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	ESR1
Previous Symbol	ESR
Symbol Alias	NR3A1, Era
Approved Name	estrogen receptor 1
Location	6q24-q27
Position	chr6:151656691-152129619, 1
External Links	HGNC: 3467 Entrez Gene: 2099 Ensembl: ENSG00000091831 UCSC: uc003qon.4
No. of Studies	1 (Positive: 0; Negative: 1; trend: 0)
Overlap with SZ?	YES
Overlap with MDD?	YES

Gene related studies (count: 1)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Jones, I.,2000	Haplotype: (ESR1_XbaI polymorphism) - (ESR1_PvuII polymorphism)()	We could exclude these polymorphisms from an important contribution to susceptibility to bipolar disorder with a high level of confidence.	Negative	Comment on Study

Gene functional annotation

Gene related GO terms (count: 62)

GO terms by PBA (count: 7)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0016020	membrane	cellular component	NAS[11960618]	137
GO:0016021	integral component of membrane	cellular component	IEA	219
GO:0003707	steroid hormone receptor activity	molecular function	TAS[10749889]	10
GO:0005886	plasma membrane	cellular component	IDA[15569929]	360
GO:0003700	sequence-specific DNA binding transcription factor activity	molecular function	NAS[12552091]	66
GO:0005634	nucleus	cellular component	IDA[15569929]	283
GO:0005496	steroid binding	molecular function	ISS	4

GO terms by database search (count: 55)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0007204	positive regulation of cytosolic calcium ion concentration	biological process	ISS	21
GO:0071392	cellular response to estradiol stimulus	biological process	ISS	8
GO:0019899	enzyme binding	molecular function	IPI[12039952]	34
GO:0006351	transcription, DNA-templated	biological process	TAS[2040605]	103
GO:0001046	core promoter sequence-specific DNA binding	molecular function	IDA[15345745]	10
GO:0035327	transcriptionally active chromatin	cellular component	IDA[17505058]	1
GO:0007200	phospholipase C-activating G-protein coupled receptor signaling pathway	biological process	ISS	11
GO:0060749	mammary gland alveolus development	biological process	IEA	4
GO:0030520	intracellular estrogen receptor signaling pathway	biological process	NAS[3753802]	2
GO:0048386	positive regulation of retinoic acid receptor signaling pathway	biological process	IDA[15831516]	2
GO:0030518	intracellular steroid hormone receptor signaling pathway	biological process	ISS	2
GO:0002064	epithelial cell development	biological process	IEA	1
GO:0006367	transcription initiation from RNA polymerase II promoter	biological process	TAS	20
GO:0060750	epithelial cell proliferation involved in mammary gland duct elongation	biological process	IEA	1
GO:0060065	uterus development	biological process	IEA	1
GO:0043124	negative regulation of I-kappaB kinase/NF-kappaB signaling	biological process	IDA[16043358]	5
GO:0005515	protein binding	molecular function	IPI[10359819]	563
GO:0030235	nitric-oxide synthase regulator activity	molecular function	NAS[12389206]	4
GO:0034056	estrogen response element binding	molecular function	IDA[15345745]	2
GO:0032355	response to estradiol	biological process	IDA[15304487]	11
GO:0043401	steroid hormone mediated signaling pathway	biological process	IEA	10
GO:0043627	response to estrogen	biological process	IDA[11581164]	4
GO:0060527	prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis	biological process	IEA	3
GO:0001547	antral ovarian follicle growth	biological process	IEA	2
GO:0060068	vagina development	biological process	IEA	1
GO:0006355	regulation of transcription, DNA-templated	biological process	NAS[3753802]	62
GO:0051091	positive regulation of sequence-specific DNA binding transcription factor activity	biological process	IDA[10681512]	11
GO:0005654	nucleoplasm	cellular component	TAS	163
GO:0008134	transcription factor binding	molecular function	IPI[17505058]	28
GO:0005737	cytoplasm	cellular component	IDA[17505058]	322
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	biological process	IDA[11544182]	91
GO:0060523	prostate epithelial cord elongation	biological process	IEA	2
GO:0006338	chromatin remodeling	biological process	NAS[12351687]	8
GO:0042802	identical protein binding	molecular function	IPI[11265755]	44
GO:0060687	regulation of branching involved in prostate gland morphogenesis	biological process	IEA	2
GO:0045429	positive regulation of nitric oxide biosynthetic process	biological process	IDA[21937726]	13
GO:0000978	RNA polymerase II core promoter proximal region sequence-specific DNA binding	molecular function	IDA[12047722]	23
GO:0008270	zinc ion binding	molecular function	IEA	77
GO:0038052	estrogen-activated sequence-specific DNA binding RNA polymerase II transcription factor activity	molecular function	IGI[18722177]	1
GO:0005794	Golgi apparatus	cellular component	IEA	60
GO:0010629	negative regulation of gene expression	biological process	IDA[21695196]	12
GO:0043433	negative regulation of sequence-specific DNA binding transcription factor activity	biological process	IDA[10816575]	6
GO:0008209	androgen metabolic process	biological process	IEA	4
GO:0008584	male gonad development	biological process	IEA	4
GO:0030284	estrogen receptor activity	molecular function	NAS[3753802]	1
GO:0060745	mammary gland branching involved in pregnancy	biological process	IEA	1
GO:0010863	positive regulation of phospholipase C activity	biological process	ISS	1
GO:0001077	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription	molecular function	IDA[12047722]	18
GO:0008013	beta-catenin binding	molecular function	IPI[15304487]	14
GO:0048146	positive regulation of fibroblast proliferation	biological process	IEA	7
GO:0003682	chromatin binding	molecular function	IDA[17505058]	23
GO:0010467	gene expression	biological process	TAS	41
GO:0042981	regulation of apoptotic process	biological process	IEA	10
GO:0007165	signal transduction	biological process	TAS[10749889]	136
GO:0051000	positive regulation of nitric-oxide synthase activity	biological process	IDA[21937726]	5

