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	CHRNA4
Previous Symbol	EBN, EBN1
Symbol Alias	BFNC
Approved Name	cholinergic receptor, nicotinic, alpha 4
Previous Name	cholinergic receptor, nicotinic, alpha polypeptide 4
Location	20
Position	chr20:61974665-62009753, -
External Links	HGNC: 1958 Entrez Gene: 1137 Ensembl: ENSG00000101204 UCSC: uc002yes.2
No. of Studies	7 (significant: 4; non-significant: 3; trend: 0)
Source	Literature-origin; Mapped by LD-proxy; Mapped by literature SNP

Gene related studies (count: 7)

Reference	Statistical Values/Author Comments	Result of Statistical Analysis
Todd RD, 2003	haplotype CGA corrected P-value=0.022 in latent-class-defined inattentive ADHD; haplotype of Amplicon 2 ETDT P-value=0.016, X²(2df)=8.30 in latent-class-defined inattentive ADHD, ETDT P-value=0.011, X²(2df)=9.12 in DSM-IV any ADHD, ETDT P-value=0.011, X²(2df)=8.96 in DSM-IV inattentive; haplotype of combined ETDT P-value=0.018, X²(14df)=27.3 in latent-class-defined inattentive ADHD, ETDT P-value=0.035, X²(17df)=29 in DSM-IV any ADHD, ETDT P-value=0.027, X²(12df)=23.1 in DSM-IV inattentive	Significant
Kent L, 2001(b)	this study did not support an association between the nicotinic acetylcholine alpha 4 receptor Cfo1 polymorphism and ADHD	Non-significant
Gizer IR, 2009	The present review suggests a possible association between childhood ADHD and CHRNA4.	Non-significant
Brookes K, 2006	UNPHASED TDT P-value=0.0496, global P-value=0.503, WHAP TDT P_sum P-value=0.593; OR=1.32, one or more SNPs with nominal P-value<0.05 located in this gene	Significant
Bobb AJ, 2005	no polymorphism was associated with ADHD	Non-significant
Guan L, 2009	haplotype association analysis: Nominal P-value=0.037, Empirical P-value=0.224 for ADHD-I. 2 SNPs in this gene achieved significance for ADHD-I, and haplotype association test also achieved significance for ADHD-I.	Significant
Lee J, 2008	haplotype GAGC P-value=0.041, X² =4.161 for all subtypes, P-value=0.004, X² =8.375 in combined subtype; P-value=0.022 in FBAT analysis for hyperactive/impulsive symptoms; CHRNA4 may be involved in ADHD	Significant

Gene related SNPs (count: 8)

Literature-origin SNPs (count: 7)

rs_ID	Location	Functional Annotation	No. of Studies (significant/non-significant/trend)
rs7267923	Chr20:61996901(Fwd)	intron_variant; nc_transcript_variant; upstream_gene_variant	1(1/0/0)
rs2273505	Chr20:61990878(Fwd)	NMD_transcript_variant; intron_variant; nc_transcript_variant; upstream_gene_variant	2(1/1/0)
rs3818204	Chr20:61991141(Fwd)	intron_variant; nc_transcript_variant; upstream_gene_variant	1(1/0/0)
rs2273506	Chr20:61990939(Fwd)	NMD_transcript_variant; intron_variant; nc_transcript_variant; non_coding_exon_variant; synonymous_variant; upstream_gene_variant	3(0/3/0)
rs3787141	Chr20:61989394(Fwd)	NMD_transcript_variant; intron_variant; nc_transcript_variant; upstream_gene_variant	1(1/0/0)
rs755203	Chr20:61994264(Fwd)	intron_variant; nc_transcript_variant; upstream_gene_variant	2(1/1/0)
rs6090384	Chr20:61990874(Fwd)	NMD_transcript_variant; intron_variant; nc_transcript_variant; upstream_gene_variant	4(0/4/0)

LD-proxies (count: 1)

rs_ID	Location	Functional Annotation
rs1044396	Chr20:61981134(Fwd)	3_prime_UTR_variant; NMD_transcript_variant; nc_transcript_variant; non_coding_exon_variant; synonymous_variant

Gene related CNVs (count: 0)

