BDgene

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

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Gene Report

Basic information

Related studies

Functional annotation

Related other genetic factors

Overlap with SZ and MDD

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Basic Info

Approved Symbol	GABRA1
Symbol Alias	EJM5
Approved Name	gamma-aminobutyric acid (GABA) A receptor, alpha 1
Name Alias	GABA(A) receptor, alpha 1
Location	5q34
Position	chr5:161847063-161899981, 1
External Links	HGNC: 4075 Entrez Gene: 2554 Ensembl: ENSG00000022355 UCSC: uc003lyx.4
No. of Studies	2 (Positive: 1; Negative: 1; trend: 0)
Overlap with SZ?	YES
Overlap with MDD?	YES

Gene related studies (count: 2)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Horiuchi, Y.,2004	SNP: rs2279020 Other variant: GABRA1_-181A/G, GABRA1_-471T/C, GABRA1_IVS9+76A/G, rs1129647, GABRA1_IVS2-712(GT)n	These results indicate that the GABRA1 gene may play a role in the etiology of bipolar disorders.	Positive	Comment on Study
Yosifova, A.,2011	SNP: rs11951528, rs4317369	No significant association of this gene was observed in BD.	Negative	Comment on Study

Gene functional annotation

Gene related GO terms (count: 19)

GO terms by PBA (count: 6)

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

GO terms by database search (count: 13)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0055085	transmembrane transport	biological process	TAS	77
GO:1902476	chloride transmembrane transport	biological process	IEA	16
GO:0005230	extracellular ligand-gated ion channel activity	molecular function	IEA	11
GO:0007214	gamma-aminobutyric acid signaling pathway	biological process	IEA	15
GO:0034220	ion transmembrane transport	biological process	TAS	50
GO:0051932	synaptic transmission, GABAergic	biological process	ISS	2
GO:0030054	cell junction	cellular component	IEA	88
GO:0008144	drug binding	molecular function	ISS	21
GO:0016917	GABA receptor activity	molecular function	ISS	1
GO:0071420	cellular response to histamine	biological process	IEA	5
GO:1902710	GABA receptor complex	cellular component	ISS	1
GO:0034707	chloride channel complex	cellular component	IEA	13
GO:0006810	transport	biological process	TAS[2465923]	47

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

BioCarta pathways by database search (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 4)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
GABRA1	PPP3CA	NO	in vitro	12574411
GABRA1	PRKCG	NO	in vivo	12091471
GABRA1	PRKCD	NO	in vivo	12091471
GABRA1	DRD4	YES	in vitro	10050966

Related other genetic factors

Gene related SNPs (count: 3)

Literature-origin SNPs (count: 3)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs2279020	chr5:161895883 - 161895883(1)	downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant	1(0/1/0)
rs11951528	chr5:161790470 - 161790470(1)		1(0/1/0)
rs4317369	chr5:161801368 - 161801368(1)		1(0/1/0)

LD-proxies (count: 0)

Gene related CNVs (count: 0)

Gene related other variants (count: 5)

Variant Name	Variant Type	No. of Studies (Positive/Negative/Trend)
GABRA1_-181A/G	point mutation	1 (0/1/0)
rs1129647	point mutation	1 (1/0/0)
GABRA1_-471T/C	point mutation	1 (0/1/0)
GABRA1_IVS2-712(GT)n	microsatellite	1 (1/0/0)
GABRA1_IVS9+76A/G	point mutation	1 (0/1/0)

Gene related regions (count: 2)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
Chr 5	chr5:0-181538259	3 (0/2/1)
5q33-34	chr5:150400000-169000000	1 (1/0/0)

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: 3)

Reference	ID in SZGene	Result Category
16172613	326	Positive
15993854	326	Positive
14699426	326	Negative

Gene relationship with MDD

Overlap with MDD from cross-disorder studies (count: 1)

Reference	Description	Category in MDD
14706423	No significant association was reported in this study.	Negative

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

Reference	Description	Category in MDD	Link in MK4MDD
17353912	Selected differentially expressed genes in BA24	Pos	GABRA1

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Region: chr5:161847063..161899981 View in gBrowse