Gene Gene information from NCBI Gene database.
Entrez ID 2773
Gene name G protein subunit alpha i3
Gene symbol GNAI3
Synonyms (NCBI Gene)
87U6ARCND1ARCODSHG1A
Chromosome 1
Chromosome location 1p13.3
Summary Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various transmembrane signaling pathways. G proteins are composed of 3 units: alpha, beta and gamma. This gene encodes an alpha subunit and belongs to the G-alph
SNPs SNP information provided by dbSNP.
2
SNP ID Visualize variation Clinical significance Consequence
rs387907178 G>A,C Pathogenic Coding sequence variant, missense variant
rs397514768 C>A Pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
659
miRTarBase ID miRNA Experiments Reference
MIRT002679 hsa-miR-124-3p Microarray 15685193
MIRT002679 hsa-miR-124-3p Microarray;Other 15685193
MIRT023926 hsa-miR-1-3p Proteomics;Microarray 18668037
MIRT025197 hsa-miR-181a-5p Sequencing 20371350
MIRT445890 hsa-miR-3691-3p PAR-CLIP 22100165
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
49
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane IDA 12642577
GO:0000166 Function Nucleotide binding IEA
GO:0001664 Function G protein-coupled receptor binding IBA
GO:0003924 Function GTPase activity IBA
GO:0003924 Function GTPase activity IDA 19478087
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
139370 4387 ENSG00000065135
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P08754
Protein name Guanine nucleotide-binding protein G(i) subunit alpha-3 (G(i) alpha-3)
Protein function Heterotrimeric guanine nucleotide-binding proteins (G proteins) function as transducers downstream of G protein-coupled receptors (GPCRs) in numerous signaling cascades. The alpha chain contains the guanine nucleotide binding site and alternates
PDB 2IHB , 2ODE , 2V4Z , 4G5O , 4G5R , 4G5S , 7E9H , 7KH0 , 7RA3 , 7RGP , 7T10 , 7T11 , 7X6I , 8GVX , 8JD6 , 8K9L , 8OY1 , 8SZH , 8SZI , 8WGB , 9AVL
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00503 G-alpha 13 343 G-protein alpha subunit Domain
Sequence
Sequence length 354
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
26
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Auriculocondylar syndrome 1 Likely pathogenic; Pathogenic rs2524277212, rs387907178, rs1553223897, rs397514768 RCV003885326
RCV000024332
RCV003486856
RCV000054837
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign rs17024018 RCV005918674
Cervical cancer Benign rs17024018 RCV005918675
Familial pancreatic carcinoma Benign rs115827280 RCV005927878
GNAI3-related disorder Benign; Uncertain significance; Likely benign rs781178254, rs61758986, rs750979199, rs758232853, rs199684276, rs1260117647, rs61758987, rs138850957 RCV003918901
RCV003422432
RCV003902223
RCV003904226
RCV003941413
RCV003934136
RCV004756079
RCV003958388
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 31402485
Albinism Ocular Associate 27607449
Alzheimer Disease Associate 36776048, 39392298
Auriculo condylar syndrome Associate 22560091, 24268655, 25026904, 33723370, 34789173
Carcinoma Hepatocellular Associate 9362361
Craniofacial Abnormalities Associate 30504818
Esophageal Neoplasms Associate 23874846
Growth Hormone Secreting Pituitary Adenoma Associate 25291362
Lesch Nyhan Syndrome Stimulate 28056107
Micrognathism Associate 33723370