Endometriosis Knowledgebase


A repository for genes associated with endometriosis

Search Result


Gene id 2100
Gene Summary     SNPs    Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

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, ER beta, estrogen receptor beta 4, nuclear receptor subfamily 3 group A member 2,
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, cytoplasm, and mitochondria. Upon binding to 17beta-estradiol or related ligands, the encoded protein forms homo- or hetero-dimers that interact with specific DNA sequences to activate transcription. Some isoforms dominantly inhibit the activity of other estrogen receptor family members. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been fully characterized. [provided by RefSeq, Jul 2008]
OMIM 601663

SNPs

 rs1255998

Strand:    Allele origin:   Allele change: A/C/G   Mutation type: snp

CM000676.2   g.64227153G>C
CM000676.2   g.64227153G>T
NC_000014.8   g.64693871G>C
NC_000014.9   g.64227153G>C
NC_000014.9   g.64227153G>T
NG_011535.1   g.116398C>A
NG_011535.1   g.116398C>G
NG_011756.1   g.379189G>C
NG_011756.1   g.379189G>T
NM_001040275.1   c.*380C>A
NM_001040275.1   c.*380C>G
NM_001214902.1   c.*737C>A
NM_001214902.1   c.*737C>G
NM_001291712.1   c.*380C>A
NM_001291712.1   c.*380C>G
NM_001291723.1   c.*380C>A
NM_001291723.1   c.*380C>G
NR_073496.1   n.2472C>A
NR_073496.1   n.2472C>G
NR_073505.1   n.2611C>G
XR_001750187.1   n.2304C>A
XR_001750187.1   n.2304C>G
rs1256049

Strand: -   Allele origin: unknown  Allele change: A/G   Mutation type: snp

  
NC_000014.9   g.64257333C>T
NC_000014.8   g.64724051C>T
NG_011535.1   g.86218G>A
NM_001040275.1   c.984G>A
NM_001214903.1   c.984G>A
NM_001214902.1   c.984G>A
NM_001271876.1   c.984G>A
NM_001271877.1   c.952+3116G>A
NM_001291712.1   c.984G>A
NM_001291723.1   c.984G>A
NM_001  
rs4986938

Strand: -   Allele origin: unknown  Allele change: A/G   Mutation type: snp

NG_011535.1   g.110453G>A
NC_000014.9   g.64233098C>T
NC_000014.8   g.64699816C>T
NM_001040275.1   c.1406+1872G>A
NM_001214902.1   c.1406+1872G>A
NM_001271876.1   c.1406+1872G>A
NM_001271877.1   c.*39G>A
NM_001291723.1   c.1406+1872G>A
NM_001291712.1   c.1406+1872G>A
NM_00  
rs944052

Strand:    Allele origin:   Allele change: C/T   Mutation type: snp

CM000676.2   g.64339114G>A
NC_000014.8   g.64805832G>A
NC_000014.9   g.64339114G>A
NG_011535.1   g.4437C>T
NM_001291712.1   c.-2292C>T
NM_001291723.1   c.-1307C>T
NR_073496.1   n.-564C>T
NR_073505.1   n.-564C>T

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: Isoform 1 is expressed in testis and ovary, and at a lower level in heart, brain, placenta, liver, skeletal muscle, spleen, thymus, prostate, colon, bone marrow, mammary gland and uterus. Also found in uterine bone, breast, and ovarian

Sequence MDIKNSPSSLNSPSSYNCSQSILPLEHGSIYIPSSYVDSHHEYPAMTFYSPAVMNYSIPSNVTNLEGGPGRQTTS
PNVLWPTPGHLSPLVVHRQLSHLYAEPQKSPWCEARSLEHTLPVNRETLKRKVSGNRCASPVTGPGSKRDAHFCA
VCSDYASGYHYGVWSCEGCKAFFKRSIQGHNDYICPATNQCTIDKNRRKSCQACRLRKCYEVGMVKCGSRRERCG
YRLVRRQRSADEQLHCAGKAKRSGGHAPRVRELLLDALSPEQLVLTLLEAEPPHVLISRPSAPFTEASMMMSLTK
LADKELVHMISWAKKIPGFVELSLFDQVRLLESCWMEVLMMGLMWRSIDHPGKLIFAPDLVLDRDEGKCVEGILE
IFDMLLATTSRFRELKLQHKEYLCVKAMILLNSSMYPLVTATQDADSSRKLAHLLNAVTDALVWVIAKSGISSQQ
QSMRLANLLMLLSHVRHASNKGMEHLLNMKCKNVVPVYDLLLEMLNAHVLRGCKSSITGSECSPAEDSKSKEGSQ
NPQSQ
Structural information
Interpro:  IPR028355 IPR021064 IPR000536 IPR001723 IPR024178 IPR001628 IPR013088
Prosite:   PS00031 PS51030

