ADHDgene Database

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Large-scale studies

Data Summary

Published Variant
- SNP: 1391
- CNV: 398
- Others: 173
Published Gene: 359
Published Region: 128
Pathway by PBA: 8
Study: 361

Detail ...

Gene Report

Basic Info

Approved Symbol	GNAO1
Symbol Alias	G-ALPHA-o
Approved Name	guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O
Location	16q13
Position	chr16:56225251-56391356, +
External Links	HGNC: 4389 Entrez Gene: 2775 Ensembl: ENSG00000087258 UCSC: uc002eit.3
No. of Studies	1 (significant: 0; non-significant: 1; trend: 0)
Source	Literature-origin

Gene related studies (count: 1)

Reference	Statistical Values/Author Comments	Result of Statistical Analysis
Turic D, 2004 (b)	3 sequence variants were found in this gene, but none of them achieved even suggestive evidence for association.	Non-significant

Gene related SNPs (count: 0)

Gene related CNVs (count: 0)

Gene related other variant (count: 3)

Variant Name	Variant Type	No. of Studies (significant/non-significant/trend)
GNAO1_T(T)513C(T)	point mutation	1 (0/1/0)
GNAO1_IVS4+22T>C	point mutation	1 (0/1/0)
GNAO1_-1214G>A	point mutation	1 (0/1/0)

Gene related regions (count: 0)

Gene related GO terms (count: 27)

GO terms by PBA (with statistical significance of FDR<0.05) (count: 0)

GO terms by database search (count: 27)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0007626	locomotory behavior	Biological Process		24
GO:0008016	regulation of heart contraction	Biological Process		8
GO:0007212	dopamine receptor signaling pathway	Biological Process		3
GO:0007568	aging	Biological Process		29
GO:0031234	extrinsic to internal side of plasma membrane	Cellular Component		5
GO:0031683	G-protein beta/gamma-subunit complex binding	Molecular Function		4
GO:0030900	forebrain development	Biological Process		9
GO:0031175	neuron projection development	Biological Process		10
GO:0005525	GTP binding	Molecular Function		53
GO:0005834	heterotrimeric G-protein complex	Cellular Component		7
GO:0003924	GTPase activity	Molecular Function		41
GO:0004871	signal transducer activity	Molecular Function		49
GO:0006936	muscle contraction	Biological Process	TAS[9050846]	18
GO:0007188	adenylate cyclase-modulating G-protein coupled receptor signaling pathway	Biological Process		13
GO:0005886	plasma membrane	Cellular Component		772
GO:0006184	GTP catabolic process	Biological Process	TAS[1899283]	22
GO:0051926	negative regulation of calcium ion transport	Biological Process		4
GO:0051430	corticotropin-releasing hormone receptor 1 binding	Molecular Function		1
GO:0046872	metal ion binding	Molecular Function		170
GO:0042493	response to drug	Biological Process		68
GO:0034097	response to cytokine stimulus	Biological Process		9
GO:0031852	mu-type opioid receptor binding	Molecular Function		1
GO:0031821	G-protein coupled serotonin receptor binding	Molecular Function		2
GO:0043547	positive regulation of GTPase activity	Biological Process		10
GO:0043278	response to morphine	Biological Process		9
GO:0043005	neuron projection	Cellular Component		35
GO:0042542	response to hydrogen peroxide	Biological Process		6

Gene related KEGG pathways (count: 5)

