Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	2775
Gene name Gene Name - the full gene name approved by the HGNC.	G protein subunit alpha o1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	GNAO1
Synonyms (NCBI Gene) Gene synonyms aliases	DEE17, EIEE17, G-ALPHA-o, GNAO, HG1G, HLA-DQB1, NEDIM
Chromosome Chromosome number	16
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	16q13
Summary Summary of gene provided in NCBI Entrez Gene.	The protein encoded by this gene represents the alpha subunit of the Go heterotrimeric G-protein signal-transducing complex. Defects in this gene are a cause of early-onset epileptic encephalopathy. Two transcript variants encoding different isoforms have

Show/Hide all(24)

SNP ID	Visualize variation	Clinical significance	Consequence
rs587777054	T>A	Pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs587777055	A>G	Pathogenic	Missense variant, coding sequence variant
rs587777056	CATTCAAGAACCTCCACTTCA>-	Pathogenic	Inframe deletion, coding sequence variant
rs587777057	G>A,C	Pathogenic	Missense variant, coding sequence variant
rs797044878	G>A,T	Uncertain-significance, likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs797044951	G>A,C	Pathogenic, likely-pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs878853051	A>G	Likely-pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs886039494	C>G,T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs1057518440	C>A	Pathogenic	Coding sequence variant, missense variant
rs1057518678	A>G	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs1064794533	G>A	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs1064795384	T>A	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs1064797211	GT>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1085307876	G>A	Pathogenic	Genic downstream transcript variant, intron variant
rs1085307894	A>C	Pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs1085307932	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1114167431	A>G	Pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs1555507477	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1555507479	C>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1555508316	T>C	Pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs1567488305	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1596867702	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1596871452	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1596872804	G>A	Pathogenic	Splice donor variant

Show/Hide all(70)

