Gene Report

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Basic Info

Approved Symbol	GABRB3
Approved Name	gamma-aminobutyric acid (GABA) A receptor, beta 3
Name Alias	GABA(A) receptor, beta 3
Location	15q12
Position	chr15:26543546-26939539, -1
External Links	HGNC: 4083 Entrez Gene: 2562 Ensembl: ENSG00000166206 UCSC: uc001zba.4
No. of Studies	3 (Positive: 1; Negative: 2; trend: 0)
Overlap with SZ?	NO
Overlap with MDD?	NO

Gene related studies (count: 3)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Papadimitriou, G. N.,2001	Other variant: GABRB3_(CA) repeat	In conclusion, the GABRB3 CA-repeat polymorphism we investigated does not present the observed association between bipolar affective illness and GABRA5.	Negative	Comment on Study
Craddock, N., 2010	SNP: rs890319	set-based analysis for gene-wide P-value = 0.0107. gene-wide levels of statistical significance in RDC SABP samples, but not other subsets of samples.	Positive	Comment on Study
Duffy, A.,2000	Other variant: GABRB3_GDB160763	In conclusion, our study does not support the hypothesis that genes coding for CRH or PENK contribute to the genetic susceptibility to bipolar disorder.	Negative	Comment on Study

Gene functional annotation

Gene related GO terms (count: 23)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0007268	synaptic transmission	biological process	TAS	116
GO:0045211	postsynaptic membrane	cellular component	IEA	68
GO:0005886	plasma membrane	cellular component	TAS	360
GO:0005887	integral component of plasma membrane	cellular component	IMP[22303015]	158
GO:0005254	chloride channel activity	molecular function	IEA	12
GO:0004890	GABA-A receptor activity	molecular function	IMP[22303015]	11

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0060384	innervation	biological process	IEA	3
GO:1902711	GABA-A receptor complex	cellular component	IMP[22303015]; ISS	3
GO:0030054	cell junction	cellular component	IEA	88
GO:0006810	transport	biological process	TAS[1664410]	47
GO:0022851	GABA-gated chloride ion channel activity	molecular function	IMP[22303015]; ISS	1
GO:0007165	signal transduction	biological process	TAS[1664410]	136
GO:0034220	ion transmembrane transport	biological process	TAS	50
GO:1902476	chloride transmembrane transport	biological process	IMP[22303015]; ISS	16
GO:0060119	inner ear receptor cell development	biological process	IEA	4
GO:0071420	cellular response to histamine	biological process	IDA[18281286]	5
GO:0005230	extracellular ligand-gated ion channel activity	molecular function	IEA	11
GO:0034707	chloride channel complex	cellular component	IEA	13
GO:0090102	cochlea development	biological process	IEA	7
GO:0007605	sensory perception of sound	biological process	IEA	18
GO:0055085	transmembrane transport	biological process	TAS	77
GO:0043524	negative regulation of neuron apoptotic process	biological process	IEA	26
GO:0060021	palate development	biological process	ISS	6

Gene related KEGG pathways (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
GABRB3	ARFGEF2	NO	in vitro;in vivo;yeast 2-hybrid	15198677
GABRB3	AKAP5	YES	in vitro;in vivo	12595241
GABRB3	PPP2CA	NO	in vitro	14724252
GABRB3	GNB2L1	NO	in vitro	14724252

Related other genetic factors

Gene related SNPs (count: 7)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs17561681	chr15:26933328 - 26933328(1)	intron_variant	1(1/0/0)
rs890319	chr15:26668487 - 26668487(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant; upstream_gene_variant	1(1/0/0)
rs6606854	chr15:26914049 - 26914049(1)	intron_variant; non_coding_transcript_variant	1(0/1/0)
rs140681	chr15:26937065 - 26937065(1)	intron_variant	2(2/0/0)
rs140683	chr15:26943188 - 26943188(1)	intron_variant; upstream_gene_variant	1(0/1/0)

rs_ID	Literature-origin SNPs with LD	Location	Functional Annotation
rs1367959		chr15:26672011 - 26672011(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant
rs1864793		chr15:26938442 - 26938442(1)	downstream_gene_variant; intron_variant

Gene related CNVs (count: 0)

Gene related other variants (count: 2)

Variant Name	Variant Type	Location in Gene	No. of Studies (Positive/Negative/Trend)
GABRB3_GDB160763	VNTR		1 (0/1/0)
GABRB3_(CA) repeat	microsatellite		1 (0/1/0)

Gene related regions (count: 2)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
Chr 15	chr15:0-101991189	2 (0/2/0)
15q12	chr15:25500000-27800000	2 (0/2/0)

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

Gene relationship with SZ

Gene relationship with MDD

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Region: chr15:26543546..26939539 View in gBrowse