ID	Name	No. of Genes in ADHDgene	Brief Description
hsa04730	Long-term depression	27	Cerebellar long-term depression (LTD), thought to be a molec...... Cerebellar long-term depression (LTD), thought to be a molecular and cellular basis for cerebellar learning, is a process involving a decrease in the synaptic strength between parallel fiber (PF) and Purkinje cells (PCs) induced by the conjunctive activation of PFs and climbing fiber (CF). Multiple signal transduction pathways have been shown to be involved in this process. Activation of PFs terminating on spines in dendritic branchlets leads to glutamate release and activation of both AMPA and mGluRs. Activation of CFs, which make multiple synaptic contacts on proximal dendrites, also via AMPA receptors, opens voltage-gated calcium channels (VGCCs) and causes a generalized influx of calcium. These cellular signals, generated from two different synaptic origins, trigger a cascade of events culminating in a phosphorylation-dependent, long-term reduction in AMPA receptor sensitivity at the PF-PC synapse. This may take place either through receptor internalization and/or through receptor desensitization. More...
hsa05145	Toxoplasmosis	33	Toxoplasma gondii is an obligate intracellular parasite that...... Toxoplasma gondii is an obligate intracellular parasite that is prevalent worldwide. The tachyzoite form acquired by oral ingestion downmodulates proinflammatory signaling pathways via various mechanisms. During early infection, nuclear translocation of NFkB is temporally blocked and p38 MAPK phosphorylation is prevented, suppressing IL-12 production. Another pathway for IL-12 induction occurs through CCR5 dependent pathway, but parasitic induction of an eicosanoid LXA4 contributes to the downregulation of IL-12. Direct activation of STAT3 by the parasite enhance anti-inflammatory function of IL-10 and TGF beta. T. gondii can cause lifelong chronic infection by establishing an anti-apoptotic environment through induction of bcl-2 or IAPs and by redirecting LDL-mediated cholesterol transport to scavenge nutrients from the host. More...
hsa04724	Glutamatergic synapse	43	Glutamate is the major excitatory neurotransmitter in the ma...... Glutamate is the major excitatory neurotransmitter in the mammalian central nervous system(CNS). Glutamate is packaged into synaptic vesicles in the presynaptic terminal. Once released into the synaptic cleft, glutamate acts on postsynaptic ionotropic glutamate receptors (iGluRs) to mediate fast excitatory synaptic transmission. Glutamate can also act on metabotropic glutamate receptors (mGluRs) and exert a variety of modulatory effects through their coupling to G proteins and the subsequent recruitment of second messenger systems. Presynaptically localized Group II and Group III mGluRs are thought to represent the classical inhibitory autoreceptor mechanism that suppresses excess glutamate release. After its action on these receptors, glutamate can be removed from the synaptic cleft by EAATs located either on the presynaptic terminal, neighboring glial cells, or the postsynaptic neuron. In glia, glutamate is converted to glutamine, which is then transported back to the presynaptic terminal and converted back to glutamate. More...
hsa05142	Chagas disease (American trypanosomiasis)	23	Trypanosoma cruzi is an intracellular protozoan parasite tha...... Trypanosoma cruzi is an intracellular protozoan parasite that causes Chagas disease. The parasite life cycle involves hematophagous reduviid bugs as vectors. Once parasites enter the host body, they invade diverse host cells including cardiomyocytes. Establishment of infection depends on various parasite molecules such as cruzipain, oligopeptidase B, and trans-sialidase that activate Ca2+ signaling. Internalized parasites escape from the parasitophorous vacuole using secreted pore-forming TcTOX molecule and replicate in the cytosol. Multiplied parasites eventually lyse infected host cells and are released in the circulation. During these events, the parasites manipulate host innate immunity and elicit cardiomyocyte hypertrophy. T lymphocyte responses are also disturbed. More...
hsa04916	Melanogenesis	15	Cutaneous melanin pigment plays a critical role in camouflag...... Cutaneous melanin pigment plays a critical role in camouflage, mimicry, social communication, and protection against harmful effects of solar radiation. Melanogenesis is under complex regulatory control by multiple agents. The most important positive regulator of melanogenesis is the MC1 receptor with its ligands melanocortic peptides. MC1R activates the cyclic AMP (cAMP) response-element binding protein (CREB). Increased expression of MITF and its activation by phosphorylation (P) stimulate the transcription of tyrosinase (TYR), tyrosinase-related protein 1 (TYRP1), and dopachrome tautomerase (DCT), which produce melanin. Melanin synthesis takes place within specialized intracellular organelles named melanosomes. Melanin-containing melanosomes then move from the perinuclear region to the dendrite tips and are transferred to keratinocytes by a still not well-characterized mechanism. More...

