Gene Report

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Basic Info

Approved Symbol	GABRA4
Approved Name	gamma-aminobutyric acid (GABA) A receptor, alpha 4
Name Alias	GABA(A) receptor, alpha 4
Location	4p12
Position	chr4:46918900-46994407, -1
External Links	HGNC: 4078 Entrez Gene: 2557 Ensembl: ENSG00000109158 UCSC: uc021xnz.1
No. of Studies	2 (Positive: 2; Negative: 0; trend: 0)
Overlap with SZ?	NO
Overlap with MDD?	NO

Gene related studies (count: 2)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Ament, S. A., 2015		P-value=0.0011, OR=14.9. No individual gene had a significant burden of segregating rare variants in BD pedigrees after correcting for multiple tests, although several genes had suggestive trends.	Positive	Comment on Study
Craddock, N., 2010	SNP: rs3934674	logistic regression for gene-wide P-value = 0.013. 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: 17)

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[8719416]	158
GO:0005254	chloride channel activity	molecular function	IEA	12
GO:0007417	central nervous system development	biological process	IEA	21
GO:0045211	postsynaptic membrane	cellular component	IEA	68
GO:0007268	synaptic transmission	biological process	TAS	116
GO:0005886	plasma membrane	cellular component	TAS	360

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0034220	ion transmembrane transport	biological process	TAS	50
GO:0030054	cell junction	cellular component	IEA	88
GO:0055085	transmembrane transport	biological process	TAS	77
GO:1902476	chloride transmembrane transport	biological process	IEA	16
GO:0006810	transport	biological process	TAS[8719416]	47
GO:2001023	regulation of response to drug	biological process	IEA	1
GO:0008503	benzodiazepine receptor activity	molecular function	TAS[8719416]	4
GO:0005230	extracellular ligand-gated ion channel activity	molecular function	IEA	11
GO:0007214	gamma-aminobutyric acid signaling pathway	biological process	IEA	15
GO:0034707	chloride channel complex	cellular component	IEA	13

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
gabaPathway	Gamma-aminobutyric Acid Receptor Life Cycle	5
flumazenilPathway	Cardiac Protection Against ROS	6

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

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
GABRA4	PRKCG	NO	in vivo	12091471

Related other genetic factors

Gene related SNPs (count: 1)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs3934674	chr4:47011121 - 47011121(1)	intron_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 4	chr4:0-190214555	3 (0/3/0)
4p	chr4:0-50000000	1 (0/1/0)

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

Gene relationship with SZ

Gene relationship with MDD

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Region: chr4:46918900..46994407 View in gBrowse