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	GNAL
Approved Name	guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type
Location	18p11.22-p11.21
Position	chr18:11689136-11885684, +
External Links	HGNC: 4388 Entrez Gene: 2774 Ensembl: ENSG00000141404 UCSC: uc002kqc.2
No. of Studies	1 (significant: 1; non-significant: 0; trend: 0)
Source	Literature-origin; Mapped by LD-proxy; Mapped by literature SNP

Gene related studies (count: 1)

Reference	Statistical Values/Author Comments	Result of Statistical Analysis
Laurin N, 2008(b)	2 SNPs showed evidence of association with ADHD; a possible contribution of GNAL in the susceptibility to ADHD	Significant

Gene related SNPs (count: 89)

Literature-origin SNPs (count: 12)

rs_ID	Location	Functional Annotation	No. of Studies (significant/non-significant/trend)
rs1005270	Chr18:11750822(Fwd)	downstream_gene_variant; intron_variant; upstream_gene_variant	1(0/1/0)
rs1786581	Chr18:11852182(Fwd)	3_prime_UTR_variant; intron_variant; nc_transcript_variant; upstream_gene_variant	1(0/1/0)
rs9962277	Chr18:11799182(Fwd)	intron_variant; nc_transcript_variant	1(0/1/0)
rs2161961	Chr18:11774500(Fwd)	intron_variant; nc_transcript_variant	1(1/0/0)
rs2052661	Chr18:11763020(Fwd)	intron_variant; nc_transcript_variant	1(0/1/0)
rs787558	Chr18:11865878(Fwd)	intron_variant; nc_transcript_variant	1(0/1/0)
rs787554	Chr18:11862697(Fwd)	intron_variant; nc_transcript_variant	1(0/1/0)
rs2276134	Chr18:11833861(Fwd)	downstream_gene_variant; intron_variant	1(0/1/0)
rs8098539	Chr18:11775386(Fwd)	intron_variant; nc_transcript_variant	1(1/0/0)
rs8095592	Chr18:11753716(Fwd)	intron_variant; nc_transcript_variant	1(0/1/0)
rs8087266	Chr18:11688979(Fwd)	5_prime_UTR_variant; upstream_gene_variant	1(0/1/0)
rs3892113	Chr18:11876613(Fwd)	downstream_gene_variant; intron_variant; nc_transcript_variant; splice_region_variant	1(0/1/0)

LD-proxies (count: 77)

