ESR1 (GeneID: 2099) | Homo sapiens
Description: estrogen receptor 1 [Source:HGNC Symbol;Acc:HGNC:3467]
Synonyms: ESRA, ER, NR3A1, ESR, ESTRR, Era
Other ID(s): ENSG00000091831, HGNC:3467
Protein Accession Numbers: NP_001372501, ENST00000440973, NP_001116214, NP_001372498, ENST00000406599, NP_000116, ENST00000206249, ENST00000443427, NP_001278170, NP_001372500, ENST00000427531, NP_001116213, NP_001372497, ENST00000404742, ENST00000456483, ENST00000440973.1, NP_001278159, NP_001372499, ENST00000415488, NP_001116212, NP_001315029, ENST00000338799, ENST00000446550
Statistics: gnomAD(91)
gnomAD Variants By Annotation

∙ Please click the name of species for the protein accession number used in the alignment.
∙ A p letter used as a pointer to positions of post translational modifications in human.
∙ Protein domains illustrated above belong to Homo sapiens (Human).
∙ ClinVar stacked bar chart represents whole protein isoforms of the gene. Please, check the other protein isoforms of the gene below.
∙ If more than one transcripts below are active (with blue background color), it means all the active transcripts have the same sequence.
ENST00000206249 ENST00000338799 ENST00000404742 ENST00000406599 ENST00000415488 ENST00000427531 ENST00000440973 ENST00000443427 ENST00000446550 ENST00000456483 NP_000116 NP_001116212 NP_001116213 NP_001116214 NP_001278159 NP_001278170 NP_001315029 NP_001372497 NP_001372498 NP_001372499 NP_001372500 NP_001372501


import_contactsClinVar Data
Variation ID filter_list Allele ID filter_list RS Number filter_list Variant Type filter_list Record filter_list Alteration filter_list Clinicial Sig. filter_list Last Update filter_list Phenotypes filter_list Cytogenetic filter_list Review Status filter_list RCV Acc.N. filter_list

healinggnomAD
Variant ID filter_list Transcript ID filter_list Alteration filter_list Annotation filter_list Allele C. filter_list Allele N. filter_list Allele F. filter_list rsNumber filter_list Flagsfilter_list Filter filter_list

placePost-translational Modifications (PTMs)
Gene Name filter_list ACC ID filter_list PTM Type filter_list Position filter_list Mod-rsd filter_list Site +/-7 Aa filter_list Mw_kd filter_list Site grpID filter_list

blur_onCatalogue of Somatic Mutations in Cancer (COSMIC)
Gene Name filter_list Transcript ID filter_list Sample name filter_list Primary Site filter_list Primary Histology filter_list Mutation ID filter_list Mutation CDS filter_list Mutation Aa filter_list Mutation Desc. filter_list FATHMM Prediction filter_list FATHMM Score filter_list Mutation Somatic Status filter_list PUBMED PMID filter_list Tumor Origin filter_list Position filter_list

chrome_reader_modedbSNP
Gene ID filter_list Transcript ID filter_list Consequence filter_list Position filter_list HGVSp filter_list Impact filter_list

format_align_centerProtein Domains (PFAM)
Pfam Domain filter_list Domain Name filter_list Description filter_list Positions filter_list Clan filter_list Clan Name filter_list Organism filter_list
NO RESULT FOUND
NO DOMAINS EXIST

