GNA12

The GNA12 and PMS2 genes were examined in two affected (A1, A2) and two unaffected (U1, U2) subjects from a large 7p22‐linked FH‐II family (family 1). No mutations were found.

Full Name

guanine nucleotide binding protein, alpha 12

Function

Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various transmembrane signaling systems (PubMed:22609986, PubMed:15525651, PubMed:15240885, PubMed:17565996, PubMed:12515866, PubMed:16787920, PubMed:16705036, PubMed:23762476, PubMed:27084452).

Activates effector molecule RhoA by binding and activating RhoGEFs (ARHGEF12/LARG) (PubMed:15240885, PubMed:12515866, PubMed:16202387).

GNA12-dependent Rho signaling subsequently regulates transcription factor AP-1 (activating protein-1) (By similarity).

GNA12-dependent Rho signaling also regulates protein phosphatese 2A activation causing dephosphorylation of its target proteins (PubMed:15525651, PubMed:17565996).

Promotes tumor cell invasion and metastasis by activating RhoA/ROCK signaling pathway and up-regulating proinflammatory cytokine production (PubMed:23762476, PubMed:16787920, PubMed:16705036, PubMed:27084452).

Inhibits CDH1-mediated cell adhesion in process independent from Rho activation (PubMed:11976333, PubMed:16787920).

Together with NAPA promotes CDH5 localization to plasma membrane (PubMed:15980433).

May play a role in the control of cell migration through the TOR signaling cascade (PubMed:22609986).

Biological Process

Adenylate cyclase-modulating G protein-coupled receptor signaling pathway Source: GO_Central
Blood coagulation Source: ProtInc
G protein-coupled receptor signaling pathway Source: ProtInc
Negative regulation of vascular associated smooth muscle cell migration Source: Ensembl
Negative regulation of vascular associated smooth muscle cell proliferation Source: Ensembl
Regulation of fibroblast migration Source: UniProtKB
Regulation of proteasomal ubiquitin-dependent protein catabolic process Source: UniProtKB
Regulation of TOR signaling Source: UniProtKB
Response to drug Source: Ensembl
Rho protein signal transduction Source: GO_Central

Cellular Location

Cell membrane; Lateral cell membrane; Cytoplasm. CDH1 enhances cell membrane localization.