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General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
Assigned HPA protein class(es) for the encoded protein(s).
Cancer-related genes Disease related genes FDA approved drug targets Human disease related genes Nuclear receptors Transcription factors
Predicted locationi
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
6
Cytoband
Chromosome location (bp)
151656691 - 152129619
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Nuclear hormone receptor. The steroid hormones and their receptors are involved in the regulation of eukaryotic gene expression and affect cellular proliferation and differentiation in target tissues. Ligand-dependent nuclear transactivation involves either direct homodimer binding to a palindromic estrogen response element (ERE) sequence or association with other DNA-binding transcription factors, such as AP-1/c-Jun, c-Fos, ATF-2, Sp1 and Sp3, to mediate ERE-independent signaling. Ligand binding induces a conformational change allowing subsequent or combinatorial association with multiprotein coactivator complexes through LXXLL motifs of their respective components. Mutual transrepression occurs between the estrogen receptor (ER) and NF-kappa-B in a cell-type specific manner. Decreases NF-kappa-B DNA-binding activity and inhibits NF-kappa-B-mediated transcription from the IL6 promoter and displace RELA/p65 and associated coregulators from the promoter. Recruited to the NF-kappa-B response element of the CCL2 and IL8 promoters and can displace CREBBP. Present with NF-kappa-B components RELA/p65 and NFKB1/p50 on ERE sequences. Can also act synergistically with NF-kappa-B to activate transcription involving respective recruitment adjacent response elements; the function involves CREBBP. Can activate the transcriptional activity of TFF1. Also mediates membrane-initiated estrogen signaling involving various kinase cascades. Essential for MTA1-mediated transcriptional regulation of BRCA1 and BCAS3 1. Maintains neuronal survival in response to ischemic reperfusion injury when in the presence of circulating estradiol (17-beta-estradiol/E2) (By similarity)....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Activator, DNA-binding, Receptor
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Transcription, Transcription regulation
Ligand (UniProt)i
Keywords assigned by UniProt to proteins because they bind, are associated with, or whose activity is dependent of some molecule.
This gene encodes an estrogen receptor and ligand-activated transcription factor. The canonical protein contains an N-terminal ligand-independent transactivation domain, a central DNA binding domain, a hinge domain, and a C-terminal ligand-dependent transactivation domain. The protein localizes to the nucleus where it may form either a homodimer or a heterodimer with estrogen receptor 2. The protein encoded by this gene regulates the transcription of many estrogen-inducible genes that play a role in growth, metabolism, sexual development, gestation, and other reproductive functions and is expressed in many non-reproductive tissues. The receptor encoded by this gene plays a key role in breast cancer, endometrial cancer, and osteoporosis. This gene is reported to have dozens of transcript variants due to the use of alternate promoters and alternative splicing, however, the full-length nature of many of these variants remain uncertain. [provided by RefSeq, Jul 2020]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
Nuclear receptors THUMBUP predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Transcription factors Zinc-coordinating DNA-binding domains Cancer-related genes Candidate cancer biomarkers Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Missense Mutations Disease related genes FDA approved drug targets Small molecule drugs Human disease related genes Cancers Cancers of the breast and female genital organs Cardiovascular diseases Cardiac diseases Endocrine and metabolic diseases Gonadal diseases Mapped to neXtProt neXtProt - Evidence at protein level