view_listList of the diseases from DisGeNET
Disease Name filter_list Disease Category filter_list DSI* filter_list DPI** filter_list
Adenocarcinoma Neoplasms ; 0.355 0.897
Alzheimer's Disease Nervous System Diseases ; Mental Disorders ; 0.355 0.897
Astrocytoma Neoplasms ; 0.355 0.897
Atherosclerosis Cardiovascular Diseases ; 0.355 0.897
Bipolar Disorder Mental Disorders ; 0.355 0.897
Malignant neoplasm of urinary bladder Neoplasms ; Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ; 0.355 0.897
Bladder Neoplasm Neoplasms ; Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ; 0.355 0.897
Bone Diseases Musculoskeletal Diseases ; 0.355 0.897
Metabolic Bone Disorder Musculoskeletal Diseases ; Nutritional and Metabolic Diseases ; 0.355 0.897
Malignant neoplasm of breast Neoplasms ; Skin and Connective Tissue Diseases ; 0.355 0.897
Malignant Neoplasms Neoplasms ; 0.355 0.897
Carcinoma Neoplasms ; 0.355 0.897
Neoplastic Cell Transformation Neoplasms ; Pathological Conditions, Signs and Symptoms ; 0.355 0.897
Cervical Migraine Syndrome Nervous System Diseases ; 0.355 0.897
Coronary Arteriosclerosis Cardiovascular Diseases ; 0.355 0.897
Presenile dementia Nervous System Diseases ; Mental Disorders ; 0.355 0.897
Mental Depression Behavior and Behavior Mechanisms ; 0.355 0.897
Depressive disorder Mental Disorders ; 0.355 0.897
Endometrial Neoplasms Neoplasms ; Female Urogenital Diseases and Pregnancy Complications ; 0.355 0.897
Feminization Pathological Conditions, Signs and Symptoms ; 0.355 0.897
Glomerulonephritis Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ; 0.355 0.897
Hemicrania migraine Nervous System Diseases ; 0.355 0.897
Hypercholesterolemia, Familial Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Nutritional and Metabolic Diseases ; 0.355 0.897
Female infertility Female Urogenital Diseases and Pregnancy Complications ; 0.355 0.897
Male infertility Male Urogenital Diseases ; 0.355 0.897
Fibroid Tumor Neoplasms ; 0.355 0.897
leukemia Neoplasms ; 0.355 0.897
Liver neoplasms Neoplasms ; Digestive System Diseases ; 0.355 0.897
Lung Neoplasms Neoplasms ; Respiratory Tract Diseases ; 0.355 0.897
Animal Mammary Neoplasms Neoplasms ; Animal Diseases ; 0.355 0.897
Mammary Neoplasms, Experimental Neoplasms ; 0.355 0.897
Marijuana Abuse Chemically-Induced Disorders ; Mental Disorders ; 0.355 0.897
Mesothelioma Neoplasms ; 0.355 0.897
Musculoskeletal Pain Musculoskeletal Diseases ; Pathological Conditions, Signs and Symptoms ; 0.355 0.897
Myocardial Infarction Cardiovascular Diseases ; 0.355 0.897
Neoplasm Invasiveness Neoplasms ; Pathological Conditions, Signs and Symptoms ; 0.355 0.897
Neoplasm Metastasis Neoplasms ; Pathological Conditions, Signs and Symptoms ; 0.355 0.897
Neoplasm Recurrence, Local Neoplasms ; Pathological Conditions, Signs and Symptoms ; 0.355 0.897
Neuroblastoma Neoplasms ; 0.355 0.897
Obesity Nutritional and Metabolic Diseases ; Pathological Conditions, Signs and Symptoms ; 0.355 0.897
Oligospermia Male Urogenital Diseases ; 0.355 0.897
Osteogenesis Imperfecta Musculoskeletal Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Skin and Connective Tissue Diseases ; 0.355 0.897
Osteopenia Musculoskeletal Diseases ; Nutritional and Metabolic Diseases ; 0.355 0.897
Ovarian Carcinoma N/A 0.355 0.897
Prostatic Neoplasms Neoplasms ; Male Urogenital Diseases ; 0.355 0.897
Psychoses, Drug Chemically-Induced Disorders ; Mental Disorders ; 0.355 0.897
Psychoses, Substance-Induced Chemically-Induced Disorders ; Mental Disorders ; 0.355 0.897
Schizophrenia Mental Disorders ; 0.355 0.897
Shared Paranoid Disorder Mental Disorders ; 0.355 0.897
Sterility, Postpartum Female Urogenital Diseases and Pregnancy Complications ; 0.355 0.897
Uterine Fibroids Neoplasms ; 0.355 0.897
Migraine Variant Nervous System Diseases ; 0.355 0.897
Migraine Disorders Nervous System Diseases ; 0.355 0.897
Adenocarcinoma, Basal Cell Neoplasms ; 0.355 0.897