Genes shared at least 5 GO terms with GNAO1 (count: 6)

Gene Symbol	Pathway Count	Pathway List
GNAZ	11	extrinsic to internal side of plasma membrane; G-protein beta/gamma-subunit complex binding; GTP binding; heterotrimeric G-protein complex; GTPase activity; signal transducer activity; adenylate cyclase-modulating G-protein coupled receptor signaling pathway; plasma membrane; GTP catabolic process; metal ion binding; G-protein coupled serotonin receptor binding;
GNAT2	10	extrinsic to internal side of plasma membrane; G-protein beta/gamma-subunit complex binding; GTP binding; heterotrimeric G-protein complex; GTPase activity; signal transducer activity; adenylate cyclase-modulating G-protein coupled receptor signaling pathway; plasma membrane; GTP catabolic process; metal ion binding;
GNAL	9	extrinsic to internal side of plasma membrane; G-protein beta/gamma-subunit complex binding; GTP binding; heterotrimeric G-protein complex; GTPase activity; signal transducer activity; plasma membrane; GTP catabolic process; metal ion binding;
CRYAB	5	aging; muscle contraction; plasma membrane; metal ion binding; response to hydrogen peroxide;
GNG10	5	heterotrimeric G-protein complex; GTPase activity; signal transducer activity; plasma membrane; GTP catabolic process;
GNG3	5	heterotrimeric G-protein complex; GTPase activity; signal transducer activity; plasma membrane; GTP catabolic process;

Genes shared at least 2 KEGG pathways with GNAO1 (count: 28)

Gene Symbol	Pathway Count	Pathway List
MAPK1	5	Long-term depression; Toxoplasmosis; Glutamatergic synapse; Chagas disease (American trypanosomiasis); Melanogenesis;
MAPK3	5	Long-term depression; Toxoplasmosis; Glutamatergic synapse; Chagas disease (American trypanosomiasis); Melanogenesis;
PLCB2	4	Long-term depression; Glutamatergic synapse; Chagas disease (American trypanosomiasis); Melanogenesis;
PLCB3	4	Long-term depression; Glutamatergic synapse; Chagas disease (American trypanosomiasis); Melanogenesis;
PLA2G10	3	Long-term depression; Toxoplasmosis; Glutamatergic synapse;
PLA2G1B	3	Long-term depression; Toxoplasmosis; Glutamatergic synapse;
PLA2G2A	3	Long-term depression; Toxoplasmosis; Glutamatergic synapse;
PLA2G2D	3	Long-term depression; Toxoplasmosis; Glutamatergic synapse;
PLA2G2E	3	Long-term depression; Toxoplasmosis; Glutamatergic synapse;
PLA2G3	3	Long-term depression; Toxoplasmosis; Glutamatergic synapse;
PLA2G4B	3	Long-term depression; Toxoplasmosis; Glutamatergic synapse;
PLA2G5	3	Long-term depression; Toxoplasmosis; Glutamatergic synapse;
PLA2G6	3	Long-term depression; Toxoplasmosis; Glutamatergic synapse;
PRKCB	3	Long-term depression; Glutamatergic synapse; Melanogenesis;
CACNA1A	2	Long-term depression; Glutamatergic synapse;
GRM1	2	Long-term depression; Glutamatergic synapse;
GRM5	2	Long-term depression; Glutamatergic synapse;
ITPR1	2	Long-term depression; Glutamatergic synapse;
ITPR2	2	Long-term depression; Glutamatergic synapse;
PPP2R1B	2	Long-term depression; Chagas disease (American trypanosomiasis);
IFNGR1	2	Toxoplasmosis; Chagas disease (American trypanosomiasis);
IL12B	2	Toxoplasmosis; Chagas disease (American trypanosomiasis);
MAPK9	2	Toxoplasmosis; Chagas disease (American trypanosomiasis);
PIK3CG	2	Toxoplasmosis; Chagas disease (American trypanosomiasis);
PIK3R1	2	Toxoplasmosis; Chagas disease (American trypanosomiasis);
RELA	2	Toxoplasmosis; Chagas disease (American trypanosomiasis);
TLR4	2	Toxoplasmosis; Chagas disease (American trypanosomiasis);
ADCY4	2	Glutamatergic synapse; Melanogenesis;

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Region: chr16:56225251..56391356 View in gBrowse