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	CHRNB4
Approved Name	cholinergic receptor, nicotinic, beta 4 (neuronal)
Previous Name	"cholinergic receptor, nicotinic, beta polypeptide 4"
Name Alias	"acetylcholine receptor, nicotinic, beta 4 (neuronal)"
Location	15q24
Position	chr15:78916461-79020096, -1
External Links	HGNC: 1964 Entrez Gene: 1143 Ensembl: ENSG00000117971 UCSC: uc002bed.1
No. of Studies	0 (significant: 0; non-significant: 0; trend: 0)
Source	Mapped by LD-proxy

Gene related studies (count: 0)

Gene related SNPs (count: 12)

Literature-origin SNPs (count: 0)

LD-proxies (count: 12)

rs_ID	Location	Functional Annotation
rs11638830	chr15:78948319(Fwd)	intron_variant; nc_transcript_variant; NMD_transcript_variant; upstream_gene_variant
rs12899135	chr15:78954379(Fwd)	intron_variant; nc_transcript_variant; upstream_gene_variant
rs17487223	chr15:78923987(Fwd)	downstream_gene_variant; intron_variant; nc_transcript_variant; NMD_transcript_variant
rs11634351	chr15:78944718(Fwd)	intron_variant; nc_transcript_variant; NMD_transcript_variant
rs922692	chr15:78984214(Fwd)	downstream_gene_variant; intron_variant; nc_transcript_variant
rs11638372	chr15:78983559(Fwd)	downstream_gene_variant; intron_variant; nc_transcript_variant
rs4887077	chr15:78978364(Fwd)	downstream_gene_variant; intron_variant; nc_transcript_variant
rs11072785	chr15:78968229(Fwd)	intron_variant; nc_transcript_variant
rs1021071	chr15:78968179(Fwd)	intron_variant; nc_transcript_variant
rs12902602	chr15:78967401(Fwd)	intron_variant; nc_transcript_variant
rs11639372	chr15:78966655(Fwd)	intron_variant; nc_transcript_variant
rs1996371	chr15:78956806(Fwd)	intron_variant; nc_transcript_variant; upstream_gene_variant

Gene related CNVs (count: 0)

Gene related other variant (count: 0)

Gene related regions (count: 0)

Gene related GO terms (count: 20)

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

GO terms by database search (count: 20)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0016021	integral to membrane	cellular component	NAS[8906617]	932
GO:0007165	signal transduction	biological process	IDA[8906617]	189
GO:0007271	synaptic transmission, cholinergic	biological process	TAS[1330682]	8
GO:0006939	smooth muscle contraction	biological process	IEA	10
GO:0007268	synaptic transmission	biological process	TAS	103
GO:0004889	acetylcholine-activated cation-selective channel activity	molecular function	TAS[11742001]	5
GO:0001508	regulation of action potential	biological process	IEA	2
GO:0015276	ligand-gated ion channel activity	molecular function	TAS	4
GO:0060084	synaptic transmission involved in micturition	biological process	IMP[11450844]	2
GO:0005887	integral to plasma membrane	cellular component	IC[11742001]	236
GO:0030054	cell junction	cellular component	IEA	84
GO:0006940	regulation of smooth muscle contraction	biological process	IEA	5
GO:0007626	locomotory behavior	biological process	IEA	26
GO:0005892	acetylcholine-gated channel complex	cellular component	IDA[8906617]; TAS[11742001]	5
GO:0006811	ion transport	biological process	TAS[8906617]	32
GO:0035095	behavioral response to nicotine	biological process	IEA	4
GO:0046928	regulation of neurotransmitter secretion	biological process	NAS[11742001]	5
GO:0045211	postsynaptic membrane	cellular component	IEA	45
GO:0005886	plasma membrane	cellular component	TAS	839
GO:0015464	acetylcholine receptor activity	molecular function	IDA[8906617]	5

Gene related KEGG pathways (count: 0)

Genes shared at least 5 GO terms with CHRNB4 (count: 20)

Gene Symbol	Pathway Count	Pathway List
CHRNA3	16	integral to membrane; signal transduction; synaptic transmission, cholinergic; synaptic transmission; acetylcholine-activated cation-selective channel activity; ligand-gated ion channel activity; synaptic transmission involved in micturition; cell junction; regulation of smooth muscle contraction; locomotory behavior; acetylcholine-gated channel complex; ion transport; behavioral response to nicotine; postsynaptic membrane; plasma membrane; acetylcholine receptor activity;
CHRNA4	15	integral to membrane; signal transduction; synaptic transmission, cholinergic; synaptic transmission; acetylcholine-activated cation-selective channel activity; regulation of action potential; ligand-gated ion channel activity; cell junction; locomotory behavior; acetylcholine-gated channel complex; ion transport; behavioral response to nicotine; postsynaptic membrane; plasma membrane; acetylcholine receptor activity;
CHRNA7	10	integral to membrane; signal transduction; synaptic transmission; acetylcholine-activated cation-selective channel activity; cell junction; acetylcholine-gated channel complex; ion transport; postsynaptic membrane; plasma membrane; acetylcholine receptor activity;
CHRNA5	10	signal transduction; synaptic transmission; acetylcholine-activated cation-selective channel activity; ligand-gated ion channel activity; cell junction; acetylcholine-gated channel complex; behavioral response to nicotine; postsynaptic membrane; plasma membrane; acetylcholine receptor activity;
HTR3A	6	integral to membrane; synaptic transmission; integral to plasma membrane; cell junction; postsynaptic membrane; plasma membrane;
GABRA5	6	signal transduction; synaptic transmission; integral to plasma membrane; cell junction; postsynaptic membrane; plasma membrane;
GABRB3	6	signal transduction; synaptic transmission; integral to plasma membrane; cell junction; postsynaptic membrane; plasma membrane;
CHRM3	6	signal transduction; smooth muscle contraction; integral to plasma membrane; cell junction; postsynaptic membrane; plasma membrane;
GRM7	5	integral to membrane; synaptic transmission; integral to plasma membrane; postsynaptic membrane; plasma membrane;
SLC6A3	5	integral to membrane; synaptic transmission; integral to plasma membrane; locomotory behavior; plasma membrane;
GABRG3	5	integral to membrane; synaptic transmission; cell junction; postsynaptic membrane; plasma membrane;
CHRM1	5	signal transduction; integral to plasma membrane; cell junction; postsynaptic membrane; plasma membrane;
ACHE	5	synaptic transmission, cholinergic; synaptic transmission; cell junction; postsynaptic membrane; plasma membrane;
ADORA2A	5	synaptic transmission, cholinergic; integral to plasma membrane; locomotory behavior; postsynaptic membrane; plasma membrane;
RAPSN	5	synaptic transmission, cholinergic; synaptic transmission; cell junction; postsynaptic membrane; plasma membrane;
GABBR2	5	synaptic transmission; integral to plasma membrane; cell junction; postsynaptic membrane; plasma membrane;
GRIN2A	5	synaptic transmission; integral to plasma membrane; cell junction; postsynaptic membrane; plasma membrane;
GRIK4	5	synaptic transmission; integral to plasma membrane; cell junction; postsynaptic membrane; plasma membrane;
GRIK1	5	synaptic transmission; integral to plasma membrane; cell junction; postsynaptic membrane; plasma membrane;
GRIN2B	5	synaptic transmission; integral to plasma membrane; cell junction; postsynaptic membrane; plasma membrane;

Genes shared at least 2 KEGG pathways with CHRNB4 (count: 0)

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Region: chr15:78916461..79020096 View in gBrowse