GDF2 gene

growth differentiation factor 2

The information on this page was automatically extracted from online scientific databases.

From NCBI 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]

From UniProt:

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.

Covered on Genetics Home Reference:

From NCBI Gene:

  • Telangiectasia, hereditary hemorrhagic, type 5

From UniProt:

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. [MIM:615506]

Cytogenetic Location: 10q11.22, which is the long (q) arm of chromosome 10 at position 11.22

Molecular Location: base pairs 47,322,490 to 47,326,270 on chromosome 10 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 10q11.22, which is the long (q) arm of chromosome 10 at position 11.22
  • BMP-9
  • BMP9
  • HHT5