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	RGS4
Previous Symbol	SCZD9
Approved Name	regulator of G-protein signaling 4
Previous Name	regulator of G-protein signalling 4, "schizophrenia disorder 9"
Location	1q23.3
Position	chr1:163068775-163076802, 1
External Links	HGNC: 10000 Entrez Gene: 5999 Ensembl: ENSG00000117152 UCSC: uc001gcl.4
No. of Studies	6 (Positive: 3; Negative: 2; trend: 1)
Overlap with SZ?	YES
Overlap with MDD?	YES

Gene related studies (count: 6)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Cordeiro, Q.,2005	Haplotype: RGS4_SNP1 - RGS4_SNP4 - RGS4_SNP17 - RGS4_SNP18(G-G-G-G) Other variant: RGS4_SNP1, RGS4_SNP18, RGS4_SNP4, RGS4_SNP7	In conclusion, association analyses using cases and community-based controls from Brazil did not support a putative association between RGS4 and SCZ, though separate analyses using family-based controls provided suggestive evidence. Parallel investigations using BD probands also provided suggestive evidence for an association between RGS4 polymorphisms and BD.	Positive	Comment on Study
Chowdari, K. V.,2002	Haplotype: (RGS4_SNP1) - (RGS4_SNP4) - (RGS4_SNP7) - (RGS4_SNP18)()	P-value < 0.0002 for estimated haplotype frequencies and significant association was found in BD-I.	Positive	Comment on Study
Prata, D. P., 2006	SNP: rs2661319, rs951436, rs951439 Other variant: RGS4_SNP1	Our work does not support an involvement of RGS4, PRODH, COMTand GRK3 genes in the aetiology of bipolar affective disorder 1 in the Scottish population.	Negative	Comment on Study
Jamain, S., 2014	SNP: rs12031354	It showed nominal evidence for association with BD.	Trend	Comment on Study
Fallin, M. D.,2005		3 SNP typed, Median D'=1, Median r<sup>2</sup> =0.36, 1 LD blocks, 0.95 block coverage, there exists SNP or haplotype nominal P-value < 0.01 in SZ and all SNP or haplotype P-value > 0.05 in BP.. This gene is not suggestive to BP.	Negative	Comment on Study
Li, Y.,2010	SNP: rs266131, rs2842030, rs951436, rs951439 Haplotype: rs951436 - rs951439 - rs266131 - rs2842030(G-G-A-G), rs951436 - rs951439 - rs266131 - rs2842030(G-G-A-T), rs951436 - rs951439 - rs266131 - rs2842030(G-G-G-T), rs951436 - rs951439 - rs266131 - rs2842030(T-A-A-G), rs951436 - rs951439 - rs266131 - rs2842030(T-G-A-T)	Our results provide further evidence to support RGS4 as a potential susceptible gene for bipolar disorder.	Positive	Comment on Study

Gene functional annotation

Gene related GO terms (count: 12)

GO terms by PBA (count: 3)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0005886	plasma membrane	cellular component	IBA	360
GO:0005634	nucleus	cellular component	IDA[10791963]	283
GO:0005516	calmodulin binding	molecular function	TAS[10747990]	20

GO terms by database search (count: 9)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0001965	G-protein alpha-subunit binding	molecular function	IEA	3
GO:0005096	GTPase activator activity	molecular function	IBA	19
GO:0043547	positive regulation of GTPase activity	biological process	IEA	30
GO:0008277	regulation of G-protein coupled receptor protein signaling pathway	biological process	TAS[10747990]	5
GO:0043234	protein complex	cellular component	IEA	27
GO:0005737	cytoplasm	cellular component	IBA; IDA[10791963]	322
GO:0005829	cytosol	cellular component	IEA	223
GO:0038032	termination of G-protein coupled receptor signaling pathway	biological process	IEA	7
GO:0000188	inactivation of MAPK activity	biological process	TAS[8602223]	3

Gene related KEGG pathways (count: 0)

