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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
22
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Adrenocortical tumor, somatic Pathogenic rs137853227 RCV000017253
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neoplasm Likely pathogenic rs2470733622 RCV004673677
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ovarian granulosa cell tumor Pathogenic rs137853227 RCV000017254
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pituitary dependent hypercortisolism Pathogenic rs137853226 RCV000017256
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ATRIOVENTRICULAR BLOCK CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BRADYCARDIA CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST NEOPLASMS CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CANNABIS DEPENDENCE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acromegaly Acromegaly BEFREE 11158006
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma, Clear Cell Adenocarcinoma BEFREE 24423449
★☆☆☆☆
Found in Text Mining only
ADRENOCORTICAL TUMOR, SOMATIC Adrenocortical tumor CLINVAR_DG
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Adult Type Ovarian Granulosa Cell Tumor Ovarian Tumor CGI_DG
★☆☆☆☆
Found in Text Mining only
Anaplastic carcinoma Anaplastic Carcinoma CTD_human_DG 16316942
★☆☆☆☆
Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA Syndromic microphthalmia BEFREE 27578530
★☆☆☆☆
Found in Text Mining only
Aortic Dissection Aortic dissection Pubtator 36959563 Associate
★☆☆☆☆
Found in Text Mining only
Arrhythmogenic Right Ventricular Dysplasia Arrhythmogenic right ventricular cardiomyopathy Pubtator 9637720 Associate
★☆☆☆☆
Found in Text Mining only
Atrioventricular Block Atrioventricular block CTD_human_DG 17277016
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Breast Carcinoma Breast Carcinoma CTD_human_DG 18925433
★☆☆☆☆
Found in Text Mining only