Gene Report

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Basic Info

Approved Symbol	GABRB1
Approved Name	gamma-aminobutyric acid (GABA) A receptor, beta 1
Name Alias	GABA(A) receptor, beta 1
Location	4p12
Position	chr4:46993723-47426444, 1
External Links	HGNC: 4081 Entrez Gene: 2560 Ensembl: ENSG00000163288 UCSC: uc003gxh.3
No. of Studies	3 (Positive: 2; Negative: 0; trend: 1)
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
Hamshere, M. L.,2009	SNP: rs4279178, rs7680321	the nearest gene of one independently associated SNP rs7680321 that exceed a significance threshold of P-value E-05(all of which have good quality clusterplots)	Trend	Comment on Study
Craddock, N., 2010	SNP: rs7680321 Other variant: rs6414684	logistic regression for gene-wide P-value = 0.0039. gene-wide levels of statistical significance in RDC SABP samples, but not other subsets of samples.	Positive	Comment on Study
Puertollano, R., 1997	Other variant: GABRb1_(GATA)n	Although our results do not reveal a clear evidence for association between manic-depressive illness and GABR beta1, we have found significant differences between patients and controls in the female subpopulation.	Positive	Comment on Study

Gene functional annotation

Gene related GO terms (count: 18)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0045211	postsynaptic membrane	cellular component	IEA	68
GO:0004890	GABA-A receptor activity	molecular function	ISS	11
GO:0005887	integral component of plasma membrane	cellular component	ISS	158
GO:0005886	plasma membrane	cellular component	TAS	360
GO:0005254	chloride channel activity	molecular function	IEA	12
GO:0007268	synaptic transmission	biological process	TAS	116
GO:0006811	ion transport	biological process	ISS	18

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0071420	cellular response to histamine	biological process	ISS	5
GO:0007165	signal transduction	biological process	TAS[2465923]	136
GO:0015276	ligand-gated ion channel activity	molecular function	ISS	7
GO:0034707	chloride channel complex	cellular component	IEA	13
GO:0006810	transport	biological process	TAS[2465923]	47
GO:0034220	ion transmembrane transport	biological process	TAS	50
GO:1902476	chloride transmembrane transport	biological process	IEA	16
GO:0055085	transmembrane transport	biological process	TAS	77
GO:0005230	extracellular ligand-gated ion channel activity	molecular function	IEA	11
GO:1902711	GABA-A receptor complex	cellular component	ISS	3
GO:0030054	cell junction	cellular component	IEA	88

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: 0)

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

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
GABRB1	ARFGEF2	NO	yeast 2-hybrid	15198677
GABRB1	C1QBP	NO	yeast 2-hybrid	11350968
GABRB1	PIK3CA	NO	in vivo	11606067
GABRB1	AKAP5	YES	in vitro	12595241

Related other genetic factors

Gene related SNPs (count: 18)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs7680321	chr4:47143090 - 47143090(1)	intron_variant; NMD_transcript_variant	2(1/0/1)
rs3934674	chr4:47011121 - 47011121(1)	intron_variant	1(1/0/0)
rs4279178	chr4:47066563 - 47066563(1)	intron_variant; NMD_transcript_variant	2(1/0/1)

rs_ID	Location	Functional Annotation
rs1442099	chr4:47144082 - 47144082(1)	intron_variant; NMD_transcript_variant
rs4645195	chr4:47083300 - 47083300(1)	intron_variant; NMD_transcript_variant
rs7680746	chr4:47127241 - 47127241(1)	intron_variant; NMD_transcript_variant
rs6824550	chr4:47071078 - 47071078(1)	intron_variant; NMD_transcript_variant
rs13105212	chr4:47118772 - 47118772(1)	intron_variant; NMD_transcript_variant
rs3934675	chr4:47011092 - 47011092(1)	intron_variant
rs7666212	chr4:47131599 - 47131599(1)	intron_variant; NMD_transcript_variant
rs13113746	chr4:47005872 - 47005872(1)	intron_variant
rs9291304	chr4:47127439 - 47127439(1)	intron_variant; NMD_transcript_variant
rs6447534	chr4:47135864 - 47135864(1)	intron_variant; NMD_transcript_variant
rs13139021	chr4:47004382 - 47004382(1)	intron_variant
rs4501194	chr4:47134179 - 47134179(1)	intron_variant; NMD_transcript_variant
rs1442101	chr4:47141940 - 47141940(1)	intron_variant; NMD_transcript_variant
rs4600895	chr4:47067242 - 47067242(1)	intron_variant; NMD_transcript_variant
rs3906823	chr4:47140201 - 47140201(1)	intron_variant; NMD_transcript_variant

Gene related CNVs (count: 0)

Gene related other variants (count: 2)

Variant Name	Variant Type	Location in Gene	No. of Studies (Positive/Negative/Trend)
GABRb1_(GATA)n	tetranucleotide repeat		1 (1/0/0)
rs6414684	point mutation		1 (1/0/0)

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

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	GABRB1
17353912	Selected differentially expressed genes in BA24	Pos	GABRB1

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Region: chr4:46993723..47426444 View in gBrowse