Pfam:  		 PF12497 PF00104 PF00105

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
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

DIP:  		 5966
STRING:   ENSP00000343925;
Other Databases GeneCards:  ESR2;  Malacards:  ESR2

Gene ontology


GO accessionTerm nameEvidence codeGo category
GO:0000122 negative regulation of tr
anscription from RNA poly
merase II promoter
 IDA biological_process
GO:0001046 core promoter sequence-sp
ecific DNA binding
 IDA molecular_function
GO:0001541 ovarian follicle developm
ent
 IEA biological_process
GO:0001662 behavioral fear response
 IEA biological_process
GO:0003677 DNA binding
 TAS molecular_function
GO:0003700 transcription factor acti
vity, sequence-specific D
NA 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 transcr
iption factor activity, l
igand-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 transcripti
on, DNA-templated
 TAS biological_process
GO:0006367 transcription initiation
from RNA polymerase II pr
omoter
 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 depriva
tion
 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 activit
y
 TAS molecular_function
GO:0030308 negative regulation of ce
ll growth
 NAS biological_process
GO:0030520 intracellular estrogen re
ceptor signaling pathway
 TAS biological_process
GO:0030850 prostate gland developmen
t
 IEA biological_process
GO:0031667 response to nutrient leve
ls
 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 transcr
iption factor activity, e
strogen-activated sequenc
e-specific DNA binding
 IDA molecular_function
GO:0042975 peroxisome proliferator a
ctivated receptor binding
 IEA molecular_function
GO:0043005 neuron projection
 IEA cellular_component
GO:0043065 positive regulation of ap
optotic process
 IEA biological_process
GO:0043204 perikaryon
 IEA cellular_component
GO:0043523 regulation of neuron apop
totic process
 IEA biological_process
GO:0044752 response to human chorion
ic gonadotropin
 IEA biological_process
GO:0044849 estrous cycle
 IEA biological_process
GO:0045471 response to ethanol
 IEA biological_process
GO:0045742 positive regulation of ep
idermal growth factor rec
eptor signaling pathway
 IEA biological_process
GO:0045893 positive regulation of tr
anscription, DNA-template
d
 IDA biological_process
GO:0045909 positive regulation of va
sodilation
 IEA biological_process
GO:0045944 positive regulation of tr
anscription from RNA poly
merase II promoter
 IEA biological_process
GO:0048019 receptor antagonist activ
ity
 NAS molecular_function
GO:0048471 perinuclear region of cyt
oplasm
 IEA cellular_component
GO:0048662 negative regulation of sm
ooth muscle cell prolifer
ation
 IEA biological_process
GO:0050680 negative regulation of ep
ithelial cell proliferati
on
 IEA biological_process
GO:0051091 positive regulation of se
quence-specific DNA bindi
ng transcription factor a
ctivity
 IDA biological_process
GO:0060009 Sertoli cell development
 IEA biological_process
GO:0060011 Sertoli cell proliferatio
n
 IEA biological_process
GO:0070374 positive regulation of ER
K1 and ERK2 cascade
 IEA biological_process
GO:0071259 cellular response to magn
etism
 IEA biological_process
GO:0071392 cellular response to estr
adiol stimulus
 IEA biological_process
GO:0071548 response to dexamethasone
 IEA biological_process
GO:1900116 extracellular negative re
gulation of signal transd
uction
 IEA biological_process
GO:1901215 negative regulation of ne
uron 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 fe
eding behavior
 IEA biological_process
GO:2000378 negative regulation of re
active oxygen species met
abolic process
 IEA biological_process
GO:0000122 negative regulation of tr
anscription from RNA poly
merase II promoter
 IEA biological_process
GO:0000122 negative regulation of tr
anscription from RNA poly
merase II promoter
 IDA biological_process
GO:0001046 core promoter sequence-sp
ecific DNA binding
 IEA molecular_function
GO:0001046 core promoter sequence-sp
ecific DNA binding
 IDA molecular_function
GO:0001541 ovarian follicle developm
ent
 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 acti
vity, sequence-specific D
NA binding
 IEA molecular_function
GO:0003700 transcription factor acti
vity, sequence-specific D
NA 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 transcr
iption factor activity, l
igand-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-templa
ted
 IEA biological_process
GO:0006355 regulation of transcripti
on, DNA-templated
 IEA biological_process
GO:0006355 regulation of transcripti
on, DNA-templated
 IEA biological_process
GO:0006355 regulation of transcripti
on, DNA-templated
 TAS biological_process
GO:0006367 transcription initiation
