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25 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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GNAI2
G protein subunit alpha i2
Chromosome 3 Β· 3p21.31
NCBI Gene: 2771Ensembl: ENSG00000114353.18HGNC: HGNC:4385UniProt: B3KP24
268PubMed Papers
20Diseases
0Drugs
5Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedHub Gene
RESEARCH IMPACT
Trending
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
cell divisioncytoplasmangiogenesiscentrosomeovarian granulosa cell tumorovarian granulosa tumouradrenal cortex carcinomasyndromic intellectual disability
✦AI Summary

GNAI2 encodes G protein subunit alpha i2, a component of heterotrimeric G protein signal transduction that regulates adenylyl cyclase and intracellular cAMP levels 1. GNAI2 couples G protein-coupled receptors to downstream signaling pathways, including TCR signaling where activating mutations enhance ERK/MAPK and PI3K-AKT signaling through RASA2 sequestration 2. Post-translational modification via S-nitrosylation at Cysteine 66 enables GNAI2-CXCR5 coupling to suppress Hippo pathway kinase LATS1, promoting YAP-dependent endothelial inflammation in diabetes-accelerated atherosclerosis 3. GNAI2 has emerging roles in multiple diseases. In nonalcoholic steatohepatitis (NASH), GNAI2 upregulation exacerbates disease by binding peroxiredoxin 1 and promoting inflammation and lipid accumulation; GNAI2 inhibition restores lipophagy 4. In colitis-associated colorectal cancer, elevated GNAI2 in dendritic cells drives IL6-mediated myeloid-derived suppressor cell expansion and tumorigenesis 5. GNAI2 is downregulated in early-stage ovarian cancer (54% average reduction) but upregulated in advanced disease, correlating with CREB deregulation and metastatic potential 1. In diabetic nephropathy, GNAI2 acts downstream of C5aR1 in macrophages to promote renal inflammation 6. GNAI2 mutations also associate with Burkitt lymphoma pathogenesis 7 and serve as negative prognostic biomarkers in cholangiocarcinoma 8. These findings position GNAI2 as a multifunctional signaling hub with therapeutic potential across inflammatory and malignant diseases.

Sources cited
1
GNAI2 encodes G protein subunit alpha i2, a component of heterotrimeric G protein signal transduction that regulates adenylyl cyclase and intracellular cAMP levels .
PMID: 24423449
2
GNAI2 couples G protein-coupled receptors to downstream signaling pathways, including TCR signaling where activating mutations enhance ERK/MAPK and PI3K-AKT signaling through RASA2 sequestration .
PMID: 39298586
3
Post-translational modification via S-nitrosylation at Cysteine 66 enables GNAI2-CXCR5 coupling to suppress Hippo pathway kinase LATS1, promoting YAP-dependent endothelial inflammation in diabetes-accelerated atherosclerosis .
PMID: 34294713
4
In nonalcoholic steatohepatitis (NASH), GNAI2 upregulation exacerbates disease by binding peroxiredoxin 1 and promoting inflammation and lipid accumulation; GNAI2 inhibition restores lipophagy .
PMID: 34322898
5
In colitis-associated colorectal cancer, elevated GNAI2 in dendritic cells drives IL6-mediated myeloid-derived suppressor cell expansion and tumorigenesis .
PMID: 30836096
6
In diabetic nephropathy, GNAI2 acts downstream of C5aR1 in macrophages to promote renal inflammation .
PMID: 40072066
7
GNAI2 mutations also associate with Burkitt lymphoma pathogenesis and serve as negative prognostic biomarkers in cholangiocarcinoma .
PMID: 36201743
8
GNAI2 mutations also associate with Burkitt lymphoma pathogenesis and serve as negative prognostic biomarkers in cholangiocarcinoma .
