Gene Report

Basic information

Related studies

Functional annotation

Related other genetic factors

Overlap with SZ and MDD

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Basic Info

Approved Symbol	GABRB2
Approved Name	gamma-aminobutyric acid (GABA) A receptor, beta 2
Name Alias	GABA(A) receptor, beta 2
Location	5q34
Position	chr5:161288429-161549044, -1
External Links	HGNC: 4082 Entrez Gene: 2561 Ensembl: ENSG00000145864 UCSC: uc003lys.1
No. of Studies	1 (Positive: 1; Negative: 0; trend: 0)
Overlap with SZ?	YES
Overlap with MDD?	YES

Gene related studies (count: 1)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Perlis, 2008	SNP: rs10515827, rs1644454, rs194073, rs3850733, rs967771	permuted P< .005 in gene-based association tests. No genes specifically chosen to probe the action of lithium were associated with bipolar disorder. However, gene-based analysis of sialyltransferase 4A (SIAT4A), tachykinin receptor 1 (TACR1), and -aminobutyric acidA 2 receptor subunit (GABRB2) yielded evidence of association.	Positive	Comment on Study

Gene functional annotation

Gene related GO terms (count: 24)

GO terms by PBA (count: 6)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0005886	plasma membrane	cellular component	TAS	360
GO:0045211	postsynaptic membrane	cellular component	IEA	68
GO:0007268	synaptic transmission	biological process	TAS	116
GO:0005254	chloride channel activity	molecular function	ISS	12
GO:0005887	integral component of plasma membrane	cellular component	ISS	158
GO:0004890	GABA-A receptor activity	molecular function	ISS	11

GO terms by database search (count: 18)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0005237	inhibitory extracellular ligand-gated ion channel activity	molecular function	IEA	1
GO:1902711	GABA-A receptor complex	cellular component	ISS	3
GO:0090102	cochlea development	biological process	IEA	7
GO:0051932	synaptic transmission, GABAergic	biological process	ISS	2
GO:0060384	innervation	biological process	IEA	3
GO:0007605	sensory perception of sound	biological process	IEA	18
GO:0060119	inner ear receptor cell development	biological process	IEA	4
GO:0006810	transport	biological process	TAS[8264558]	47
GO:0034707	chloride channel complex	cellular component	IEA	13
GO:0030054	cell junction	cellular component	IEA	88
GO:0071420	cellular response to histamine	biological process	ISS	5
GO:1902476	chloride transmembrane transport	biological process	ISS	16
GO:0070062	extracellular vesicular exosome	cellular component	IDA[19056867]	176
GO:0055085	transmembrane transport	biological process	TAS	77
GO:0007214	gamma-aminobutyric acid signaling pathway	biological process	TAS[8264558]	15
GO:0043524	negative regulation of neuron apoptotic process	biological process	IEA	26
GO:0034220	ion transmembrane transport	biological process	TAS	50
GO:0005829	cytosol	cellular component	IEA	223

Gene related KEGG pathways (count: 1)

KEGG pathways by PBA (count: 0)

KEGG pathways by database search (count: 1)

ID	Name	No. of Genes in BDgene	Brief Description
hsa04080	Neuroactive ligand-receptor interaction	92

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 4)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
GABRB2	PPP3CA	NO	in vitro	12574411
GABRB2	TRAK2	NO	in vitro;in vivo	12435728 , 12034717
GABRB2	PRKCB	NO	in vitro	1321150
GABRB2	ARFGEF2	NO	yeast 2-hybrid	15198677

Related other genetic factors

Gene related SNPs (count: 44)

Literature-origin SNPs (count: 7)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs1644454	chr5:161317984 - 161317984(1)	intron_variant	1(1/0/0)
rs252952	chr5:161287327 - 161287327(1)	downstream_gene_variant	1(1/0/0)
rs592403	chr5:161292977 - 161292977(1)	3_prime_UTR_variant; downstream_gene_variant	1(1/0/0)
rs967771	chr5:161335167 - 161335167(1)	intron_variant	2(2/0/0)
rs10515827	chr5:161327950 - 161327950(1)	downstream_gene_variant; intron_variant	2(2/0/0)
rs3850733	chr5:161311310 - 161311310(1)	intron_variant	1(1/0/0)
rs194073	chr5:161307633 - 161307633(1)	intron_variant	1(1/0/0)

