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	GNB3
Approved Name	guanine nucleotide binding protein (G protein), beta polypeptide 3
Location	12p13
Position	chr12:6839954-6847393, 1
External Links	HGNC: 4400 Entrez Gene: 2784 Ensembl: ENSG00000111664 UCSC: uc001qrd.3
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
Yosifova, A.,2009	SNP: rs5443	Significant association of SNP in this gene with BD in our population was observed.	Positive	Comment on Study
Kunugi, H.,2002	Other variant: GNB3_C825T	We obtained no evidence for an association of the polymorphism with any diagnostic group.	Negative	Comment on Study

Gene functional annotation

Gene related GO terms (count: 15)

GO terms by PBA (count: 3)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0004871	signal transducer activity	molecular function	IEA	32
GO:0005886	plasma membrane	cellular component	TAS	360
GO:0007268	synaptic transmission	biological process	TAS	116

GO terms by database search (count: 12)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0043005	neuron projection	cellular component	IEA	38
GO:0005515	protein binding	molecular function	IPI[23773523]	563
GO:0051020	GTPase binding	molecular function	IPI[19255495]	1
GO:0003924	GTPase activity	molecular function	TAS[9425898]	14
GO:0007186	G-protein coupled receptor signaling pathway	biological process	TAS[2107550]	64
GO:0044297	cell body	cellular component	IEA	4
GO:0008217	regulation of blood pressure	biological process	TAS[9425898]	12
GO:0030507	spectrin binding	molecular function	IEA	4
GO:0071377	cellular response to glucagon stimulus	biological process	TAS	7
GO:0070062	extracellular vesicular exosome	cellular component	IDA[23533145]	176
GO:0006112	energy reserve metabolic process	biological process	TAS	19
GO:0044281	small molecule metabolic process	biological process	TAS	117

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
hsa04742	Taste transduction	7

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 6)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
GNB3	GNG7	NO	yeast 2-hybrid	8636150
GNB3	GNG13	NO	in vivo	12454992
GNB3	TGFBR1	NO	in vivo	15761153
GNB3	GNG5	NO	yeast 2-hybrid	8636150
GNB3	GNG3	NO	yeast 2-hybrid	7822269 , 8550614 , 8636150
GNB3	GNG4	YES	yeast 2-hybrid	8636150 , 16884933

Related other genetic factors

Gene related SNPs (count: 4)

Literature-origin SNPs (count: 1)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs5443	chr12:6845711 - 6845711(1)	3_prime_UTR_variant; downstream_gene_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant; synonymous_variant	1(1/0/0)

LD-proxies (count: 3)

rs_ID	Location	Functional Annotation
rs2071058	chr12:6851729 - 6851729(1)	5_prime_UTR_variant; downstream_gene_variant; upstream_gene_variant
rs5446	chr12:6847298 - 6847298(1)	3_prime_UTR_variant; downstream_gene_variant; intron_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant; upstream_gene_variant
rs2301339	chr12:6845460 - 6845460(1)	3_prime_UTR_variant; downstream_gene_variant; intron_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant

Gene related CNVs (count: 0)

Gene related other variants (count: 1)

Variant Name	Variant Type	Location in Gene	No. of Studies (Positive/Negative/Trend)
GNB3_C825T	point mutation		1 (0/1/0)

Gene related regions (count: 2)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
Chr 12	chr12:0-133275309	3 (0/3/0)
12p13	chr12:0-14600000	1 (0/1/0)

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

Gene relationship with SZ

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

Reference	Description	Result Category
12075862	We obtained no evidence for an association of the polymorphism with any diagnostic group.	Negative

Overlap with SZ from candidate gene intersection analysis (count: 3)

Reference	ID in SZGene	Result Category
10884039	134	Positive
17521439	134	Negative
12075862	134	Negative

Gene relationship with MDD

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

Reference	Description	Category in MDD
12075862	We obtained no evidence for an association of the polymorphism with any diagnostic group.	Negative

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

Reference	Description	Category in MDD	Link in MK4MDD
12476328	We found a significant increase in the Gbeta3 T allele (OR = 1.61, 95% CI 1.17-2.2, P = 0.0035) and a marginal altered genotype distribution of the ACE ID polymorphism with decrease in the II genotypes (chi(2) = 6.43, df=3, P = 0.04) in the patients' group. Analysing the data for both genes we found that the combined actions of ACE and Gbeta3 genotypes accumulate in carriers of the ACE D allele (ID and DD) and Gbeta3 TT homozygotes with ID/DD-TT carriers showing a more than five-fold increase in risk for major depression (crude OR = 5.83, 95% CI 1.99-17.08, P = 0.0002).	Pos	GNB3

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Region: chr12:6839954..6847393 View in gBrowse