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 8.0.0) 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; positive regulation of macromolecule biosynthetic process; and protein phosphorylation. Located in nucleus. Is expressed in several structures, including axial skeleton; cranium; early conceptus; genitourinary system; and thymus primordium. Used to study type 1 diabetes mellitus. Human ortholog(s) of this gene implicated in several diseases, including IgA glomerulonephritis; autoimmune disease (multiple); gastrointestinal system cancer (multiple); genital herpes; 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] |