GDF2

Chr 10q11.22

growth differentiation factor 2

Aliases:: BMP-9, BMP9
MANE:: ENST00000581492.3

OMIM: 605120 ↗NCBI: 2658 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

GDF2 · Q9UK05

v62025-08-01

Predicted Aligned Error matrix for GDF2 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

74.6/ 100

Confident

429 residues

Confidence breakdown

Very high(≥ 90)38%
Confident(70–90)28%
Low(50–70)12%
Very low(< 50)21%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Hereditary haemorrhagic telangiectasia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pulmonary arterial hypertension
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Cerebral vascular malformations
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

hereditary hemorrhagic telangiectasia
0.74
heritable pulmonary arterial hypertension
0.56
hypertensive disorder
0.48
pulmonary arterial hypertension
0.45
Increased blood pressure
0.37
cardiovascular disorder
0.31
Abnormality of the cardiovascular system
0.19
hepatocellular carcinoma
0.14
Varicose veins
0.13
neoplasm
0.11

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Growth/differentiation factor 2

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