts with SF3B1 and other spliceosomal proteins. The protein is essential for branch point adenosine selection and stable U2 snRNP binding to pre-mRNA. Post-translational modifications include phosphorylation, which regulates spliceosome assembly.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SF3B2 (p.K405=) Point Mutation in HAP1 Cell Line | EDC03603 | Human | 10992 | Details Get a Quote |
