Primary Identifier | MGI:88380 | Organism | mouse, laboratory |
Chromosome | 2 | NCBI Gene Number | 14061 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables serine-type endopeptidase activity. Involved in G protein-coupled receptor signaling pathway; ligand-gated ion channel signaling pathway; and positive regulation of insulin secretion. Acts upstream of or within several processes, including platelet activation; positive regulation of cell growth; and positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction. Located in collagen-containing extracellular matrix. Is expressed in several structures, including adrenal gland; gonad; liver; musculoskeletal system; and yolk sac endoderm. Human ortholog(s) of this gene implicated in several diseases, including X-linked recessive disease (multiple); appendicitis; artery disease (multiple); autoimmune disease (multiple); and thrombophilia (multiple). Orthologous to human F2 (coagulation factor II, thrombin). PHENOTYPE: Homozygotes for targeted null mutations exhibit defects in yolk sac vasculature, internal bleeding, tissue necrosis, and die in mid- to late-gestation, or rarely, a few days after birth. [provided by MGI curators] |