miRTarBase ID	miRNA	Experiments
MIRT1023483	hsa-miR-1231	CLIP-seq
MIRT1023484	hsa-miR-1285	CLIP-seq
MIRT1023485	hsa-miR-151-3p	CLIP-seq
MIRT1023486	hsa-miR-3119	CLIP-seq
MIRT1023487	hsa-miR-3150a-3p	CLIP-seq
MIRT1023488	hsa-miR-3175	CLIP-seq
MIRT1023489	hsa-miR-3184	CLIP-seq
MIRT1023490	hsa-miR-3187-5p	CLIP-seq
MIRT1023491	hsa-miR-34a	CLIP-seq
MIRT1023492	hsa-miR-34c-5p	CLIP-seq
MIRT1023493	hsa-miR-378g	CLIP-seq
MIRT1023494	hsa-miR-411	CLIP-seq
MIRT1023495	hsa-miR-423-5p	CLIP-seq
MIRT1023496	hsa-miR-4302	CLIP-seq
MIRT1023497	hsa-miR-4463	CLIP-seq
MIRT1023498	hsa-miR-4486	CLIP-seq
MIRT1023499	hsa-miR-4499	CLIP-seq
MIRT1023500	hsa-miR-449a	CLIP-seq
MIRT1023501	hsa-miR-449b	CLIP-seq
MIRT1023502	hsa-miR-4651	CLIP-seq
MIRT1023503	hsa-miR-4662a-3p	CLIP-seq
MIRT1023504	hsa-miR-4728-5p	CLIP-seq
MIRT1023505	hsa-miR-491-5p	CLIP-seq
MIRT1023506	hsa-miR-608	CLIP-seq
MIRT1023507	hsa-miR-612	CLIP-seq
MIRT1023508	hsa-miR-939	CLIP-seq
MIRT1023509	hsa-miR-1254	CLIP-seq
MIRT1023510	hsa-miR-1291	CLIP-seq
MIRT1023511	hsa-miR-21	CLIP-seq
MIRT1023512	hsa-miR-214	CLIP-seq
MIRT1023513	hsa-miR-2277-3p	CLIP-seq
MIRT1023514	hsa-miR-2355-5p	CLIP-seq
MIRT1023515	hsa-miR-3064-5p	CLIP-seq
MIRT1023516	hsa-miR-3116	CLIP-seq
MIRT1023517	hsa-miR-328	CLIP-seq
MIRT1023518	hsa-miR-3619-5p	CLIP-seq
MIRT1023519	hsa-miR-3660	CLIP-seq
MIRT1023520	hsa-miR-370	CLIP-seq
MIRT1023521	hsa-miR-4269	CLIP-seq
MIRT1023522	hsa-miR-4270	CLIP-seq
MIRT1023523	hsa-miR-4441	CLIP-seq
MIRT1023524	hsa-miR-4526	CLIP-seq
MIRT1023525	hsa-miR-4529-5p	CLIP-seq
MIRT1023526	hsa-miR-4645-5p	CLIP-seq
MIRT1023527	hsa-miR-4673	CLIP-seq
MIRT1023528	hsa-miR-4687-3p	CLIP-seq
MIRT1023529	hsa-miR-4718	CLIP-seq
MIRT1023530	hsa-miR-590-5p	CLIP-seq
MIRT1023531	hsa-miR-596	CLIP-seq
MIRT1023532	hsa-miR-637	CLIP-seq
MIRT1023533	hsa-miR-661	CLIP-seq
MIRT1023534	hsa-miR-761	CLIP-seq
MIRT1023535	hsa-miR-873	CLIP-seq
MIRT1023485	hsa-miR-151-3p	CLIP-seq
MIRT1023491	hsa-miR-34a	CLIP-seq
MIRT1023492	hsa-miR-34c-5p	CLIP-seq
MIRT1023494	hsa-miR-411	CLIP-seq
MIRT1023496	hsa-miR-4302	CLIP-seq
MIRT1023497	hsa-miR-4463	CLIP-seq
MIRT1023499	hsa-miR-4499	CLIP-seq
MIRT1023500	hsa-miR-449a	CLIP-seq
MIRT1023501	hsa-miR-449b	CLIP-seq
MIRT1023503	hsa-miR-4662a-3p	CLIP-seq
MIRT2236340	hsa-miR-587	CLIP-seq
MIRT2236341	hsa-miR-885-5p	CLIP-seq
MIRT2540081	hsa-miR-1271	CLIP-seq
MIRT2540082	hsa-miR-182	CLIP-seq
MIRT2540083	hsa-miR-433	CLIP-seq
MIRT2540084	hsa-miR-4470	CLIP-seq
MIRT2540085	hsa-miR-96	CLIP-seq

