Primary Identifier | MGI:88177 | Organism | mouse, laboratory |
Chromosome | 2 | NCBI Gene Number | 12156 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables cytokine activity and protein serine/threonine kinase activator activity. Involved in several processes, including BMP signaling pathway; heart development; and mesenchymal cell proliferation involved in ureteric bud development. Acts upstream of or within several processes, including forebrain development; heart development; and positive regulation of cell differentiation. Located in extracellular space. Is active in extracellular region and plasma membrane. Is expressed in several structures, including alimentary system; central nervous system; genitourinary system; heart; and limb. Human ortholog(s) of this gene implicated in several diseases, including bone disease (multiple); hemochromatosis type 1; otosclerosis; short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1; and tooth agenesis. Orthologous to human BMP2 (bone morphogenetic protein 2). PHENOTYPE: Homozygous null mutants die at embryonic day 7.5-9 with failure of the proamniotic canal to close and abnormal development of the heart in the exocoelomic cavity. [provided by MGI curators] |