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GO:0000122[negative regulation of transcription by RNA polymerase II] GO:0000785[chromatin] GO:0000791[euchromatin] GO:0000978[RNA polymerase II cis-regulatory region sequence-specific DNA binding] GO:0000981[DNA-binding transcription factor activity, RNA polymerase II-specific] GO:0001093[TFIIB-class transcription factor binding] GO:0001221[transcription coregulator binding] GO:0001222[transcription corepressor binding] GO:0001223[transcription coactivator binding] GO:0001228[DNA-binding transcription activator activity, RNA polymerase II-specific] GO:0001547[antral ovarian follicle growth] GO:0002064[epithelial cell development] GO:0003676[nucleic acid binding] GO:0003677[DNA binding] GO:0003682[chromatin binding] GO:0003700[DNA-binding transcription factor activity] GO:0003707[nuclear steroid receptor activity] GO:0004879[nuclear receptor activity] GO:0005496[steroid binding] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005667[transcription regulator complex] GO:0005737[cytoplasm] GO:0005794[Golgi apparatus] GO:0005829[cytosol] GO:0005886[plasma membrane] GO:0006338[chromatin remodeling] GO:0006351[DNA-templated transcription] GO:0006355[regulation of DNA-templated transcription] GO:0006357[regulation of transcription by RNA polymerase II] GO:0006366[transcription by RNA polymerase II] GO:0007165[signal transduction] GO:0007200[phospholipase C-activating G protein-coupled receptor signaling pathway] GO:0007204[positive regulation of cytosolic calcium ion concentration] GO:0008013[beta-catenin binding] GO:0008209[androgen metabolic process] GO:0008270[zinc ion binding] GO:0008289[lipid binding] GO:0008584[male gonad development] GO:0010629[negative regulation of gene expression] GO:0010863[positive regulation of phospholipase C activity] GO:0016020[membrane] GO:0017025[TBP-class protein binding] GO:0019899[enzyme binding] GO:0019901[protein kinase binding] GO:0030235[nitric-oxide synthase regulator activity] GO:0030284[nuclear estrogen receptor activity] GO:0030331[nuclear estrogen receptor binding] GO:0030518[intracellular steroid hormone receptor signaling pathway] GO:0030520[intracellular estrogen receptor signaling pathway] GO:0030522[intracellular receptor signaling pathway] GO:0032355[response to estradiol] GO:0032991[protein-containing complex] GO:0034056[estrogen response element binding] GO:0034121[regulation of toll-like receptor signaling pathway] GO:0042802[identical protein binding] GO:0043124[negative regulation of I-kappaB kinase/NF-kappaB signaling] GO:0043401[steroid hormone mediated signaling pathway] GO:0043433[negative regulation of DNA-binding transcription factor activity] GO:0043565[sequence-specific DNA binding] GO:0043627[response to estrogen] GO:0045893[positive regulation of DNA-templated transcription] GO:0045899[positive regulation of RNA polymerase II transcription preinitiation complex assembly] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0046872[metal ion binding] GO:0048144[fibroblast proliferation] GO:0048146[positive regulation of fibroblast proliferation] GO:0048863[stem cell differentiation] GO:0050727[regulation of inflammatory response] GO:0051091[positive regulation of DNA-binding transcription factor activity] GO:0051117[ATPase binding] GO:0060065[uterus development] GO:0060068[vagina development] GO:0060523[prostate epithelial cord elongation] GO:0060527[prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis] GO:0060687[regulation of branching involved in prostate gland morphogenesis] GO:0060745[mammary gland branching involved in pregnancy] GO:0060749[mammary gland alveolus development] GO:0060750[epithelial cell proliferation involved in mammary gland duct elongation] GO:0071168[protein localization to chromatin] GO:0071391[cellular response to estrogen stimulus] GO:0071392[cellular response to estradiol stimulus] GO:0097550[transcription preinitiation complex] GO:1902894[negative regulation of miRNA transcription] GO:1904035[regulation of epithelial cell apoptotic process] GO:1990837[sequence-specific double-stranded DNA binding]
