GDF2

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. [provided by RefSeq]

Full Name

growth differentiation factor 2

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.

Biological Process

Activin receptor signaling pathway Source: BHF-UCL
Angiogenesis Source: UniProtKB
Blood vessel morphogenesis Source: DFLAT
BMP signaling pathway Source: BHF-UCL
Branching involved in blood vessel morphogenesis Source: DFLAT
Cartilage development Source: DFLAT
Cellular iron ion homeostasis Source: DFLAT
Cellular response to BMP stimulus Source: BHF-UCL
Negative regulation of angiogenesis Source: DFLAT
Negative regulation of blood vessel endothelial cell migration Source: DFLAT
Negative regulation of cell growth Source: BHF-UCL
Negative regulation of DNA biosynthetic process Source: BHF-UCL
Negative regulation of DNA replication Source: DFLAT
Negative regulation of endothelial cell migration Source: BHF-UCL
Negative regulation of endothelial cell proliferation Source: DFLAT
Ossification Source: DFLAT
Osteoblast differentiation Source: Ensembl
Pathway-restricted SMAD protein phosphorylation Source: BHF-UCL
Positive regulation of angiogenesis Source: DFLAT
Positive regulation of BMP signaling pathway Source: Ensembl
Positive regulation of cartilage development Source: Ensembl
Positive regulation of endothelial cell differentiation Source: Ensembl
Positive regulation of endothelial cell proliferation Source: DFLAT
Positive regulation of interleukin-8 production Source: BHF-UCL
Positive regulation of pathway-restricted SMAD protein phosphorylation Source: BHF-UCL
Positive regulation of transcription, DNA-templated Source: BHF-UCL
Positive regulation of transcription by RNA polymerase II Source: BHF-UCL
SMAD protein signal transduction Source: GO_Central
Vasculogenesis Source: Ensembl

Cellular Location

Secreted

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.

PTM

A reversible disulfide bond can be formed between the two subunits in the homodimer; this has no effect on GDF2 activity.