• Gene id: 2100

Gene Summary

• Gene Symbol: ESR2   Gene   UCSC   Ensembl
• Aliases: ER-BETA, ESR-BETA, ESRB, ESTRB, Erb, NR3A2
• Gene name: estrogen receptor 2
• Alternate names: estrogen receptor beta, estrogen receptor beta 4, nuclear receptor subfamily 3 group A member 2, oestrogen receptor beta,
• Gene location: 14q23.2-q23.3 (64338630: 64226711)     Exons: 18     NC_000014.9
• Gene summary(Entrez): This gene encodes a member of the family of estrogen receptors and superfamily of nuclear receptor transcription factors. The gene product contains an N-terminal DNA binding domain and C-terminal ligand binding domain and is localized to the nucleus, cyto
• OMIM: 601663

SNPs

rs1256049

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000014.9   g.64257333C>T
NC_000014.8   g.64724051C>T
NG_011535.1   g.86218G>A
NM_001291712.2   c.984G>A
NM_001291712.1   c.984G>A
NM_001437.2   c.984G>A
NM_001291723.1   c.984G>A
NM_001040275.1   c.984G>A
NM_001214902.1   c.984G>A
NM_001271876.1   c.984G>A
NR_073497.  

rs2987983

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000014.9   g.64296935A>G
NC_000014.8   g.64763653A>G
NG_011535.1   g.46616T>C|SEQ=[A/G]|GENE=ESR2

rs1256030

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000014.9   g.64280452A>G
NC_000014.9   g.64280452A>T
NC_000014.8   g.64747170A>G
NC_000014.8   g.64747170A>T
NG_011535.1   g.63099T>C
NG_011535.1   g.63099T>A|SEQ=[A/G/T]|GENE=ESR2

rs4986938

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000014.9   g.64233098C>T
NC_000014.8   g.64699816C>T
NG_011535.1   g.110453G>A
NM_001437.2   c.*39G>A
NR_073497.1   n.1600G>A
NM_001271877.1   c.*39G>A
XM_017021080.1   c.*39G>A
XM_017021079.1   c.*39G>A
XM_017021081.1   c.*39G>A
XM_017021082.1   c.*39G>A
XM_01702108  

rs1256063

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000014.9   g.64235499A>G
NC_000014.9   g.64235499A>T
NC_000014.8   g.64702217A>G
NC_000014.8   g.64702217A>T
NG_011535.1   g.108052T>C
NG_011535.1   g.108052T>A|SEQ=[A/G/T]|GENE=ESR2

rs944050

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000014.9   g.64233327T>C
NC_000014.8   g.64700045T>C
NG_011535.1   g.110224A>G|SEQ=[T/C]|GENE=ESR2

Protein Summary

• Protein general information: Q92731  
  • Name: Estrogen receptor beta (ER beta) (Nuclear receptor subfamily 3 group A member 2)
  • Length: 530  
  • Mass: 59,216
  • Tissue specificity: Ubiquitous.
• Sequence:

  MDIKNSPSSLNSPSSYNCSQSILPLEHGSIYIPSSYVDSHHEYPAMTFYSPAVMNYSIPSNVTNLEGGPGRQTTS
  PNVLWPTPGHLSPLVVHRQLSHLYAEPQKSPWCEARSLEHTLPVNRETLKRKVSGNRCASPVTGPGSKRDAHFCA
  VCSDYASGYHYGVWSCEGCKAFFKRSIQGHNDYICPATNQCTIDKNRRKSCQACRLRKCYEVGMVKCGSRRERCG
  YRLVRRQRSADEQLHCAGKAKRSGGHAPRVRELLLDALSPEQLVLTLLEAEPPHVLISRPSAPFTEASMMMSLTK
  LADKELVHMISWAKKIPGFVELSLFDQVRLLESCWMEVLMMGLMWRSIDHPGKLIFAPDLVLDRDEGKCVEGILE
  IFDMLLATTSRFRELKLQHKEYLCVKAMILLNSSMYPLVTATQDADSSRKLAHLLNAVTDALVWVIAKSGISSQQ
  QSMRLANLLMLLSHVRHASNKGMEHLLNMKCKNVVPVYDLLLEMLNAHVLRGCKSSITGSECSPAEDSKSKEGSQ
  NPQSQ

