BDgene

Core Gene from Gene Prioritization Pathways from PBA (Pathway-based Analysis) Enriched Pathways for Core Genes Enriched Pathways for Cross-disorder Genes

Search Gene with Disease Search Gene1 with Disease

Gene Report

Basic information

Related studies

Functional annotation

Related other genetic factors

Overlap with SZ and MDD

ADD to My Gene Set

Comment on Gene

View All Comments on Gene

Basic Info

Approved Symbol	GABRA5
Approved Name	gamma-aminobutyric acid (GABA) A receptor, alpha 5
Name Alias	GABA(A) receptor, alpha 5
Location	15q12
Position	chr15:26866363-26949207, 1
External Links	HGNC: 4079 Entrez Gene: 2558 Ensembl: ENSG00000186297 UCSC: uc021sgi.1
No. of Studies	6 (Positive: 6; Negative: 0; trend: 0)
Overlap with SZ?	YES
Overlap with MDD?	YES

Gene related studies (count: 6)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Papadimitriou, G. N., 1998	Other variant: GABRA5_(CA)n	The distribution of allelic frequencies of the GABRA5 locus differed significantly between BP patients and controls with the 282-bp allele found to be associated with BP affective disorder.	Positive	Comment on Study
Duffy, A.,2000	Other variant: GABRA5_GDB162554	In conclusion, our study does not support the hypothesis that genes coding for CRH or PENK contribute to the genetic susceptibility to bipolar disorder.	Positive	Comment on Study
Otani, K.,2005(a)	SNP: rs140681, rs140683, rs6606854 Haplotype: rs140681 - rs140683(A-A), rs140681 - rs140683(A-T), rs140681 - rs140683(G-A), rs140681 - rs140683(G-T) Other variant: GABRA5_+11547_(CA)n	These results suggest that the GABRA5 gene may confer susceptibility to bipolar I disorder.	Positive	Comment on Study
Yosifova, A.,2009	SNP: rs140681	Significant association of SNP in this gene with BD in our population was observed.	Positive	Comment on Study
Oruc, L., 1997 ( c)	Other variant: GABRA5_3'UTR_1-8 allele	ln the view of thesc observations, our data could be explained by assuming that allele 4 of the GABRA5 gene polymorphism confers a higher risk to UPR major depression but not necessarily to BPI disorder which combines major depression with manic episodes.	Positive	Comment on Study
Craddock, N., 2010	SNP: rs17561681	set-based analysis for gene-wide P-value = 0.0024. 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: 30)

GO terms by PBA (count: 9)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0005254	chloride channel activity	molecular function	IEA	12
GO:0005887	integral component of plasma membrane	cellular component	TAS[1321750]	158
GO:0004872	receptor activity	molecular function	TAS[1321750]	19
GO:0007420	brain development	biological process	IEA	25
GO:0005886	plasma membrane	cellular component	TAS	360
GO:0045211	postsynaptic membrane	cellular component	IEA	68
GO:0004890	GABA-A receptor activity	molecular function	IEA	11
GO:0043235	receptor complex	cellular component	IEA	20
GO:0007268	synaptic transmission	biological process	TAS	116

GO terms by database search (count: 21)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0005230	extracellular ligand-gated ion channel activity	molecular function	IEA	11
GO:0030054	cell junction	cellular component	IEA	88
GO:0055085	transmembrane transport	biological process	TAS	77
GO:1903146	regulation of mitochondrion degradation	biological process	IMP[22020285]	5
GO:0034707	chloride channel complex	cellular component	IEA	13
GO:1902476	chloride transmembrane transport	biological process	IEA	16
GO:0034220	ion transmembrane transport	biological process	TAS	50
GO:0060384	innervation	biological process	IEA	3
GO:0006810	transport	biological process	TAS[1321750]	47
GO:0060119	inner ear receptor cell development	biological process	IEA	4
GO:0032809	neuronal cell body membrane	cellular component	IEA	3
GO:0007605	sensory perception of sound	biological process	IEA	18
GO:0050811	GABA receptor binding	molecular function	IEA	2
GO:0008306	associative learning	biological process	IEA	8
GO:0043524	negative regulation of neuron apoptotic process	biological process	IEA	26
GO:0007165	signal transduction	biological process	TAS[1321750]	136
GO:0007214	gamma-aminobutyric acid signaling pathway	biological process	IEA	15
GO:0005215	transporter activity	molecular function	TAS[1321750]	8
GO:0090102	cochlea development	biological process	IEA	7
GO:0030425	dendrite	cellular component	IEA	65
GO:0001662	behavioral fear response	biological process	IEA	16

Gene related KEGG pathways (count: 1)

KEGG pathways by PBA (count: 0)

KEGG pathways by database search (count: 1)

ID	Name	No. of Genes in BDgene	Brief Description
hsa04080	Neuroactive ligand-receptor interaction	92

Gene related BioCarta pathways (count: 2)

BioCarta pathways by PBA (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

BioCarta pathways by database search (count: 0)

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

Related other genetic factors

Gene related SNPs (count: 6)

Literature-origin SNPs (count: 4)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs17561681	chr15:26933328 - 26933328(1)	intron_variant	1(1/0/0)
rs6606854	chr15:26914049 - 26914049(1)	intron_variant; non_coding_transcript_variant	1(0/1/0)
rs140681	chr15:26937065 - 26937065(1)	intron_variant	2(2/0/0)
rs140683	chr15:26943188 - 26943188(1)	intron_variant; upstream_gene_variant	1(0/1/0)

LD-proxies (count: 2)

rs_ID	Literature-origin SNPs with LD	Location	Functional Annotation
rs11263717		chr15:26952808 - 26952808(1)	downstream_gene_variant
rs1864793		chr15:26938442 - 26938442(1)	downstream_gene_variant; intron_variant

Gene related CNVs (count: 0)

Gene related other variants (count: 4)

Variant Name	Variant Type	No. of Studies (Positive/Negative/Trend)
GABRA5_(CA)n	polymorphic dinucleotide repeat marker	1 (1/0/0)
GABRA5_GDB162554	VNTR	1 (1/0/0)
GABRA5_+11547_(CA)n	microsatellite	1 (0/1/0)
GABRA5_3'UTR_1-8 allele	others	1 (1/0/0)

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

Overlap with SZ from cross-disorder studies (count: 0)

Overlap with SZ from candidate gene intersection analysis (count: 1)

Reference	ID in SZGene	Result Category
11287792	167	Negative

Gene relationship with MDD

Overlap with MDD from cross-disorder studies (count: 2)

Reference	Description	Category in MDD
9267853	ln the view of these observations, our data could be explained by assuming that allele 4 of the GABRA5 gene polymorphism confers a higher risk to UPR major depression but not necessarily to BPI disorder which combines major depression with manic episodes.	Positive
9514592	The distribution of allelic frequencies of the GABRA5 locus differed significantly between BP patients and controls with the 282-bp allele found to be associated with BP affective disorder, while no such difference was observed between the groups of UP patients and controls nor between the two patient groups.	Positive

Overlap with MDD from candidate gene intersection analysis (count: 1)

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	GABRA5

View in gBrowse

Region: chr15:26866363..26949207 View in gBrowse