LD-proxies (count: 37)

rs_ID	Location	Functional Annotation
rs1644517	chr5:161324486 - 161324486(1)	downstream_gene_variant; intron_variant
rs2546619	chr5:161322172 - 161322172(1)	intron_variant
rs1677381	chr5:161325990 - 161325990(1)	downstream_gene_variant; intron_variant
rs252947	chr5:161288871 - 161288871(1)	3_prime_UTR_variant; downstream_gene_variant
rs252980	chr5:161303057 - 161303057(1)	intron_variant
rs253002	chr5:161321472 - 161321472(1)	intron_variant
rs253003	chr5:161321667 - 161321667(1)	intron_variant
rs252954	chr5:161285400 - 161285400(1)	downstream_gene_variant
rs252955	chr5:161284971 - 161284971(1)	downstream_gene_variant
rs252949	chr5:161287789 - 161287789(1)	downstream_gene_variant
rs252950	chr5:161287592 - 161287592(1)	downstream_gene_variant
rs153295	chr5:161286379 - 161286379(1)	downstream_gene_variant
rs252953	chr5:161285842 - 161285842(1)	downstream_gene_variant
rs252951	chr5:161287484 - 161287484(1)	downstream_gene_variant
rs3901706	chr5:161311713 - 161311713(1)	intron_variant
rs17059273	chr5:161311519 - 161311519(1)	intron_variant
rs13185229	chr5:161311927 - 161311927(1)	intron_variant
rs13185200	chr5:161311884 - 161311884(1)	intron_variant
rs869648	chr5:161312702 - 161312702(1)	intron_variant
rs17521304	chr5:161404861 - 161404861(1)	intron_variant
rs153297	chr5:161314846 - 161314846(1)	intron_variant
rs869647	chr5:161312619 - 161312619(1)	intron_variant
rs252973	chr5:161306617 - 161306617(1)	intron_variant
rs13183258	chr5:161434582 - 161434582(1)	intron_variant
rs252977	chr5:161303632 - 161303632(1)	intron_variant
rs13183893	chr5:161434948 - 161434948(1)	intron_variant
rs17521569	chr5:161414197 - 161414197(1)	intron_variant
rs252978	chr5:161303561 - 161303561(1)	intron_variant
rs252982	chr5:161301163 - 161301163(1)	intron_variant
rs252960	chr5:161300131 - 161300131(1)	intron_variant
rs153300	chr5:161299525 - 161299525(1)	intron_variant
rs252965	chr5:161295856 - 161295856(1)	intron_variant
rs7709316	chr5:161298593 - 161298593(1)	intron_variant
rs1644439	chr5:161292145 - 161292145(1)	3_prime_UTR_variant; downstream_gene_variant
rs252972	chr5:161306890 - 161306890(1)	intron_variant
rs3850732	chr5:161311223 - 161311223(1)	intron_variant
rs12522476	chr5:161307708 - 161307708(1)	intron_variant

Gene related CNVs (count: 1)

ID	Location	Size	Band	Type	Inheritance
CNV_Zhang[2009]_104	chr5:160545244-161037282 (Affymetrix SNP 6.0 array reference genome)	492038		Singleton deletions

Gene related other variants (count: 0)

Gene related regions (count: 2)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
Chr 5	chr5:0-181538259	3 (0/2/1)
5q33-34	chr5:150400000-169000000	1 (1/0/0)

Overlap with schizophrenia (SZ) and major depressive disorder (MDD)

Gene relationship with SZ

Overlap with SZ from cross-disorder studies (count: 0)

Overlap with SZ from candidate gene intersection analysis (count: 12)

Reference	ID in SZGene	Result Category
19158809	328	Positive
16172613	328	Positive
17412563	328	Positive
16950232	328	Positive
17167345	328	Negative
15993854	328	Negative
14699426	328	Positive
16023997	328	Positive
20404824	328	Positive
16472798	328	Positive
17520021	328	Positive
16983389	328	Positive

Gene relationship with MDD

Overlap with MDD from cross-disorder studies (count: 0)

Overlap with MDD from candidate gene intersection analysis (count: 2)

Reference	Description	Category in MDD	Link in MK4MDD
22357337	We found the transcript levels of GABA(A) receptor beta 2 (GABRB2) and post-synaptic density-95 (PSD-95) to be significantly decreased in the ACC in mood disorder.	Pos	GABRB2
15303102	Genes altered in major depressive disorder	Pos	GABRB2

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Region: chr5:161288429..161549044 View in gBrowse