Gene related other variant (count: 4)

Variant Name	Variant Type	Location in Gene	No. of Studies (significant/non-significant/trend)
CHRNA4_exon2_211A/G	point mutation	exon 2	1 (1/0/0)
CHRNA4_exon2_150C/T	point mutation	exon 2	1 (1/0/0)
CHRNA4_exon5_T/C_CfoI	point mutation	exon 5	1 (0/1/0)
CHRNA4_exon2_215A/G	point mutation	exon 2	1 (1/0/0)

Gene related regions (count: 0)

Gene related GO terms (count: 33)

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

GO terms by database search (count: 33)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0004889	acetylcholine-activated cation-selective channel activity	Molecular Function	IDA[8906617]	5
GO:0001666	response to hypoxia	Biological Process	IDA[12189247]	34
GO:0001508	regulation of action potential	Biological Process		2
GO:0006811	ion transport	Biological Process	NAS[8906617]	25
GO:0006281	DNA repair	Biological Process	IMP[16332175]	62
GO:0005892	acetylcholine-gated channel complex	Cellular Component	IDA[8906617]	5
GO:0005886	plasma membrane	Cellular Component		772
GO:0042113	B cell activation	Biological Process		5
GO:0035095	behavioral response to nicotine	Biological Process	IMP[17955458]	4
GO:0042391	regulation of membrane potential	Biological Process		9
GO:0042166	acetylcholine binding	Molecular Function	IC[8906617]	5
GO:0045211	postsynaptic membrane	Cellular Component		41
GO:0043025	neuronal cell body	Cellular Component		51
GO:0050890	cognition	Biological Process	IMP[14623738]	6
GO:0050877	neurological system process	Biological Process	IMP[17613539]	1
GO:0060080	regulation of inhibitory postsynaptic membrane potential	Biological Process		5
GO:0051899	membrane depolarization	Biological Process		9
GO:0006816	calcium ion transport	Biological Process		32
GO:0006979	response to oxidative stress	Biological Process	IMP[16332175]	17
GO:0007165	signal transduction	Biological Process	IDA[8906617]	171
GO:0007268	synaptic transmission	Biological Process	NAS[7550350]	96
GO:0007271	synaptic transmission, cholinergic	Biological Process		8
GO:0007626	locomotory behavior	Biological Process		24
GO:0009897	external side of plasma membrane	Cellular Component		34
GO:0014059	regulation of dopamine secretion	Biological Process		6
GO:0015276	ligand-gated ion channel activity	Molecular Function		4
GO:0015464	acetylcholine receptor activity	Molecular Function	IDA[8906617]	5
GO:0016020	membrane	Cellular Component		139
GO:0016021	integral to membrane	Cellular Component	NAS[8906617]	845
GO:0019233	sensory perception of pain	Biological Process		17
GO:0030054	cell junction	Cellular Component		77
GO:0030425	dendrite	Cellular Component		46
GO:0035094	response to nicotine	Biological Process	IDA[12189247]	6

Gene related KEGG pathways (count: 1)

ID	Name	No. of Genes in ADHDgene	Brief Description
hsa04080	Neuroactive ligand-receptor interaction	93

Genes shared at least 5 GO terms with CHRNA4 (count: 31)

Gene Symbol	Pathway Count	Pathway List
CHRNA3	18	acetylcholine-activated cation-selective channel activity; ion transport; acetylcholine-gated channel complex; plasma membrane; behavioral response to nicotine; regulation of membrane potential; acetylcholine binding; postsynaptic membrane; neuronal cell body; signal transduction; synaptic transmission; synaptic transmission, cholinergic; locomotory behavior; ligand-gated ion channel activity; acetylcholine receptor activity; integral to membrane; cell junction; dendrite;
CHRNA7	15	acetylcholine-activated cation-selective channel activity; response to hypoxia; ion transport; acetylcholine-gated channel complex; plasma membrane; acetylcholine binding; postsynaptic membrane; cognition; calcium ion transport; signal transduction; synaptic transmission; acetylcholine receptor activity; integral to membrane; cell junction; response to nicotine;
CHRNB4	15	acetylcholine-activated cation-selective channel activity; regulation of action potential; ion transport; acetylcholine-gated channel complex; plasma membrane; behavioral response to nicotine; postsynaptic membrane; signal transduction; synaptic transmission; synaptic transmission, cholinergic; locomotory behavior; ligand-gated ion channel activity; acetylcholine receptor activity; integral to membrane; cell junction;
CHRNA5	10	acetylcholine-activated cation-selective channel activity; acetylcholine-gated channel complex; plasma membrane; behavioral response to nicotine; postsynaptic membrane; signal transduction; synaptic transmission; ligand-gated ion channel activity; acetylcholine receptor activity; cell junction;
ACHE	8	plasma membrane; acetylcholine binding; postsynaptic membrane; synaptic transmission; synaptic transmission, cholinergic; membrane; cell junction; dendrite;
ADORA2A	7	plasma membrane; postsynaptic membrane; neuronal cell body; regulation of inhibitory postsynaptic membrane potential; synaptic transmission, cholinergic; locomotory behavior; membrane;
DRD2	6	response to hypoxia; plasma membrane; locomotory behavior; regulation of dopamine secretion; dendrite; response to nicotine;
SLC1A3	6	ion transport; plasma membrane; neuronal cell body; synaptic transmission; membrane; integral to membrane;
ADCY4	6	plasma membrane; signal transduction; synaptic transmission; membrane; integral to membrane; dendrite;
CHRM3	6	plasma membrane; acetylcholine binding; postsynaptic membrane; signal transduction; cell junction; dendrite;
GABRA5	6	plasma membrane; postsynaptic membrane; signal transduction; synaptic transmission; cell junction; dendrite;
GRIK1	6	plasma membrane; postsynaptic membrane; regulation of inhibitory postsynaptic membrane potential; synaptic transmission; cell junction; dendrite;
SLC6A3	6	plasma membrane; neuronal cell body; synaptic transmission; locomotory behavior; integral to membrane; response to nicotine;
GRIN3A	6	postsynaptic membrane; neuronal cell body; calcium ion transport; membrane; integral to membrane; cell junction;
EDNRA	5	response to hypoxia; plasma membrane; signal transduction; membrane; sensory perception of pain;
CACNA1E	5	plasma membrane; membrane depolarization; synaptic transmission; locomotory behavior; sensory perception of pain;
CHL1	5	plasma membrane; cognition; signal transduction; integral to membrane; dendrite;
CHRM1	5	plasma membrane; postsynaptic membrane; signal transduction; membrane; cell junction;
DLG2	5	plasma membrane; postsynaptic membrane; synaptic transmission; sensory perception of pain; cell junction;
GABRB3	5	plasma membrane; postsynaptic membrane; signal transduction; synaptic transmission; cell junction;
GABRG3	5	plasma membrane; postsynaptic membrane; synaptic transmission; integral to membrane; cell junction;
GRIA4	5	plasma membrane; postsynaptic membrane; synaptic transmission; cell junction; dendrite;
GRIN2A	5	plasma membrane; postsynaptic membrane; synaptic transmission; sensory perception of pain; cell junction;
GRM7	5	plasma membrane; postsynaptic membrane; synaptic transmission; integral to membrane; dendrite;
HTR3A	5	plasma membrane; postsynaptic membrane; synaptic transmission; integral to membrane; cell junction;
KCNIP1	5	plasma membrane; neuronal cell body; signal transduction; synaptic transmission; dendrite;
PRKCB	5	plasma membrane; B cell activation; calcium ion transport; signal transduction; synaptic transmission;
RAPSN	5	plasma membrane; postsynaptic membrane; synaptic transmission; synaptic transmission, cholinergic; cell junction;
SLC18A2	5	plasma membrane; neuronal cell body; synaptic transmission; locomotory behavior; membrane;
SLC5A7	5	plasma membrane; neuronal cell body; synaptic transmission; synaptic transmission, cholinergic; integral to membrane;
CNTNAP2	5	neuronal cell body; signal transduction; membrane; integral to membrane; dendrite;

Genes shared at least 2 KEGG pathways with CHRNA4 (count: 0)

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Region: chr20:61974665..62009753 View in gBrowse