Primary Identifier | MGI:104637 | Organism | mouse, laboratory |
Chromosome | 5 | NCBI Gene Number | 21814 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Enables several functions, including PDZ domain binding activity; transforming growth factor beta binding activity; and transforming growth factor beta receptor activity. Involved in several processes, including definitive erythrocyte differentiation; heart development; and positive regulation of SMAD protein signal transduction. Acts upstream of or within several processes, including negative regulation of apoptotic process involved in morphogenesis; positive regulation of transmembrane receptor protein serine/threonine kinase signaling pathway; and vasculogenesis. Located in cell surface and endoplasmic reticulum. Is expressed in several structures, including brain; early conceptus; heart; jaw; and ovary. Orthologous to human TGFBR3 (transforming growth factor beta receptor 3). PHENOTYPE: Mice homozygous for disruptions in this gene usually die as embryos. The very few individuals that survive are poorly fertile with abnormalities of the spleen, liver, heart, and skeletal system. [provided by MGI curators] |