GNAQ p.R183Q drives capillary malformation (Homo sapiens)

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Description

"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/.

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Bibliography

  1. Huang L, Bichsel C, Norris AL, Thorpe J, Pevsner J, Alexandrescu S, Pinto A, Zurakowski D, Kleiman RJ, Sahin M, Greene AK, Bischoff J; ''Endothelial GNAQ p.R183Q Increases ANGPT2 (Angiopoietin-2) and Drives Formation of Enlarged Blood Vessels.''; Arterioscler Thromb Vasc Biol, 2022 PubMed Europe PMC Scholia

History

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CompareRevisionActionTimeUserComment
136038view03:38, 10 December 2024EweitzOntology Term : 'disease pathway' added !
136037view03:26, 10 December 2024EweitzOntology Term : 'Sturge-Weber syndrome' added !
136036view03:09, 10 December 2024EweitzOntology Term : 'vascular disease' added !
136035view03:02, 10 December 2024EweitzOntology Term : 'endothelial cell' added !
136034view02:58, 10 December 2024EweitzLabel cell type: endothelial cell
136033view02:39, 10 December 2024EweitzAdd literature reference
136032view02:38, 10 December 2024EweitzIdentify phenotype nodes
136031view02:35, 10 December 2024EweitzColor phenotype nodes, economize layout
136030view02:07, 10 December 2024EweitzAdd identifiers for metabolite nodes
136028view23:51, 9 December 2024EweitzAdd Ensembl IDs as gene identifiers
136027view13:20, 9 December 2024EweitzAdd more nodes, interactions
136025view04:56, 9 December 2024EweitzAdd more nodes, arrange
136024view19:37, 8 December 2024EweitzNew pathway

External references

DataNodes

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NameTypeDatabase referenceComment
ANGPT2GeneProductENSG00000091879 (Ensembl)
AngiogenesisQ539568 (Wikidata)
DAGMetaboliteCHEBI:18035 (ChEBI)
G-betaGeneProduct
G-gammaGeneProduct
GNAQGeneProductENSG00000156052 (Ensembl)
IP3MetaboliteCHEBI:16595 (ChEBI)
InflammationQ101991 (Wikidata)
NFATC1GeneProductENSG00000131196 (Ensembl)
PIP2MetaboliteCHEBI:18348 (ChEBI)
PKN1GeneProductENSG00000123143 (Ensembl)
PKN2GeneProductENSG00000065243 (Ensembl)
PKN3GeneProductENSG00000160447 (Ensembl)
PLCB3GeneProductENSG00000149782 (Ensembl)
PPP3CAGeneProductENSG00000138814 (Ensembl)
PPP3CBGeneProductENSG00000107758 (Ensembl)
PPP3CCGeneProductENSG00000120910 (Ensembl)
PPP3R1GeneProductENSG00000221823 (Ensembl)
PPP3R2GeneProductENSG00000188386 (Ensembl)
PRKCAGeneProductENSG00000154229 (Ensembl)
PRKCBGeneProductENSG00000166501 (Ensembl)
PRKCDGeneProductENSG00000163932 (Ensembl)
PRKCEGeneProductENSG00000171132 (Ensembl)
PRKCGGeneProductENSG00000126583 (Ensembl)
PRKCHGeneProductENSG00000027075 (Ensembl)
PRKCIGeneProductENSG00000163558 (Ensembl)
PRKCQGeneProductENSG00000065675 (Ensembl)
PRKCZGeneProductENSG00000067606 (Ensembl)
PRKD1GeneProductENSG00000184304 (Ensembl)
PRKD2GeneProductENSG00000105287 (Ensembl)
PRKD3GeneProductENSG00000115825 (Ensembl)
RCAN1GeneProductENSG00000159200 (Ensembl) "DSCR1.4" originally

Annotated Interactions

No annotated interactions

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