Aliases for GDF2 Gene
External Ids for GDF2 Gene
The protein encoded by this gene is a member of the bone morphogenetic protein (BMP) family and the TGF-beta superfamily. This group of proteins is characterized by a polybasic proteolytic processing site which is cleaved to produce a mature protein containing seven conserved cysteine residues. The members of this family are regulators of cell growth and differentiation in both embryonic and adult tissues. Studies in rodents suggest that this protein plays a role in the adult liver and in differentiation of cholinergic central nervous system neurons. Mutations in this gene are associated with hereditary hemorrhagic telangiectasia. [provided by RefSeq, Jan 2014]
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 NF-KappaB Family Pathway. GO annotations related to this gene include cytokine activity and growth factor activity.
UniProtKB/Swiss-Prot for GDF2 Gene
Potent circulating inhibitor of angiogenesis. Could be involved in bone formation. Signals through the type I activin receptor ACVRL1 but not other Alks. Signaling through SMAD1 in endothelial cells requires TGF-beta coreceptor endoglin/ENG.