The GNAI3 gene provides instructions for making one part, the GNAI3 inhibitory alpha subunit, of a protein complex called a guanine nucleotide-binding protein (G protein). G proteins are composed of three protein subunits: alpha, beta, and gamma. Each of these subunits is produced from a different gene.

Through a process called signal transduction, G proteins trigger a complex network of signaling pathways within cells. These pathways help transmit information from the outside of the cell to the inside of the cell. Specifically, G proteins that are made with the GNAI3 inhibitory alpha subunit reduce (inhibit) the activity of an enzyme called adenylyl cyclase. This enzyme is important for transmitting information within cells. By influencing many cell activities, G protein signaling helps cells grow and divide or take on specialized functions.

Studies suggest that G protein signaling that involves the GNAI3 inhibitory alpha subunit contributes to the development of the first and second pharyngeal arches. During early development, these structures develop into the bones and tissues of the head and face, including the jawbones, facial muscles, and inner and outer ears.

Tests Listed in the Genetic Testing Registry

• Tests of GNAI3

Scientific Articles on PubMed

• PubMed

Catalog of Genes and Diseases from OMIM

• GUANINE NUCLEOTIDE-BINDING PROTEIN, ALPHA-INHIBITING ACTIVITY POLYPEPTIDE 3; GNAI3

Gene and Variant Databases

• NCBI Gene
• ClinVar

• Baron B, Fernandez MA, Toledo F, Le Roscouet D, Mayau V, Martin N, Buttin G, Debatisse M. The highly conserved Chinese hamster GNAI3 gene maps less than 60 kb from the AMPD2 gene and lacks the intronic U6 snRNA present in its human counterpart. Genomics. 1994 Nov 15;24(2):288-94. doi: 10.1006/geno.1994.1618. Citation on PubMed
• Blatt C, Eversole-Cire P, Cohn VH, Zollman S, Fournier RE, Mohandas LT, Nesbitt M, Lugo T, Jones DT, Reed RR, et al. Chromosomal localization of genes encoding guanine nucleotide-binding protein subunits in mouse and human. Proc Natl Acad Sci U S A. 1988 Oct;85(20):7642-6. doi: 10.1073/pnas.85.20.7642. Citation on PubMed or Free article on PubMed Central
• Gordon CT, Vuillot A, Marlin S, Gerkes E, Henderson A, AlKindy A, Holder-Espinasse M, Park SS, Omarjee A, Sanchis-Borja M, Bdira EB, Oufadem M, Sikkema-Raddatz B, Stewart A, Palmer R, McGowan R, Petit F, Delobel B, Speicher MR, Aurora P, Kilner D, Pellerin P, Simon M, Bonnefont JP, Tobias ES, Garcia-Minaur S, Bitner-Glindzicz M, Lindholm P, Meijer BA, Abadie V, Denoyelle F, Vazquez MP, Rotky-Fast C, Couloigner V, Pierrot S, Manach Y, Breton S, Hendriks YM, Munnich A, Jakobsen L, Kroisel P, Lin A, Kaban LB, Basel-Vanagaite L, Wilson L, Cunningham ML, Lyonnet S, Amiel J. Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndrome. J Med Genet. 2013 Mar;50(3):174-86. doi: 10.1136/jmedgenet-2012-101331. Epub 2013 Jan 12. Citation on PubMed
• Li Q, Jiang Z, Zhang L, Cai S, Cai Z. Auriculocondylar syndrome: Pathogenesis, clinical manifestations and surgical therapies. J Formos Med Assoc. 2023 Sep;122(9):822-842. doi: 10.1016/j.jfma.2023.04.024. Epub 2023 May 17. Citation on PubMed
• Rieder MJ, Green GE, Park SS, Stamper BD, Gordon CT, Johnson JM, Cunniff CM, Smith JD, Emery SB, Lyonnet S, Amiel J, Holder M, Heggie AA, Bamshad MJ, Nickerson DA, Cox TC, Hing AV, Horst JA, Cunningham ML. A human homeotic transformation resulting from mutations in PLCB4 and GNAI3 causes auriculocondylar syndrome. Am J Hum Genet. 2012 May 4;90(5):907-14. doi: 10.1016/j.ajhg.2012.04.002. Citation on PubMed or Free article on PubMed Central
• Romanelli Tavares VL, Zechi-Ceide RM, Bertola DR, Gordon CT, Ferreira SG, Hsia GS, Yamamoto GL, Ezquina SA, Kokitsu-Nakata NM, Vendramini-Pittoli S, Freitas RS, Souza J, Raposo-Amaral CA, Zatz M, Amiel J, Guion-Almeida ML, Passos-Bueno MR. Targeted molecular investigation in patients within the clinical spectrum of Auriculocondylar syndrome. Am J Med Genet A. 2017 Apr;173(4):938-945. doi: 10.1002/ajmg.a.38101. Citation on PubMed