Gene Report

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Basic Info

Approved Symbol	GABRR1
Approved Name	gamma-aminobutyric acid (GABA) A receptor, rho 1
Previous Name	gamma-aminobutyric acid (GABA) receptor, rho 1
Name Alias	GABA(A) receptor, rho 1
Location	6q15
Position	chr6:89177501-89231278, -1
External Links	HGNC: 4090 Entrez Gene: 2569 Ensembl: ENSG00000146276 UCSC: uc003pna.2
No. of Studies	1 (Positive: 1; Negative: 0; trend: 0)
Overlap with SZ?	NO
Overlap with MDD?	YES

Gene related studies (count: 1)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Green, E. K.,2010	SNP: rs9451173	We therefore report suggestive evidence for the involvement of a sixth GABAA receptor gene family member, GABRR1, in susceptibility to bipolarmood phenotypemeetingRDCcriteria for SABP.	Positive	Comment on Study

Gene functional annotation

Gene related GO terms (count: 14)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0007268	synaptic transmission	biological process	TAS	116
GO:0004890	GABA-A receptor activity	molecular function	IEA	11
GO:0005886	plasma membrane	cellular component	TAS	360
GO:0005254	chloride channel activity	molecular function	IEA	12
GO:0005887	integral component of plasma membrane	cellular component	TAS[10779366]	158
GO:0045211	postsynaptic membrane	cellular component	IEA	68

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0055085	transmembrane transport	biological process	TAS	77
GO:0006810	transport	biological process	TAS[1849271]	47
GO:0007214	gamma-aminobutyric acid signaling pathway	biological process	TAS[10779366]	15
GO:0030054	cell junction	cellular component	IEA	88
GO:0034707	chloride channel complex	cellular component	IEA	13
GO:0005230	extracellular ligand-gated ion channel activity	molecular function	IEA	11
GO:1902476	chloride transmembrane transport	biological process	IEA	16
GO:0034220	ion transmembrane transport	biological process	TAS	50

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: 9)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
GABRR1	P2RX2	NO	in vitro;in vivo	14660627
GABRR1	MAP1B	NO	in vivo	11102469 , 9892354
GABRR1	PRKACA	NO	in vitro	12175859
GABRR1	SQSTM1	NO	in vitro;yeast 2-hybrid	12431995
GABRR1	MAPK1	NO	in vitro	12175859
GABRR1	PRKCA	NO	in vitro	12175859 , 10779366
GABRR1	SLC6A9	NO	in vitro;in vivo;yeast 2-hybrid	10625616
GABRR1	GABRR2	NO	in vitro	9153229
GABRR1	PRKG1	NO	in vitro	12175859

Related other genetic factors

Gene related SNPs (count: 1)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs9451173	chr6:89183100 - 89183100(1)	intron_variant; NMD_transcript_variant	1(1/0/0)

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 6	chr6:0-170805979	3 (0/3/0)
6q14-22	chr6:75200000-130000000	1 (0/0/1)

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	GABRR1

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Region: chr6:89177501..89231278 View in gBrowse