Gene Report

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Basic Info

Approved Symbol	GABRG3
Approved Name	gamma-aminobutyric acid (GABA) A receptor, gamma 3
Name Alias	GABA(G) receptor, gamma 3
Location	15q12
Position	chr15:26971282-27541991, 1
External Links	HGNC: 4088 Entrez Gene: 2567 Ensembl: ENSG00000182256 UCSC: uc001zbg.2
No. of Studies	1 (Positive: 0; Negative: 1; trend: 0)
Overlap with SZ?	NO
Overlap with MDD?	NO

Gene related studies (count: 1)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Xu, W., 2014	SNP: rs140673	SNPs were identified with suggestive association at a number of other genes with plausible biological arguments for involvement in, and/or previous associations to BD, such as GABRG3 (p=3.83Ã—10-5).	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:0005254	chloride channel activity	molecular function	IEA	12
GO:0004890	GABA-A receptor activity	molecular function	IEA	11
GO:0045211	postsynaptic membrane	cellular component	IEA	68
GO:0005886	plasma membrane	cellular component	TAS	360

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0055085	transmembrane transport	biological process	TAS	77
GO:1902476	chloride transmembrane transport	biological process	IEA	16
GO:0034707	chloride channel complex	cellular component	IEA	13
GO:0005230	extracellular ligand-gated ion channel activity	molecular function	IEA	11
GO:0030054	cell junction	cellular component	IEA	88
GO:0007214	gamma-aminobutyric acid signaling pathway	biological process	IEA	15
GO:0034220	ion transmembrane transport	biological process	TAS	50
GO:0042493	response to drug	biological process	IEA	57

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: 1)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
GABRG3	GABARAP	NO	in vitro;in vivo	11948245

Related other genetic factors

Gene related SNPs (count: 12)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs140673	chr15:27327182 - 27327182(1)	intron_variant; upstream_gene_variant	1(0/1/0)

rs_ID	Location	Functional Annotation
rs28404787	chr15:27354479 - 27354479(1)	downstream_gene_variant; intron_variant
rs2288694	chr15:26971599 - 26971599(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant
rs28542514	chr15:27327617 - 27327617(1)	intron_variant; upstream_gene_variant
rs140675	chr15:27328969 - 27328969(1)	intron_variant
rs6422909	chr15:27326696 - 27326696(1)	intron_variant; upstream_gene_variant
rs140672	chr15:27327045 - 27327045(1)	intron_variant; upstream_gene_variant
rs6422908	chr15:27326584 - 27326584(1)	intron_variant; upstream_gene_variant
rs6606902	chr15:27326503 - 27326503(1)	intron_variant; upstream_gene_variant
rs6422907	chr15:27326470 - 27326470(1)	intron_variant; upstream_gene_variant
rs8029122	chr15:27325897 - 27325897(1)	intron_variant; upstream_gene_variant
rs8037265	chr15:27322238 - 27322238(1)	intron_variant; upstream_gene_variant

Gene related CNVs (count: 0)

Gene related other variants (count: 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: chr15:26971282..27541991 View in gBrowse