| Primary Identifier | MGI:95523 | Organism | mouse, laboratory |
| Chromosome | 7 | NCBI Gene Number | 14183 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables fibroblast growth factor binding activity. Involved in several processes, including fibroblast growth factor receptor signaling pathway; forebrain generation of neurons; and positive regulation of transcription by RNA polymerase II. Acts upstream of or within several processes, including lung development; morphogenesis of an epithelium; and positive regulation of cell population proliferation. Located in excitatory synapse and nucleus. Is expressed in several structures, including alimentary system; brain; genitourinary system; limb; and sensory organ. Used to study Beare-Stevenson cutis gyrata syndrome; atopic dermatitis; intestinal atresia; and synostosis (multiple). Human ortholog(s) of this gene implicated in several diseases, including Beare-Stevenson cutis gyrata syndrome; breast cancer (multiple); gastrointestinal system cancer (multiple); reproductive organ cancer (multiple); and synostosis (multiple). Orthologous to human FGFR2 (fibroblast growth factor receptor 2). PHENOTYPE: Mice homozygous for null mutations die as embryos. Isoform IIIb deficient mutants die at birth with defects in multiple organs and tissues. Isoform IIIc deficient mutants have defects in osteoblast and chondrocyte lineages, producing dwarfism. [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
