GDF2
Function
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.
Involvement in disease
Telangiectasia, hereditary hemorrhagic, 5
HHT5
A multisystemic vascular dysplasia leading to dilation of permanent blood vessels and arteriovenous malformations of skin, mucosa, and viscera. The disease is characterized by recurrent epistaxis and gastro-intestinal hemorrhage. Visceral involvement includes arteriovenous malformations of the lung, liver, and brain.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
A reversible disulfide bond can be formed between the two subunits in the homodimer; this has no effect on GDF2 activity.
Sequence Similarities
Belongs to the TGF-beta family.
Tissue Specificity
Detected in blood plasma (at protein level).
Cellular localization
- Secreted
Alternative names
BMP9, GDF2, Growth/differentiation factor 2, GDF-2, Bone morphogenetic protein 9, BMP-9