ENSG00000114353


Homo sapiens

Features
Gene ID: ENSG00000114353
  
Biological name :GNAI2
  
Synonyms : GNAI2 / G protein subunit alpha i2 / P04899
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 3
Strand: 1
Band: p21.31
Gene start: 50226292
Gene end: 50259355
  
Corresponding Affymetrix probe sets: 201040_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000406871
Ensembl peptide - ENSP00000406065
Ensembl peptide - ENSP00000406369
Ensembl peptide - ENSP00000266027
Ensembl peptide - ENSP00000312999
Ensembl peptide - ENSP00000394321
Ensembl peptide - ENSP00000395736
NCBI entrez gene - 2771     See in Manteia.
OMIM - 139360
RefSeq - NM_001282617
RefSeq - NM_001166425
RefSeq - NM_001282618
RefSeq - NM_001282619
RefSeq - NM_001282620
RefSeq - NM_002070
RefSeq Peptide - NP_002061
RefSeq Peptide - NP_001269547
RefSeq Peptide - NP_001269548
RefSeq Peptide - NP_001269549
RefSeq Peptide - NP_001159897
RefSeq Peptide - NP_001269546
swissprot - P04899
swissprot - F8WE78
swissprot - F8WBG4
Ensembl - ENSG00000114353
  
Related genetic diseases (OMIM): 139360 - Pituitary ACTH-secreting adenoma
  192605 - Ventricular tachycardia, idiopathic, 192605
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 gnai2aENSDARG00000018174Danio rerio
 gnai2bENSDARG00000017294Danio rerio
 GNAI2ENSGALG00000035645Gallus gallus
 Gnai2ENSMUSG00000032562Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
GNAI1 / P63096 / G protein subunit alpha i1ENSG0000012795588
GNAI3 / P08754 / G protein subunit alpha i3ENSG0000006513586
GNAT2 / P19087 / G protein subunit alpha transducin 2ENSG0000013418370
GNAO1 / P09471 / G protein subunit alpha o1ENSG0000008725870
GNAT3 / A8MTJ3 / G protein subunit alpha transducin 3ENSG0000021441568
GNAT1 / P11488 / G protein subunit alpha transducin 1ENSG0000011434966
GNAZ / P19086 / G protein subunit alpha zENSG0000012826666
GNA14 / O95837 / G protein subunit alpha 14ENSG0000015604950
GNAQ / P50148 / G protein subunit alpha qENSG0000015605250
GNA11 / P29992 / G protein subunit alpha 11ENSG0000008825650
GNA15 / P30679 / G protein subunit alpha 15ENSG0000006055843
GNA13 / Q14344 / G protein subunit alpha 13ENSG0000012006340
GNA12 / Q03113 / G protein subunit alpha 12ENSG0000014653539


Protein motifs (from Interpro)
Interpro ID Name
 IPR001019  Guanine nucleotide binding protein (G-protein), alpha subunit
 IPR001408  G-protein alpha subunit, group I
 IPR011025  G protein alpha subunit, helical insertion
 IPR027417  P-loop containing nucleoside triphosphate hydrolase


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000186 activation of MAPKK activity IEA
 biological_processGO:0001973 adenosine receptor signaling pathway IBA
 biological_processGO:0006457 protein folding TAS
 biological_processGO:0007049 cell cycle IEA
 biological_processGO:0007165 signal transduction TAS
 biological_processGO:0007186 G-protein coupled receptor signaling pathway TAS
 biological_processGO:0007188 adenylate cyclase-modulating G-protein coupled receptor signaling pathway IEA
 biological_processGO:0007193 adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway IBA
 biological_processGO:0007194 negative regulation of adenylate cyclase activity TAS
 biological_processGO:0007213 G-protein coupled acetylcholine receptor signaling pathway IEA
 biological_processGO:0007214 gamma-aminobutyric acid signaling pathway IBA
 biological_processGO:0007584 response to nutrient TAS
 biological_processGO:0008283 cell proliferation IEA
 biological_processGO:0008284 positive regulation of cell proliferation IEA
 biological_processGO:0035556 intracellular signal transduction IEA
 biological_processGO:0050805 negative regulation of synaptic transmission IEA
 biological_processGO:0051301 cell division IMP
 biological_processGO:0051924 regulation of calcium ion transport IEA
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005654 nucleoplasm IDA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005813 centrosome IDA
 cellular_componentGO:0005815 microtubule organizing center IEA
 cellular_componentGO:0005829 cytosol IDA
 cellular_componentGO:0005834 heterotrimeric G-protein complex IBA
 cellular_componentGO:0005856 cytoskeleton IEA
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0030425 dendrite IEA
 cellular_componentGO:0030496 midbody IDA
 cellular_componentGO:0044297 cell body IEA
 cellular_componentGO:0045121 membrane raft IEA
 cellular_componentGO:0070062 extracellular exosome HDA
 cellular_componentGO:1903561 extracellular vesicle HDA
 molecular_functionGO:0000166 nucleotide binding IEA
 molecular_functionGO:0001664 G-protein coupled receptor binding IBA
 molecular_functionGO:0003924 GTPase activity TAS
 molecular_functionGO:0004871 obsolete signal transducer activity IBA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0005525 GTP binding TAS
 molecular_functionGO:0019001 guanyl nucleotide binding IEA
 molecular_functionGO:0031683 G-protein beta/gamma-subunit complex binding IBA
 molecular_functionGO:0046872 metal ion binding IEA


Pathways (from Reactome)
Pathway description
PLC beta mediated events
Adenylate cyclase inhibitory pathway
G-protein activation
ADP signalling through P2Y purinoceptor 12
Adrenaline,noradrenaline inhibits insulin secretion
G alpha (s) signalling events
G alpha (i) signalling events
G alpha (z) signalling events
Regulation of insulin secretion
Cooperation of PDCL (PhLP1) and TRiC/CCT in G-protein beta folding


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 HP:0001645 Sudden cardiac death 
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 HP:0001939 Metabolism abnormality 
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 HP:0004751 Paroxysmal ventricular tachycardia 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000169313 P2RY12 / Q9H244 / purinergic receptor P2Y12  / complex / reaction
 ENSG00000141404 GNAL / P38405 / G protein subunit alpha L  / complex / reaction
 ENSG00000186469 GNG2 / P59768 / G protein subunit gamma 2  / complex / reaction
 ENSG00000078369 GNB1 / P62873 / G protein subunit beta 1  / complex / reaction






 

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