rs_ID	Location	Functional Annotation
rs16976642	Chr18:11761127(Fwd)	intron_variant; nc_transcript_variant
rs8090320	Chr18:11761090(Fwd)	intron_variant; nc_transcript_variant
rs9951752	Chr18:11748216(Fwd)	downstream_gene_variant; intron_variant; upstream_gene_variant
rs7359728	Chr18:11746605(Fwd)	intron_variant; nc_transcript_variant; upstream_gene_variant
rs8087789	Chr18:11760915(Fwd)	intron_variant; nc_transcript_variant
rs16976632	Chr18:11748525(Fwd)	downstream_gene_variant; intron_variant; upstream_gene_variant
rs8099153	Chr18:11775522(Fwd)	intron_variant; nc_transcript_variant
rs2586214	Chr18:11866283(Fwd)	intron_variant; nc_transcript_variant
rs16976628	Chr18:11746708(Fwd)	intron_variant; nc_transcript_variant; non_coding_exon_variant; upstream_gene_variant
rs2848455	Chr18:11866094(Fwd)	intron_variant; nc_transcript_variant
rs11872939	Chr18:11782521(Fwd)	intron_variant; nc_transcript_variant
rs2848463	Chr18:11870015(Fwd)	downstream_gene_variant; intron_variant; nc_transcript_variant; upstream_gene_variant
rs1477484	Chr18:11781076(Fwd)	intron_variant; nc_transcript_variant
rs2855646	Chr18:11867297(Fwd)	intron_variant; nc_transcript_variant
rs8087897	Chr18:11697824(Fwd)	intron_variant; nc_transcript_variant
rs2071138	Chr18:11872142(Fwd)	downstream_gene_variant; intron_variant; nc_transcript_variant; upstream_gene_variant
rs16976596	Chr18:11696613(Fwd)	intron_variant; nc_transcript_variant
rs2848465	Chr18:11871030(Fwd)	downstream_gene_variant; intron_variant; nc_transcript_variant; upstream_gene_variant
rs9303743	Chr18:11712839(Fwd)	intron_variant
rs2855639	Chr18:11872174(Fwd)	downstream_gene_variant; intron_variant; nc_transcript_variant; upstream_gene_variant
rs1013459	Chr18:11700534(Fwd)	intron_variant; nc_transcript_variant
rs2071139	Chr18:11872154(Fwd)	downstream_gene_variant; intron_variant; nc_transcript_variant; upstream_gene_variant
rs8096345	Chr18:11695992(Fwd)	intron_variant; nc_transcript_variant
rs2586211	Chr18:11872825(Fwd)	downstream_gene_variant; intron_variant; nc_transcript_variant
rs1863122	Chr18:11694882(Fwd)	intron_variant; nc_transcript_variant
rs2071140	Chr18:11872516(Fwd)	downstream_gene_variant; intron_variant; nc_transcript_variant
rs8099179	Chr18:11696168(Fwd)	intron_variant; nc_transcript_variant
rs2848454	Chr18:11866481(Fwd)	intron_variant; nc_transcript_variant
rs8099016	Chr18:11696064(Fwd)	intron_variant; nc_transcript_variant
rs787559	Chr18:11866016(Fwd)	intron_variant; nc_transcript_variant
rs1786563	Chr18:11825226(Fwd)	intron_variant; nc_transcript_variant
rs1647553	Chr18:11823394(Fwd)	intron_variant; nc_transcript_variant
rs11080534	Chr18:11779857(Fwd)	intron_variant; nc_transcript_variant
rs12327266	Chr18:11783304(Fwd)	intron_variant; nc_transcript_variant
rs9303746	Chr18:11777420(Fwd)	intron_variant; nc_transcript_variant
rs9948889	Chr18:11777968(Fwd)	intron_variant; nc_transcript_variant
rs9303748	Chr18:11800407(Fwd)	intron_variant; nc_transcript_variant
rs10048315	Chr18:11802302(Fwd)	intron_variant; nc_transcript_variant
rs8086766	Chr18:11785174(Fwd)	intron_variant; nc_transcript_variant
rs1477481	Chr18:11788446(Fwd)	intron_variant; nc_transcript_variant
rs1786568	Chr18:11821000(Fwd)	intron_variant; nc_transcript_variant
rs8094039	Chr18:11765356(Fwd)	intron_variant; nc_transcript_variant
rs10048316	Chr18:11802504(Fwd)	intron_variant; nc_transcript_variant
rs7240684	Chr18:11811745(Fwd)	intron_variant; nc_transcript_variant; upstream_gene_variant
rs2859542	Chr18:11865892(Fwd)	intron_variant; nc_transcript_variant
rs2113739	Chr18:11761954(Fwd)	intron_variant; nc_transcript_variant
rs8091359	Chr18:11761023(Fwd)	intron_variant; nc_transcript_variant
rs2052660	Chr18:11763228(Fwd)	intron_variant; nc_transcript_variant
rs2113738	Chr18:11761980(Fwd)	intron_variant; nc_transcript_variant
rs17515304	Chr18:11695376(Fwd)	intron_variant; nc_transcript_variant
rs1895689	Chr18:11752943(Fwd)	intron_variant; nc_transcript_variant; upstream_gene_variant
rs17515325	Chr18:11695551(Fwd)	intron_variant; nc_transcript_variant
rs7240632	Chr18:11811601(Fwd)	intron_variant; nc_transcript_variant; upstream_gene_variant
rs9676233	Chr18:11788534(Fwd)	intron_variant; nc_transcript_variant
rs8090628	Chr18:11761352(Fwd)	intron_variant; nc_transcript_variant
rs9946455	Chr18:11873358(Fwd)	downstream_gene_variant; intron_variant; nc_transcript_variant
rs2866279	Chr18:11757400(Fwd)	intron_variant; nc_transcript_variant
rs9947295	Chr18:11759432(Fwd)	intron_variant; nc_transcript_variant
rs4239300	Chr18:11732957(Fwd)	intron_variant
rs4625786	Chr18:11730979(Fwd)	intron_variant
rs9303749	Chr18:11802991(Fwd)	intron_variant; nc_transcript_variant
rs10468681	Chr18:11800066(Fwd)	intron_variant; nc_transcript_variant
rs1364632	Chr18:11812228(Fwd)	intron_variant; nc_transcript_variant; upstream_gene_variant
rs16976671	Chr18:11805367(Fwd)	intron_variant; nc_transcript_variant
rs12965256	Chr18:11815133(Fwd)	intron_variant; nc_transcript_variant; upstream_gene_variant
rs12965108	Chr18:11815051(Fwd)	intron_variant; nc_transcript_variant; upstream_gene_variant
rs1786567	Chr18:11823882(Fwd)	intron_variant; nc_transcript_variant
rs12962767	Chr18:11818310(Fwd)	intron_variant; nc_transcript_variant
rs1786566	Chr18:11824358(Fwd)	intron_variant; nc_transcript_variant
rs1614379	Chr18:11824182(Fwd)	intron_variant; nc_transcript_variant
rs1786564	Chr18:11825212(Fwd)	intron_variant; nc_transcript_variant
rs1647556	Chr18:11824880(Fwd)	intron_variant; nc_transcript_variant
rs9962623	Chr18:11827102(Fwd)	intron_variant; nc_transcript_variant
rs16976627	Chr18:11746664(Fwd)	intron_variant; nc_transcript_variant; splice_region_variant; upstream_gene_variant
rs1647558	Chr18:11825317(Fwd)	intron_variant; nc_transcript_variant
rs9966733	Chr18:11828828(Fwd)	intron_variant; nc_transcript_variant
rs9962908	Chr18:11827239(Fwd)	intron_variant; nc_transcript_variant

