Epithelial-Mesenchymal Transition gene database (dbEMT) Home
dbEMT
Pediatric cancer database
General information | Literature | Expression | Regulation | Variant | Interaction

Basic Information

Gene ID

2099

Name

ESR1

Synonym

ER|ESR|ESRA|Era|NR3A1;estrogen receptor 1;ESR1;estrogen receptor 1

Definition

ER-alpha|estradiol receptor|estrogen nuclear receptor alpha|estrogen receptor|estrogen receptor alpha 3*,4,5,6,7*/822 isoform|estrogen receptor alpha delta 3*,4,5,6,7*,8*/941 isoform|estrogen receptor alpha delta 3*,4,5,6,7*/819-2 isoform|estrogen recepto

Position

6q25.1

Gene Type

protein-coding

Pathways and Diseases

Pathway

downregulated of mta-3 in er-negative breast tumors;PID BioCarta;100102

Pathway

pelp1 modulation of estrogen receptor activity;PID BioCarta;100076

Pathway

estrogen responsive protein efp controls cell cycle and breast tumors growth;PID BioCarta;100182

Pathway

Signaling events mediated by HDAC Class II;PID Curated;200019

Pathway

Regulation of Telomerase;PID Curated;200072

Pathway

carm1 and regulation of the estrogen receptor;PID BioCarta;100219

Pathway

role of erbb2 in signal transduction and oncology;PID BioCarta;100147

Pathway

LKB1 signaling events;PID Curated;200061

Pathway

Regulation of nuclear SMAD2/3 signaling;PID Curated;200002

Pathway

Plasma membrane estrogen receptor signaling;PID Curated;200029

Pathway

Signaling mediated by p38-alpha and p38-beta;PID Curated;200154

Pathway

Gene Expression;Reactome;REACT:71

Pathway

ATF-2 transcription factor network;PID Curated;200116

Pathway

AP-1 transcription factor network;PID Curated;200118

Pathway

FOXM1 transcription factor network;PID Curated;200120

Pathway

overview of telomerase protein component gene htert transcriptional regulation;PID BioCarta;100019