Show/Hide all(46)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0003924	Function	GTPase activity	IBA
GO:0003924	Function	GTPase activity	IEA
GO:0003924	Function	GTPase activity	TAS	1899283
GO:0003925	Function	G protein activity	IEA
GO:0003925	Function	G protein activity	ISS
GO:0005515	Function	Protein binding	IPI	17500595, 32814053, 33961781, 34685729, 37207277, 37776851
GO:0005525	Function	GTP binding	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005834	Component	Heterotrimeric G-protein complex	IBA
GO:0005834	Component	Heterotrimeric G-protein complex	IDA	29925951
GO:0005886	Component	Plasma membrane	IDA	34685729
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0006904	Process	Vesicle docking involved in exocytosis	IEA
GO:0006936	Process	Muscle contraction	TAS	9050846
GO:0007165	Process	Signal transduction	IEA
GO:0007186	Process	G protein-coupled receptor signaling pathway	IEA
GO:0007186	Process	G protein-coupled receptor signaling pathway	IEA
GO:0007188	Process	Adenylate cyclase-modulating G protein-coupled receptor signaling pathway	IBA
GO:0007188	Process	Adenylate cyclase-modulating G protein-coupled receptor signaling pathway	IEA
GO:0007193	Process	Adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway	IDA	33408414
GO:0007198	Process	Adenylate cyclase-inhibiting serotonin receptor signaling pathway	IDA	29925951
GO:0007212	Process	G protein-coupled dopamine receptor signaling pathway	IBA
GO:0007212	Process	G protein-coupled dopamine receptor signaling pathway	IEA
GO:0007626	Process	Locomotory behavior	IEA
GO:0008016	Process	Regulation of heart contraction	IEA
GO:0010854	Function	Adenylate cyclase regulator activity	ISS
GO:0016020	Component	Membrane	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0019001	Function	Guanyl nucleotide binding	IEA
GO:0030425	Component	Dendrite	IEA
GO:0031683	Function	G-protein beta/gamma-subunit complex binding	IBA
GO:0031683	Function	G-protein beta/gamma-subunit complex binding	IEA
GO:0031821	Function	G protein-coupled serotonin receptor binding	IBA
GO:0031852	Function	Mu-type opioid receptor binding	IBA
GO:0042734	Component	Presynaptic membrane	IEA
GO:0044297	Component	Cell body	IEA
GO:0045211	Component	Postsynaptic membrane	IEA
GO:0046676	Process	Negative regulation of insulin secretion	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0051430	Function	Corticotropin-releasing hormone receptor 1 binding	IBA
GO:0098688	Component	Parallel fiber to Purkinje cell synapse	IEA
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0098982	Component	GABA-ergic synapse	IEA
GO:0099170	Process	Postsynaptic modulation of chemical synaptic transmission	IEA

MIM	HGNC	e!Ensembl
139311	4389	ENSG00000087258

Protein

UniProt ID

P09471

Protein name

Guanine nucleotide-binding protein G(o) subunit alpha (EC 3.6.5.-)

Protein function

Guanine nucleotide-binding proteins (G proteins) function as transducers downstream of G protein-coupled receptors (GPCRs) in numerous signaling cascades (PubMed:29925951, PubMed:33408414). The alpha chain contains the guanine nucleotide binding

PDB

6FUF , 6G79 , 6K41 , 6OIK , 6WWZ , 7D76 , 7D77 , 7EJ0 , 7EJ8 , 7EJA , 7EJK , 7QVM , 7T8X , 7T90 , 7T94 , 7T96 , 7W2Z , 7W6P , 7W7E , 7XJJ , 7Y24 , 8DZQ , 8E9X , 8FN1 , 8HPT , 8HQC , 8I95 , 8I97 , 8I9L , 8I9S , 8IA2 , 8IEC , 8IED , 8IY9 , 8IYH , 8IYW , 8J6D , 8JER , 8JHN , 8JZP , 8JZZ , 8TZQ , 8U02 , 8XWV , 8XX3 , 8XX6 , 8XX7 , 8XXH , 8XXR , 8XXX , 8XXZ

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00503	G-alpha	13 → 343	G-protein alpha subunit	Domain

Sequence

MGCTLSAEERAALERSKAIEKNLKEDGISAAKDVKLLLLGAGESGKSTIVKQMKIIHEDG
FSGEDVKQYKPVVYSNTIQSLAAIVRAMDTLGIEYGDKERKADAKMVCDVVSRMEDTEPF
SAELLSAMMRLWGDSGIQECFNRSREYQLNDSAKYYLDSLDRIGAADYQPTEQDILRTRV
KTTGIVETHFTFKNLHFRLFDVGGQRSERKKWIHCFEDVTAIIFCVALSGYDQVLHEDET
TNRMHESLMLFDSICNNKFFIDTSIILFLNKKDLFGEKIKKSPLTICFPEYTGPNTYEDA
AAYIQAQFESKNRSPNKEIYCHMTCATDTNNIQVVFDAVTDIIIANNLRGCGLY

