Gene Report

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Basic Info

Approved Symbol	GABBR2
Previous Symbol	GPR51
Symbol Alias	HG20, GABABR2, GPRC3B
Approved Name	gamma-aminobutyric acid (GABA) B receptor, 2
Previous Name	G protein-coupled receptor 51
Location	9q22.1-q22.3
Position	chr9:98288082-98709197, -1
External Links	HGNC: 4507 Entrez Gene: 9568 Ensembl: ENSG00000136928 UCSC: uc004ays.3
No. of Studies	2 (Positive: 0; Negative: 2; trend: 0)
Overlap with SZ?	NO
Overlap with MDD?	YES

Gene related studies (count: 2)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Xu, W., 2014	SNP: rs7864144	The SNP within or near this gene did not achieve genome-wide significance.	Negative	Comment on Study
Ollila, H. M.,2009	SNP: rs3802477	It showed no evidence for association with BPI in our study.	Negative	Comment on Study

Gene functional annotation

Gene related GO terms (count: 13)

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:0007194	negative regulation of adenylate cyclase activity	biological process	TAS[10328880]	11
GO:0005887	integral component of plasma membrane	cellular component	IDA[9872316]	158

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0038039	G-protein coupled receptor heterodimeric complex	cellular component	IPI[9872316]	1
GO:0007186	G-protein coupled receptor signaling pathway	biological process	TAS[9872316]	64
GO:0005515	protein binding	molecular function	IPI[16724110]	563
GO:0005737	cytoplasm	cellular component	IEA	322
GO:0004965	G-protein coupled GABA receptor activity	molecular function	IDA[9872316]	1
GO:0043005	neuron projection	cellular component	IEA	38
GO:0030054	cell junction	cellular component	IEA	88
GO:0007214	gamma-aminobutyric acid signaling pathway	biological process	IDA[9872316]	15

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: 6)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
GABBR2	ATF4	YES	yeast 2-hybrid	11087824
GABBR2	GABBR1	YES	in vitro;in vivo;yeast 2-hybrid	10075644 , 9872316
GABBR2	SH3GL3	NO	yeast 2-hybrid	16169070
GABBR2	GRASP	NO	yeast 2-hybrid	11850456
GABBR2	ATF5	YES	yeast 2-hybrid	11087824
GABBR2	NSF	NO	in vitro;in vivo;yeast 2-hybrid	16724110

Related other genetic factors

Gene related SNPs (count: 5)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs3802477	chr9:98453895 - 98453895(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant	1(0/1/0)
rs7864144	chr9:98643756 - 98643756(1)	intron_variant	1(0/1/0)

rs_ID	Location	Functional Annotation
rs2779543	chr9:98634332 - 98634332(1)	intron_variant
rs10120452	chr9:98623959 - 98623959(1)	intron_variant
rs967931	chr9:98643279 - 98643279(1)	intron_variant

Gene related CNVs (count: 0)

Gene related other variants (count: 0)

Gene related regions (count: 3)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
9q21-32	chr9:65000000-114900000	1 (0/1/0)
Chr 9	chr9:0-138394717	3 (0/3/0)
9q21-22	chr9:65000000-99800000	1 (0/1/0)

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

Gene relationship with SZ

Gene relationship with MDD

Reference	Description	Category in MDD	Link in MK4MDD
17938633	Selected differentially expressed genes in BA44 to BA47 (ANOVA and t-test P < 0.01, fold change 1.3t)	Pos	GABBR2

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Region: chr9:98288082..98709197 View in gBrowse