PMID: 36868481
Disease Associationsβ“˜20
adrenal cortex carcinomaOpen Targets
0.42Moderate
ovarian granulosa cell tumorOpen Targets
0.42Moderate
ovarian granulosa tumourOpen Targets
0.42Moderate
syndromic intellectual disabilityOpen Targets
0.37Weak
non-Hodgkins lymphomaOpen Targets
0.35Weak
pituitary-dependent Cushing's diseaseOpen Targets
0.33Weak
ventricular tachycardiaOpen Targets
0.33Weak
Decreased circulating total IgMOpen Targets
0.27Weak
hypopituitarismOpen Targets
0.27Weak
Motor delayOpen Targets
0.27Weak
Recurrent infectionsOpen Targets
0.27Weak
Retractile testisOpen Targets
0.27Weak
Short statureOpen Targets
0.27Weak
B-cell non-Hodgkins lymphomaOpen Targets
0.16Weak
generalised epilepsyOpen Targets
0.13Weak
neoplasmOpen Targets
0.13Weak
familial isolated pituitary adenomaOpen Targets
0.12Weak
Prolonged QT intervalOpen Targets
0.12Weak
gastric cancerOpen Targets
0.08Suggestive
Autosomal recessive early-onset inflammatory bowel diseaseOpen Targets
0.07Suggestive
Pathogenic Variants5
NM_002070.4(GNAI2):c.545C>T (p.Thr182Ile)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 182
NM_002070.4(GNAI2):c.536G>A (p.Arg179His)Pathogenic
Ovarian granulosa cell tumor|Adrenocortical tumor, somatic|Thecoma, somatic|not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 179
NM_002070.4(GNAI2):c.544A>C (p.Thr182Pro)Likely pathogenic
6 conditions|Neoplasm
β˜…β˜†β˜†β˜†2021β†’ Residue 182
NM_002070.4(GNAI2):c.600T>A (p.Phe200Leu)Pathogenic
Ventricular tachycardia, somatic
β˜†β˜†β˜†β˜†1998β†’ Residue 200
NM_002070.4(GNAI2):c.535C>G (p.Arg179Gly)Pathogenic
Pituitary dependent hypercortisolism
β˜†β˜†β˜†β˜†1995β†’ Residue 179
View on ClinVar β†—
Related Genes
GNG4Protein interaction100%GNG2Protein interaction100%GNG7Protein interaction100%GNG5Protein interaction100%GNG10Protein interaction100%MAPK3Protein interaction99%
Tissue Expression6 tissues
Lung
100%
Bone Marrow
82%
Heart
52%
Ovary
48%
Brain
46%
Liver
43%
Gene Interaction Network
Click a node to explore
GNAI2GNG4GNG2GNG7GNG5GNG10MAPK3
PROTEIN STRUCTURE
Preparing viewer…
PDB8THK Β· 2.60 Γ… Β· EM
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.23Highly Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.09 [0.04–0.23]
RankingsWhere GNAI2 stands among ~20K protein-coding genes
  • #1,386of 20,598
    Most Researched268 Β· top 10%
  • #3,475of 5,498
    Most Pathogenic Variants5
  • #622of 17,882
    Most Constrained (LOEUF)0.23 Β· top 5%
Genes detectedGNAI2
Sources retrieved25 papers
Response timeβ€”
πŸ“„ Sources
25β–Ό
1
Liquid biopsy-based protein biomarkers for risk prediction, early diagnosis, and prognostication of cholangiocarcinoma.
PMID: 36868481
J Hepatol Β· 2023
1.00
2
S-nitrosylation-mediated coupling of G-protein alpha-2 with CXCR5 induces Hippo/YAP-dependent diabetes-accelerated atherosclerosis.
PMID: 34294713
Nat Commun Β· 2021
0.90
3
Genetic subgroups inform on pathobiology in adult and pediatric Burkitt lymphoma.
PMID: 36201743
Blood Β· 2023
0.80
4
Germline mutations in a G protein identify signaling cross-talk in T cells.
PMID: 39298586
Science Β· 2024
0.70
5
MAGIS syndrome: phenotypes, pathogenesis, and treatment.
PMID: 40926810
J Hum Immun Β· 2025
0.68