• Gene id: 2775

Gene Summary

• Gene Symbol: GNAO1   Gene   UCSC   Ensembl
• Aliases: EIEE17, G-ALPHA-o, GNAO, HLA-DQB1, NEDIM
• Gene name: G protein subunit alpha o1
• Alternate names: guanine nucleotide-binding protein G(o) subunit alpha, GO2-q chimeric G-protein, guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O, guanine nucleotide-binding regulatory protein 2,
• Gene location: 16q13 (65420651: 65637492)     Exons: 24     NC_000001.11
• Gene summary(Entrez): 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
• OMIM: 139311

SNPs

rs2126986

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000016.10   g.56317795A>G
NC_000016.9   g.56351707A>G
NG_042800.1   g.131457A>G|SEQ=[A/G]|GENE=GNAO1

Protein Summary

• Protein general information: P09471  
  • Name: Guanine nucleotide binding protein G(o) subunit alpha
  • Length: 354  
  • Mass: 40,051
• Sequence:

  MGCTLSAEERAALERSKAIEKNLKEDGISAAKDVKLLLLGAGESGKSTIVKQMKIIHEDGFSGEDVKQYKPVVYS
  NTIQSLAAIVRAMDTLGIEYGDKERKADAKMVCDVVSRMEDTEPFSAELLSAMMRLWGDSGIQECFNRSREYQLN
  DSAKYYLDSLDRIGAADYQPTEQDILRTRVKTTGIVETHFTFKNLHFRLFDVGGQRSERKKWIHCFEDVTAIIFC
  VALSGYDQVLHEDETTNRMHESLMLFDSICNNKFFIDTSIILFLNKKDLFGEKIKKSPLTICFPEYTGPNTYEDA
  AAYIQAQFESKNRSPNKEIYCHMTCATDTNNIQVVFDAVTDIIIANNLRGCGLY

