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	GNA12
Symbol Alias	gep
Approved Name	guanine nucleotide binding protein (G protein) alpha 12
Location	7p22.3
Position	chr7:2728112-2844324, -1
External Links	HGNC: 4380 Entrez Gene: 2768 Ensembl: ENSG00000146535 UCSC: uc003smu.4
No. of Studies	1 (Positive: 1; Negative: 0; trend: 0)
Overlap with SZ?	NO
Overlap with MDD?	NO

Gene related studies (count: 1)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Hattori, E.,2009	SNP: rs798528	After the two-stage analysis, markers in this gene remained nominally significant (allelic P<0.05) with the same allele being consistently over-represented in both the first and the follow-up stages.	Positive	Comment on Study

Gene functional annotation

Gene related GO terms (count: 25)

GO terms by PBA (count: 3)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0030154	cell differentiation	biological process	IEA	31
GO:0005886	plasma membrane	cellular component	TAS	360
GO:0004871	signal transducer activity	molecular function	IBA	32

GO terms by database search (count: 22)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0030168	platelet activation	biological process	TAS	22
GO:0007266	Rho protein signal transduction	biological process	IBA	4
GO:0008360	regulation of cell shape	biological process	IEA	16
GO:0001701	in utero embryonic development	biological process	IEA	17
GO:0005834	heterotrimeric G-protein complex	cellular component	IBA	6
GO:0003924	GTPase activity	molecular function	IBA	14
GO:0032006	regulation of TOR signaling	biological process	IMP[22609986]	1
GO:0046872	metal ion binding	molecular function	IEA	115
GO:0005925	focal adhesion	cellular component	IDA[21423176]	32
GO:0007188	adenylate cyclase-modulating G-protein coupled receptor signaling pathway	biological process	IBA	10
GO:0007596	blood coagulation	biological process	TAS	44
GO:0031683	G-protein beta/gamma-subunit complex binding	molecular function	IBA	6
GO:0007186	G-protein coupled receptor signaling pathway	biological process	TAS[8290554]	64
GO:0032434	regulation of proteasomal ubiquitin-dependent protein catabolic process	biological process	IMP[22609986]	1
GO:0042733	embryonic digit morphogenesis	biological process	IEA	6
GO:0031526	brush border membrane	cellular component	IBA	5
GO:0005525	GTP binding	molecular function	IEA	20
GO:0042493	response to drug	biological process	IEA	57
GO:0008152	metabolic process	biological process	IBA; IEA; TAS[8290554]	50
GO:0005515	protein binding	molecular function	IPI[10026210]	563
GO:0010762	regulation of fibroblast migration	biological process	ISS	1
GO:0031752	D5 dopamine receptor binding	molecular function	IBA	2

Gene related KEGG pathways (count: 3)

KEGG pathways by PBA (count: 2)

ID	Name	No. of Genes in BDgene	Brief Description
hsa04730	Long-term depression	15
hsa04010	MAPK signaling pathway	39

KEGG pathways by database search (count: 1)

ID	Name	No. of Genes in BDgene	Brief Description
hsa04810	Regulation of actin cytoskeleton	24

Gene related BioCarta pathways (count: 3)

BioCarta pathways by PBA (count: 0)

BioCarta pathways by database search (count: 3)

ID	Name	No. of Genes in BDgene
akap13Pathway	Rho-Selective Guanine Exchange Factor AKAP13 Mediates Stress Fiber Formation	2
myosinPathway	PKC-catalyzed phosphorylation of inhibitory phosphoprotein of myosin phosphatase	2
Par1Pathway	Thrombin signaling and protease-activated receptors	4

Gene related interactors from protein-protein interactions data in HPRD (count: 22)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
GNA12	S1PR4	NO	in vitro	12761884
GNA12	TBXA2R	NO	in vivo	8290554
GNA12	TSHR	YES	in vitro	8552586
GNA12	CDH2	NO	in vitro;yeast 2-hybrid	11136230
GNA12	DRD5	YES	in vivo	12623966
GNA12	CDH1	NO	in vitro;yeast 2-hybrid	11136230
GNA12	GNA13	NO	in vivo	10026210
GNA12	F2R	NO	in vivo	8290554
GNA12	S1PR5	NO	in vitro	11069896
GNA12	PRKCA	NO	in vitro;in vivo	8647866
GNA12	TEC	NO	in vivo	12515866
GNA12	ACTB	NO	in vivo	10787407
GNA12	HSP90AA1	YES	in vitro;in vivo;yeast 2-hybrid	12117999 , 11598136
GNA12	ARHGEF11	NO	in vivo	10026210
GNA12	ARHGEF12	NO	in vitro;in vivo	12515866 , 11094164
GNA12	AKAP13	NO	in vitro;in vivo	14636890 , 11546812
GNA12	RASA2	NO	in vitro;in vivo	9796816
GNA12	GNB1	NO	in vitro	7829508
GNA12	BTK	NO	in vitro;in vivo	9796816
GNA12	NAPA	NO	in vitro;yeast 2-hybrid	15980433
GNA12	PPP2R1A	NO	in vitro;in vivo;yeast 2-hybrid	15525651
GNA12	PPP5C	NO	in vitro;in vivo;yeast 2-hybrid	12176367

