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
Par1Pathway	Thrombin signaling and protease-activated receptors	4
akap13Pathway	Rho-Selective Guanine Exchange Factor AKAP13 Mediates Stress Fiber Formation	2
myosinPathway	PKC-catalyzed phosphorylation of inhibitory phosphoprotein of myosin phosphatase	2

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

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

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