Sequence length

354

Interactions

View interactions

Show/Hide Causal Diseases (3)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Developmental And Epileptic Encephalopathy	Developmental and epileptic encephalopathy, 17, Developmental and epileptic encephalopathy, 1	rs1057518678, rs1596867702, rs1555508316, rs587777057, rs797044951, rs886041766, rs1085307876, rs587777054, rs2037919953, rs587777055, rs886039494, rs797044878, rs1596787821, rs587777056, rs886041715, rs1555499800 View all (1 more)	N/A
Epileptic Encephalopathy	early infantile epileptic encephalopathy with suppression bursts	rs1555499800, rs1064794533, rs1064795384, rs1596872804, rs797044951, rs1085307876, rs758779535, rs2037920694, rs869312939, rs2037920791, rs886039494, rs1596787821, rs886041766, rs797044878, rs886041715, rs1555507477 View all (1 more)	N/A
Neurodevelopmental Disorder With Involuntary Movements	neurodevelopmental disorder with involuntary movements	rs797044951, rs1555507479, rs1085307876, rs886039494, rs886041766, rs1114167431, rs587777055, rs797044878	N/A

Show/Hide Unknown Diseases (5)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Insomnia	Insomnia	N/A	N/A	GWAS
Mental retardation	intellectual disability	N/A	N/A	ClinVar
Movement Disorders	movement disorder	N/A	N/A	GenCC
Neuroticism	Neuroticism	N/A	N/A	GWAS
Tremor	Essential tremor	N/A	N/A	GWAS

Show/Hide Text Mining Associations (43)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Adenocarcinoma	Associate	28350845
Atrial Fibrillation	Associate	37960721
Autism Spectrum Disorder	Associate	22965006
Brain Diseases	Associate	25014031, 27072799, 27476654, 28747448, 28817111, 30682224, 34685729, 35722775, 36980817, 37001522, 37887313
Breast Neoplasms	Associate	26894955
Carcinogenesis	Associate	23984917, 28350845
Carcinoma Hepatocellular	Associate	23984917
Carcinoma Hepatocellular	Inhibit	34900204
Carcinoma Renal Cell	Associate	26043775
Cerebral Palsy	Associate	35076175, 37034444
Chorea	Associate	35722775, 36054588
Cognition Disorders	Associate	27072799
Colitis	Associate	35725943
Colorectal Neoplasms	Inhibit	29381923
Colorectal Neoplasms	Associate	30987631
Developmental Disabilities	Associate	27072799, 27343026, 30682224, 34685729, 36980817, 37887313
Disease	Associate	30682224, 34685729
Dyskinesia Drug Induced	Associate	30682224
Dyskinesias	Associate	27072799
Dystonia	Associate	35722775, 37034444
Dystonia Dopa responsive	Associate	37034444
Epilepsy	Associate	28747448, 34685729, 36980817, 37001522
Epileptic Encephalopathy Early Infantile 3	Associate	37482918, 37867425, 37887313
Hyperkinesis	Associate	24982418, 36054588
Immunologic Deficiency Syndromes	Inhibit	36980817
Infant Newborn Diseases	Associate	28817111
Infantile Epileptic Dyskinetic Encephalopathy	Associate	28747448
Intellectual Disability	Associate	27072799, 34685729
Language Development Disorders	Associate	36980817
Lesch Nyhan Syndrome	Associate	33875724
Lymphatic Metastasis	Associate	34900204
Motor Disorders	Associate	37001522, 37887313
Movement Disorders	Associate	27072799, 28747448, 30682224, 33446253, 34685729, 35722775, 36980817
Muscle Hypotonia	Associate	30682224
Neoplasms	Associate	24982418
Neurodegenerative Diseases	Associate	34685729
Pseudohypoparathyroidism	Associate	24982418
Rhabdomyolysis	Associate	35725943
Seizures	Associate	27072799, 28747448, 30682224, 35305402, 37887313
Spasms Infantile	Associate	31394400
Storm Syndrome	Associate	35725943
Teratozoospermia	Associate	29901159
Vision Disorders	Associate	36980817

GNAO1 (G protein subunit alpha o1)