from RNA polymerase II pr
omoter
 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 depriva
tion
 IEA biological_process
GO:0009725 response to hormone
 IEA biological_process
GO:0014070 response to organic cycli
c 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 activit
y
 IEA molecular_function
GO:0030284 estrogen receptor activit
y
 IEA molecular_function
GO:0030284 estrogen receptor activit
y
 TAS molecular_function
GO:0030308 negative regulation of ce
ll growth
 NAS biological_process
GO:0030518 intracellular steroid hor
mone receptor signaling p
athway
 IEA biological_process
GO:0030520 intracellular estrogen re
ceptor signaling pathway
 IEA biological_process
GO:0030520 intracellular estrogen re
ceptor signaling pathway
 TAS biological_process
GO:0030850 prostate gland developmen
t
 IEA biological_process
GO:0031667 response to nutrient leve
ls
 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 transcr
iption factor activity, e
strogen-activated sequenc
e-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 a
ctivated 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 ap
optotic 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 apop
totic process
 IEA biological_process
GO:0043565 sequence-specific DNA bin
ding
 IEA molecular_function
GO:0043565 sequence-specific DNA bin
ding
 IEA molecular_function
GO:0043627 response to estrogen
 IEA biological_process
GO:0044752 response to human chorion
ic gonadotropin
 IEA biological_process
GO:0044849 estrous cycle
 IEA biological_process
GO:0045471 response to ethanol
 IEA biological_process
GO:0045742 positive regulation of ep
idermal growth factor rec
eptor signaling pathway
 IEA biological_process
GO:0045893 positive regulation of tr
anscription, DNA-template
d
 IEA biological_process
GO:0045893 positive regulation of tr
anscription, DNA-template
d
 IDA biological_process
GO:0045909 positive regulation of va
sodilation
 IEA biological_process
GO:0045944 positive regulation of tr
anscription from RNA poly
merase II promoter
 IEA biological_process
GO:0046872 metal ion binding
 IEA molecular_function
GO:0048019 receptor antagonist activ
ity
 NAS molecular_function
GO:0048471 perinuclear region of cyt
oplasm
 IEA cellular_component
GO:0048521 negative regulation of be
havior
 IEA biological_process
GO:0048662 negative regulation of sm
ooth muscle cell prolifer
ation
 IEA biological_process
GO:0050680 negative regulation of ep
ithelial cell proliferati
on
 IEA biological_process
GO:0051091 positive regulation of se
quence-specific DNA bindi
ng transcription factor a
ctivity
 IDA biological_process
GO:0060009 Sertoli cell development
 IEA biological_process
GO:0060011 Sertoli cell proliferatio
n
 IEA biological_process
GO:0060548 negative regulation of ce
ll death
 IEA biological_process
GO:0070374 positive regulation of ER
K1 and ERK2 cascade
 IEA biological_process
GO:0071259 cellular response to magn
etism
 IEA biological_process
GO:0071392 cellular response to estr
adiol stimulus
 IEA biological_process
GO:0071407 cellular response to orga
nic cyclic compound
 IEA biological_process
GO:0071548 response to dexamethasone
 IEA biological_process
GO:1900116 extracellular negative re
gulation of signal transd
uction
 IEA biological_process
GO:1901215 negative regulation of ne
uron 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 fe
eding behavior
 IEA biological_process
GO:2000378 negative regulation of re
active oxygen species met
abolic process
 IEA biological_process
GO:0000122 negative regulation of tr
anscription from RNA poly
merase II promoter
 IDA biological_process
GO:0001046 core promoter sequence-sp
ecific DNA binding
 IDA molecular_function
GO:0003677 DNA binding
 TAS molecular_function
GO:0003700 transcription factor acti
vity, sequence-specific D
NA 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 transcr
iption factor activity, l
igand-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 transcripti
on, DNA-templated
 TAS biological_process
GO:0006367 transcription initiation
from RNA polymerase II pr
omoter
 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 activit
y
 TAS molecular_function
GO:0030308 negative regulation of ce
ll growth
 NAS biological_process
GO:0030520 intracellular estrogen re
ceptor 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 transcr
iption factor activity, e
strogen-activated sequenc
e-specific DNA binding
 IDA molecular_function
GO:0045893 positive regulation of tr
anscription, DNA-template
d
 IDA biological_process
GO:0048019 receptor antagonist activ
ity
 NAS molecular_function
GO:0051091 positive regulation of se
quence-specific DNA bindi
ng transcription factor a
ctivity
 IDA biological_process

