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	GNAT2
Symbol Alias	ACHM4
Approved Name	guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2
Location	1p13
Position	chr1:110145889-110155705, -
External Links	HGNC: 4394 Entrez Gene: 2780 Ensembl: ENSG00000134183 UCSC: uc001dya.2
No. of Studies	1 (significant: 1; non-significant: 0; trend: 0)
Source	Literature-origin

Gene related studies (count: 1)

Reference	Statistical Values/Author Comments	Result of Statistical Analysis
Turic D, 2004 (b)	6 sequence variants were found in this gene, only one of them (-32A>G, synonymous change) achieved suggestive evidence for association.	Significant

Gene related SNPs (count: 0)

Gene related CNVs (count: 0)

Gene related other variant (count: 6)

Variant Name	Variant Type	No. of Studies (significant/non-significant/trend)
GNAT2_G(V)370A(M)	point mutation	1 (0/1/0)
GNAT2_T(N)933C(N)	point mutation	1 (0/1/0)
GNAT2_G(T)546A(T)	point mutation	1 (0/1/0)
GNAT2_C(L)319A(I)	point mutation	1 (0/1/0)
GNAT2_-32A>G	point mutation	1 (1/0/0)
GNAT2_1259_1282del	insertion/deletion	1 (0/1/0)

Gene related regions (count: 0)

Gene related GO terms (count: 23)

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

GO terms by database search (count: 23)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0007601	visual perception	Biological Process	NAS[2534964]	30
GO:0007602	phototransduction	Biological Process	NAS[2534964]	6
GO:0008020	G-protein coupled photoreceptor activity	Molecular Function	NAS[2534964]	1
GO:0009642	response to light intensity	Biological Process		1
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:0042622	photoreceptor outer segment membrane	Cellular Component		3
GO:0046549	retinal cone cell development	Biological Process		4
GO:0004871	signal transducer activity	Molecular Function		49
GO:0005525	GTP binding	Molecular Function	NAS[1936270]	53
GO:0005834	heterotrimeric G-protein complex	Cellular Component	NAS[1936270]	7
GO:0005886	plasma membrane	Cellular Component		772
GO:0006184	GTP catabolic process	Biological Process		22
GO:0007186	G-protein coupled receptor signaling pathway	Biological Process	NAS[2534964]	72
GO:0007188	adenylate cyclase-modulating G-protein coupled receptor signaling pathway	Biological Process		13
GO:0007204	elevation of cytosolic calcium ion concentration	Biological Process		20
GO:0001580	detection of chemical stimulus involved in sensory perception of bitter taste	Biological Process		1
GO:0003924	GTPase activity	Molecular Function		41
GO:0001917	photoreceptor inner segment	Cellular Component	IDA[2534964]	5
GO:0001750	photoreceptor outer segment	Cellular Component	IDA[2534964]	8
GO:0001664	G-protein coupled receptor binding	Molecular Function		8
GO:0050908	detection of light stimulus involved in visual perception	Biological Process	IMP[12077706]	4
GO:0046872	metal ion binding	Molecular Function		170

Gene related KEGG pathways (count: 1)

ID	Name	No. of Genes in ADHDgene	Brief Description
hsa04744	Phototransduction	3	Phototransduction is a biochemical process by which the phot...... Phototransduction is a biochemical process by which the photoreceptor cells generate electrical signals in response to captured photons. The vertebrate cascade starts with the absorption of photons by the photoreceptive pigments, the rhodopsins, which consist of a membrane embedded chromophore, 11-cis-retinal, and a G-protein-coupled receptor, opsin. The photon isomerizes 11-cis-retinal to all-trans-retinal which induces a structural change that activates the opsin. This triggers hydrolysis of cGMP by activating a transducinphosphodiesterase 6 (PDE6) cascade, which results in closure of the cGMP-gated cation channels (CNG) in the plasma membrane and membrane hyperpolarization. The hyperpolarization of the membrane potential of the photoreceptor cell modulates the release of neurotransmitters to downstream cells. Recovery from light involves the deactivation of the light- activated intermediates: photolyzed rhodopsin is phosphorylated by rhodopsin kinase (RK) and subsequently capped off by arrestin; GTP-binding transducin alpha subunit deactivates through a process that is stimulated by RGS9. More...

Genes shared at least 5 GO terms with GNAT2 (count: 5)

Gene Symbol	Pathway Count	Pathway List
GNAZ	11	extrinsic to internal side of plasma membrane; G-protein beta/gamma-subunit complex binding; signal transducer activity; GTP binding; heterotrimeric G-protein complex; plasma membrane; GTP catabolic process; G-protein coupled receptor signaling pathway; adenylate cyclase-modulating G-protein coupled receptor signaling pathway; GTPase activity; metal ion binding;
GNAL	10	extrinsic to internal side of plasma membrane; G-protein beta/gamma-subunit complex binding; signal transducer activity; GTP binding; heterotrimeric G-protein complex; plasma membrane; GTP catabolic process; GTPase activity; G-protein coupled receptor binding; metal ion binding;
GNAO1	10	extrinsic to internal side of plasma membrane; G-protein beta/gamma-subunit complex binding; signal transducer activity; GTP binding; heterotrimeric G-protein complex; plasma membrane; GTP catabolic process; adenylate cyclase-modulating G-protein coupled receptor signaling pathway; GTPase activity; metal ion binding;
GNG10	6	signal transducer activity; heterotrimeric G-protein complex; plasma membrane; GTP catabolic process; G-protein coupled receptor signaling pathway; GTPase activity;
GNG3	6	signal transducer activity; heterotrimeric G-protein complex; plasma membrane; GTP catabolic process; G-protein coupled receptor signaling pathway; GTPase activity;

Genes shared at least 2 KEGG pathways with GNAT2 (count: 0)

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Region: chr1:110145889..110155705 View in gBrowse