SF3B6
Splicing Factor 3b Subunit 6
Gene Information Card
| Symbol | SF3B6 |
|---|---|
| Full Name | Splicing Factor 3b Subunit 6 |
| Gene Type | protein-coding |
| Chromosomal Location | 2p23.3 |
| NCBI Gene ID | 51639 ncbi.nlm.nih.gov/gene/51639 |
| Ensembl ID | ENSG00000115128 |
| UniProt ID | Q9Y3B4 |
| OMIM ID | 607836 |
| HGNC ID | 10746 |
| Aliases | P14, SF3B14, SAP14, HSPC175 |
Description
SF3B6 encodes the p14 subunit of the splicing factor 3b complex, which is a component of the U2 small nuclear ribonucleoprotein (snRNP). This protein is essential for pre-mRNA splicing, specifically recognizing the branch point adenosine during spliceosome assembly. SF3B6 is involved in the early steps of spliceosome formation and is critical for accurate intron excision.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Retinitis pigmentosa (autosomal dominant) | Mutations in SF3B6 disrupt U2 snRNP function, leading to aberrant splicing of retinal genes | ClinVar, OMIM |
| Myelodysplastic syndrome (MDS) | Somatic mutations in SF3B6 (rare) may alter RNA splicing in hematopoietic cells | COSMIC, literature |
| Chronic lymphocytic leukemia (CLL) | Recurrent SF3B6 mutations (e.g., p.Glu66Lys) affect splicing factor activity | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Lymph node | 10.2 | Medium |
| Brain (cortex) | 8.9 | Medium |
| Liver | 6.3 | Low |
| Heart | 5.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K562 (leukemia) | 14.3 | High expression |
| HeLa (cervical) | 11.7 | Medium expression |
| HepG2 (liver) | 7.8 | Low expression |
| A549 (lung) | 9.2 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.197A>G (p.Glu66Lys) | Missense | <0.1% (COSMIC) | Alters SF3B6 interaction with SF3B1, linked to CLL |
| c.208G>A (p.Gly70Arg) | Missense | <0.1% (COSMIC) | Reported in MDS, potential gain-of-function |
| c.1A>G (p.Met1Val) | Start loss | Rare | Loss of protein expression, associated with retinitis pigmentosa |
Mutation functional classification
Loss of Function (LOF)
Start-loss mutations (e.g., p.Met1Val) abolish SF3B6 translation, leading to haploinsufficiency and retinal degeneration.
Gain of Function (GOF)
Missense mutations (e.g., p.Glu66Lys) may enhance or alter splicing activity, contributing to oncogenesis.
Dominant Negative (DN)
Some SF3B6 mutations (e.g., p.Gly70Arg) may interfere with wild-type U2 snRNP assembly, disrupting normal splicing.
View complete mutation data：
Gene Ontology (GO)
| • RNA splicing | • mRNA processing |
| • spliceosomal complex assembly | • U2 snRNP binding |
| • nucleus |
Pathways
• mRNA Splicing - Major Pathway
• U2 snRNP Assembly
• Spliceosome
Protein Summary
SF3B6 (p14) is a 125-amino-acid protein that binds directly to the branch point adenosine in pre-mRNA. It is a core component of the U2 snRNP and the SF3b complex. The protein contains an RNA recognition motif (RRM) and is essential for the first catalytic step of splicing. Its expression is ubiquitous, with higher levels in testis and lymphoid tissues. Mutations are linked to retinitis pigmentosa and hematologic malignancies.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SF3B6 Knockout HEK293 Cell Line | EDJ-KQ51336 | Human | 51639 | Details Get a Quote |
| SF3B6 Knockout HeLa Cell Line | EDJ-KQ56339 | Human | 51639 | Details Get a Quote |
| SF3B6 Knockout A-549 Cell Line | EDJ-KQ64827 | Human | 51639 | Details Get a Quote |
| SF3B6 Knockout HCT 116 Cell Line | EDJ-KQ73272 | Human | 51639 | Details Get a Quote |
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