Gene related CNVs (count: 0)

Gene related other variant (count: 0)

Gene related regions (count: 0)

Gene related GO terms (count: 19)

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

GO terms by database search (count: 19)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0001664	G-protein coupled receptor binding	Molecular Function		8
GO:0003924	GTPase activity	Molecular Function	TAS[8243272]	41
GO:0001975	response to amphetamine	Biological Process		16
GO:0006184	GTP catabolic process	Biological Process	TAS[8243272]	22
GO:0007165	signal transduction	Biological Process	TAS[8243272]	171
GO:0007189	adenylate cyclase-activating G-protein coupled receptor signaling pathway	Biological Process		8
GO:0007190	activation of adenylate cyclase activity	Biological Process		9
GO:0004871	signal transducer activity	Molecular Function		49
GO:0005525	GTP binding	Molecular Function		53
GO:0005834	heterotrimeric G-protein complex	Cellular Component		7
GO:0005886	plasma membrane	Cellular Component		772
GO:0031000	response to caffeine	Biological Process		6
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:0046872	metal ion binding	Molecular Function		170
GO:0007191	adenylate cyclase-activating dopamine receptor signaling pathway	Biological Process		5
GO:0007193	adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway	Biological Process		6
GO:0007268	synaptic transmission	Biological Process		96
GO:0007608	sensory perception of smell	Biological Process		19

Gene related KEGG pathways (count: 4)

ID	Name	No. of Genes in ADHDgene	Brief Description
hsa04020	Calcium signaling pathway	63	Ca2+ that enters the cell from the outside is a principal so...... Ca2+ that enters the cell from the outside is a principal source of signal Ca2+. Entry of Ca2+ is driven by the presence of a large electrochemical gradient across the plasma membrane. Cells use this external source of signal Ca2+ by activating various entry channels with widely different properties. The voltage-operated channels (VOCs) are found in excitable cells and generate the rapid Ca2+ fluxes that control fast cellular processes. There are many other Ca2+-entry channels, such as the receptor-operated channels (ROCs), for example the NMDA (N-methyl-D-aspartate) receptors (NMDARs) that respond to glutamate. There also are second-messenger-operated channels (SMOCs) and store-operated channels (SOCs). More...
hsa04740	Olfactory transduction	173	Within the compact cilia of the olfactory receptor neurons (...... Within the compact cilia of the olfactory receptor neurons (ORNs) a cascade of enzymatic activity transduces the binding of an odorant molecule to a receptor into an electrical signal that can be transmitted to the brain. Odorant molecules bind to a receptor protein (R) coupled to an olfactory specific Gs-protein (G) and activate a type III adenylyl cyclase (AC), increasing intracellular cAMP levels. cAMP targets an olfactory-specific cyclic-nucleotide gated ion channel (CNG), allowing cations, particularly Na and Ca, to flow down their electrochemical gradients into the cell, depolarizing the ORN. Furthermore, the Ca entering the cell is able to activate a Ca-activated Cl channel, which would allow Cl to flow out of the cell, thus further increasing the depolarization. Elevated intracellular Ca causes adaptation by at least two different molecular steps: inhibition of the activity of adenylyl cyclase via CAMKII-dependent phosphorylation and down-regulation of the affinity of the CNG channel to cAMP.Longer exposure to odorants can stimulate particulate guanylyl cyclase in cilia to produce cGMP and activate PKG, leading to a further increase in amount and duration of intracellular cAMP levels, which may serve to convert inactive forms of protein kinase A (PKA2) to active forms (PKA*). As part of a feedback loop, PKA can inhibit the activation of particulate guanylyl cyclase. More...
hsa05146	Amoebiasis	19	Entamoeba histolytica, an extracellular protozoan parasite i...... Entamoeba histolytica, an extracellular protozoan parasite is a human pathogen that invades the intestinal epithelium. Infection occurs on ingestion of contaminated water and food. The pathogenesis of amoebiasis begins with parasite attachment and disruption of the intestinal mucus layer, followed by apoptosis of host epithelial cells. Intestinal tissue destruction causes severe dysentery and ulcerations in amoebic colitis. Several amoebic proteins such as lectins, cysteine proteineases, and amoebapores are associated with the invasion process. The parasite can cause extraintestinal infection like amoebic liver abscess by evading immune response. 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...

