Go Annotations as Summary Text (Tabular View) (GO Graph)

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Automated description from the Alliance of Genome Resources (Release 7.4.0)

Enables several functions, including SMAD binding activity; transforming growth factor beta binding activity; and transforming growth factor beta receptor activity. Involved in several processes, including circulatory system development; positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formation; and skeletal system development. Acts upstream of or within several processes, including cell surface receptor signaling pathway; positive regulation of tolerance induction; and respiratory system development. Located in external side of plasma membrane. Is expressed in several structures, including alimentary system; early conceptus; embryo mesenchyme; genitourinary system; and nervous system. Used to study DiGeorge syndrome; Loeys-Dietz syndrome; cleft soft palate; lung cancer; and prostate cancer. Human ortholog(s) of this gene implicated in several diseases, including Loeys-Dietz syndrome 2; Lynch syndrome (multiple); Marfan syndrome; gastrointestinal system cancer (multiple); and mismatch repair cancer syndrome. Orthologous to human TGFBR2 (transforming growth factor beta receptor 2).

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Gene Ontology Evidence Code Abbreviations:

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