Nuclear receptors THUMBUP predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Transcription factors Zinc-coordinating DNA-binding domains Cancer-related genes Candidate cancer biomarkers Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Missense Mutations Disease related genes FDA approved drug targets Small molecule drugs Human disease related genes Cancers Cancers of the breast and female genital organs Cardiovascular diseases Cardiac diseases Endocrine and metabolic diseases Gonadal diseases Mapped to neXtProt neXtProt - Evidence at protein level
Show all
GO:0000122[negative regulation of transcription by RNA polymerase II] GO:0000785[chromatin] GO:0000791[euchromatin] GO:0000978[RNA polymerase II cis-regulatory region sequence-specific DNA binding] GO:0000981[DNA-binding transcription factor activity, RNA polymerase II-specific] GO:0001093[TFIIB-class transcription factor binding] GO:0001221[transcription coregulator binding] GO:0001222[transcription corepressor binding] GO:0001223[transcription coactivator binding] GO:0001228[DNA-binding transcription activator activity, RNA polymerase II-specific] GO:0003676[nucleic acid binding] GO:0003677[DNA binding] GO:0003682[chromatin binding] GO:0003700[DNA-binding transcription factor activity] GO:0003707[nuclear steroid receptor activity] GO:0004879[nuclear receptor activity] GO:0005496[steroid binding] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005667[transcription regulator complex] GO:0005737[cytoplasm] GO:0005794[Golgi apparatus] GO:0005829[cytosol] GO:0005886[plasma membrane] GO:0006338[chromatin remodeling] GO:0006351[DNA-templated transcription] GO:0006355[regulation of DNA-templated transcription] GO:0006357[regulation of transcription by RNA polymerase II] GO:0007165[signal transduction] GO:0007200[phospholipase C-activating G protein-coupled receptor signaling pathway] GO:0007204[positive regulation of cytosolic calcium ion concentration] GO:0008013[beta-catenin binding] GO:0008270[zinc ion binding] GO:0008289[lipid binding] GO:0010629[negative regulation of gene expression] GO:0010863[positive regulation of phospholipase C activity] GO:0016020[membrane] GO:0017025[TBP-class protein binding] GO:0019899[enzyme binding] GO:0019901[protein kinase binding] GO:0030235[nitric-oxide synthase regulator activity] GO:0030284[nuclear estrogen receptor activity] GO:0030331[nuclear estrogen receptor binding] GO:0030518[intracellular steroid hormone receptor signaling pathway] GO:0030520[intracellular estrogen receptor signaling pathway] GO:0030522[intracellular receptor signaling pathway] GO:0032355[response to estradiol] GO:0032991[protein-containing complex] GO:0034056[estrogen response element binding] GO:0042802[identical protein binding] GO:0043124[negative regulation of I-kappaB kinase/NF-kappaB signaling] GO:0043401[steroid hormone mediated signaling pathway] GO:0043433[negative regulation of DNA-binding transcription factor activity] GO:0043565[sequence-specific DNA binding] GO:0043627[response to estrogen] GO:0045893[positive regulation of DNA-templated transcription] GO:0045899[positive regulation of RNA polymerase II transcription preinitiation complex assembly] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0046872[metal ion binding] GO:0051091[positive regulation of DNA-binding transcription factor activity] GO:0051117[ATPase binding] GO:0071168[protein localization to chromatin] GO:0071392[cellular response to estradiol stimulus] GO:0097550[transcription preinitiation complex] GO:1902894[negative regulation of miRNA transcription] GO:1990837[sequence-specific double-stranded DNA binding]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Missense Mutations Human disease related genes Cancers Cancers of the breast and female genital organs Cardiovascular diseases Cardiac diseases Endocrine and metabolic diseases Gonadal diseases
Nuclear receptors Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Missense Mutations Human disease related genes Cancers Cancers of the breast and female genital organs Cardiovascular diseases Cardiac diseases Endocrine and metabolic diseases Gonadal diseases
SCAMPI predicted membrane proteins THUMBUP predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Missense Mutations Human disease related genes Cancers Cancers of the breast and female genital organs Cardiovascular diseases Cardiac diseases Endocrine and metabolic diseases Gonadal diseases