Gene related KEGG pathways (count: 0)

Gene related BioCarta pathways (count: 4)

BioCarta pathways by PBA (count: 0)

BioCarta pathways by database search (count: 4)

ID	Name	No. of Genes in BDgene
mta3Pathway	Downregulated of MTA-3 in ER-negative Breast Tumors	2
her2Pathway	Role of ERBB2 in Signal Transduction and Oncology	7
EfpPathway	Estrogen-responsive protein Efp controls cell cycle and breast tumors growth	1
pelp1Pathway	Pelp1 Modulation of Estrogen Receptor Activity	2

Gene related interactors from protein-protein interactions data in HPRD (count: 182)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
ESR1	MMS19	NO	in vitro;yeast 2-hybrid	11279242
ESR1	PTPN1	NO	in vitro	7539106
ESR1	AKT1	YES	in vitro;in vivo	11139588
ESR1	AKAP13	NO	in vitro;in vivo	9627117
ESR1	TUBA1B	YES	in vivo	15556606
ESR1	ARNT	NO	in vitro	15837795
ESR1	SOS1	NO	in vitro	15173068
ESR1	ZBTB17	NO	in vitro	11117529
ESR1	EGFR	YES	in vitro	11887937
ESR1	NR2C1	NO	in vitro;in vivo	12093804
ESR1	CUL4B	NO	in vivo	17392787
ESR1	REXO4	NO	in vitro;yeast 2-hybrid	10908561
ESR1	PGR	NO	in vitro;in vivo;yeast 2-hybrid	12612073
ESR1	MVP	NO	in vitro;in vivo	9628887
ESR1	TRIP4	NO	in vitro;in vivo	10454579
ESR1	PRPF6	NO	in vivo	12039962
ESR1	JUN	NO	in vitro;in vivo	11477071
ESR1	POU2F1	NO	in vivo	10480874
ESR1	JUND	NO	in vitro	11477071
ESR1	THRB	NO	in vitro	9717844
ESR1	NCOA7	NO	in vivo	11971969
ESR1	PPARGC1B	YES	in vitro;yeast 2-hybrid	11854298
ESR1	RBM9	NO	in vivo	11875103
ESR1	TDG	YES	in vitro;in vivo;yeast 2-hybrid	12874288
ESR1	CTNNB1	NO	in vitro	15304487
ESR1	KIF1A	NO	yeast 2-hybrid	15604093
ESR1	TCF20	NO	in vitro;in vivo	15831449
ESR1	PNRC2	NO	in vivo;yeast 2-hybrid	11574675 , 15604093
ESR1	AKT2	NO	in vitro;in vivo	11507039 , 11139588 , 11432835 , 9528769
ESR1	SMARCA2	NO	in vivo	9099865
ESR1	TRIM28	NO	in vitro	9774463
ESR1	CITED1	NO	in vitro;in vivo	11581164
ESR1	ESR2	NO	in vitro;in vivo	9473491
ESR1	CHUK	NO	in vivo	15808510
ESR1	LCK	NO	in vitro;in vivo	7539106
ESR1	CEBPB	NO	in vivo	7651415
ESR1	DNTTIP2	NO	in vitro;in vivo;yeast 2-hybrid	15047147
ESR1	NCOA6	YES	yeast 2-hybrid	10866662
ESR1	SMAD3	NO	in vitro;in vivo	11555647
ESR1	PTPN6	NO	in vitro	7539106
ESR1	NRIP1	YES	in vitro	7641693
ESR1	PIK3R3	NO	in vivo	15001646
ESR1	BRCA1	NO	in vitro;in vivo	10334989 , 11244506 , 12400015
ESR1	CALM2	NO	in vivo	11981030
ESR1	BCAR1	NO	in vivo	15020686
ESR1	RELA	NO	in vitro	7651415
ESR1	DUT	NO	yeast 2-hybrid	15604093
ESR1	CALM1	NO	in vivo	11981030
ESR1	PAK6	NO	in vitro;in vivo	11773441
ESR1	STUB1	NO	in vivo	16037132
ESR1	UBE2I	NO	yeast 2-hybrid	15666801
ESR1	WIPI1	NO	in vitro	15602573
ESR1	CHD9	NO	in vitro	16554032
