| Primary Identifier | MGI:96677 | Organism | mouse, laboratory |
| Chromosome | 5 | NCBI Gene Number | 16590 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables SH2 domain binding activity; protease binding activity; and stem cell factor receptor activity. Involved in several processes, including detection of mechanical stimulus involved in sensory perception of sound; erythropoietin-mediated signaling pathway; and hemopoiesis. Acts upstream of or within several processes, including hematopoietic progenitor cell differentiation; positive regulation of macromolecule metabolic process; and positive regulation of mast cell proliferation. Located in cell-cell junction and external side of plasma membrane. Is expressed in several structures, including alimentary system; central nervous system; early conceptus; embryo mesenchyme; and genitourinary system. Used to study gastrointestinal stromal tumor; macrocytic anemia; mastocytosis; and piebaldism. Human ortholog(s) of this gene implicated in several diseases, including gastrointestinal stromal tumor; germ cell cancer (multiple); mastocytosis; piebaldism; and renal cell carcinoma. Orthologous to human KIT (KIT proto-oncogene, receptor tyrosine kinase). PHENOTYPE: Mutations at this locus affect migration of embryonic stem cell populations, resulting in mild to severe impairments in hematopoiesis, and pigmentation. Some alleles are homozygous lethal, sterile, or result in the formation of gastrointestinal tumors. [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