Disease

Ovarian failure;FunDO

Disease

lipid and apolipoprotein levels;GAD

Disease

endothelial-dependent vasolidation;GAD

Disease

Thymoma;FunDO

Disease

Cancer;FunDO

Disease

Polyarthritis;FunDO

Disease

Cholelithiasis;FunDO

Disease

Down syndrome;FunDO

Disease

DEVELOPMENTAL;GAD

Disease

Depression;FunDO

Disease

Myasthenia Gravis;FunDO

Disease

Glaucoma;FunDO

Disease

IMMUNE;GAD

Disease

endometriosis;GAD

Disease

Uterine Prolapse;GAD

Disease

Vitiligo;FunDO

Disease

methamphetamine induced psychosis;GAD

Disease

PSYCH;GAD

Disease

osteopenia osteoporosis;GAD

Disease

HDL response to hormone replacement, augmented;OMIM

Disease

Bone mineral density (hip);NHGRI

Disease

Hypertension;FunDO

Disease

bone mass;GAD

Disease

Lupus vulgaris;FunDO

Disease

Osteoporosis;GAD

Disease

Infertility;FunDO

Disease

skeletal responsiveness to estrogen;GAD

Disease

Atherosclerosis;FunDO

Disease

Lupus erythematosus;FunDO

Disease

overall effect;GAD

Disease

age of menarche;GAD

Disease

Migraine;FunDO

Disease

dry eye syndrome;GAD

Disease

Uterine disease;FunDO

Disease

Herpes;FunDO

Disease

Bone mineral density (hip);GAD

Disease

cognitive function;GAD

Disease

cardiovascular disease;GAD

Disease

Bone mineral density (spine);NHGRI

Disease

quantitative calcaneal ultrasounds;GAD

Disease

bone density fractures, vertebral;GAD

Disease

Panic disorder;FunDO

Disease

psychoses;GAD

Disease

Breast cancer;NHGRI

Disease

in vitro fertilization;GAD

Disease

Bipolar disorder;FunDO

Disease

Osteoporosis;FunDO

Disease

Myocardial Infarction;GAD

Disease

endometrial cancer;GAD

Disease

prostate carcinoma;GAD

Disease

Migraine, susceptibility to;OMIM

Disease

body fat distribution;GAD

Disease

Height;NHGRI

Disease

male infertility;GAD

Disease

spondylosis, lumbar;GAD

Disease

Infertility, Male;GAD

Disease

Osteoporosis, Postmenopausal;GAD

Disease

PHARMACOGENOMIC;GAD

Disease

Dental plaque;FunDO

Disease

rheumatoid arthritis;GAD

Disease

METABOLIC;GAD

Disease

alcohol dependence;GAD

Disease

Ovarian disease;FunDO

Disease

Coronary Artery Disease;GAD

Disease

CARDIOVASCULAR;GAD

Disease

Late pregnancy;FunDO

Disease

osteoporotic fractures but polymorphisms;GAD

Disease

Schizophrenia;FunDO

Disease

Myocardial infarction, susceptibility to;OMIM

Disease

endometriosis adenomyosis and leiomyomata.;GAD

Disease

Breast cancer;OMIM

Disease

REPRODUCTION;GAD

Disease

blood pressure, arterial;GAD

Disease

urolithiasis;GAD

Disease

breast cancer;GAD

Disease

Obesity;FunDO

Disease

Diabetes Mellitus;GAD

Disease

ovarian cancer;GAD

Disease

Alzheimer's disease;GAD

Disease

Endometrial Neoplasms;GAD

Disease

Estrogen resistance;OMIM

Disease

Scoliosis;GAD

Disease

Parkinson disease;FunDO

Disease

serum low-density lipoprotein metabolism;GAD

Disease

Alcohol dependence;NHGRI

Disease

acute myocardial infarction;GAD

Disease

ovulatory dysfunctions;GAD

Disease

Infertility, Male;FunDO

Disease

Stroke;FunDO

Disease

idiopathic azoospermia;GAD

Disease

radiographic osteoarthritis of the knee;GAD

Disease

Alzheimer's disease;FunDO

Disease

Bone Mineral Density;GAD

Disease

Primary biliary cirrhosis;FunDO

Disease

bone density;GAD

Disease

Synovitis;FunDO

Disease

