SH3BP2 Gene Summary [Human]
The protein encoded by this gene has an N-terminal pleckstrin homology (PH) domain, an SH3-binding proline-rich region, and a C-terminal SH2 domain. The protein binds to the SH3 domains of several proteins including the ABL1 and SYK protein tyrosine kinases , and functions as a cytoplasmic adaptor protein to positively regulate transcriptional activity in T, natural killer (NK), and basophilic cells. Mutations in this gene result in cherubism. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]
Details
| Type | Protein Coding |
| Official Symbol | SH3BP2 |
| Official Name | SH3 domain binding protein 2 [Source:HGNC Symbol;Acc:HGNC:10825] |
| Ensembl ID | ENSG00000087266 |
| Bio databases IDs | |
| Aliases | SH3 domain binding protein 2 |
| Synonyms | 3BP-2, CRBM, CRPM, RES4-23, SH3-domain binding protein 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 SH3BP2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- PH domain
- Src homology 2 (SH2) domain
- phosphotyrosine binding
- protein binding
- Pleckstrin homology-like domain
- PR domain
- proline rich domain
- SH3-domain binding
- phosphorylation site
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- SH3BP2-related cherubism
- multiple sclerosis
- osteoarthritis
- cherubism
- IgA nephropathy
- Hodgkin lymphoma
- Hodgkin disease
role in cell
- proliferation
- expression in
- phosphorylation in
- growth
- upregulation in
- number
- apoptosis
- activation in
- differentiation
- osteogenic differentiation
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
- cellular membrane
- Plasma Membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human SH3BP2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- signal transduction
Molecular Function
What the gene product does at the molecular level
- phosphotyrosine binding
- protein binding
- SH3 domain binding