Related other genetic factors

Gene related SNPs (count: 44)

Literature-origin SNPs (count: 1)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs798528	chr7:2732797 - 2732797(1)	intron_variant; non_coding_transcript_variant	1(1/0/0)

LD-proxies (count: 43)

rs_ID	Location	Functional Annotation
rs2644275	chr7:2814376 - 2814376(1)	intron_variant; missense_variant
rs798512	chr7:2742958 - 2742958(1)	intron_variant; non_coding_transcript_variant
rs2644312	chr7:2801530 - 2801530(1)	intron_variant
rs798518	chr7:2738191 - 2738191(1)	intron_variant; non_coding_transcript_variant
rs960273	chr7:2818242 - 2818242(1)	intron_variant; upstream_gene_variant
rs798502	chr7:2750246 - 2750246(1)	intron_variant; non_coding_transcript_variant
rs2644274	chr7:2814746 - 2814746(1)	intron_variant
rs798503	chr7:2750070 - 2750070(1)	intron_variant; non_coding_transcript_variant
rs2644296	chr7:2819427 - 2819427(1)	intron_variant; upstream_gene_variant
rs798499	chr7:2752379 - 2752379(1)	intron_variant; non_coding_transcript_variant
rs2644297	chr7:2819272 - 2819272(1)	intron_variant; upstream_gene_variant
rs798500	chr7:2751051 - 2751051(1)	intron_variant; non_coding_transcript_variant
rs1182199	chr7:2822908 - 2822908(1)	intron_variant
rs798497	chr7:2756323 - 2756323(1)	intron_variant; non_coding_transcript_variant
rs2644295	chr7:2820583 - 2820583(1)	intron_variant
rs798498	chr7:2756248 - 2756248(1)	intron_variant; non_coding_transcript_variant
rs798494	chr7:2758660 - 2758660(1)	intron_variant; non_coding_transcript_variant
rs7777484	chr7:2774637 - 2774637(1)	intron_variant; non_coding_transcript_variant
rs798495	chr7:2757633 - 2757633(1)	intron_variant; non_coding_transcript_variant
rs1182209	chr7:2768961 - 2768961(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant
rs798491	chr7:2760887 - 2760887(1)	intron_variant; non_coding_transcript_variant; upstream_gene_variant
rs2283779	chr7:2775506 - 2775506(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant
rs798492	chr7:2759550 - 2759550(1)	intron_variant; non_coding_transcript_variant
rs7807978	chr7:2775001 - 2775001(1)	intron_variant; non_coding_transcript_variant
rs798488	chr7:2762888 - 2762888(1)	intron_variant; non_coding_transcript_variant; start_lost; upstream_gene_variant
rs2266922	chr7:2785073 - 2785073(1)	intron_variant; non_coding_transcript_variant
rs798490	chr7:2761908 - 2761908(1)	intron_variant; non_coding_transcript_variant; upstream_gene_variant
rs2260230	chr7:2783352 - 2783352(1)	intron_variant; non_coding_transcript_variant
rs2527687	chr7:2798851 - 2798851(1)	intron_variant; upstream_gene_variant
rs798485	chr7:2763876 - 2763876(1)	intron_variant; non_coding_transcript_variant; upstream_gene_variant
rs2527684	chr7:2786288 - 2786288(1)	intron_variant; non_coding_transcript_variant
rs798486	chr7:2763403 - 2763403(1)	intron_variant; non_coding_transcript_variant; upstream_gene_variant
rs1636264	chr7:2824952 - 2824952(1)	intron_variant
rs1182197	chr7:2823655 - 2823655(1)	intron_variant
rs2158694	chr7:2823809 - 2823809(1)	intron_variant
rs2107964	chr7:2823940 - 2823940(1)	intron_variant
rs1713919	chr7:2825072 - 2825072(1)	intron_variant
rs1182196	chr7:2826844 - 2826844(1)	intron_variant
rs757791	chr7:2827662 - 2827662(1)	intron_variant
rs1182208	chr7:2769098 - 2769098(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant
rs798544	chr7:2723468 - 2723468(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant
rs1182198	chr7:2823272 - 2823272(1)	intron_variant
rs798536	chr7:2726749 - 2726749(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant

Gene related CNVs (count: 0)

Gene related other variants (count: 0)

Gene related regions (count: 1)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
Chr 7	chr7:0-159345973	3 (0/3/0)

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

Gene relationship with SZ

Gene relationship with MDD

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Region: chr7:2728112..2844324 View in gBrowse