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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
19
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
Auriculocondylar syndrome 1 Likely pathogenic; Pathogenic rs2524277212, rs387907178, rs1553223897, rs397514768 RCV003885326
RCV000024332
RCV003486856
RCV000054837
★★★★☆
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
Acute myeloid leukemia Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AMNESIA CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AMNESTIC DISORDER Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AURICULO-CONDYLAR SYNDROME CTD, Disgenet
CTD, Disgenet
★★☆☆☆
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
Albinism Ocular Ocular albinism Pubtator 27607449 Associate
★☆☆☆☆
Found in Text Mining only
Albinism, Ocular Ocular albinism BEFREE 27607449
★☆☆☆☆
Found in Text Mining only
Albinism, Ocular Ocular albinism GENOMICS_ENGLAND_DG 27607449
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 36776048, 39392298 Associate
★☆☆☆☆
Found in Text Mining only
Amnesia Amnesia CTD_human_DG 11350863
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Auriculo-condylar syndrome Auriculocondylar syndrome BEFREE 22560091, 25026904, 28328130
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Auriculo-condylar syndrome Auriculocondylar syndrome ORPHANET_DG 22560091
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Auriculo-condylar syndrome Auriculocondylar syndrome CTD_human_DG
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Auriculo-condylar syndrome Auriculocondylar syndrome GENOMICS_ENGLAND_DG
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Auriculocondylar syndrome Auriculocondylar Syndrome Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations