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	CHRNA3
Approved Name	cholinergic receptor, nicotinic, alpha 3
Previous Name	cholinergic receptor, nicotinic, alpha polypeptide 3
Location	15q24
Position	chr15:78885394-78913637, -
External Links	HGNC: 1957 Entrez Gene: 1136 Ensembl: ENSG00000080644 UCSC: uc002bec.2
No. of Studies	1 (significant: 0; non-significant: 1; 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
Thakur G. A., 2012	SNP rs1051730 mapped to this gene showed no significant association with ADHD in this study.	Non-significant

Gene related SNPs (count: 5)

Literature-origin SNPs (count: 1)

rs_ID	Location	Functional Annotation	No. of Studies (significant/non-significant/trend)
rs1051730	Chr15:78894339(Fwd)	NMD_transcript_variant; nc_transcript_variant; non_coding_exon_variant; synonymous_variant	1(0/1/0)

LD-proxies (count: 4)

rs_ID	Location	Functional Annotation
rs8040868	Chr15:78911181(Fwd)	5_prime_UTR_variant; NMD_transcript_variant; downstream_gene_variant; nc_transcript_variant; non_coding_exon_variant; synonymous_variant
rs12914385	Chr15:78898723(Fwd)	NMD_transcript_variant; intron_variant; nc_transcript_variant
rs1317286	Chr15:78896129(Fwd)	NMD_transcript_variant; intron_variant; nc_transcript_variant
rs16969968	Chr15:78882925(Fwd)	downstream_gene_variant; intron_variant; missense_variant; nc_transcript_variant; non_coding_exon_variant

Gene related CNVs (count: 0)

Gene related other variant (count: 0)

Gene related regions (count: 0)

Gene related GO terms (count: 26)

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

GO terms by database search (count: 26)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0042391	regulation of membrane potential	Biological Process		9
GO:0042166	acetylcholine binding	Molecular Function	IC[8906617]	5
GO:0035095	behavioral response to nicotine	Biological Process	IMP[18227835]	4
GO:0030425	dendrite	Cellular Component		46
GO:0060079	regulation of excitatory postsynaptic membrane potential	Biological Process		9
GO:0048814	regulation of dendrite morphogenesis	Biological Process		4
GO:0045211	postsynaptic membrane	Cellular Component		41
GO:0043025	neuronal cell body	Cellular Component		51
GO:0060084	synaptic transmission involved in micturition	Biological Process	IMP[11450844]	2
GO:0006811	ion transport	Biological Process	NAS[8906617]	25
GO:0006940	regulation of smooth muscle contraction	Biological Process		5
GO:0005886	plasma membrane	Cellular Component		772
GO:0005892	acetylcholine-gated channel complex	Cellular Component	IDA[8906617]	5
GO:0007268	synaptic transmission	Biological Process		96
GO:0007271	synaptic transmission, cholinergic	Biological Process		8
GO:0007165	signal transduction	Biological Process	IDA[8906617]	171
GO:0007171	activation of transmembrane receptor protein tyrosine kinase activity	Biological Process		3
GO:0014056	regulation of acetylcholine secretion	Biological Process		1
GO:0014069	postsynaptic density	Cellular Component		23
GO:0007399	nervous system development	Biological Process	IMP[11450844]	54
GO:0007626	locomotory behavior	Biological Process		24
GO:0016021	integral to membrane	Cellular Component	NAS[8906617]	845
GO:0030054	cell junction	Cellular Component		77
GO:0015276	ligand-gated ion channel activity	Molecular Function		4
GO:0015464	acetylcholine receptor activity	Molecular Function	IDA[8906617]	5
GO:0004889	acetylcholine-activated cation-selective channel activity	Molecular Function	IDA[8906617]	5

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 CHRNA3 (count: 28)

Gene Symbol	Pathway Count	Pathway List
CHRNA4	18	regulation of membrane potential; acetylcholine binding; behavioral response to nicotine; dendrite; postsynaptic membrane; neuronal cell body; ion transport; plasma membrane; acetylcholine-gated channel complex; synaptic transmission; synaptic transmission, cholinergic; signal transduction; locomotory behavior; integral to membrane; cell junction; ligand-gated ion channel activity; acetylcholine receptor activity; acetylcholine-activated cation-selective channel activity;
CHRNB4	16	behavioral response to nicotine; postsynaptic membrane; synaptic transmission involved in micturition; ion transport; regulation of smooth muscle contraction; plasma membrane; acetylcholine-gated channel complex; synaptic transmission; synaptic transmission, cholinergic; signal transduction; locomotory behavior; integral to membrane; cell junction; ligand-gated ion channel activity; acetylcholine receptor activity; acetylcholine-activated cation-selective channel activity;
CHRNA7	11	acetylcholine binding; postsynaptic membrane; ion transport; plasma membrane; acetylcholine-gated channel complex; synaptic transmission; signal transduction; integral to membrane; cell junction; acetylcholine receptor activity; acetylcholine-activated cation-selective channel activity;
CHRNA5	10	behavioral response to nicotine; postsynaptic membrane; plasma membrane; acetylcholine-gated channel complex; synaptic transmission; signal transduction; cell junction; ligand-gated ion channel activity; acetylcholine receptor activity; acetylcholine-activated cation-selective channel activity;
ACHE	9	acetylcholine binding; dendrite; regulation of dendrite morphogenesis; postsynaptic membrane; plasma membrane; synaptic transmission; synaptic transmission, cholinergic; nervous system development; cell junction;
CHRM3	7	acetylcholine binding; dendrite; postsynaptic membrane; plasma membrane; signal transduction; nervous system development; cell junction;
GRIK1	7	dendrite; regulation of excitatory postsynaptic membrane potential; postsynaptic membrane; plasma membrane; synaptic transmission; nervous system development; cell junction;
ADORA2A	7	regulation of excitatory postsynaptic membrane potential; postsynaptic membrane; neuronal cell body; plasma membrane; synaptic transmission, cholinergic; postsynaptic density; locomotory behavior;
GABRA5	6	dendrite; postsynaptic membrane; plasma membrane; synaptic transmission; signal transduction; cell junction;
GRIN2A	6	regulation of excitatory postsynaptic membrane potential; postsynaptic membrane; plasma membrane; synaptic transmission; postsynaptic density; cell junction;
GRIN2B	6	regulation of excitatory postsynaptic membrane potential; postsynaptic membrane; plasma membrane; synaptic transmission; postsynaptic density; cell junction;
CHRM1	6	postsynaptic membrane; plasma membrane; signal transduction; postsynaptic density; nervous system development; cell junction;
CNIH2	5	regulation of membrane potential; dendrite; postsynaptic membrane; postsynaptic density; cell junction;
ADCY4	5	dendrite; plasma membrane; synaptic transmission; signal transduction; integral to membrane;
GRIA4	5	dendrite; postsynaptic membrane; plasma membrane; synaptic transmission; cell junction;
GRM7	5	dendrite; postsynaptic membrane; plasma membrane; synaptic transmission; integral to membrane;
KCNIP1	5	dendrite; neuronal cell body; plasma membrane; synaptic transmission; signal transduction;
NLGN1	5	dendrite; postsynaptic membrane; postsynaptic density; nervous system development; cell junction;
DLG2	5	postsynaptic membrane; plasma membrane; synaptic transmission; postsynaptic density; cell junction;
GABRB3	5	postsynaptic membrane; plasma membrane; synaptic transmission; signal transduction; cell junction;
GABRG3	5	postsynaptic membrane; plasma membrane; synaptic transmission; integral to membrane; cell junction;
GRIN3A	5	postsynaptic membrane; neuronal cell body; postsynaptic density; integral to membrane; cell junction;
HTR3A	5	postsynaptic membrane; plasma membrane; synaptic transmission; integral to membrane; cell junction;
RAPSN	5	postsynaptic membrane; plasma membrane; synaptic transmission; synaptic transmission, cholinergic; cell junction;
CACNA1C	5	neuronal cell body; plasma membrane; synaptic transmission; postsynaptic density; integral to membrane;
SLC1A3	5	neuronal cell body; ion transport; plasma membrane; synaptic transmission; integral to membrane;
SLC5A7	5	neuronal cell body; plasma membrane; synaptic transmission; synaptic transmission, cholinergic; integral to membrane;
SLC6A3	5	neuronal cell body; plasma membrane; synaptic transmission; locomotory behavior; integral to membrane;

Genes shared at least 2 KEGG pathways with CHRNA3 (count: 0)

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Region: chr15:78885394..78913637 View in gBrowse