• Structural information:
  • Protein Domains: NR (264-498)
  • Interpro: IPR028355  IPR021064  IPR035500  IPR000536  IPR001723   IPR024178  IPR001628  IPR013088  
  • Prosite: PS51843 PS00031 PS51030
  • PDB: 1L2J 1NDE 1QKM 1U3Q 1U3R 1U3S 1U9E 1X76 1X78 1X7B 1X7J 1YY4 1YYE 1ZAF 2FSZ 2GIU 2I0G 2JJ3 2NV7 2QTU 2YJD 2YLY 2Z4B 3OLL 3OLS 3OMO 3OMP 3OMQ 4J24 4J26 4ZI1 5TOA
  • PDBsum: 1L2J 1NDE 1QKM 1U3Q 1U3R 1U3S 1U9E 1X76 1X78 1X7B 1X7J 1YY4 1YYE 1ZAF 2FSZ 2GIU 2I0G 2JJ3 2NV7 2QTU 2YJD 2YLY 2Z4B 3OLL 3OLS 3OMO 3OMP 3OMQ 4J24 4J26 4ZI1 5TOA
  • DIP: 5966
  • STRING: ENSP00000343925
• Other Databases: GeneCards:  ESR2  Malacards:  ESR2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000122	negative regulation of transcription from RNA polymerase II promoter	IDA	biological process
GO:0001046	core promoter sequence-specific DNA binding	IDA	molecular function
GO:0001541	ovarian follicle development	IEA	biological process
GO:0001662	behavioral fear response	IEA	biological process
GO:0003677	DNA binding	TAS	molecular function
GO:0003700	transcription factor activity, sequence-specific DNA binding	TAS	molecular function
GO:0003707	steroid hormone receptor activity	TAS	molecular function
GO:0003713	transcription coactivator activity	TAS	molecular function
GO:0004879	RNA polymerase II transcription factor activity, ligand-activated sequence-specific DNA binding	NAS	molecular function
GO:0005496	steroid binding	ISS	molecular function
GO:0005496	steroid binding	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0005634	nucleus	TAS	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005929	cilium	IEA	cellular component
GO:0006355	regulation of transcription, DNA-templated	TAS	biological process
GO:0006367	transcription initiation from RNA polymerase II promoter	TAS	biological process
GO:0007165	signal transduction	TAS	biological process
GO:0007165	signal transduction	TAS	biological process
GO:0007267	cell-cell signaling	TAS	biological process
GO:0007611	learning or memory	IEA	biological process
GO:0008144	drug binding	IEA	molecular function
GO:0008270	zinc ion binding	IEA	molecular function
GO:0009414	response to water deprivation	IEA	biological process
GO:0014823	response to activity	IEA	biological process
GO:0017085	response to insecticide	IEA	biological process
GO:0019899	enzyme binding	IPI	molecular function
GO:0021549	cerebellum development	IEA	biological process
GO:0021764	amygdala development	IEA	biological process
GO:0021854	hypothalamus development	IEA	biological process
GO:0030284	estrogen receptor activity	TAS	molecular function
GO:0030308	negative regulation of cell growth	NAS	biological process
GO:0030520	intracellular estrogen receptor signaling pathway	TAS	biological process
GO:0030850	prostate gland development	IEA	biological process
GO:0031667	response to nutrient levels	IEA	biological process
GO:0032993	protein-DNA complex	IEA	cellular component
GO:0033574	response to testosterone	IEA	biological process
GO:0033595	response to genistein	IEA	biological process
GO:0034056	estrogen response element binding	IDA	molecular function
GO:0034056	estrogen response element binding	IDA	molecular function
GO:0035690	cellular response to drug	IEA	biological process
GO:0038052	RNA polymerase II transcription factor activity, estrogen-activated sequence-specific DNA binding	IDA	molecular function
GO:0042975	peroxisome proliferator activated receptor binding	IEA	molecular function
GO:0043005	neuron projection	IEA	cellular component
GO:0043065	positive regulation of apoptotic process	IEA	biological process
GO:0043204	perikaryon	IEA	cellular component
GO:0043523	regulation of neuron apoptotic process	IEA	biological process
GO:0044752	response to human chorionic gonadotropin	IEA	biological process
GO:0044849	estrous cycle	IEA	biological process
GO:0045471	response to ethanol	IEA	biological process
GO:0045742	positive regulation of epidermal growth factor receptor signaling pathway	IEA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0045909	positive regulation of vasodilation	IEA	biological process
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	IEA	biological process
GO:0048019	receptor antagonist activity	NAS	molecular function
GO:0048471	perinuclear region of cytoplasm	IEA	cellular component
GO:0048662	negative regulation of smooth muscle cell proliferation	IEA	biological process
GO:0050680	negative regulation of epithelial cell proliferation	IEA	biological process
GO:0051091	positive regulation of sequence-specific DNA binding transcription factor activity	IDA	biological process
GO:0060009	Sertoli cell development	IEA	biological process
GO:0060011	Sertoli cell proliferation	IEA	biological process
GO:0070374	positive regulation of ERK1 and ERK2 cascade	IEA	biological process