Genes shared at least 5 GO terms with GNAL (count: 10)

Gene Symbol	Pathway Count	Pathway List
GNAT2	10	G-protein coupled receptor binding; GTPase activity; GTP catabolic process; signal transducer activity; GTP binding; heterotrimeric G-protein complex; plasma membrane; extrinsic to internal side of plasma membrane; G-protein beta/gamma-subunit complex binding; metal ion binding;
GNAZ	10	GTPase activity; GTP catabolic process; signal transducer activity; GTP binding; heterotrimeric G-protein complex; plasma membrane; extrinsic to internal side of plasma membrane; G-protein beta/gamma-subunit complex binding; metal ion binding; adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway;
GNAO1	9	GTPase activity; GTP catabolic process; signal transducer activity; GTP binding; heterotrimeric G-protein complex; plasma membrane; extrinsic to internal side of plasma membrane; G-protein beta/gamma-subunit complex binding; metal ion binding;
GNG10	7	GTPase activity; GTP catabolic process; signal transduction; signal transducer activity; heterotrimeric G-protein complex; plasma membrane; synaptic transmission;
GNG3	6	GTPase activity; GTP catabolic process; signal transducer activity; heterotrimeric G-protein complex; plasma membrane; synaptic transmission;
DRD5	6	response to amphetamine; adenylate cyclase-activating G-protein coupled receptor signaling pathway; activation of adenylate cyclase activity; plasma membrane; adenylate cyclase-activating dopamine receptor signaling pathway; synaptic transmission;
ADCY4	6	signal transduction; adenylate cyclase-activating G-protein coupled receptor signaling pathway; plasma membrane; metal ion binding; adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway; synaptic transmission;
RIT2	5	GTPase activity; signal transduction; GTP binding; plasma membrane; synaptic transmission;
ADORA2A	5	response to amphetamine; adenylate cyclase-activating G-protein coupled receptor signaling pathway; activation of adenylate cyclase activity; plasma membrane; response to caffeine;
DRD1	5	response to amphetamine; adenylate cyclase-activating G-protein coupled receptor signaling pathway; activation of adenylate cyclase activity; plasma membrane; adenylate cyclase-activating dopamine receptor signaling pathway;

Genes shared at least 2 KEGG pathways with GNAL (count: 11)

Gene Symbol	Pathway Count	Pathway List
PLCB2	3	Calcium signaling pathway; Amoebiasis; Chagas disease (American trypanosomiasis);
PLCB3	3	Calcium signaling pathway; Amoebiasis; Chagas disease (American trypanosomiasis);
BDKRB2	2	Calcium signaling pathway; Chagas disease (American trypanosomiasis);
CAMK2D	2	Calcium signaling pathway; Olfactory transduction;
PRKCB	2	Calcium signaling pathway; Amoebiasis;
IL12B	2	Amoebiasis; Chagas disease (American trypanosomiasis);
IL6	2	Amoebiasis; Chagas disease (American trypanosomiasis);
PIK3CG	2	Amoebiasis; Chagas disease (American trypanosomiasis);
PIK3R1	2	Amoebiasis; Chagas disease (American trypanosomiasis);
RELA	2	Amoebiasis; Chagas disease (American trypanosomiasis);
TLR4	2	Amoebiasis; Chagas disease (American trypanosomiasis);

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Region: chr18:11689136..11885684 View in gBrowse