Gene Report

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Basic Info

Approved Symbol	GABRR3
Approved Name	gamma-aminobutyric acid (GABA) A receptor, rho 3 (gene/pseudogene)
Previous Name	gamma-aminobutyric acid (GABA) receptor, rho 3, "gamma-aminobutyric acid (GABA) A receptor, rho 3"
Name Alias	GABA(A) receptor, rho 3
Location	3q11.2
Position	chr3:97986673-98035304, -1
External Links	HGNC: 17969 Entrez Gene: 200959 Ensembl: ENSG00000183185 UCSC: uc021xbo.2
No. of Studies	1 (Positive: 1; Negative: 0; 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
Craddock, N., 2010	SNP: rs854579	set-based analysis for gene-wide P-value = 0.044. gene-wide levels of statistical significance in RDC SABP samples, but not other subsets of samples.	Positive	Comment on Study

Gene functional annotation

Gene related GO terms (count: 14)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0045211	postsynaptic membrane	cellular component	IEA	68
GO:0005254	chloride channel activity	molecular function	IEA	12
GO:0004890	GABA-A receptor activity	molecular function	NAS[10542332]	11
GO:0007268	synaptic transmission	biological process	NAS[10542332]; TAS	116
GO:0005886	plasma membrane	cellular component	TAS	360
GO:0019904	protein domain specific binding	molecular function	IEA	24

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0005230	extracellular ligand-gated ion channel activity	molecular function	IEA	11
GO:0055085	transmembrane transport	biological process	TAS	77
GO:0030054	cell junction	cellular component	IEA	88
GO:0005575	cellular_component	cellular component	ND	19
GO:0034220	ion transmembrane transport	biological process	TAS	50
GO:1902476	chloride transmembrane transport	biological process	IEA	16
GO:0034707	chloride channel complex	cellular component	IEA	13
GO:0007214	gamma-aminobutyric acid signaling pathway	biological process	NAS[10542332]	15

Gene related KEGG pathways (count: 0)

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 0)

Related other genetic factors

Gene related SNPs (count: 4)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs854579	chr3:98019352 - 98019352(1)	intron_variant; non_coding_transcript_variant	1(1/0/0)

rs_ID	Location	Functional Annotation
rs13071870	chr3:98005450 - 98005450(1)	intron_variant; non_coding_transcript_variant
rs16839096	chr3:98009404 - 98009404(1)	intron_variant; non_coding_transcript_variant
rs832041	chr3:98025767 - 98025767(1)	intron_variant; non_coding_transcript_variant

Gene related CNVs (count: 0)

Gene related other variants (count: 0)

Gene related regions (count: 1)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
Chr 3	chr3:0-198295559	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: chr3:97986673..98035304 View in gBrowse