Gene: GNAI3

Alternate names for this Gene: 87U6|ARCND1

Gene Summary: Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various transmembrane signaling pathways. G proteins are composed of 3 units: alpha, beta and gamma. This gene encodes an alpha subunit and belongs to the G-alpha family. Mutation in this gene, resulting in a gly40-to-arg substitution, is associated with auriculocondylar syndrome, and shown to affect downstream targets in the G protein-coupled endothelin receptor pathway.

Gene is located in Chromosome: 1

Location in Chromosome : 1p13.3

Description of this Gene: G protein subunit alpha i3

Type of Gene: protein-coding

rs387907178 in GNAI3 gene and Auriculocondylar syndrome 1 PMID 22560091 2012 A human homeotic transformation resulting from mutations in PLCB4 and GNAI3 causes auriculocondylar syndrome.

rs6537837 in GNAI3 gene and Major Depressive Disorder PMID 20125088 2011 Genome-wide association study of recurrent early-onset major depressive disorder.