| General information | Literature | Expression | Regulation | Variant | Interaction |
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Basic Information |
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|---|---|
Gene ID | 2099 |
Name | ESR1 |
Synonym | ER|ESR|ESRA|ESTRR|Era|NR3A1;estrogen receptor 1;ESR1;estrogen receptor 1 |
Definition | ER-alpha|estradiol receptor|estrogen nuclear receptor alpha|estrogen receptor|estrogen receptor alpha E1-E2-1-2|estrogen receptor alpha E1-N2-E2-1-2|nuclear receptor subfamily 3 group A member 1 |
Position | 6q25.1 |
Gene Type | protein-coding |
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TSG scores |
Description |
| TUSON ranking | 6655 |
TUSON P-value | 1 |
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Pathways and Diseases |
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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 |
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External Links |
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Links to Entrez Gene | 2099 |
Links to all GeneRIF Items | 2099 |
Links to iHOP | 2099 |
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Sequence Information |
The sequences provided here are only the longest representative sequences, not covering all the isoforms. |
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 |