GNAI3 Chromosome 1
G protein subunit alpha i3
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What This Gene Does
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. [provided by RefSeq, Jun 2012]
Gene Info
Gene Group
"G protein subunits alpha, group i|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
1p13.3
Ensembl
ENSG00000065135
Associated Conditions (2)
Inborn genetic diseases
Auriculocondylar syndrome 1
Key Variants
RS142294586
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1648666311
Likely pathogenic
Health Risk
RS2524277188
Likely pathogenic
Health Risk
RS2524277212
Likely pathogenic
Auriculocondylar syndrome 1, Auriculocondylar syndrome 1
Health Risk
RS397514768
Pathogenic
Auriculocondylar syndrome 1, Auriculocondylar syndrome 1
Health Risk
RS1553223897
Pathogenic/Likely pathogenic
Auriculocondylar syndrome 1, Auriculocondylar syndrome 1
Health Risk
RS387907178
Pathogenic/Likely pathogenic
Auriculocondylar syndrome 1, Auriculocondylar syndrome 1
Health Risk
All Variants (7)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS142294586 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1648666311 | Health Risk | Likely pathogenic | — |
| RS2524277188 | Health Risk | Likely pathogenic | — |
| RS2524277212 | Health Risk | Likely pathogenic | Auriculocondylar syndrome 1, Auriculocondylar syndrome 1 |
| RS397514768 | Health Risk | Pathogenic | Auriculocondylar syndrome 1, Auriculocondylar syndrome 1 |
| RS1553223897 | Health Risk | Pathogenic/Likely pathogenic | Auriculocondylar syndrome 1, Auriculocondylar syndrome 1 |
| RS387907178 | Health Risk | Pathogenic/Likely pathogenic | Auriculocondylar syndrome 1, Auriculocondylar syndrome 1 |