Primary Identifier | MGI:102806 | Organism | mouse, laboratory |
Chromosome | 2 | NCBI Gene Number | 11480 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables several functions, including PDZ domain binding activity; activin binding activity; and transmembrane receptor protein serine/threonine kinase activity. Involved in BMP signaling pathway. Acts upstream of or within several processes, including Sertoli cell proliferation; copulation; and regionalization. Located in cell surface. Is active in plasma membrane. Is expressed in several structures, including central nervous system; early conceptus; gonad; gut; and sensory organ. Used to study Weissenbacher-Zweymuller syndrome. Human ortholog(s) of this gene implicated in Lynch syndrome and colon cancer. Orthologous to human ACVR2A (activin A receptor type 2A). PHENOTYPE: While most mice homozygous for targeted mutations that inactivate this gene appear normal, a few display skeletal and facial abnormalities. As adults, follicle-stimulating hormone is suppressed, affecting reproduction. [provided by MGI curators] |