ESR1	RNF14	NO	in vitro;in vivo	10085091
ESR1	THRA	YES	in vitro;yeast 2-hybrid	9717844
ESR1	MED1	NO	in vitro;in vivo	9653119
ESR1	MNAT1	NO	in vitro	12527756 , 10949034 , 8308015
ESR1	POLR1B	NO	in vitro	11953755
ESR1	MED24	NO	in vitro	9653119
ESR1	ERBB2	YES	in vitro;in vivo	15173068
ESR1	RPS6KA1	NO	in vitro;in vivo	12093745 , 9528769 , 11507039 , 11139588 , 11432835
ESR1	DDX54	NO	in vitro;yeast 2-hybrid	12466272
ESR1	SP3	NO	in vitro;in vivo	10816575
ESR1	STAT5A	NO	in vitro;in vivo	15304355
ESR1	JUNB	NO	in vitro	11477071
ESR1	TRIM59	NO	in vitro;in vivo;yeast 2-hybrid	15941852
ESR1	LOH3CR2A	NO	in vitro;yeast 2-hybrid	15474036
ESR1	FOXO4	NO	in vitro	11435445
ESR1	CSNK2B	YES	in vitro	7838153
ESR1	GRB2	NO	in vitro;in vivo	15173068
ESR1	STRN	NO	in vitro;in vivo;yeast 2-hybrid	15569929
ESR1	RLIM	NO	in vitro;in vivo	19117995
ESR1	NPPA	NO	yeast 2-hybrid	15604093
ESR1	MKNK2	NO	yeast 2-hybrid	11013076
ESR1	ZBTB16	NO	in vitro	14521715
ESR1	NCOA1	NO	in vitro	9427757 , 11165056
ESR1	HEXIM1	NO	in vivo	15940264
ESR1	DDX5	NO	in vivo;yeast 2-hybrid	12738788
ESR1	PTGES3	NO	in vivo	10207098
ESR1	HNF4A	YES	in vitro;yeast 2-hybrid	9717844
ESR1	AR	NO	in vitro	12389206
ESR1	ZNF398	NO	in vitro;yeast 2-hybrid	11779858
ESR1	MAPK14	NO	in vitro;in vivo	12138194
ESR1	NFKB1	NO	in vitro	7651415
ESR1	RBM39	NO	in vitro	11704680
ESR1	RGS3	NO	in vitro;in vivo	12198596
ESR1	PRKACA	NO	in vitro	9891036
ESR1	RARA	NO	in vitro;yeast 2-hybrid	9717844 , 17641689
ESR1	PSMC5	NO	in vitro;in vivo;yeast 2-hybrid	8598193 , 14702340
ESR1	POU4F1	NO	in vitro;in vivo;yeast 2-hybrid	9448000
ESR1	COBRA1	NO	in vitro;in vivo	15342491
ESR1	XBP1	YES	in vitro;in vivo	12954762
ESR1	EIF3I	NO	yeast 2-hybrid	10706629
ESR1	FOXO3	YES	in vitro;yeast 2-hybrid	11435445
ESR1	HSP90AA1	YES	in vivo	11911945
ESR1	TAF10	NO	in vitro	7923369
ESR1	NR0B1	NO	in vitro	11053406
ESR1	PIAS3	NO	in vitro;in vivo	11117529
ESR1	HSPA4	NO	in vivo	15556606
ESR1	SAFB	NO	in vitro;in vivo	10707955
ESR1	CAV1	NO	in vitro	11563984
ESR1	NCOA3	NO	in vitro	11050174 , 15145444 , 11353774
ESR1	NR2F6	NO	in vitro	10713182
ESR1	BCAS2	NO	in vitro;in vivo;yeast 2-hybrid	15694360
ESR1	TAP1	NO	in vitro	9774463
ESR1	FLII	NO	in vitro;in vivo	14966289
ESR1	FHL2	NO	yeast 2-hybrid	15666801
ESR1	POLR2D	NO	yeast 2-hybrid	15604093
ESR1	PRDM2	NO	in vivo;yeast 2-hybrid	10706618
ESR1	RPS6KA3	NO	in vitro;in vivo	11507039 , 11139588 , 11432835 , 9528769
ESR1	MAPK3	NO	in vitro;in vivo	12118371
ESR1	PIK3R1	YES	in vivo	11689445
ESR1	SMARCD3	NO	in vitro	14701856
ESR1	SLC30A9	NO	in vitro;in vivo	15988012
ESR1	TSC2	NO	in vitro;in vivo	15851513
ESR1	MPG	NO	in vitro;in vivo	14761960