THUMBUP predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Missense Mutations Human disease related genes Cancers Cancers of the breast and female genital organs Cardiovascular diseases Cardiac diseases Endocrine and metabolic diseases Gonadal diseases
Nuclear receptors THUMBUP predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Transcription factors Zinc-coordinating DNA-binding domains Cancer-related genes Candidate cancer biomarkers Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Missense Mutations Disease related genes FDA approved drug targets Small molecule drugs Human disease related genes Cancers Cancers of the breast and female genital organs Cardiovascular diseases Cardiac diseases Endocrine and metabolic diseases Gonadal diseases Mapped to neXtProt neXtProt - Evidence at protein level
Show all
GO:0000122[negative regulation of transcription by RNA polymerase II] GO:0000785[chromatin] GO:0000791[euchromatin] GO:0000978[RNA polymerase II cis-regulatory region sequence-specific DNA binding] GO:0000981[DNA-binding transcription factor activity, RNA polymerase II-specific] GO:0001093[TFIIB-class transcription factor binding] GO:0001221[transcription coregulator binding] GO:0001222[transcription corepressor binding] GO:0001223[transcription coactivator binding] GO:0001228[DNA-binding transcription activator activity, RNA polymerase II-specific] GO:0003676[nucleic acid binding] GO:0003677[DNA binding] GO:0003682[chromatin binding] GO:0003700[DNA-binding transcription factor activity] GO:0003707[nuclear steroid receptor activity] GO:0004879[nuclear receptor activity] GO:0005496[steroid binding] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005667[transcription regulator complex] GO:0005737[cytoplasm] GO:0005794[Golgi apparatus] GO:0005829[cytosol] GO:0005886[plasma membrane] GO:0006338[chromatin remodeling] GO:0006351[DNA-templated transcription] GO:0006355[regulation of DNA-templated transcription] GO:0006357[regulation of transcription by RNA polymerase II] GO:0007165[signal transduction] GO:0007200[phospholipase C-activating G protein-coupled receptor signaling pathway] GO:0007204[positive regulation of cytosolic calcium ion concentration] GO:0008013[beta-catenin binding] GO:0008270[zinc ion binding] GO:0008289[lipid binding] GO:0010629[negative regulation of gene expression] GO:0010863[positive regulation of phospholipase C activity] GO:0016020[membrane] GO:0017025[TBP-class protein binding] GO:0019899[enzyme binding] GO:0019901[protein kinase binding] GO:0030235[nitric-oxide synthase regulator activity] GO:0030284[nuclear estrogen receptor activity] GO:0030331[nuclear estrogen receptor binding] GO:0030518[intracellular steroid hormone receptor signaling pathway] GO:0030520[intracellular estrogen receptor signaling pathway] GO:0030522[intracellular receptor signaling pathway] GO:0032355[response to estradiol] GO:0032991[protein-containing complex] GO:0034056[estrogen response element binding] GO:0042802[identical protein binding] GO:0043124[negative regulation of I-kappaB kinase/NF-kappaB signaling] GO:0043401[steroid hormone mediated signaling pathway] GO:0043433[negative regulation of DNA-binding transcription factor activity] GO:0043565[sequence-specific DNA binding] GO:0043627[response to estrogen] GO:0045893[positive regulation of DNA-templated transcription] GO:0045899[positive regulation of RNA polymerase II transcription preinitiation complex assembly] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0046872[metal ion binding] GO:0051091[positive regulation of DNA-binding transcription factor activity] GO:0051117[ATPase binding] GO:0071168[protein localization to chromatin] GO:0071392[cellular response to estradiol stimulus] GO:0097550[transcription preinitiation complex] GO:1902894[negative regulation of miRNA transcription] GO:1990837[sequence-specific double-stranded DNA binding]
