Gene Gene information from NCBI Gene database.
Entrez ID 2771
Gene name G protein subunit alpha i2
Gene symbol GNAI2
Synonyms (NCBI Gene)
GIPGNAI2BHG1CH_LUCA15.1H_LUCA16.1
Chromosome 3
Chromosome location 3p21.31
Summary 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
SNPs SNP information provided by dbSNP.
3
SNP ID Visualize variation Clinical significance Consequence
rs137853226 C>G,T Pathogenic Missense variant, coding sequence variant
rs137853227 G>A Pathogenic Missense variant, coding sequence variant
rs137853228 T>A Pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
696
miRTarBase ID miRNA Experiments Reference
MIRT003274 hsa-miR-30d-5p Western blot 20054866
MIRT003274 hsa-miR-30d-5p Western blot 20054866
MIRT003274 hsa-miR-30d-5p Western blot 20054866
MIRT003274 hsa-miR-30d-5p Western blot 20054866
MIRT005181 hsa-miR-30a-5p pSILAC 18668040
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
67
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0001664 Function G protein-coupled receptor binding IBA
GO:0001973 Process G protein-coupled adenosine receptor signaling pathway IBA
GO:0001973 Process G protein-coupled adenosine receptor signaling pathway IEA
GO:0003924 Function GTPase activity IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
139360 4385 ENSG00000114353
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P04899
Protein name Guanine nucleotide-binding protein G(i) subunit alpha-2 (Adenylate cyclase-inhibiting G alpha protein)
Protein function Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various transmembrane signaling systems. The G(i) proteins are involved in hormonal regulation of adenylate cyclase: they inhibit the cyclase in respon
PDB 6D9H , 7F8V , 7LD3 , 7LD4 , 7WV9 , 7WVV , 7WVW , 7WVX , 7WVY , 7XXI , 7YJ4 , 7YK6 , 7YK7 , 8K6M , 8K6N , 8K6O , 8KGG , 8THK , 8THL , 8Y45 , 8ZSJ , 8ZSP , 8ZSS , 8ZSV
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00503 G-alpha 13 344 G-protein alpha subunit Domain
Sequence
Sequence length 355
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
13
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Adrenocortical tumor, somatic Pathogenic rs137853227 RCV000017253
Neoplasm Likely pathogenic rs2470733622 RCV004673677
Ovarian granulosa cell tumor Pathogenic rs137853227 RCV000017254
Pituitary dependent hypercortisolism Pathogenic rs137853226 RCV000017256
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Familial isolated pituitary adenoma Uncertain significance rs143863348 RCV001847150
GNAI2-related disorder Likely benign rs146259462, rs139197363 RCV003923923
RCV003969288
Long QT syndrome Conflicting classifications of pathogenicity rs112497464 RCV003482158
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Associate 22491060
Aortic Dissection Associate 36959563
Arrhythmogenic Right Ventricular Dysplasia Associate 9637720
Burkitt Lymphoma Associate 36201743
Carcinoma Non Small Cell Lung Associate 22491060
Carcinoma Squamous Cell Associate 22491060
Cholangiocarcinoma Associate 36868481
Coronary Aneurysm Associate 40141310
Coronary Artery Disease Associate 40738708
COVID 19 Associate 34185889