Sh3bp2 Gene Summary [Mouse]
Enables SH3 domain binding activity. Predicted to be involved in signal transduction. Is expressed in brain and spinal cord. Used to study cherubism. Human ortholog(s) of this gene implicated in cherubism. Orthologous to human SH3BP2 (SH3 domain binding protein 2). [provided by Alliance of Genome Resources, Jul 2025]
Details
| Type | Protein Coding |
| Official Symbol | Sh3bp2 |
| Official Name | SH3-domain binding protein 2 [Source:MGI Symbol;Acc:MGI:1346349] |
| Ensembl ID | ENSMUSG00000054520 |
| Bio databases IDs | |
| Aliases | SH3-domain binding protein 2 |
| Synonyms | 3BP-2, CRBM, CRPM, RES4-23, SH3-domain binding protein 2 |
| Species | Mouse, Mus musculus |
| 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 mouse 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
phenotypes
- extramedullary hemopoiesis
- hyperplasia
- short tibia
- abnormal B cell number
- abnormal B cell physiology
- abnormal bone ossification
- abnormal bone structure
- abnormal circulating cytokine level
- abnormal compact bone morphology
- abnormal craniofacial bone morphology
- abnormal enzyme/coenzyme level
- abnormal immune system organ morphology
- abnormal interleukin-6 secretion
- abnormal jaw morphology
- abnormal long bone morphology
- abnormal macrophage physiology
- abnormal marginal zone B cell physiology
- abnormal neurocranium morphology
- abnormal osteoclast differentiation
- abnormal osteoclast physiology
- abnormal skeleton morphology
- abnormal skeleton physiology
- abnormal spleen marginal zone morphology
- alveolar process atrophy
- blepharitis
- decreased B cell proliferation
- decreased B-1 B cell number
- decreased IgA level
- decreased IgG1 level
- decreased IgG3 level
- decreased IgM level
- decreased bone mineral density
- decreased bone trabecula number
- decreased immunoglobulin level
- decreased pro-B cell number
- decreased trabecular bone volume
- decreased transitional stage B cell number
- decreased tumor necrosis factor secretion
- dermatitis
- enlarged lymph nodes
- head/neck swellings
- impaired macrophage phagocytosis
- increased B cell apoptosis
- increased bone mass
- increased bone mineral density
- increased bone trabecula number
- increased circulating interleukin-12 level
- increased circulating interleukin-6 level
- increased circulating tumor necrosis factor level
- increased compact bone thickness
- increased inflammatory response
- increased marginal zone B cell number
- increased monocyte cell number
- increased osteoblast cell number
- increased osteoclast cell number
- increased pre-B cell number
- increased spleen red pulp amount
- increased susceptibility to bacterial infection
- increased trabecular bone thickness
- increased trabecular bone volume
- increased tumor necrosis factor secretion
- joint inflammation
- liver inflammation
- lung inflammation
- myositis
- osteomyelitis
- premature death
- spinal cord inflammation
- stomach inflammation
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 mouse 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