GO:0071259	cellular response to magnetism	IEA	biological process
GO:0071392	cellular response to estradiol stimulus	IEA	biological process
GO:0071548	response to dexamethasone	IEA	biological process
GO:1900116	extracellular negative regulation of signal transduction	IEA	biological process
GO:1901215	negative regulation of neuron death	IEA	biological process
GO:1902074	response to salt	IEA	biological process
GO:1903924	estradiol binding	IEA	molecular function
GO:1903925	response to bisphenol A	IEA	biological process
GO:1990239	steroid hormone binding	IEA	molecular function
GO:2000252	negative regulation of feeding behavior	IEA	biological process
GO:2000378	negative regulation of reactive oxygen species metabolic process	IEA	biological process
GO:0000122	negative regulation of transcription from RNA polymerase II promoter	IEA	biological process
GO:0000122	negative regulation of transcription from RNA polymerase II promoter	IDA	biological process
GO:0001046	core promoter sequence-specific DNA binding	IEA	molecular function
GO:0001046	core promoter sequence-specific DNA binding	IDA	molecular function
GO:0001541	ovarian follicle development	IEA	biological process
GO:0001662	behavioral fear response	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0003677	DNA binding	TAS	molecular function
GO:0003700	transcription factor activity, sequence-specific DNA binding	IEA	molecular function
GO:0003700	transcription factor activity, sequence-specific DNA binding	TAS	molecular function
GO:0003707	steroid hormone receptor activity	IEA	molecular function
GO:0003707	steroid hormone receptor activity	IEA	molecular function
GO:0003707	steroid hormone receptor activity	TAS	molecular function
GO:0003713	transcription coactivator activity	TAS	molecular function
GO:0004879	RNA polymerase II transcription factor activity, ligand-activated sequence-specific DNA binding	NAS	molecular function
GO:0005496	steroid binding	IEA	molecular function
GO:0005496	steroid binding	IEA	molecular function
GO:0005496	steroid binding	ISS	molecular function
GO:0005496	steroid binding	IEA	molecular function
GO:0005496	steroid binding	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	TAS	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005929	cilium	IEA	cellular component
GO:0006351	transcription, DNA-templated	IEA	biological process
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0006355	regulation of transcription, DNA-templated	TAS	biological process
GO:0006367	transcription initiation from RNA polymerase II promoter	TAS	biological process
GO:0007165	signal transduction	TAS	biological process
GO:0007165	signal transduction	TAS	biological process
GO:0007267	cell-cell signaling	TAS	biological process
GO:0007611	learning or memory	IEA	biological process
GO:0008144	drug binding	IEA	molecular function
GO:0008270	zinc ion binding	IEA	molecular function
GO:0008289	lipid binding	IEA	molecular function
GO:0008584	male gonad development	IEA	biological process
GO:0008585	female gonad development	IEA	biological process
GO:0009414	response to water deprivation	IEA	biological process
GO:0009725	response to hormone	IEA	biological process
GO:0014070	response to organic cyclic compound	IEA	biological process
GO:0014823	response to activity	IEA	biological process
GO:0017085	response to insecticide	IEA	biological process
GO:0019899	enzyme binding	IEA	molecular function
GO:0019899	enzyme binding	IPI	molecular function
GO:0021549	cerebellum development	IEA	biological process
GO:0021764	amygdala development	IEA	biological process
GO:0021854	hypothalamus development	IEA	biological process
GO:0030284	estrogen receptor activity	IEA	molecular function
GO:0030284	estrogen receptor activity	IEA	molecular function
GO:0030284	estrogen receptor activity	TAS	molecular function
GO:0030308	negative regulation of cell growth	NAS	biological process
GO:0030518	intracellular steroid hormone receptor signaling pathway	IEA	biological process
GO:0030520	intracellular estrogen receptor signaling pathway	IEA	biological process
GO:0030520	intracellular estrogen receptor signaling pathway	TAS	biological process
GO:0030850	prostate gland development	IEA	biological process
GO:0031667	response to nutrient levels	IEA	biological process
GO:0032355	response to estradiol	IEA	biological process
GO:0032993	protein-DNA complex	IEA	cellular component
GO:0033574	response to testosterone	IEA	biological process
GO:0033595	response to genistein	IEA	biological process
GO:0034056	estrogen response element binding	IEA	molecular function
GO:0034056	estrogen response element binding	IDA	molecular function
GO:0034056	estrogen response element binding	IDA	molecular function
GO:0035690	cellular response to drug	IEA	biological process
GO:0038052	RNA polymerase II transcription factor activity, estrogen-activated sequence-specific DNA binding	IDA	molecular function
GO:0042493	response to drug	IEA	biological process
GO:0042562	hormone binding	IEA	molecular function
GO:0042975	peroxisome proliferator activated receptor binding	IEA	molecular function
GO:0043005	neuron projection	IEA	cellular component
GO:0043025	neuronal cell body	IEA	cellular component
GO:0043065	positive regulation of apoptotic process	IEA	biological process
GO:0043204	perikaryon	IEA	cellular component
GO:0043401	steroid hormone mediated signaling pathway	IEA	biological process
GO:0043523	regulation of neuron apoptotic process	IEA	biological process
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0043627	response to estrogen	IEA	biological process
GO:0044752	response to human chorionic gonadotropin	IEA	biological process
GO:0044849	estrous cycle	IEA	biological process
GO:0045471	response to ethanol	IEA	biological process
GO:0045742	positive regulation of epidermal growth factor receptor signaling pathway	IEA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IEA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0045909	positive regulation of vasodilation	IEA	biological process
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0048019	receptor antagonist activity	NAS	molecular function
GO:0048471	perinuclear region of cytoplasm	IEA	cellular component
GO:0048521	negative regulation of behavior	IEA	biological process
GO:0048662	negative regulation of smooth muscle cell proliferation	IEA	biological process
GO:0050680	negative regulation of epithelial cell proliferation	IEA	biological process
GO:0051091	positive regulation of sequence-specific DNA binding transcription factor activity	IDA	biological process
GO:0060009	Sertoli cell development	IEA	biological process
GO:0060011	Sertoli cell proliferation	IEA	biological process
GO:0060548	negative regulation of cell death	IEA	biological process
GO:0070374	positive regulation of ERK1 and ERK2 cascade	IEA	biological process
GO:0071259	cellular response to magnetism	IEA	biological process
GO:0071392	cellular response to estradiol stimulus	IEA	biological process
GO:0071407	cellular response to organic cyclic compound	IEA	biological process
GO:0071548	response to dexamethasone	IEA	biological process
GO:1900116	extracellular negative regulation of signal transduction	IEA	biological process
GO:1901215	negative regulation of neuron death	IEA	biological process
GO:1902074	response to salt	IEA	biological process
GO:1903924	estradiol binding	IEA	molecular function
GO:1903925	response to bisphenol A	IEA	biological process
GO:1990239	steroid hormone binding	IEA	molecular function
GO:2000252	negative regulation of feeding behavior	IEA	biological process
GO:2000378	negative regulation of reactive oxygen species metabolic process	IEA	biological process
GO:0000122	negative regulation of transcription from RNA polymerase II promoter	IDA	biological process
GO:0001046	core promoter sequence-specific DNA binding	IDA	molecular function
GO:0003677	DNA binding	TAS	molecular function
GO:0003700	transcription factor activity, sequence-specific DNA binding	TAS	molecular function
GO:0003707	steroid hormone receptor activity	TAS	molecular function
GO:0003713	transcription coactivator activity	TAS	molecular function
GO:0004879	RNA polymerase II transcription factor activity, ligand-activated sequence-specific DNA binding	NAS	molecular function
GO:0005496	steroid binding	ISS	molecular function
GO:0005496	steroid binding	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	TAS	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0006355	regulation of transcription, DNA-templated	TAS	biological process
GO:0006367	transcription initiation from RNA polymerase II promoter	TAS	biological process
GO:0007165	signal transduction	TAS	biological process
GO:0007165	signal transduction	TAS	biological process
GO:0007267	cell-cell signaling	TAS	biological process
GO:0019899	enzyme binding	IPI	molecular function
GO:0030284	estrogen receptor activity	TAS	molecular function
GO:0030308	negative regulation of cell growth	NAS	biological process
GO:0030520	intracellular estrogen receptor signaling pathway	TAS	biological process
GO:0034056	estrogen response element binding	IDA	molecular function
GO:0034056	estrogen response element binding	IDA	molecular function
GO:0038052	RNA polymerase II transcription factor activity, estrogen-activated sequence-specific DNA binding	IDA	molecular function
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0048019	receptor antagonist activity	NAS	molecular function
GO:0051091	positive regulation of sequence-specific DNA binding transcription factor activity	IDA	biological process

