GDF2 Chromosome 10
Growth differentiation factor 2
Upload your DNA to see your personal genotypes for variants in GDF2.
What This Gene Does
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]
Gene Info
Gene Group
Transforming growth factor beta superfamily
Locus Type
gene with protein product
Location
10q11.22
Ensembl
ENSG00000263761
Associated Conditions (6)
Telangiectasia
hereditary hemorrhagic
type 5
Cardiovascular phenotype
GDF2-related disorder
Pulmonary arterial hypertension
Key Variants
RS1259967380
Conflicting classifications of pathogenicity
Telangiectasia, hereditary hemorrhagic, type 5
Health Risk
RS137873272
Conflicting classifications of pathogenicity
Telangiectasia, hereditary hemorrhagic, type 5
Health Risk
RS138904328
Conflicting classifications of pathogenicity
Telangiectasia, hereditary hemorrhagic, type 5
Health Risk
RS139154868
Conflicting classifications of pathogenicity
Telangiectasia, hereditary hemorrhagic, type 5
Health Risk
RS139568056
Conflicting classifications of pathogenicity
Telangiectasia, hereditary hemorrhagic, type 5
Health Risk
RS1410431494
Conflicting classifications of pathogenicity
Telangiectasia, hereditary hemorrhagic, type 5
Health Risk
RS145635235
Conflicting classifications of pathogenicity
Telangiectasia, hereditary hemorrhagic, type 5
Health Risk
RS1486994359
Conflicting classifications of pathogenicity
Telangiectasia, hereditary hemorrhagic, type 5
Health Risk
RS151296940
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Telangiectasia, hereditary hemorrhagic
Health Risk
RS1555209009
Conflicting classifications of pathogenicity
Telangiectasia, hereditary hemorrhagic, type 5
Health Risk
RS199804679
Conflicting classifications of pathogenicity
Telangiectasia, hereditary hemorrhagic, type 5
Health Risk
RS201711410
Conflicting classifications of pathogenicity
Telangiectasia, hereditary hemorrhagic, type 5
Health Risk
All Variants (29)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1259967380 | Health Risk | Conflicting classifications of pathogenicity | Telangiectasia, hereditary hemorrhagic, type 5 |
| RS137873272 | Health Risk | Conflicting classifications of pathogenicity | Telangiectasia, hereditary hemorrhagic, type 5 |
| RS138904328 | Health Risk | Conflicting classifications of pathogenicity | Telangiectasia, hereditary hemorrhagic, type 5 |
| RS139154868 | Health Risk | Conflicting classifications of pathogenicity | Telangiectasia, hereditary hemorrhagic, type 5 |
| RS139568056 | Health Risk | Conflicting classifications of pathogenicity | Telangiectasia, hereditary hemorrhagic, type 5 |
| RS1410431494 | Health Risk | Conflicting classifications of pathogenicity | Telangiectasia, hereditary hemorrhagic, type 5 |
| RS145635235 | Health Risk | Conflicting classifications of pathogenicity | Telangiectasia, hereditary hemorrhagic, type 5 |
| RS1486994359 | Health Risk | Conflicting classifications of pathogenicity | Telangiectasia, hereditary hemorrhagic, type 5 |
| RS151296940 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Telangiectasia, hereditary hemorrhagic |
| RS1555209009 | Health Risk | Conflicting classifications of pathogenicity | Telangiectasia, hereditary hemorrhagic, type 5 |
| RS199804679 | Health Risk | Conflicting classifications of pathogenicity | Telangiectasia, hereditary hemorrhagic, type 5 |
| RS201711410 | Health Risk | Conflicting classifications of pathogenicity | Telangiectasia, hereditary hemorrhagic, type 5 |
| RS2132236938 | Health Risk | Conflicting classifications of pathogenicity | Telangiectasia, hereditary hemorrhagic, type 5 |
| RS35129734 | Health Risk | Conflicting classifications of pathogenicity | Telangiectasia, hereditary hemorrhagic, type 5 |
| RS556004917 | Health Risk | Conflicting classifications of pathogenicity | Telangiectasia, hereditary hemorrhagic, type 5 |
| RS559992144 | Health Risk | Conflicting classifications of pathogenicity | Telangiectasia, hereditary hemorrhagic, type 5 |
| RS567200323 | Health Risk | Conflicting classifications of pathogenicity | Telangiectasia, hereditary hemorrhagic, type 5 |
| RS781829279 | Health Risk | Conflicting classifications of pathogenicity | Telangiectasia, hereditary hemorrhagic, type 5 |
| RS781842184 | Health Risk | Conflicting classifications of pathogenicity | Telangiectasia, hereditary hemorrhagic, type 5 |
| RS782238805 | Health Risk | Conflicting classifications of pathogenicity | Telangiectasia, hereditary hemorrhagic, type 5 |
| RS782560993 | Health Risk | Conflicting classifications of pathogenicity | Telangiectasia, hereditary hemorrhagic, type 5 |
| RS782796080 | Health Risk | Conflicting classifications of pathogenicity | Telangiectasia, hereditary hemorrhagic, type 5 |
| RS1443463485 | Health Risk | Likely pathogenic | Telangiectasia, hereditary hemorrhagic, type 5 |
| RS200330818 | Health Risk | Likely pathogenic | Telangiectasia, hereditary hemorrhagic, type 5 |
| RS1358534877 | Health Risk | Pathogenic | Telangiectasia, hereditary hemorrhagic, type 5 |
| RS1555208696 | Health Risk | Pathogenic | Telangiectasia, hereditary hemorrhagic, type 5 |
| RS1565755161 | Health Risk | Pathogenic | Telangiectasia, hereditary hemorrhagic, type 5 |
| RS2549019672 | Health Risk | Pathogenic | Telangiectasia, hereditary hemorrhagic, type 5 |
| RS2549020220 | Health Risk | Pathogenic | Telangiectasia, hereditary hemorrhagic, type 5 |