• Structural information:
  • Interpro: IPR001408  IPR001019  IPR011025  IPR027417  
  • CDD: cd00066
  • STRING: ENSP00000262493
• Other Databases: GeneCards:  GNAO1  Malacards:  GNAO1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003924	GTPase activity	TAS	molecular function
GO:0004871	signal transducer activity	IBA	molecular function
GO:0005525	GTP binding	TAS	molecular function
GO:0005834	heterotrimeric G-protein complex	IBA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0006457	protein folding	TAS	biological process
GO:0006936	muscle contraction	TAS	biological process
GO:0007188	adenylate cyclase-modulating G-protein coupled receptor signaling pathway	IBA	biological process
GO:0007212	dopamine receptor signaling pathway	IBA	biological process
GO:0007223	Wnt signaling pathway, calcium modulating pathway	TAS	biological process
GO:0007568	aging	IEA	biological process
GO:0007626	locomotory behavior	IEA	biological process
GO:0008016	regulation of heart contraction	IEA	biological process
GO:0030425	dendrite	IEA	cellular component
GO:0030900	forebrain development	IEA	biological process
GO:0031175	neuron projection development	IEA	biological process
GO:0031683	G-protein beta/gamma-subunit complex binding	IBA	molecular function
GO:0031821	G-protein coupled serotonin receptor binding	IBA	molecular function
GO:0031852	mu-type opioid receptor binding	IBA	molecular function
GO:0032794	GTPase activating protein binding	IEA	molecular function
GO:0034097	response to cytokine	IEA	biological process
GO:0042493	response to drug	IEA	biological process
GO:0042542	response to hydrogen peroxide	IEA	biological process
GO:0043209	myelin sheath	IEA	cellular component
GO:0043278	response to morphine	IEA	biological process
GO:0043547	positive regulation of GTPase activity	IEA	biological process
GO:0044297	cell body	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0051430	corticotropin-releasing hormone receptor 1 binding	IBA	molecular function
GO:0051926	negative regulation of calcium ion transport	IEA	biological process
GO:0000166	nucleotide binding	IEA	molecular function
GO:0003924	GTPase activity	IEA	molecular function
GO:0003924	GTPase activity	IEA	molecular function
GO:0003924	GTPase activity	TAS	molecular function
GO:0003924	GTPase activity	TAS	molecular function
GO:0004871	signal transducer activity	IEA	molecular function
GO:0004871	signal transducer activity	IBA	molecular function
GO:0004871	signal transducer activity	IEA	molecular function
GO:0005525	GTP binding	IEA	molecular function
GO:0005525	GTP binding	IEA	molecular function
GO:0005525	GTP binding	IEA	molecular function
GO:0005525	GTP binding	TAS	molecular function
GO:0005834	heterotrimeric G-protein complex	IBA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0006457	protein folding	TAS	biological process
GO:0006936	muscle contraction	TAS	biological process
GO:0007165	signal transduction	IEA	biological process
GO:0007165	signal transduction	IEA	biological process
GO:0007186	G-protein coupled receptor signaling pathway	IEA	biological process
GO:0007186	G-protein coupled receptor signaling pathway	IEA	biological process
GO:0007188	adenylate cyclase-modulating G-protein coupled receptor signaling pathway	IEA	biological process
GO:0007188	adenylate cyclase-modulating G-protein coupled receptor signaling pathway	IBA	biological process
GO:0007212	dopamine receptor signaling pathway	IEA	biological process
GO:0007212	dopamine receptor signaling pathway	IBA	biological process
GO:0007223	Wnt signaling pathway, calcium modulating pathway	TAS	biological process
GO:0007568	aging	IEA	biological process
GO:0007626	locomotory behavior	IEA	biological process
GO:0008016	regulation of heart contraction	IEA	biological process
GO:0009987	cellular process	IEA	biological process
GO:0010243	response to organonitrogen compound	IEA	biological process
GO:0014070	response to organic cyclic compound	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0019001	guanyl nucleotide binding	IEA	molecular function
GO:0030425	dendrite	IEA	cellular component
GO:0030900	forebrain development	IEA	biological process
GO:0031175	neuron projection development	IEA	biological process
GO:0031683	G-protein beta/gamma-subunit complex binding	IEA	molecular function
GO:0031683	G-protein beta/gamma-subunit complex binding	IBA	molecular function
GO:0031821	G-protein coupled serotonin receptor binding	IEA	molecular function
GO:0031821	G-protein coupled serotonin receptor binding	IBA	molecular function
GO:0031852	mu-type opioid receptor binding	IEA	molecular function
GO:0031852	mu-type opioid receptor binding	IBA	molecular function
GO:0032403	protein complex binding	IEA	molecular function
GO:0032794	GTPase activating protein binding	IEA	molecular function
GO:0034097	response to cytokine	IEA	biological process
GO:0042493	response to drug	IEA	biological process
GO:0042542	response to hydrogen peroxide	IEA	biological process
GO:0043005	neuron projection	IEA	cellular component
GO:0043209	myelin sheath	IEA	cellular component
GO:0043234	protein complex	IEA	cellular component
GO:0043278	response to morphine	IEA	biological process
GO:0043547	positive regulation of GTPase activity	IEA	biological process
GO:0044297	cell body	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0051430	corticotropin-releasing hormone receptor 1 binding	IEA	molecular function
GO:0051430	corticotropin-releasing hormone receptor 1 binding	IBA	molecular function
GO:0051926	negative regulation of calcium ion transport	IEA	biological process
GO:0003924	GTPase activity	TAS	molecular function
GO:0003924	GTPase activity	TAS	molecular function
GO:0004871	signal transducer activity	IBA	molecular function
GO:0005525	GTP binding	TAS	molecular function
GO:0005834	heterotrimeric G-protein complex	IBA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0006457	protein folding	TAS	biological process
GO:0006936	muscle contraction	TAS	biological process
GO:0007188	adenylate cyclase-modulating G-protein coupled receptor signaling pathway	IBA	biological process
GO:0007212	dopamine receptor signaling pathway	IBA	biological process
GO:0007223	Wnt signaling pathway, calcium modulating pathway	TAS	biological process
GO:0031683	G-protein beta/gamma-subunit complex binding	IBA	molecular function
GO:0031821	G-protein coupled serotonin receptor binding	IBA	molecular function
GO:0031852	mu-type opioid receptor binding	IBA	molecular function
GO:0051430	corticotropin-releasing hormone receptor 1 binding	IBA	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04915	Estrogen signaling pathway
hsa04921	Oxytocin signaling pathway
hsa04926	Relaxin signaling pathway
hsa04916	Melanogenesis
hsa04724	Glutamatergic synapse
hsa04727	GABAergic synapse
hsa04725	Cholinergic synapse
hsa04728	Dopaminergic synapse
hsa04726	Serotonergic synapse
hsa04730	Long-term depression
hsa04723	Retrograde endocannabinoid signaling
hsa04713	Circadian entrainment
hsa05032	Morphine addiction
hsa05034	Alcoholism
hsa05170	Human immunodeficiency virus 1 infection
hsa05163	Human cytomegalovirus infection
hsa05145	Toxoplasmosis
hsa05142	Chagas disease

Diseases

Associated diseases	References
Hypercholesterolemia	GAD: 20602615
Male factor infertility	MIK: 24549219
Non obstructive azoospermia	MIK: 24549219
Early infantile epileptic encephalopathy	KEGG: H00606
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Non-obstructive azoospermia (NOA)	MIK: 24549219
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
24549219	non-obstructive azoospermia (NOA)	rs1406714 in CHD2, rs2126986 in GNAO1, rs7226979 in BCL2		3982 (1653 NOA cases, 2329 controls)	Male infertility	CHD2 GNAO1 and BCL2
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq