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GeneE
26 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
GNAI3
G protein subunit alpha i3
Chromosome 1 Β· 1p13.3
NCBI Gene: 2773Ensembl: ENSG00000065135.13HGNC: HGNC:4387UniProt: P08754
235PubMed Papers
21Diseases
0Drugs
8Pathogenic Variants
FUNCTIONAL ROLE
Hub Gene
RESEARCH IMPACT
Trending
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
Golgi membraneendoplasmic reticulum membranepositive regulation of macroautophagyGTP metabolic processauriculocondylar syndromeAgnathia - holoprosencephaly - situs inversusgenetic disorderAbnormality of the skeletal system
✦AI Summary

GNAI3 encodes a heterotrimeric G protein alpha subunit that functions as a critical transducer of G protein-coupled receptor (GPCR) signaling. As a GTPase, GNAI3 cycles between active GTP-bound and inactive GDP-bound states to modulate downstream effectors 1. The protein inhibits adenylate cyclase activity and stimulates potassium channel activity, regulating intracellular cAMP levels and cellular excitability 2. GNAI3 also activates calcium-permeable TRPC5 ion channels in their active GTP-bound state. GNAI3 plays important roles in cellular homeostasis through multiple pathways. It regulates spermatogonial stem cell proliferation and apoptosis via interaction with RGS14 and the PLPP2-MAPK signaling axis 3. In immune contexts, GNAI3 suppresses colitis-associated tumorigenesis by blocking IL-6 signaling and reducing myeloid-derived suppressor cell expansion 4. GNAI3 also inhibits hepatocellular carcinoma cell migration and invasion, with expression downregulated by miR-222 in tumors 5. Additionally, GNAI3 maintains cochlear hair cell stereocilia and hearing function, with its expression regulated by the RNA-binding protein HuR 6. Clinically, loss-of-function GNAI3 mutations cause auriculocondylar syndrome, a craniofacial malformation characterized by micrognathia and mandibular hypoplasia resulting from disrupted endothelin-1-DLX5/6 signaling 17. These findings establish GNAI3 as a multifunctional signaling molecule with therapeutic potential in cancer, male infertility, and sensory disorders.

Sources cited
1
GNAI3 suppresses colitis-associated tumorigenesis by blocking IL-6 signaling and myeloid-derived suppressor cell expansion
PMID: 30836096
2
GNAI3 expression is regulated by HuR and maintains cochlear hair cell stereocilia for age-related hearing loss
PMID: 40394214
3
GNAI3 interacts with RGS14 to regulate spermatogonial stem cell proliferation via PLPP2-MAPK signaling
PMID: 40352663
4
Loss-of-function GNAI3 mutations cause auriculocondylar syndrome via disruption of endothelin-1-DLX5/6 pathway signaling
PMID: 22560091
5
GNAI3 mediates neuroprotection against ischemia-reperfusion injury through Akt-mTOR signaling activation
PMID: 37880221
6
Novel GNAI3 missense variant identified in auriculocondylar syndrome affecting guanine nucleotide-binding site
PMID: 33723370
7
GNAI3 inhibits hepatocellular carcinoma cell migration and invasion; expression downregulated by miR-222
PMID: 25444921
Disease Associationsβ“˜21
auriculocondylar syndromeOpen Targets
0.76Strong
Agnathia - holoprosencephaly - situs inversusOpen Targets
0.37Weak
genetic disorderOpen Targets
0.19Weak
Abnormality of the skeletal systemOpen Targets
0.09Suggestive
non-alcoholic fatty liver diseaseOpen Targets
0.07Suggestive
autosomal recessive spondylocostal dysostosisOpen Targets
0.07Suggestive
spondylocostal dysostosis 2, autosomal recessiveOpen Targets
0.07Suggestive
glioblastoma multiformeOpen Targets
0.06Suggestive
spondylocostal dysostosis 5Open Targets
0.06Suggestive
autosomal dominant brachyolmiaOpen Targets
0.06Suggestive
thoracolaryngopelvic dysplasiaOpen Targets
0.06Suggestive
spondylometaphyseal dysplasia, A4 typeOpen Targets
0.06Suggestive
Klippel-Feil syndrome 3, autosomal dominantOpen Targets
0.06Suggestive
Becker nevus syndromeOpen Targets
0.06Suggestive
Chronic mucocutaneous candidosisOpen Targets
0.06Suggestive
brachyolmia, Maroteaux typeOpen Targets
0.05Suggestive
spondylocostal dysostosis 1, autosomal recessiveOpen Targets
0.05Suggestive
thoracic dysostosis, isolatedOpen Targets
0.05Suggestive
Posterior fusion of lumbosacral vertebrae - blepharoptosisOpen Targets
0.05Suggestive
posterior fusion of lumbosacral vertebrae-blepharoptosis syndromeOpen Targets
0.05Suggestive
Auriculocondylar syndrome 1UniProt
Pathogenic Variants8
NM_006496.4(GNAI3):c.140G>A (p.Ser47Asn)Pathogenic
Auriculocondylar syndrome 1|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 47
NM_006496.4(GNAI3):c.118G>C (p.Gly40Arg)Pathogenic
Auriculocondylar syndrome 1|not provided
β˜…β˜…β˜†β˜†2023β†’ Residue 40
NM_006496.4(GNAI3):c.119G>T (p.Gly40Val)Likely pathogenic
not provided
β˜…β˜…β˜†β˜†2023β†’ Residue 40
NM_006496.4(GNAI3):c.805A>T (p.Asn269Tyr)Likely pathogenic
Auriculocondylar syndrome 1
β˜…β˜†β˜†β˜†2025β†’ Residue 269
NM_006496.4(GNAI3):c.645dup (p.Glu216Ter)Pathogenic
Auriculocondylar syndrome 1
β˜…β˜†β˜†β˜†2024β†’ Residue 216
NM_006496.4(GNAI3):c.136A>G (p.Lys46Glu)Likely pathogenic
Auriculocondylar syndrome 1
β˜…β˜†β˜†β˜†2023β†’ Residue 46
NM_006496.4(GNAI3):c.143C>A (p.Thr48Asn)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2017β†’ Residue 48
NM_006496.4(GNAI3):c.141C>A (p.Ser47Arg)Pathogenic
Auriculocondylar syndrome 1
β˜†β˜†β˜†β˜†2013β†’ Residue 47
View on ClinVar β†—
Related Genes
GNG4Protein interaction100%GNG5Protein interaction100%GNG2Protein interaction100%GNG10Protein interaction100%GNG7Protein interaction100%MAPK3Protein interaction99%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
69%
Lung
45%
Liver
41%
Ovary
34%
Heart
25%
Gene Interaction Network
Click a node to explore
GNAI3GNG4GNG5GNG2GNG10GNG7MAPK3
PROTEIN STRUCTURE
Preparing viewer…
PDB2ODE Β· 1.90 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.11LoF Tolerant
pLIβ“˜
0.17Tolerant
Observed/Expected LoF0.49 [0.24–1.11]
RankingsWhere GNAI3 stands among ~20K protein-coding genes
  • #1,686of 20,598
    Most Researched235 Β· top 10%
  • #3,028of 5,498
    Most Pathogenic Variants8
  • #11,415of 17,882
    Most Constrained (LOEUF)1.11
Genes detectedGNAI3
Sources retrieved26 papers
Response timeβ€”
πŸ“„ Sources
26β–Ό
1
GNAI1 and GNAI3 Reduce Colitis-Associated Tumorigenesis in Mice by Blocking IL6 Signaling and Down-regulating Expression of GNAI2.
PMID: 30836096
Gastroenterology Β· 2019
1.00
2
mRNA metabolism regulator human antigen R (HuR) regulates age-related hearing loss in aged mice.
PMID: 40394214
Nat Aging Β· 2025
0.90
3
RGS14 binds to GNAI3 and regulates the proliferation and apoptosis of human spermatogonial stem cells by affecting PLPP2 expression and MAPK signaling.
PMID: 40352663
Front Cell Dev Biol Β· 2025
0.80
4
Analyses of Gnai3-iresGFP reporter mice reveal unknown GΞ±
PMID: 34253772
Sci Rep Β· 2021
0.72
5
A human homeotic transformation resulting from mutations in PLCB4 and GNAI3 causes auriculocondylar syndrome.
PMID: 22560091
Am J Hum Genet Β· 2012
0.70