Diabetes mellitus;FunDO

Disease

CHEMDEPENDENCY;GAD

Disease

neuroticism;GAD

Disease

Carcinoma, Endometrioid;GAD

Disease

CANCER;GAD

Disease

Cerebrovascular disorder;FunDO

Disease

Rabies;FunDO

Disease

Kidney failure;FunDO

Disease

Bronchial hyperreactivity;FunDO

Disease

Endometriosis;FunDO

Disease

NEUROLOGICAL;GAD

Disease

Renal tubular acidosis;FunDO

Disease

Bone mineral density (spine);GAD

Disease

Atherosclerosis, susceptibility to;OMIM

Disease

Hyperlipidemia;FunDO

Disease

calcium excretion;GAD

Disease

Obesity, Morbid;GAD

Disease

varicose ulcers;GAD

External Links

Links to Entrez Gene

2099

Links to all GeneRIF Items

2099

Links to iHOP

2099

Sequence Information

Nucleotide Sequence

>2099 : length: 1788
atgaccatgaccctccacaccaaagcatctgggatggccctactgcatcagatccaaggg
aacgagctggagcccctgaaccgtccgcagctcaagatccccctggagcggcccctgggc
gaggtgtacctggacagcagcaagcccgccgtgtacaactaccccgagggcgccgcctac
gagttcaacgccgcggccgccgccaacgcgcaggtctacggtcagaccggcctcccctac
ggccccgggtctgaggctgcggcgttcggctccaacggcctggggggtttccccccactc
aacagcgtgtctccgagcccgctgatgctactgcacccgccgccgcagctgtcgcctttc
ctgcagccccacggccagcaggtgccctactacctggagaacgagcccagcggctacacg
gtgcgcgaggccggcccgccggcattctacaggccaaattcagataatcgacgccagggt
ggcagagaaagattggccagtaccaatgacaagggaagtatggctatggaatctgccaag
gagactcgctactgtgcagtgtgcaatgactatgcttcaggctaccattatggagtctgg
tcctgtgagggctgcaaggccttcttcaagagaagtattcaaggacataacgactatatg
tgtccagccaccaaccagtgcaccattgataaaaacaggaggaagagctgccaggcctgc
cggctccgcaaatgctacgaagtgggaatgatgaaaggtgggatacgaaaagaccgaaga
ggagggagaatgttgaaacacaagcgccagagagatgatggggagggcaggggtgaagtg
gggtctgctggagacatgagagctgccaacctttggccaagcccgctcatgatcaaacgc
tctaagaagaacagcctggccttgtccctgacggccgaccagatggtcagtgccttgttg
gatgctgagccccccatactctattccgagtatgatcctaccagacccttcagtgaagct
tcgatgatgggcttactgaccaacctggcagacagggagctggttcacatgatcaactgg
gcgaagagggtgccaggctttgtggatttgaccctccatgatcaggtccaccttctagaa
tgtgcctggctagagatcctgatgattggtctcgtctggcgctccatggagcacccaggg
aagctactgtttgctcctaacttgctcttggacaggaaccagggaaaatgtgtagagggc
atggtggagatcttcgacatgctgctggctacatcatctcggttccgcatgatgaatctg
cagggagaggagtttgtgtgcctcaaatctattattttgcttaattctggagtgtacaca
tttctgtccagcaccctgaagtctctggaagagaaggaccatatccaccgagtcctggac
aagatcacagacactttgatccacctgatggccaaggcaggcctgaccctgcagcagcag
caccagcggctggcccagctcctcctcatcctctcccacatcaggcacatgagtaacaaa
ggcatggagcatctgtacagcatgaagtgcaagaacgtggtgcccctctatgacctgctg
ctggagatgctggacgcccaccgcctacatgcgcccactagccgtggaggggcatccgtg
gaggagacggaccaaagccacttggccactgcgggctctacttcatcgcattccttgcaa
aagtattacatcacgggggaggcagagggtttccctgccacggtctga

Protein Sequence

>2099 : length: 595
MTMTLHTKASGMALLHQIQGNELEPLNRPQLKIPLERPLGEVYLDSSKPAVYNYPEGAAY
EFNAAAAANAQVYGQTGLPYGPGSEAAAFGSNGLGGFPPLNSVSPSPLMLLHPPPQLSPF
LQPHGQQVPYYLENEPSGYTVREAGPPAFYRPNSDNRRQGGRERLASTNDKGSMAMESAK
ETRYCAVCNDYASGYHYGVWSCEGCKAFFKRSIQGHNDYMCPATNQCTIDKNRRKSCQAC
RLRKCYEVGMMKGGIRKDRRGGRMLKHKRQRDDGEGRGEVGSAGDMRAANLWPSPLMIKR
SKKNSLALSLTADQMVSALLDAEPPILYSEYDPTRPFSEASMMGLLTNLADRELVHMINW
AKRVPGFVDLTLHDQVHLLECAWLEILMIGLVWRSMEHPGKLLFAPNLLLDRNQGKCVEG
MVEIFDMLLATSSRFRMMNLQGEEFVCLKSIILLNSGVYTFLSSTLKSLEEKDHIHRVLD
KITDTLIHLMAKAGLTLQQQHQRLAQLLLILSHIRHMSNKGMEHLYSMKCKNVVPLYDLL
LEMLDAHRLHAPTSRGGASVEETDQSHLATAGSTSSHSLQKYYITGEAEGFPATV



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