KEGG pathways

hsa05224  Breast cancer
hsa01522  Endocrine resistance
hsa04915  Estrogen signaling pathway
hsa04917  Prolactin signaling pathway

Diseases

Associated diseases References
Adenomyosis PMID: 21444077
Alzheimer's disease PMID: 15944651
Anorexia nervosa PMID: 11803451
Autism PMID: 19598235
Azoospermia PMID: 21430602
Bipolar disorder PMID: 11807414
Cardiomyopathy PMID: 15167446
Chronic obstructive pulmonary disease (COPD) PMID: 19625176
Chronic periodontitis PMID: 18846948
Dementia PMID: 19473078
Depression PMID: 17365134
Female infertility PMID: 25526766
Graves disease PMID: 11887032
Human spermatogenic defect PMID: 18980759
Hypospadias PMID: 18375409
Impaired spermatogenesis PMID: 18980759
Male infertility PMID: 24647635
Metabolic syndrome PMID: 19032032
Migraine disorders PMID: 19093296
Obesity PMID: 19111408
Oligoasthenoteratozoospermia PMID: 21344398
Oligozoospermia PMID: 16213843
Osteoarthritis PMID: 16098017
Osteoporosis PMID: 15258723
Ovarian endometriosis PMID: 18849443
Ovarian endometriosis PMID: 18849443
Ovarian endometriosis PMID: 18762229
Ovulatory dysfunction PMID: 11231990
Parkinson's disease PMID: 15635591
Polycystic ovary syndrome (PCOS) PMID: 26649621
Preeclampsia PMID: 15894829
Premenstrual dysphoric disorder PMID: 17599809
Recurrent miscarriage PMID: 20716560
Endometriosis INFBASE26899323
Endometriosis associated infertility INFBASE23177411
Endometriosis associated infertility INFBASE21764500
Polycystic ovary syndrome (PCOS) INFBASE21150157
Endometriosis associated infertility INFBASE20857063
Endometriosis INFBASE20857063
Ovarian endometriosis INFBASE18849443
Ovarian endometriosis INFBASE18762229
Reduced fertilization rate PMID: 21132001
Rheumatoid arthritis PMID: 19555469
Scleroderma PMID: 19032828
Scoliosis PMID: 16648749
Sertoli cell-only syndrome (SCOS) PMID: 19886769
Spermatogenetic defects PMID: 23913373
Testicular anomalies PMID: 15998774
Testicular germ cell cancer PMID: 22245602

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
18849443 Endometrio
sis (ovari
an)

CYP1A1
CYP1B1
gamma-syn
ER alpha
ER beta
BCL-2
 Show abstract
22271293 Endometrio
sis


