| Primary Identifier | MGI:1346349 | Organism | mouse, laboratory |
| Chromosome | 5 | NCBI Gene Number | 24055 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) 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). PHENOTYPE: Nullizygous mutations may lead to higher pre-B cell numbers and impaired B cell receptor signaling or thymus-independent type 2 humoral responses. Homozygosity for a knock-in allele causes premature death, enhanced osteoclast differentiation and TNF production, systemic bone loss and inflammation. [provided by MGI curators] |
Features --> Cross References
Canonical gene --> CDSs in specific strains.
Canonical gene --> Exons in specific strains
Canonical gene --> Strain-specific IDs, biotypes, and locations
Canonical gene --> Transcripts in specific strains.
Features --> Overlapping features
