SBF2 Gene - SET Binding Factor 2
Genetic and Functional Insights into SBF2
Gene Information Card
| Symbol | SBF2 |
|---|---|
| Full Name | SET binding factor 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 11p15.4 |
| NCBI Gene ID | 81846 ncbi.nlm.nih.gov/gene/81846 |
| Ensembl ID | ENSG00000133818 |
| UniProt ID | Q86WG5 |
| OMIM ID | 607697 |
| HGNC ID | 10828 |
| Aliases | MTMR13, CMT4B2, DENND7C, KIAA1763 |
Description
SBF2 (SET binding factor 2) encodes a member of the myotubularin-related protein family, functioning as a pseudophosphatase that lacks catalytic activity but regulates endosomal trafficking and phosphoinositide signaling. It is involved in peripheral nerve myelination and maintenance. Mutations in SBF2 cause Charcot-Marie-Tooth disease type 4B2 (CMT4B2), an autosomal recessive demyelinating neuropathy.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Charcot-Marie-Tooth disease type 4B2 (CMT4B2) | Loss-of-function mutations impair endosomal trafficking and myelin outfoldings, leading to demyelinating neuropathy. | ClinVar, OMIM |
| Charcot-Marie-Tooth disease type 4B1 (CMT4B1) | Mutations in MTMR2 (related gene) cause similar phenotype; SBF2 mutations are allelic to CMT4B2. | OMIM |
| Hereditary motor and sensory neuropathy | SBF2 variants associated with peripheral neuropathy. | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 5.2 | Low |
| Peripheral nerve | 8.1 | Medium |
| Testis | 12.3 | Medium |
| Skeletal muscle | 3.4 | Low |
| Heart | 4.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 6.5 | Neuronal model |
| HeLa (cervical carcinoma) | 4.1 | Epithelial |
| HEK293 (embryonic kidney) | 3.8 | Renal epithelial |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.2085C>G (p.Tyr695*) | Nonsense | Rare | Loss of function; associated with CMT4B2 |
| c.3250C>T (p.Arg1084Trp) | Missense | Rare | Impaired protein stability; pathogenic |
| c.4714C>T (p.Arg1572*) | Nonsense | Rare | Truncation; loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated protein or nonsense-mediated decay; associated with CMT4B2.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported; disease is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • phosphatidylinositol-3 | • 5-bisphosphate phosphatase activity |
| • protein binding | • endosome membrane |
| • early endosome | • late endosome |
| • endosomal transport | • regulation of phosphatidylinositol dephosphorylation |
| • myelination |
Pathways
• Phosphatidylinositol phosphate metabolism
• Endosomal trafficking
• Myotubularin-related protein signaling
Protein Summary
SBF2 (MTMR13) is a 1849-amino acid pseudophosphatase of the myotubularin family. It contains a GRAM domain, a coiled-coil region, and a catalytically inactive phosphatase domain. It heterodimerizes with active myotubularins (e.g., MTMR2) to regulate phosphoinositide levels on endosomal membranes, crucial for Schwann cell myelination and axonal maintenance.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SBF2 Knockout HEK293 Cell Line | EDJ-KQ9760 | Human | 81846 | Details Get a Quote |
| SBF2 Knockout A-549 Cell Line | EDJ-KQ36592 | Human | 81846 | Details Get a Quote |
| SBF2 Knockout HCT 116 Cell Line | EDJ-KQ36593 | Human | 81846 | Details Get a Quote |
| SBF2 Knockout HeLa Cell Line | EDJ-KQ36594 | Human | 81846 | Details Get a Quote |
