Aliases for GDF2 Gene
External Ids for GDF2 Gene
Previous GeneCards Identifiers for GDF2 Gene
This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. This protein regulates cartilage and bone development, angiogenesis and differentiation of cholinergic central nervous system neurons. Mutations in this gene are associated with hereditary hemorrhagic telangiectasia. [provided by RefSeq, Jul 2016]
GeneCards Summary for GDF2 Gene
GDF2 (Growth Differentiation Factor 2) is a Protein Coding gene. Diseases associated with GDF2 include Telangiectasia, Hereditary Hemorrhagic, Type 5 and Hereditary Hemorrhagic Telangiectasia. Among its related pathways are Nanog in Mammalian ESC Pluripotency and Apoptotic Pathways in Synovial Fibroblasts. Gene Ontology (GO) annotations related to this gene include cytokine activity and transforming growth factor beta receptor binding. An important paralog of this gene is BMP10.
UniProtKB/Swiss-Prot Summary for GDF2 Gene
Potent circulating inhibitor of angiogenesis. Signals through the type I activin receptor ACVRL1 but not other Alks. Signaling through SMAD1 in endothelial cells requires TGF-beta coreceptor endoglin/ENG.