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 10)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
RGS4	GNAQ	NO	in vitro	9660808 , 9405622
RGS4	GNAO1	NO	in vitro	9660808
RGS4	GNAI1	NO	in vitro	9660808 , 11507164
RGS4	PLCB1	NO	in vitro	11148035
RGS4	PTAFR	NO	in vitro	11297424
RGS4	COPB2	NO	in vitro;in vivo;yeast 2-hybrid	10982407
RGS4	COPB1	NO	in vivo;yeast 2-hybrid	10982407
RGS4	GNAI2	YES	in vitro	9660808
RGS4	ERBB3	NO	in vivo;yeast 2-hybrid	12840049
RGS4	CALM1	NO	in vivo	10747990

Related other genetic factors

Gene related SNPs (count: 11)

Literature-origin SNPs (count: 6)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs12031354	chr1:162892557 - 162892557(1)		1(0/0/1)
rs2661319	chr1:163069987 - 163069987(1)	intron_variant; non_coding_transcript_variant; upstream_gene_variant	1(1/0/0)
rs951436	chr1:163063552 - 163063552(1)		2(2/0/0)
rs266131	chr2:107480830 - 107480830(1)	intron_variant; non_coding_transcript_variant	1(0/1/0)
rs951439	chr1:163063901 - 163063901(1)	upstream_gene_variant	2(1/1/0)
rs2842030	chr1:163070705 - 163070705(1)	intron_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant; upstream_gene_variant	1(0/1/0)

LD-proxies (count: 5)

rs_ID	Location	Functional Annotation
rs2842028	chr1:163065741 - 163065741(1)	upstream_gene_variant
rs10917671	chr1:163069063 - 163069063(1)	intron_variant; non_coding_transcript_variant; upstream_gene_variant
rs6678136	chr1:163067527 - 163067527(1)	upstream_gene_variant
rs7515900	chr1:163068823 - 163068823(1)	5_prime_UTR_variant; upstream_gene_variant
rs12043369	chr1:163066690 - 163066690(1)	upstream_gene_variant

Gene related CNVs (count: 0)

Gene related other variants (count: 4)

Variant Name	Variant Type	No. of Studies (Positive/Negative/Trend)
RGS4_SNP18	point mutation	1 (0/1/0)
RGS4_SNP1	point mutation	2 (0/2/0)
RGS4_SNP4	point mutation	1 (0/1/0)
RGS4_SNP7	point mutation	1 (1/0/0)

Gene related regions (count: 4)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
1q23	chr1:156600000-165500000	1 (0/1/0)
1p32.1-q31.1	chr1:58500000-190800000	1 (0/1/0)
1q23.3	chr1:160500000-165500000	1 (0/0/1)
Chr 1	chr1:0-248956422	2 (0/2/0)

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

Gene relationship with SZ

Overlap with SZ from cross-disorder studies (count: 3)

Reference	Description	Result Category
12023979	No significant association of RGS4 gene was observed in SZ.	Negative
15660667	In conclusion, association between RGS4 polymorphisms and SCZ was not detected in the present analyses.	Negative
16380905	This gene is highly suggestive to SZ.	Positive

Overlap with SZ from candidate gene intersection analysis (count: 22)

Reference	ID in SZGene	Result Category
12023979	261	Negative
15660667	261	Negative
19937977	261	Negative
16176390	261	Positive
16526029	261	Negative
16082709	261	Negative
17410640	261	Positive
17515439	261	Positive
17092693	261	Negative
17722013	261	Trend
17006672	261	Positive
14755443	261	Positive
17055463	261	Positive
19158809	261	Positive
17408693	261	Negative
16380905	261	Positive
18198266	261	Negative
14732600	261	Positive
16904822	261	Negative
16508931	261	Negative
16604300	261	Negative
15274033	261	Trend

Gene relationship with MDD

Overlap with MDD from cross-disorder studies (count: 0)

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

Reference	Description	Category in MDD	Link in MK4MDD
21912391	genes significantly affected in female MDD subjects	Pos	RGS4

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Region: chr1:163068775..163076802 View in gBrowse