angiopoietin 2
Annotations refreshed 9 hours ago.
Diagnostic Grade (Green)
Fetal anomalies
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomalFetal hydrops
BIALLELIC, autosomal or pseudoautosomalPrimary lymphoedema
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedDDG2P
BIALLELIC, autosomal or pseudoautosomallymphatic malformation 10
wet macular degeneration
diabetic macular edema
microcephaly 1, primary, autosomal recessive
macular retinal edema
hemorrhoid
hydrops fetalis
Non-immune hydrops fetalis
ovarian carcinoma
open-angle glaucoma
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Angiopoietin-2
Binds to TEK/TIE2, competing for the ANGPT1 binding site, and modulating ANGPT1 signaling (PubMed:15284220, PubMed:19116766, PubMed:19223473, PubMed:9204896). Can induce tyrosine phosphorylation of TEK/TIE2 in the absence of ANGPT1 (PubMed:15284220, PubMed:19116766, PubMed:19223473, PubMed:9204896). In the absence of angiogenic inducers, such as VEGF, ANGPT2-mediated loosening of cell-matrix contacts may induce endothelial cell apoptosis with consequent vascular regression. In concert with VEGF, it may facilitate endothelial cell migration and proliferation, thus serving as a permissive angiogenic signal (PubMed:15284220, PubMed:19116766, PubMed:19223473, PubMed:9204896). Involved in the regulation of lymphangiogenesis (PubMed:32908006)
Curated MONDO disease pages that list ANGPT2 among their top associated genes.
ANGPT2 · O15123
Mean pLDDT
83.9/ 100
Confident
496 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0
