| Primary Identifier | MGI:893598 | Organism | mouse, laboratory |
| Chromosome | 5 | NCBI Gene Number | 16923 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables protein tyrosine kinase binding activity; signaling receptor complex adaptor activity; and stem cell factor receptor binding activity. Involved in several processes, including cellular response to cytokine stimulus; megakaryocyte development; and negative regulation of signal transduction. Acts upstream of or within with a negative effect on cellular response to chemokine. Acts upstream of or within embryonic hemopoiesis; hematopoietic stem cell differentiation; and intracellular signal transduction. Predicted to be active in plasma membrane. Is expressed in aorta-gonad-mesonephros; dorsal aorta; liver; lower jaw molar; and upper jaw molar. Used to study chronic myeloid leukemia. Human ortholog(s) of this gene implicated in colorectal cancer; essential thrombocythemia; familial erythrocytosis 1; myelofibrosis; and type 1 diabetes mellitus. Orthologous to human SH2B3 (SH2B adaptor protein 3). PHENOTYPE: Mice homozygous for a knock-out allele exhibit severe perturbations in hematopoiesis, splenomegaly, and abnormal lymphoid and myeloid homeostasis. Mice homozygous for a different knock-out allele display altered mobility of hematopoietic stem/progenitor cells. [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
