Reviewed January 2013
What is the official name of the GNAI3 gene?
The official name of this gene is “guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3.”
GNAI3 is the gene's official symbol. The GNAI3 gene is also known by other names, listed below.
What is the normal function of the GNAI3 gene?
The GNAI3 gene provides instructions for making one component, the 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 outside the cell to inside the cell. Specifically, G proteins made with the GNAI3 inhibitory alpha subunit reduce (inhibit) the activity of an enzyme called adenylyl cyclase, which is an important chemical messenger within cells. G protein signaling ultimately influences many cell activities, instructing the cell to grow, divide, or take on specialized functions.
Studies suggest that G protein signaling involving the GNAI3 inhibitory alpha subunit contributes to the development of the first and second pharyngeal arches. These embryonic structures ultimately develop into the jawbones, facial muscles, middle ear bones, ear canals, outer ears, and related tissues.
How are changes in the GNAI3 gene related to health conditions?
- auriculo-condylar syndrome - caused by mutations in the GNAI3 gene
At least two mutations in the GNAI3 gene have been found to cause auriculo-condylar syndrome, a disorder that primarily affects the development of the ears and lower jaw (mandible). The identified mutations change single protein building blocks (amino acids) in the inhibitory alpha subunit. These mutations likely alter the structure of the inhibitory alpha subunit and impair G protein signaling. Abnormal signaling alters the formation of the lower jaw: instead of developing normally, the lower jaw becomes shaped more like the smaller upper jaw (maxilla). The abnormal shape leads to an unusually small chin (micrognathia) and problems with jaw function. Researchers are working to determine how mutations in this gene lead to the other developmental abnormalities associated with auriculo-condylar syndrome.
Where is the GNAI3 gene located?
Cytogenetic Location: 1p13
Molecular Location on chromosome 1: base pairs 109,548,563 to 109,595,842
The GNAI3 gene is located on the short (p) arm of chromosome 1 at position 13.
More precisely, the GNAI3 gene is located from base pair 109,548,563 to base pair 109,595,842 on chromosome 1.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
Where can I find additional information about GNAI3?
You and your healthcare professional may find the following resources about GNAI3 helpful.
Educational resources - Information pages
- Basic Neurochemistry (sixth edition, 1999): Adenylyl Cyclases (http://www.ncbi.nlm.nih.gov/books/NBK27958/)
- Molecular Biology of the Cell (fourth edition, 2002): Signaling through G-Protein-Linked Cell-Surface Receptors (http://www.ncbi.nlm.nih.gov/books/NBK26912/)
Genetic Testing Registry - Repository of genetic test information
- GTR: Genetic tests for GNAI3 (http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2773%5Bgeneid%5D)
You may also be interested in these resources, which are designed for genetics professionals and researchers.
- PubMed - Recent literature (http://www.ncbi.nlm.nih.gov/pubmed?term=%28GNAI3%5BTIAB%5D%29%20OR%20%28%28guanine%20nucleotide%20binding%20protein%5BTIAB%5D%29%20AND%20%28alpha%203%5BTIAB%5D%29%29%20AND%20%28%28Genes%5BMH%5D%29%20OR%20%28Genetic%20Phenomena%5BMH%5D%29%29%20NOT%20%28achromatopsia%5BTIAB%5D%29%20AND%20english%5Bla%5D%20AND%20human%5Bmh%5D)
- OMIM - Genetic disorder catalog (http://omim.org/entry/139370)
Research Resources - Tools for researchers
- Atlas of Genetics and Cytogenetics in Oncology and Haematology (http://atlasgeneticsoncology.org/Genes/GC_GNAI3.html)
- HGNC Gene Symbol Report (http://www.genenames.org/cgi-bin/gene_symbol_report?q=data/hgnc_data.php&hgnc_id=4387)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/2773)
What other names do people use for the GNAI3 gene or gene products?
- g(i) alpha-3
- guanine nucleotide-binding protein G(k) subunit alpha
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
What glossary definitions help with understanding GNAI3?
lower jaw ;
neural crest ;
signal transduction ;
You may find definitions for these and many other terms in the Genetics Home Reference
- Baron B, Fernandez MA, Toledo F, Le Roscouët 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. (http://www.ncbi.nlm.nih.gov/pubmed/7698751?dopt=Abstract)
- 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. (http://www.ncbi.nlm.nih.gov/pubmed/2902634?dopt=Abstract)
- 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, García-Miñaúr 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. (http://www.ncbi.nlm.nih.gov/pubmed/23315542?dopt=Abstract)
- OMIM: GUANINE NUCLEOTIDE-BINDING PROTEIN, ALPHA-INHIBITING ACTIVITY POLYPEPTIDE 3 (http://omim.org/entry/139370)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/2773)
- 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. Erratum in: Am J Hum Genet. 2012 Aug 10;91(2):397. Am J Hum Genet. 2012 Jun 8;90(6):1116. (http://www.ncbi.nlm.nih.gov/pubmed/22560091?dopt=Abstract)
The resources on this site should not be used as a substitute for
professional medical care or advice. Users seeking information about
a personal genetic disease, syndrome, or condition should consult with a qualified
See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.