GNAQ p.R183Q drives capillary malformation (WP5501)

Homo sapiens

Open in new tab Open in Newt (SBGN)
Download PNG Download SVG Download JSON Download GPML Learn more about Downloads
"Gαq-R183Q, when expressed in ECs [endothelial cells], establishes constitutively active PLCB3 signaling that leads to increased ANGPT2 and a pro-angiogenic, pro-inflammatory phenotype. EC-R183Q are sufficient to form enlarged [capillary malformation, CM]-like vessels in mice, and suppression of ANGPT2 prevents the enlargement. Our study provides the first evidence that endothelial Gαq-R183Q is causative for CM and identifies ANGPT2 as a contributor to CM vascular phenotype." Derived from https://pmc.ncbi.nlm.nih.gov/articles/PMC8702487/.

Authors

Eric Weitz

Activity

last edited

Discuss this pathway

Check for ongoing discussions or start your own.

Cited In

Are you planning to include this pathway in your next publication? See How to Cite and add a link here to your paper once it's online.

Organisms

Homo sapiens

Communities

Annotations

Disease Ontology

vascular disease Sturge-Weber syndrome

Cell Type Ontology

endothelial cell

Pathway Ontology

disease pathway

Participants
Query Drugst.One

Label Type Compact URI Comment
PIP2 Metabolite chebi:18348
DAG Metabolite chebi:18035
IP3 Metabolite chebi:16595
PLCB3 GeneProduct ensembl:ENSG00000149782
NFATC1 GeneProduct ensembl:ENSG00000131196
PPP3CA GeneProduct ensembl:ENSG00000138814
PPP3CB GeneProduct ensembl:ENSG00000107758
PPP3CC GeneProduct ensembl:ENSG00000120910
PPP3R1 GeneProduct ensembl:ENSG00000221823
PPP3R2 GeneProduct ensembl:ENSG00000188386
PRKCA GeneProduct ensembl:ENSG00000154229
PRKCB GeneProduct ensembl:ENSG00000166501
PRKCG GeneProduct ensembl:ENSG00000126583
PRKCD GeneProduct ensembl:ENSG00000163932
PRKCE GeneProduct ensembl:ENSG00000171132
PRKCH GeneProduct ensembl:ENSG00000027075
PRKCQ GeneProduct ensembl:ENSG00000065675
PRKCI GeneProduct ensembl:ENSG00000163558
PRKCZ GeneProduct ensembl:ENSG00000067606
PRKD1 GeneProduct ensembl:ENSG00000184304
PRKD2 GeneProduct ensembl:ENSG00000105287
PRKD3 GeneProduct ensembl:ENSG00000115825
PKN1 GeneProduct ensembl:ENSG00000123143
PKN2 GeneProduct ensembl:ENSG00000065243
PKN3 GeneProduct ensembl:ENSG00000160447
ANGPT2 GeneProduct ensembl:ENSG00000091879
RCAN1 GeneProduct ensembl:ENSG00000159200 'DSCR1.4' originally
GNAQ GeneProduct ensembl:ENSG00000156052

References

  1. Endothelial GNAQ p.R183Q Increases ANGPT2 (Angiopoietin-2) and Drives Formation of Enlarged Blood Vessels. Huang L, Bichsel C, Norris AL, Thorpe J, Pevsner J, Alexandrescu S, et al. Arterioscler Thromb Vasc Biol. 2022 Jan;42(1):e27–43. PubMed Europe PMC Scholia