ESR1	TRRAP	YES	in vitro	11931763 , 16260778
ESR1	CUEDC2	NO	in vitro	17347654
ESR1	SMARCA4	NO	in vivo;yeast 2-hybrid	9099865
ESR1	PAK1	NO	in vitro;in vivo	12374744
ESR1	PPARGC1A	NO	in vitro;in vivo	10748020
ESR1	SREBF1	NO	in vitro;in vivo	12021179
ESR1	GADD45G	NO	in vitro	10872826
ESR1	NR0B2	NO	in vitro;in vivo	11861507 , 9773978
ESR1	TUBB	YES	in vivo	15556606
ESR1	PIAS1	NO	yeast 2-hybrid	15666801
ESR1	SHC1	NO	in vitro;in vivo	11773443
ESR1	IGF1R	NO	in vivo	10749889 , 16113100
ESR1	NSD1	NO	in vivo;yeast 2-hybrid	9628876
ESR1	KAT5	YES	in vitro;in vivo	16260778
ESR1	ISL1	NO	in vitro;in vivo	11043578
ESR1	CCNH	NO	in vivo	12527756
ESR1	EP300	NO	in vitro;in vivo	11782371
ESR1	GNAI1	NO	in vitro;in vivo	11369763
ESR1	ATAD2	NO	in vitro;in vivo	17998543
ESR1	ARHGEF15	NO	yeast 2-hybrid	15604093
ESR1	SRC	NO	in vitro;yeast 2-hybrid	7539106 , 12736255 , 15140878
ESR1	NR2F1	NO	in vitro;in vivo;yeast 2-hybrid	12093745
ESR1	PHB2	NO	in vitro	10938099 , 15140878
ESR1	NCOR1	NO	in vitro	12145334
ESR1	ESRRA	NO	in vitro	9058380
ESR1	MAPK1	NO	in vitro;in vivo	12093745 , 9528769
ESR1	CCND1	NO	in vitro;in vivo;yeast 2-hybrid	9039267 , 11073968
ESR1	GADD45B	NO	in vitro	10872826
ESR1	NR2C2	NO	in vitro	11844790
ESR1	TP53	NO	in vitro	10766163
ESR1	PRMT1	NO	in vitro	11050077
ESR1	TBP	YES	in vivo	11595744
ESR1	USF1	NO	in vitro	15111769
ESR1	SMARCE1	NO	in vitro	12145209
ESR1	MDM2	NO	in vitro	10766163 , 11178989
ESR1	CDKN1A	NO	in vitro	17911387
ESR1	BAG1	NO	in vivo	8524784
ESR1	GTF2B	NO	in vitro	7641693 , 9841876
ESR1	MLL2	NO	in vitro	16603732
ESR1	SMAD4	NO	in vivo;yeast 2-hybrid	11555647 , 12576474
ESR1	CCNT1	NO	in vitro;in vivo	15940264
ESR1	TNFRSF14	NO	in vivo	12093804
ESR1	FOXO1	NO	in vitro;in vivo;yeast 2-hybrid	11435445 , 11353774
ESR1	CDK7	NO	in vivo	15461668
ESR1	RBM23	YES	in vitro	15694343
ESR1	NCOA2	NO	in vitro	11937504
ESR1	SP1	NO	in vitro;in vivo	15637147 , 10446910
ESR1	CALM3	NO	in vivo	11981030
ESR1	SAFB2	NO	in vitro;in vivo	12660241
ESR1	GTF2H1	NO	in vitro;in vivo	10949034
ESR1	COPS5	NO	in vivo	15899841
ESR1	PRMT2	YES	in vitro;in vivo	12039952
ESR1	RFX4	YES	in vivo	10706293 , 1603086
ESR1	RXRA	NO	in vitro	9717844
ESR1	TRIM24	YES	in vitro;in vivo	9115274 , 9632676 , 10598587
ESR1	ITGB3BP	NO	in vitro;in vivo	15254226
ESR1	KDM5A	NO	in vitro	11358960
ESR1	BDNF	YES	in vitro	11923430
ESR1	MTCH2	NO	yeast 2-hybrid	15604093
ESR1	SMAD2	NO	in vitro	11555647
ESR1	LDB1	NO	in vitro;in vivo	19117995
ESR1	PELP1	NO	in vitro;in vivo	11481323
ESR1	MTA1	NO	in vivo	12167865
ESR1	POU4F2	NO	in vitro;yeast 2-hybrid	9448000
ESR1	NR1H4	NO	in vivo	17333335
ESR1	HSP90AB1	NO	in vitro	11795466