KEGG pathways

Pathway id	Pathway name
hsa04929	GnRH secretion
hsa04915	Estrogen signaling pathway
hsa04917	Prolactin signaling pathway
hsa05200	Pathways in cancer
hsa05224	Breast cancer
hsa01522	Endocrine resistance

Diseases

Associated diseases	References
Cancer (testicular germ cell)	MIK: 22245602
Cancer	GAD: 19952760
Cancer (bladder)	GAD: 19692168
Cancer (colon)	GAD: 18992263
Cancer (colorectal)	GAD: 16365013
Cancer (endometrial)	GAD: 15280642
Cancer (epithelial ovarian)	GAD: 19064572
Cancer (glaucoma)	GAD: 20399928
Cancer (leiomyoma)	GAD: 19715484
Cancer (lung)	GAD: 18676680
Cancer (lymphoma)	GAD: 18636124
Cancer (ovarian)	GAD: 18704709
Cancer (prostate)	GAD: 15330195
Cancer (testicular)	GAD: 19776291
Cancer (uterine)	GAD: 12552233
Cancer (breast)	GAD: 16317584
Aortic aneurysm	GAD: 15698546
Apoplexy	GAD: 21106950
Atherosclerosis	GAD: 12691862
Cardiovascular disease	GAD: 16332659
Hypertension	GAD: 15167446
Peripheral vascular disease	GAD: 19194457
Cleft defects	GAD: 20634891
Graves disease	GAD: 17941906
Antithrombin fibrinogen protein C protein S thrombosis	GAD: 17184825
Arthritis	GAD: 20349239
Rheumatoid arthritis	GAD: 19555469
Systemic lupus erythematosus (SLE)	GAD: 20305046
Scleroderma	GAD: 19032828
Metabolic syndrome	GAD: 19032032
Obesity	GAD: 18053221
Bone diseases	GAD: 15781005
Scoliosis	GAD: 19337134
Osteoarthritis	GAD: 16098017
Osteoporosis	GAD: 15258723
Degenerative arthropathy	GAD: 21080949
Migraine disorder	GAD: 19093296
Alzheimer's disease	GAD: 19141999
Parkinson disease	GAD: 15635591
Anorexia nervosa	GAD: 11803451
Autism	GAD: 19598235
Bipolar disorder	GAD: 11807414
Psychological disorders	GAD: 17365134
Schizophrenia	GAD: 18164902
Bulimia	GAD: 14699439
Cognitive function	GAD: 17889406
Dementia	GAD: 19473078
Depression	GAD: 17365134
Chronic renal failure	GAD: 21085059
Abortion	GAD: 20716560
Azoospermia	GAD: 20378615
Semen quality	GAD: 19959825
Preeclampsia	GAD: 15894829
Premature ovarian failure (POF)	GAD: 17706202
Ovulatory disorders	GAD: 11231990
Adenomyosis	INFBASE: 21444077
Recurrent pregnancy loss (RPL)	INFBASE: 20716560
Polycystic ovary syndrome (PCOS)	INFBASE: 21150157
Ovarian endometriomata	INFBASE: 10421802
Ovarian endometriosis	INFBASE: 18849443
Infertility	INFBASE: 20857063
Oligoasthenoteratospermia	MIK: 21344398
Sperm concentration and motility	MIK: 21429951
Fertility defects	MIK: 21132001
Male factor infertility	MIK: 26400324
Testicular dysgenesis syndrome (TDS)	MIK: 15998774
Varicocele	MIK: 21344398
Sertoli cell only syndrome (SCOS)	MIK: 19886769
Spermatogenesis defects	MIK: 18980759
Spermatogenesis defects	MIK: 23913373
Oligozoospermia	MIK: 16213843
Chorioamnionitis	GAD: 20452482
Controlled ovarian hyperstimulation	INFBASE: 17540666
Cryptorchidism	GAD: 20215396
Endometriosis	MIK: 27048022
Female infertility	INFBASE: 25526766
Hypospadias	GAD: 16553027
Hypospermatogenesis	MIK: 19886769
Human spermatogenic defect	GAD: 18980759
Chronic obstructive pulmonary disease (COPD)	GAD: 19625176
Varicose ulcer	GAD: 16153823
Chronic periodontitis	GAD: 18846948
Hypospermatogenesis	MIK: 19886769
Sertoli cell-only syndrome	MIK: 19886769
Azoospermia	MIK: 21430602
Oligozoospermia	MIK: 16213843
Endometriosis	MIK: 27048022
Hypospadias	MIK: 27300571
Immature spermatozoa with excess residual cytoplasm	MIK: 16846491
Male infertility	MIK: 16213843
Hypospadias	MIK: 15998774
Cryptorchidism	MIK: 15998774
Testicular cancer	MIK: 15998774
Testicular dysgenesis syndrome	MIK: 15998774
Nonobstructive azoospermia	MIK: 27038350
Varicocele	MIK: 21344398
Oligoastenoteratozoospermia	MIK: 21344398
Spermatogenic defects	MIK: 18980759
Reduced fertilization rate	MIK: 21132001
Embryonic developmental competence	MIK: 21132001
Semen quality	MIK: 19959825
Sperm concentration	MIK: 21429951
Sperm motility	MIK: 21429951
Spermatogenesis defects	MIK: 21429951
Teratozoospermia	MIK: 17327269
Testicular germ cell cancer	MIK: 22245602

