GNAI2 Chromosome 3
G protein subunit alpha i2
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What This Gene Does
The protein encoded by this gene is an alpha subunit of guanine nucleotide binding proteins (G proteins). The encoded protein contains the guanine nucleotide binding site and is involved in the hormonal regulation of adenylate cyclase. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2013]
Gene Info
Gene Group
"G protein subunits alpha, group i|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
3p21.31
Ensembl
ENSG00000114353
Associated Conditions (9)
Long QT syndrome
6 conditions
Neoplasm
Thecoma
somatic
Adrenocortical tumor
Ovarian granulosa cell tumor
Pituitary dependent hypercortisolism
Ventricular tachycardia
Key Variants
RS112497464
Conflicting classifications of pathogenicity
Long QT syndrome, Long QT syndrome
Health Risk
RS2470733622
Likely pathogenic
6 conditions, Neoplasm, 6 conditions
Health Risk
RS137853226
Pathogenic
Thecoma, somatic, Adrenocortical tumor
Health Risk
RS137853227
Pathogenic
Ovarian granulosa cell tumor, Adrenocortical tumor, somatic
Health Risk
RS137853228
Pathogenic
Ventricular tachycardia, somatic, Ventricular tachycardia
Health Risk
All Variants (5)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS112497464 | Health Risk | Conflicting classifications of pathogenicity | Long QT syndrome, Long QT syndrome |
| RS2470733622 | Health Risk | Likely pathogenic | 6 conditions, Neoplasm, 6 conditions |
| RS137853226 | Health Risk | Pathogenic | Thecoma, somatic, Adrenocortical tumor |
| RS137853227 | Health Risk | Pathogenic | Ovarian granulosa cell tumor, Adrenocortical tumor, somatic |
| RS137853228 | Health Risk | Pathogenic | Ventricular tachycardia, somatic, Ventricular tachycardia |