Nuclear receptors THUMBUP predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Transcription factors Zinc-coordinating DNA-binding domains Cancer-related genes Candidate cancer biomarkers Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Missense Mutations Disease related genes FDA approved drug targets Small molecule drugs Human disease related genes Cancers Cancers of the breast and female genital organs Cardiovascular diseases Cardiac diseases Endocrine and metabolic diseases Gonadal diseases Mapped to neXtProt neXtProt - Evidence at protein level
Show all
GO:0000122[negative regulation of transcription by RNA polymerase II] GO:0000785[chromatin] GO:0000791[euchromatin] GO:0000978[RNA polymerase II cis-regulatory region sequence-specific DNA binding] GO:0000981[DNA-binding transcription factor activity, RNA polymerase II-specific] GO:0001093[TFIIB-class transcription factor binding] GO:0001221[transcription coregulator binding] GO:0001222[transcription corepressor binding] GO:0001223[transcription coactivator binding] GO:0001228[DNA-binding transcription activator activity, RNA polymerase II-specific] GO:0003676[nucleic acid binding] GO:0003677[DNA binding] GO:0003682[chromatin binding] GO:0003700[DNA-binding transcription factor activity] GO:0003707[nuclear steroid receptor activity] GO:0004879[nuclear receptor activity] GO:0005496[steroid binding] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005667[transcription regulator complex] GO:0005737[cytoplasm] GO:0005794[Golgi apparatus] GO:0005829[cytosol] GO:0005886[plasma membrane] GO:0006338[chromatin remodeling] GO:0006351[DNA-templated transcription] GO:0006355[regulation of DNA-templated transcription] GO:0006357[regulation of transcription by RNA polymerase II] GO:0007165[signal transduction] GO:0007200[phospholipase C-activating G protein-coupled receptor signaling pathway] GO:0007204[positive regulation of cytosolic calcium ion concentration] GO:0008013[beta-catenin binding] GO:0008270[zinc ion binding] GO:0008289[lipid binding] GO:0010629[negative regulation of gene expression] GO:0010863[positive regulation of phospholipase C activity] GO:0016020[membrane] GO:0017025[TBP-class protein binding] GO:0019899[enzyme binding] GO:0019901[protein kinase binding] GO:0030235[nitric-oxide synthase regulator activity] GO:0030284[nuclear estrogen receptor activity] GO:0030331[nuclear estrogen receptor binding] GO:0030518[intracellular steroid hormone receptor signaling pathway] GO:0030520[intracellular estrogen receptor signaling pathway] GO:0030522[intracellular receptor signaling pathway] GO:0032355[response to estradiol] GO:0032991[protein-containing complex] GO:0034056[estrogen response element binding] GO:0042802[identical protein binding] GO:0043124[negative regulation of I-kappaB kinase/NF-kappaB signaling] GO:0043401[steroid hormone mediated signaling pathway] GO:0043433[negative regulation of DNA-binding transcription factor activity] GO:0043565[sequence-specific DNA binding] GO:0043627[response to estrogen] GO:0045893[positive regulation of DNA-templated transcription] GO:0045899[positive regulation of RNA polymerase II transcription preinitiation complex assembly] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0046872[metal ion binding] GO:0051091[positive regulation of DNA-binding transcription factor activity] GO:0051117[ATPase binding] GO:0071168[protein localization to chromatin] GO:0071392[cellular response to estradiol stimulus] GO:0097550[transcription preinitiation complex] GO:1902894[negative regulation of miRNA transcription] GO:1990837[sequence-specific double-stranded DNA binding]
Q9UE35 [Direct mapping] Estrogen receptor; Estrogen receptor protein
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Nuclear receptors Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Missense Mutations Human disease related genes Cancers Cancers of the breast and female genital organs Cardiovascular diseases Cardiac diseases Endocrine and metabolic diseases Gonadal diseases
Nuclear receptors Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Missense Mutations Human disease related genes Cancers Cancers of the breast and female genital organs Cardiovascular diseases Cardiac diseases Endocrine and metabolic diseases Gonadal diseases
The Human Protein Atlas project is funded