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
23913373	Spermatogenic defects	ER? gene gene and PvuII and XbaI polymorphisms and the ER? gene and RsaI and AluI polymorphisms	Chinese	456 (204 men with oligozoospermia (sperm count <20 x 10(6)/mL) or azoospermia and 252 fertile control men)	Male infertility	ESR1 ESR2
22622360	Spermatogenic failure		Japanes e	244 (125 men with spermatogenic failure, 119 age-matched control males)	Male infertility
22245602	Testicular germ cell cancer	ESR2 (rs1256063), LHCGR (rs4597581, rs4953617, rs7371084), ESR1 (rs9397080)		581 (367 patients and 214 controls)	Male infertility	ESR1 ESR2 LHCGR
21823190	Male infertility	ER? (PvuII and XbaI) and ER? (AluI and RsaI) gene polymorphisms	Brazili an	403 (187 idiopathic, infertile(78 nonobstructive azoospermia, 109 severe oligozoospermia), 216 fertile men)	Male infertility	ESR1 ESR2
21430602	Azoospermia	rs2207396, rs9340958, rs9340978		127 adult childhood cancer survivors	Male infertility	ESR1 ESR2
21429951	Spermatogenesis defects	rs1801132 and rs2228480 of the ER-? gene, rs1256049 and rs4986938 of the ER-? gene, rs605059 of the HSD17B1 gene, rs1799941 of the SHBG gene and rs1048943 and rs4646903 of the CYP1A1 gene		677 (10 fertile men, 467 infertile men)	Male infertility	ER-?  ER-? CYP19A1 HSD17B1 CYP1A1 CYP1B1 COMT GSTM1 GSTT1 SHBG
20599614	Male infertility	ER-? Pvull TT, ER-? XbaI AA, ER-? RsaI AG, and ER-? Alul AG genotypes	Iranian	328 (164 infertile men and 164 age-matched healthy controls)	Male infertility	ESR1 ESR2
16846491	Spermatogenic defects			20 (10 asthenozoospermia patients, 10 fertile donors)	Male infertility	ESR1 ESR2
16213843	Azoospermia, Oligozoospermia	ESR1 g.938T>C, FSHR Ser680Asn, ESR2 *39A>G, CYP19A1 *19C>T, and NRIP1 Gly75Gly polymorphism	Spanish	199 (104 men with azoospermia or severe oligozoospermia, 95 healthy controls)	Male infertility	ESR1 FSHR ESR2 CYP19A1 NRIP1
19959825	Semen quality, Male infertility	ER alpha (397T/C, 397C/C, 351A/A, 351A/G and 351 G/G), ER beta (1082G-->A and 1730A-->G)		114 (85 men had normal sperm count, 29 were oligozoospermic)	Male infertility	ER alpha ER beta
16213843	Azoospermia, oligospermia	ESR1 g.938T>C, FSHR Ser680Asn, ESR2 *39A>G, CYP19A1 *19C>T, and NRIP1 Gly75Gly	Spanish	199 (104 men with azoospermia or severe oligozoospermia, 95 race-matched healthy controls)	Male infertility	ESR1 FSHR ESR2 CYP19A1 and NRIP1
16213843	Male idiopathic infertility	ESR1 g.938T>C, FSHR Ser680Asn, ESR2 *39A>G, CYP19A1*19C>T, and NRIP1 Gly75Gly polymorphism	Spanish	199 (104 with azoospermia or severe oligozoospermia, 95 unselected race-matched healthy controls)	Male infertility	ESR1 FSHR ESR2  CYP19A1 and NRIP1
