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 NF-KappaB Family Pathway and Activation of cAMP-Dependent PKA. 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.