| Primary Identifier | MGI:103035 | Organism | mouse, laboratory |
| Chromosome | 11 | NCBI Gene Number | 20851 |
| 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; RNA polymerase II cis-regulatory region sequence-specific DNA binding activity; and protein dimerization activity. Involved in cellular response to growth factor stimulus and growth hormone receptor signaling pathway via JAK-STAT. Acts upstream of with a positive effect on taurine metabolic process. Acts upstream of or within several processes, including lymphocyte differentiation; positive regulation of defense response; and positive regulation of lymphocyte activation. Located in cytoplasm and nucleus. Is expressed in several structures, including blastocyst-stage conceptus; brain; genitourinary system; gut; and hemolymphoid system gland. Human ortholog(s) of this gene implicated in colon adenocarcinoma; colorectal adenocarcinoma; growth hormone insensitivity syndrome with immune dysregulation 1; and growth hormone insensitivity syndrome with immune dysregulation 2. Orthologous to human STAT5B (signal transducer and activator of transcription 5B). PHENOTYPE: Mice homozygous for disruptions in this gene are reduced in size and mammary glands secrete reduced levels of some milk proteins during lactation. The p.Y665F mutation leads to enlarged spleen and cell number increases in various lymphocyte types, whereas the p.Y665H mutation leads to the opposite. Homozygosity for a phosphorylation-blocking mutation affects T cell proliferation and leads to lower body weight in males. [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