24655068	Male infertility	RsaI(G/A) and AluI(A/G) polymorphisms in ER-beta	Caucasi an		Male infertility
24647635	Male infertility	ESR1 PvuII and ESR2 RsaI polymorphisms	Caucasi an		Male infertility	ESR1 ESR2
19886769	Azoopsermia, Sertoli cell-only syndrome, hypospermatogenesis			10 men undergoing testicular biopsy for infertility	Male infertility	Eralpha ERbeta
19509112	Male infertility	g.125:C>T in 5?UTR, g.59432:G>A in intron 7, g.126:G>C in 5?UTR, g.59281:C>T in exon 7	Indian	555 (300 infertile, 255 fertile control)	Male infertility
17916182	Male infertility	RsaI polymorphism (rs1256049) in exon 5 of Erbeta, CA repeat located in the flanking region of Erbeta	Indian	695 (443 infertile, 252 fertile men)	Male infertility
15998774	Male infertility, hypospadias, cryptorchidism, testicular cancer patients, testicular dysgenesis syndrome (TDS)	ERbeta silent polymorphisms, RsaI (G1082A) and AluI (G1730A)	Caucasi an	452 (106 men from infertile couples, 86 testicular cancer patients, 51 boys with hypospadias, 23 cases with cryptorchidism, 186 controls)	Male infertility
21344398	Oligoastenoteratozoospermic (OAT), varicocele				Male infertility	Er? ER?
21132001	Reduced fertilization rate, embryonic developmental competence.	ER? RsaI A genotype	Chinese	865 (374 couples who underwent conventional IVF; intracytoplasmic sperm injection (ICSI) group, including 294 couples who underwent an ICSI procedure using ejaculated sperm; and azoospermic group, consisting of 197 couples who underwent ICSI using either	Male infertility
18980759	Oligozoospermia, azoospermia, impaired spermatogenesis	(rs180113 of ER-alpha gene, rs1256049 of ER-beta gene, rs1048943 of CYP1A1 gene, rs8191246 of HSD17B2 gene, and rs1799941 along with rs6259 of SHBG gene	Taiwane se Han	303 (183 oligozoospermatic (sperm count <20 x 10(6)/mL) or azoospermatic males, 120 fertile control males)	Male infertility	ER-alpha ER-beta CYP17 CYP19A1 HSD17B2 CYP1A1 CYP1B1 COMT SHBG
27048022	Endometriosis				Female infertiltiy	ER? ER? TrkB BDNF SGPL1
26400324	Male infertility	Rsa1 polymorphism	Caucasi an, Bra zilian	287 (161 infertile, 126 fertile men)	Male infertility
27038350	Nonobstructive azoospermia (NOA), Male infertility			150 (90 infertile patients with non obstructive azoospermia, 60 fertile men as controls)	Male infertility
27300571	Hypospadias	rs944050; 2681-4A>G		1 case	Male infertility
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)