| Primary Identifier | MGI:98397 | Organism | mouse, laboratory |
| Chromosome | 2 | NCBI Gene Number | 20779 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.0.0) Enables several functions, including connexin binding activity; ephrin receptor binding activity; and scaffold protein binding activity. Involved in several processes, including bone resorption; interleukin-6-mediated signaling pathway; and positive regulation of signal transduction. Acts upstream of or within several processes, including cellular response to platelet-derived growth factor stimulus; positive regulation of protein metabolic process; and regulation of signal transduction. Located in several cellular components, including actin cytoskeleton; focal adhesion; and ruffle membrane. Is expressed in several structures, including central nervous system; early conceptus; genitourinary system; gut; and retina. Used to study Williams-Beuren syndrome. Human ortholog(s) of this gene implicated in colorectal cancer (multiple); ductal carcinoma in situ; prostate cancer; thrombocytopenia; and type 2 diabetes mellitus. Orthologous to human SRC (SRC proto-oncogene, non-receptor tyrosine kinase). PHENOTYPE: Homozygotes for a targeted null mutation exhibit growth retardation, failure of tooth eruption, osteopetrosis with lack of secondary bone resorption, and lethality at 3-4 weeks. [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
