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	GABRB3
Approved Name	gamma-aminobutyric acid (GABA) A receptor, beta 3
Location	15q11.2-q12
Position	chr15:26788693-27018935, -
External Links	HGNC: 4083 Entrez Gene: 2562 Ensembl: ENSG00000166206 UCSC: uc001zaz.2
No. of Studies	0 (significant: 0; non-significant: 0; trend: 0)
Source	Mapped by CNV; Mapped by significant region

Gene related studies (count: 0)

Gene related SNPs (count: 0)

Gene related CNVs (count: 1)

ID	Location	Size	Band	Type	Inheritance
CNV_Williams[2010]_46	chr15:21016722-25902239 (NCBI Build 36.1 (hg18))	4933636	15q11.2-15q13.1	Gain

Gene related other variant (count: 0)

Gene related regions (count: 1)

Region Name	Position	No. of Studies (significant/non-significant/trend)
15q11.2-13.3	chr15:20700000-33600000	1 (1/0/0)

Gene related GO terms (count: 17)

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

GO terms by database search (count: 17)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0006810	transport	Biological Process	TAS[1664410]	62
GO:0005887	integral to plasma membrane	Cellular Component	TAS[1664410]	220
GO:0007268	synaptic transmission	Biological Process		96
GO:0007165	signal transduction	Biological Process	TAS[1664410]	171
GO:0005230	extracellular ligand-gated ion channel activity	Molecular Function		7
GO:0004890	GABA-A receptor activity	Molecular Function		4
GO:0005886	plasma membrane	Cellular Component		772
GO:0005254	chloride channel activity	Molecular Function		6
GO:0055085	transmembrane transport	Biological Process		82
GO:0045211	postsynaptic membrane	Cellular Component		41
GO:0060384	innervation	Biological Process		3
GO:0060119	inner ear receptor cell development	Biological Process		2
GO:0030054	cell junction	Cellular Component		77
GO:0007605	sensory perception of sound	Biological Process		31
GO:0034707	chloride channel complex	Cellular Component		7
GO:0034220	ion transmembrane transport	Biological Process		11
GO:0090102	cochlea development	Biological Process		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 GABRB3 (count: 25)

Gene Symbol	Pathway Count	Pathway List
GABRA5	17	transport; integral to plasma membrane; synaptic transmission; signal transduction; extracellular ligand-gated ion channel activity; GABA-A receptor activity; plasma membrane; chloride channel activity; transmembrane transport; postsynaptic membrane; innervation; inner ear receptor cell development; cell junction; sensory perception of sound; chloride channel complex; ion transmembrane transport; cochlea development;
GABRG3	10	synaptic transmission; extracellular ligand-gated ion channel activity; GABA-A receptor activity; plasma membrane; chloride channel activity; transmembrane transport; postsynaptic membrane; cell junction; chloride channel complex; ion transmembrane transport;
HTR3A	9	transport; integral to plasma membrane; synaptic transmission; extracellular ligand-gated ion channel activity; plasma membrane; transmembrane transport; postsynaptic membrane; cell junction; ion transmembrane transport;
GABRG1	8	synaptic transmission; extracellular ligand-gated ion channel activity; GABA-A receptor activity; plasma membrane; chloride channel activity; postsynaptic membrane; cell junction; chloride channel complex;
HTR3B	7	transport; integral to plasma membrane; synaptic transmission; plasma membrane; transmembrane transport; postsynaptic membrane; ion transmembrane transport;
CHRNA5	6	transport; synaptic transmission; signal transduction; plasma membrane; postsynaptic membrane; cell junction;
GRIK1	6	transport; integral to plasma membrane; synaptic transmission; plasma membrane; postsynaptic membrane; cell junction;
GRIK4	6	transport; integral to plasma membrane; synaptic transmission; plasma membrane; postsynaptic membrane; cell junction;
GRIN2A	6	transport; integral to plasma membrane; synaptic transmission; plasma membrane; postsynaptic membrane; cell junction;
GRIN2B	6	transport; integral to plasma membrane; synaptic transmission; plasma membrane; postsynaptic membrane; cell junction;
CHRNB4	6	integral to plasma membrane; synaptic transmission; signal transduction; plasma membrane; postsynaptic membrane; cell junction;
AQP4	5	transport; integral to plasma membrane; plasma membrane; transmembrane transport; sensory perception of sound;
GJA1	5	transport; integral to plasma membrane; signal transduction; plasma membrane; ion transmembrane transport;
GRIA4	5	transport; synaptic transmission; plasma membrane; postsynaptic membrane; cell junction;
GRID2	5	transport; integral to plasma membrane; plasma membrane; postsynaptic membrane; cell junction;
SLC6A1	5	transport; integral to plasma membrane; synaptic transmission; plasma membrane; transmembrane transport;
SLC6A2	5	transport; integral to plasma membrane; synaptic transmission; plasma membrane; transmembrane transport;
SLC6A3	5	transport; integral to plasma membrane; synaptic transmission; plasma membrane; transmembrane transport;
CHRM1	5	integral to plasma membrane; signal transduction; plasma membrane; postsynaptic membrane; cell junction;
CHRM3	5	integral to plasma membrane; signal transduction; plasma membrane; postsynaptic membrane; cell junction;
GABBR2	5	integral to plasma membrane; synaptic transmission; plasma membrane; postsynaptic membrane; cell junction;
GRM7	5	integral to plasma membrane; synaptic transmission; plasma membrane; postsynaptic membrane; sensory perception of sound;
CHRNA3	5	synaptic transmission; signal transduction; plasma membrane; postsynaptic membrane; cell junction;
CHRNA4	5	synaptic transmission; signal transduction; plasma membrane; postsynaptic membrane; cell junction;
CHRNA7	5	synaptic transmission; signal transduction; plasma membrane; postsynaptic membrane; cell junction;

Genes shared at least 2 KEGG pathways with GABRB3 (count: 0)

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Region: chr15:26788693..27018935 View in gBrowse