GNA14 gene

The GNA14 gene (GNA14 stands for G protein subunit alpha 14) is a protein-coding gene located on chromosome 9q21.2. The GNA14 gene encodes a member of the guanine nucleotide-binding or G protein family. G proteins are heterotrimers consisting of alpha, beta and gamma subunits. The encoded protein is a member of the alpha family of G-proteins, more specifically the alpha-Q subfamily of G-proteins.

Heterotrimeric G proteins are membrane-bound GTPases linked to 7-TM receptors. Each G protein contains an alpha, beta and gamma subunit and is bound to GDP in the "off" state. Ligand binding causes a conformational change in the receptor, resulting in the G protein being detached and turned on. The encoded protein may play a role in pertussis toxin-resistant activation of phospholipase C-beta and its downstream effectors.

Diseases associated with GNA14 include caposiform hemangioendothelioma and tufted hemangioma (tufted angioma). Related pathways include thromboxane signaling through TP receptor and integration of energy metabolism.

1. D'Angelo G et al. (1999) 16K human prolactin inhibits vascular endothelial growth factor-induced activation of Ras in capillary endothelial cells. Molecular Endocrinology 13: 692-704.
2. Lim YH et al.(2019) Tufted angioma with associated Kasabach-Merritt phenomenon caused by somatic mutation in GNA14. Pediatr Dermatol 36:963-964
3. Wen Y et al. (1999) Lipocortin V may function as a signaling protein for vascular endothelial growth factor receptor-2/Flk-1. Biochemical and Biophysical Research Communications. 258: 713-721.
4. Zanetti A et al.(2002) Vascular endothelial growth factor induces SHC association with vascular endothelial cadherin: a potential feedback mechanism to control vascular endothelial growth factor receptor-2 signaling. Arteriosclerosis, Thrombosis, and Vascular Biology 22: 617-622.