SBF2 Gene Summary [Human]
This gene encodes a pseudophosphatase and member of the myotubularin-related protein family. This gene maps within the CMT4B2 candidate region of chromosome 11p15 and mutations in this gene have been associated with Charcot-Marie-Tooth Disease, type 4B2. [provided by RefSeq, Jul 2008]
Details
| Type | Nonsense Mediated Decay |
| Official Symbol | SBF2 |
| Official Name | SET binding factor 2 [Source:HGNC Symbol;Acc:HGNC:2135] |
| Ensembl ID | ENSG00000133812 |
| Bio databases IDs | |
| Aliases | SET binding factor 2, myotubularin related 13 |
| Synonyms | 4833411B01Rik, B430219L04RIK, CMT4B2, DENND7B, LOC691036, mMTMH1, MTMR13, RGD1559442, SET binding factor 2 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human SBF2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Myotubularin protein
- Myotubularin-like phosphatase domain
- coiled-coil domain
- protein binding
- Pleckstrin homology-like domain
- PTP_DSP_cys
- identical protein binding
- phosphatase regulator
- phosphatidylinositol binding
- DENN (AEX-3) domain
- guanyl-nucleotide exchange factor
- Stabilization of polarity axis
- dDENN domain
- PH domain
- PDZ binding motif
- uDENN domain
- phosphatase binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- acute myeloid leukemia
- hypertension
- essential hypertension
- Charcot-Marie-Tooth disease type 4
- breast carcinoma
- pancreatic carcinoma
- pancreatic epithelial cancer
- overall survival
- non-insulin-dependent diabetes mellitus
- congestive heart failure
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- plasma membrane fraction
- early endosomal fractions
- cellular membrane
- vacuole
- cytosol
- late endosomes
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human SBF2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- autophagy
- myelination
Cellular Component
Where in the cell the gene product is active
- perinuclear region of cytoplasm
- cytoplasm
- membrane
- cytosol
- endosome membrane
- vacuolar membrane
- axon
Molecular Function
What the gene product does at the molecular level
- phosphatase binding
- phosphatase regulator activity
- identical protein binding
- protein binding
- guanyl-nucleotide exchange factor activity
- phosphatidylinositol binding