| Primary Identifier | MGI:99511 | Organism | mouse, laboratory |
| Chromosome | 5 | NCBI Gene Number | 19247 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables cell adhesion molecule binding activity; non-membrane spanning protein tyrosine phosphatase activity; and signaling receptor binding activity. Involved in several processes, including negative regulation of chondrocyte differentiation; positive regulation of cytokine production; and positive regulation of lipopolysaccharide-mediated signaling pathway. Acts upstream of or within several processes, including cell surface receptor signaling pathway; myeloid cell differentiation; and regulation of hormone secretion. Is active in cytosol. Is expressed in several structures, including alimentary system; brain; genitourinary system; hemolymphoid system gland; and retina. Used to study several diseases, including Noonan syndrome 1; hepatocellular adenoma; idiopathic scoliosis; intrinsic cardiomyopathy (multiple); and juvenile myelomonocytic leukemia. Human ortholog(s) of this gene implicated in several diseases, including Noonan syndrome (multiple); Noonan syndrome with multiple lentigines 1; atrophic gastritis; juvenile myelomonocytic leukemia; and metachondromatosis. Orthologous to human PTPN11 (protein tyrosine phosphatase non-receptor type 11). PHENOTYPE: Homozygous null mutants exhibit abnormal mesoderm patterning leading to a failure of gastrulation and death by embryonic day 10.5. In heterozygous state, the null mutant acts as a dominant enhancer of a mild epidermal growth factor receptor mutation. Conditional KO in the eye results in severe retinal degeneration. [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
