| Primary Identifier | MGI:103062 | Organism | mouse, laboratory |
| Chromosome | 1 | NCBI Gene Number | 20849 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 9.1.0) Enables DNA-binding transcription activator activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Acts upstream of or within several processes, including hematopoietic stem cell homeostasis; protein phosphorylation; and regulation of gene expression. Is active in cytoplasm and nucleus. Is expressed in several structures, including 2-cell stage conceptus; 4-cell stage embryo; axial skeleton; cranium; and genitourinary system. Used to study type 1 diabetes mellitus. Human ortholog(s) of this gene implicated in several diseases, including Behcet's disease; autoimmune disease of musculoskeletal system (multiple); liver disease (multiple); myositis (multiple); and scleroderma (multiple). Orthologous to human STAT4 (signal transducer and activator of transcription 4). PHENOTYPE: Homozygous inactivation of this gene leads to altered cytokine production of T-cells, impaired IL-12 responses, enhanced Th2 cell development, decreased susceptibility to autoimmune diabetes, altered NK cell responses during viral infection, and increased susceptibility to Salmonella infection. [provided by MGI curators] |