Show abstract
21476192 Endometrio
sis
 ESR2 (RsaI polymorphism)
100 (54 patient
s diagnosed wit
h endometriosis
, 46 controls)
 ERB
 Show abstract
20857063 Endometrio
sis
 ERB gene + 1730 G/A polymorphism
414 (136 women
with endometrio
sis, 69 women w
ithout endometr
iosis and 209 f
ertile women as
controls)
 Female infertility
Show abstract
25257822 Endometrio
sis
 ER-beta rs4986938, rs1256049 polymorphisms
Polymorphism 1:
2585 (1100 end
ometriosis case
s, 1485 control
s), Polymorphis
m2: 803 (353 ca
ses, 450 contro
ls)
 Female infertility
Show abstract
21150157 Endometrio
sis
1
 HSD11B1
 Show abstract
21110202 Endometrio
sis

Female infertility ESR1
ESR2
 Show abstract
19878085 Endometrio
sis
 ERbeta (+1730 G/A polymorphism)
318 (108 patien
ts with endomet
riosis, control
group consisti
ng of 210 ferti
le women)
 ERbeta
 Show abstract
17454161 Endometrio
sis
25 (16 samples
of ovarian endo
metriosis, 9 of
normal endomet
rium)
 Aromatase
17beta-HSD types 1
17beta-HSD types 7
sulfatase
Erbeta
Eralpha
 Show abstract
16210018 Endometrio
sis
74 (37 matched
samples from en
dometriotic and
corresponding
endometrial bio
psies obtained
during the prol
iferative and s
ecretory phase,
37 endometrial
biopsies obtai
ned from health
y women)
 MMP-1
Eralpha
Erbeta
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15193490 Endometrio
sis
 Erbeta (AluI and RsaI polymorphisms), Eralpha (XbaI and PvuII polymorphisms) Japanes
e
 314 (132 women
affected with e
ndometriosis, 1
82 controls)
 Eralpha
ERbeta
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19094579 Endometrio
sis
90 (60 cases of
ovarian endome
triotic cysts w
ith their corre
sponding eutopi
c endometrium (
30 cases of pro
liferation phas
e and 30 of sec
retary phase eu
topic endometri
um), 30 cases o
f normal endome
trium (15 proli
ferative and 15
secretary phas
e endometrial s
 Erbeta
Eralpha
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16855153 Endometrio
sis

Eralpha
Erbeta
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18762229 Endometrio
sis (ovari
an)

Eralpha
Erbeta
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20586553 Endometrio
sis, Endom
etriosis a
ssociated
infertilit
y
 ESR1 (rs2234693 - T/C single nucleotide polymorphism (SNP), dinucleotide (TA)(n) repeat) and ESR2 (dinucleotide (CA)(n) repeat),progesterone receptor gene PGR (rs10895068 - G/A SNP, 306-bp Alu-insertion), 17?-hydroxysteroid dehydrogenase type 1 gene HSD1
349 (150 endome
triosis, 199 co
ntrols)
 Female infertility ESR1
ESR2
PGR
CYP19A1 and HSD17B1
 Show abstract
24481237 Endometrio
sis
51 (44 endometr
iotic tissues (
39 severe dysme
norrhea, 29 dys
pareunia, 24 in
fertility), 7 m
atched eutopic
endometrium)
 Female infertility ESR1
ESR2
PGR
 Show abstract
21397694 Endometrio
sis
20 (11 ovarian
endometriosis s
amples, 9 contr
ol endometrium
samples)
 ESR2
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17625110 Endometrio
sis
 ESR2 (-197/+372)
16 (8 primary e
ndometrial cell
s, 8 endometrio
tic cells)
 ESR2
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23177411 Endometrio
sis
 ESR1(rs1159327 A/G, rs3020348 A/C) and ESR2 (rs17179740 A/G)
669 (157 infert
ile and 155 fer
tile endometrio
sis women as we
ll as 92 women
with primary in
fertility and 2
65 fertile wome
n as controls)
 Female infertility ESR1
ESR2
 Show abstract
26827666 Endometrio
sis


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21764500 Endometrio
sis
 LHB G+1730A, ERB G+1730A
201 infertile w
omen with endom
etriosis, 80 in
fertile women w
ithout endometr
iosis, 206 fert
ile women as co
ntrols
 Female infertility PR (PROGINS)
ERB
LHB
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26899323 Endometrio
sis
24 (12 endometr
iosis, 12 contr
ols)
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