Related other genetic factors

Gene related SNPs (count: 0)

Gene related CNVs (count: 0)

Gene related other variants (count: 0)

Gene related regions (count: 2)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
Chr 6	chr6:0-170805979	3 (0/3/0)
6q25	chr6:148500000-160600000	2 (0/1/1)

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

Gene relationship with SZ

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

Overlap with SZ from candidate gene intersection analysis (count: 4)

Reference	ID in SZGene	Result Category
11525424	366	Negative
19421079	366	Negative
18424448	366	Positive
18164902	366	Negative

Gene relationship with MDD

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

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

Reference	Description	Category in MDD	Link in MK4MDD
17365134	AR gene in MDD group have shorter microsatellites' length, and ER beta gene have shorter microsatellites' length and higher rates of S alleles, SS, genotype, and lower rate of LL genotype than control group.	Pos	ESR1
12605096	Statistical analysis showed a significant difference in the II genotype and allele frequencies between the female MDD patients and the female controls ( P=0.010 and P=0.004, respectively).	Pos	ESR1
22051074	Women homozygous for the variant G allele of ESR1 rs9340799 had a 1.6-fold increased risk of MDD across their lifetime compared with women who were homozygous for the A allele (p=0.009)	Pos	ESR1

View in gBrowse

Region: chr6:151656691..152129619 View in gBrowse