Gene Report

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Basic Info

Approved Symbol	GABRA3
Approved Name	gamma-aminobutyric acid (GABA) A receptor, alpha 3
Name Alias	GABA(A) receptor, alpha 3
Location	Xq28
Position	chrX:152166234-152451358, -1
External Links	HGNC: 4077 Entrez Gene: 2556 Ensembl: ENSG00000011677 UCSC: uc010ntk.1
No. of Studies	3 (Positive: 1; Negative: 2; trend: 0)
Overlap with SZ?	NO
Overlap with MDD?	YES

Gene related studies (count: 3)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Puertollano, R.,1995	Other variant: GABRA3_(AC)n	We have not found significant differences between controls and patients in allele frequencies or genotypes	Negative	Comment on Study
Massat, I.,2002(a)	Other variant: GABRA3_CA repeat	Our findings suggest that the GABRA3 polymorphism may confer susceptibility to or may be in linkage disequilibrium with another gene involved in the genetic etiology of BPAD.	Positive	Comment on Study
Duffy, A.,2000	Other variant: GABRA3_GDB156286	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: 15)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0004890	GABA-A receptor activity	molecular function	IEA	11
GO:0005887	integral component of plasma membrane	cellular component	TAS[8391122]	158
GO:0007268	synaptic transmission	biological process	TAS	116
GO:0045211	postsynaptic membrane	cellular component	IEA	68
GO:0005254	chloride channel activity	molecular function	IEA	12
GO:0005886	plasma membrane	cellular component	TAS	360

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0034707	chloride channel complex	cellular component	IEA	13
GO:0006810	transport	biological process	TAS[8391122]	47
GO:0055085	transmembrane transport	biological process	TAS	77
GO:0034220	ion transmembrane transport	biological process	TAS	50
GO:0008503	benzodiazepine receptor activity	molecular function	TAS[8391122]	4
GO:0005230	extracellular ligand-gated ion channel activity	molecular function	IEA	11
GO:1902476	chloride transmembrane transport	biological process	IEA	16
GO:0030054	cell junction	cellular component	IEA	88
GO:0007214	gamma-aminobutyric acid signaling pathway	biological process	IEA	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: 2)

ID	Name	No. of Genes in BDgene	Brief Description
flumazenilPathway	Cardiac Protection Against ROS	6
gabaPathway	Gamma-aminobutyric Acid Receptor Life Cycle	5

Gene related interactors from protein-protein interactions data in HPRD (count: 1)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
GABRA3	UBQLN1	NO	yeast 2-hybrid	11528422

Related other genetic factors

Gene related SNPs (count: 1)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs5925155	chrX:152289446 - 152289446(1)	intron_variant	1(1/0/0)

Gene related CNVs (count: 0)

Gene related other variants (count: 3)

Variant Name	Variant Type	No. of Studies (Positive/Negative/Trend)
GABRA3_CA repeat	microsatellite	1 (1/0/0)
GABRA3_GDB156286	VNTR	1 (0/1/0)
GABRA3_(AC)n	duplication	1 (0/1/0)

Gene related regions (count: 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
15048654	A significant difference of allelic frequencies was observed in female patients (n = 128) compared to female controls (n = 81) (P < or = 0.0001).	Pos	GABRA3

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Region: chrX:152166234..152451358 View in gBrowse