Adenocarcinoma, Oxyphilic Neoplasms ; 0.355 0.897
Carcinoma, Cribriform Neoplasms ; 0.355 0.897
Carcinoma, Granular Cell Neoplasms ; 0.355 0.897
Adenocarcinoma, Tubular Neoplasms ; 0.355 0.897
Anaplastic carcinoma Neoplasms ; 0.355 0.897
Carcinoma, Spindle-Cell Neoplasms ; 0.355 0.897
Undifferentiated carcinoma Neoplasms ; 0.355 0.897
Carcinomatosis Neoplasms ; 0.355 0.897
Subependymal Giant Cell Astrocytoma Neoplasms ; 0.355 0.897
Disease Exacerbation Pathological Conditions, Signs and Symptoms ; 0.355 0.897
Malignant neoplasm of lung Neoplasms ; Respiratory Tract Diseases ; 0.355 0.897
Abdominal Migraine Nervous System Diseases ; 0.355 0.897
Familial Alzheimer Disease (FAD) Nervous System Diseases ; Mental Disorders ; 0.355 0.897
Juvenile Pilocytic Astrocytoma Neoplasms ; 0.355 0.897
Diffuse Astrocytoma Neoplasms ; 0.355 0.897
Prostatic Intraepithelial Neoplasias Neoplasms ; 0.355 0.897
Anaplastic astrocytoma Neoplasms ; 0.355 0.897
Protoplasmic astrocytoma Neoplasms ; 0.355 0.897
Gemistocytic astrocytoma Neoplasms ; 0.355 0.897
Fibrillary Astrocytoma Neoplasms ; 0.355 0.897
Pilocytic Astrocytoma Neoplasms ; 0.355 0.897
Childhood Cerebral Astrocytoma Neoplasms ; 0.355 0.897
Status Migrainosus Nervous System Diseases ; 0.355 0.897
Subfertility, Female Female Urogenital Diseases and Pregnancy Complications ; 0.355 0.897
Malignant neoplasm of liver Neoplasms ; Digestive System Diseases ; 0.355 0.897
Breast Cancer, Familial Neoplasms ; Skin and Connective Tissue Diseases ; 0.355 0.897
Malignant neoplasm of prostate Neoplasms ; Male Urogenital Diseases ; 0.355 0.897
Endometrial Carcinoma Neoplasms ; Female Urogenital Diseases and Pregnancy Complications ; 0.355 0.897
Alzheimer Disease, Late Onset Nervous System Diseases ; Mental Disorders ; 0.355 0.897
Neoplasm of uncertain or unknown behavior of ovary N/A 0.355 0.897
Neoplasm of uncertain or unknown behavior of breast N/A 0.355 0.897
Acute Confusional Migraine Nervous System Diseases ; 0.355 0.897
Mood Disorders Mental Disorders ; 0.355 0.897
Acute Confusional Senile Dementia Nervous System Diseases ; Mental Disorders ; 0.355 0.897
Mixed oligoastrocytoma Neoplasms ; 0.355 0.897
Breast Carcinoma Neoplasms ; Skin and Connective Tissue Diseases ; 0.355 0.897
Sick Headaches Nervous System Diseases ; 0.355 0.897
Alzheimer's Disease, Focal Onset Nervous System Diseases ; Mental Disorders ; 0.355 0.897
Alzheimer Disease, Early Onset Nervous System Diseases ; Mental Disorders ; 0.355 0.897
Cerebral Astrocytoma Neoplasms ; 0.355 0.897
Intracranial Astrocytoma Neoplasms ; 0.355 0.897
Subfertility, Male Male Urogenital Diseases ; 0.355 0.897
Breast adenocarcinoma N/A 0.355 0.897
Female sterility Female Urogenital Diseases and Pregnancy Complications ; 0.355 0.897
Male sterility Male Urogenital Diseases ; 0.355 0.897
ovarian neoplasm Neoplasms ; Female Urogenital Diseases and Pregnancy Complications ; Endocrine System Diseases ; 0.355 0.897
Malignant neoplasm of ovary Neoplasms ; Female Urogenital Diseases and Pregnancy Complications ; Endocrine System Diseases ; 0.355 0.897
Mammary Carcinoma, Animal Neoplasms ; Animal Diseases ; 0.355 0.897
Mammary Neoplasms, Human Neoplasms ; Skin and Connective Tissue Diseases ; 0.355 0.897
Mammary Neoplasms Neoplasms ; Skin and Connective Tissue Diseases ; 0.355 0.897
Atherogenesis Cardiovascular Diseases ; 0.355 0.897
Grade I Astrocytoma Neoplasms ; 0.355 0.897
Bright Disease Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ; 0.355 0.897
Female Urogenital Diseases Female Urogenital Diseases and Pregnancy Complications ; 0.355 0.897
Coronary Artery Disease Cardiovascular Diseases ; 0.355 0.897
Liver carcinoma Neoplasms ; Digestive System Diseases ; 0.355 0.897
ESTROGEN RESISTANCE N/A 0.355 0.897
MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1 N/A 0.355 0.897
Familial Ménière disease N/A 0.355 0.897
NO RESULT FOUND
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