Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
2771
Gene name Gene Name - the full gene name approved by the HGNC.
G protein subunit alpha i2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
GNAI2
Synonyms (NCBI Gene) Gene synonyms aliases
GIP, GNAI2B, HG1C, H_LUCA15.1, H_LUCA16.1
Chromosome Chromosome number
3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
3p21.31
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
139360 4385 ENSG00000114353
Protein
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Adrenocortical tumor adrenocortical tumor, somatic rs137853227 N/A
Ventricular tachycardia Ventricular tachycardia, somatic rs137853228 N/A
pituitary dependent hypercortisolism Pituitary dependent hypercortisolism rs137853226 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Insomnia Insomnia N/A N/A GWAS
Long QT Syndrome long qt syndrome N/A N/A ClinVar
Neuroticism Neuroticism N/A N/A GWAS
Pituitary adenoma familial isolated pituitary adenoma N/A N/A ClinVar
Associations from Text Mining Disease 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