Gene: GDF2

Alternate names for this Gene: BMP-9|BMP9|HHT5

Gene Summary: 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.

Gene is located in Chromosome: 10

Location in Chromosome : 10q11.22

Description of this Gene: growth differentiation factor 2

Type of Gene: protein-coding

rs34130368 in GDF2 gene and Red Blood Cell Count measurement PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs34130368 in GDF2 gene and Systolic Pressure PMID 30224653 2018 Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits.

rs35129734 in GDF2 gene and TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 5 PMID 23972370 2013 BMP9 mutations cause a vascular-anomaly syndrome with phenotypic overlap with hereditary hemorrhagic telangiectasia.