This gene encodes a multi-pass membrane protein that localizes to the endoplasmic reticulum and a member of the G-protein coupled receptor 1 family. This receptor binds estrogen and activates multiple downstream signaling pathways, leading to stimulation of adenylate cyclase and an increase in cyclic AMP levels, while also promoting intracellular calcium mobilization and synthe... See more...

Aliases for GPER1 Gene

Aliases for GPER1 Gene

  • G Protein-Coupled Estrogen Receptor 1 2 3 4 5
  • Flow-Induced Endothelial G-Protein Coupled Receptor 1 3 4
  • Lymphocyte-Derived G-Protein Coupled Receptor 3 4
  • G-Protein Coupled Estrogen Receptor 1 3 4
  • Chemoattractant Receptor-Like 2 3 4
  • G Protein-Coupled Receptor 30 2 3
  • Membrane Estrogen Receptor 3 4
  • IL8-Related Receptor DRY12 3 4
  • GPCR-Br 3 4
  • CMKRL2 3 4
  • GPR30 3 4
  • DRY12 3 4
  • FEG-1 3 4
  • GPER 3 4
  • CEPR 3 4
  • MER 3 4
  • Constitutively Expressed Peptide-Like Receptor 3
  • G-Protein Coupled Receptor 30 4
  • Chemokine Receptor-Like 2 3
  • Heptahelix Receptor 3
  • LERGU2 3
  • LERGU 3
  • LyGPR 3
  • LYGPR 4

External Ids for GPER1 Gene

Previous HGNC Symbols for GPER1 Gene

  • CMKRL2
  • GPR30
  • GPER

Previous GeneCards Identifiers for GPER1 Gene

  • GC07P001122
  • GC07P001101

Summaries for GPER1 Gene

Entrez Gene Summary for GPER1 Gene

  • This gene encodes a multi-pass membrane protein that localizes to the endoplasmic reticulum and a member of the G-protein coupled receptor 1 family. This receptor binds estrogen and activates multiple downstream signaling pathways, leading to stimulation of adenylate cyclase and an increase in cyclic AMP levels, while also promoting intracellular calcium mobilization and synthesis of phosphatidylinositol 3,4,5-trisphosphate in the nucleus. This protein therefore plays a role in the rapid nongenomic signaling events widely observed following stimulation of cells and tissues with estrogen. This receptor has been shown to play a role in diverse biological processes, including bone and nervous system development, metabolism, cognition, male fertility and uterine function. [provided by RefSeq, Aug 2017]

GeneCards Summary for GPER1 Gene

GPER1 (G Protein-Coupled Estrogen Receptor 1) is a Protein Coding gene. Diseases associated with GPER1 include Estrogen-Receptor Negative Breast Cancer and Teeth Hard Tissue Disease. Among its related pathways are Signaling by GPCR and Glioma. Gene Ontology (GO) annotations related to this gene include G protein-coupled receptor activity and steroid binding. An important paralog of this gene is GPR182.

UniProtKB/Swiss-Prot Summary for GPER1 Gene

  • G-protein coupled estrogen receptor that binds to 17-beta-estradiol (E2) with high affinity, leading to rapid and transient activation of numerous intracellular signaling pathways. Stimulates cAMP production, calcium mobilization and tyrosine kinase Src inducing the release of heparin-bound epidermal growth factor (HB-EGF) and subsequent transactivation of the epidermal growth factor receptor (EGFR), activating downstream signaling pathways such as PI3K/Akt and ERK/MAPK. Mediates pleiotropic functions among others in the cardiovascular, endocrine, reproductive, immune and central nervous systems. Has a role in cardioprotection by reducing cardiac hypertrophy and perivascular fibrosis in a RAMP3-dependent manner. Regulates arterial blood pressure by stimulating vasodilation and reducing vascular smooth muscle and microvascular endothelial cell proliferation. Plays a role in blood glucose homeostasis contributing to the insulin secretion response by pancreatic beta cells. Triggers mitochondrial apoptosis during pachytene spermatocyte differentiation. Stimulates uterine epithelial cell proliferation. Enhances uterine contractility in response to oxytocin. Contributes to thymic atrophy by inducing apoptosis. Attenuates TNF-mediated endothelial expression of leukocyte adhesion molecules. Promotes neuritogenesis in developing hippocampal neurons. Plays a role in acute neuroprotection against NMDA-induced excitotoxic neuronal death. Increases firing activity and intracellular calcium oscillations in luteinizing hormone-releasing hormone (LHRH) neurons. Inhibits early osteoblast proliferation at growth plate during skeletal development. Inhibits mature adipocyte differentiation and lipid accumulation. Involved in the recruitment of beta-arrestin 2 ARRB2 at the plasma membrane in epithelial cells. Functions also as a receptor for aldosterone mediating rapid regulation of vascular contractibility through the PI3K/ERK signaling pathway. Involved in cancer progression regulation. Stimulates cancer-associated fibroblast (CAF) proliferation by a rapid genomic response through the EGFR/ERK transduction pathway. Associated with EGFR, may act as a transcription factor activating growth regulatory genes (c-fos, cyclin D1). Promotes integrin alpha-5/beta-1 and fibronectin (FN) matrix assembly in breast cancer cells.

Gene Wiki entry for GPER1 Gene

Additional gene information for GPER1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GPER1 Gene

Genomics for GPER1 Gene

GeneHancer (GH) Regulatory Elements for GPER1 Gene

Promoters and enhancers for GPER1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GPER1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GPER1

Genomic Locations for GPER1 Gene

Genomic Locations for GPER1 Gene
chr7:1,082,208-1,093,815
(GRCh38/hg38)
Size:
11,608 bases
Orientation:
Plus strand
chr7:1,121,844-1,133,451
(GRCh37/hg19)
Size:
11,608 bases
Orientation:
Plus strand

Genomic View for GPER1 Gene

Genes around GPER1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GPER1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GPER1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GPER1 Gene

Proteins for GPER1 Gene

  • Protein details for GPER1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q99527-GPER1_HUMAN
    Recommended name:
    G-protein coupled estrogen receptor 1
    Protein Accession:
    Q99527
    Secondary Accessions:
    • A8K6C5
    • B5BUJ1
    • O00143
    • O43494
    • Q13631
    • Q6FHL1
    • Q96F42
    • Q99981

    Protein attributes for GPER1 Gene

    Size:
    375 amino acids
    Molecular mass:
    42248 Da
    Quaternary structure:
    • Homodimer (Probable). Heterodimer; heterodimerizes with other G-protein-coupled receptor (GPCRs) like CRHR1, HTR1A and PAQR8. Interacts (via C-terminus tail motif) with DLG4 (via N-terminus tandem pair of PDZ domains); the interaction is direct and induces the increase of GPER1 protein levels residing at the plasma membrane surface in a estradiol-independent manner (By similarity). Interacts with RAMP3. Interacts with KRT7 and KRT8. Interacts with EGFR; the interaction increases after agonist-induced stimulation in cancer-associated fibroblasts (CAF). Interacts with EGFR and ESR1.
    Miscellaneous:
    • Does not bind estradiol according to PubMed:18566127 and PubMed:16645038.

neXtProt entry for GPER1 Gene

Post-translational modifications for GPER1 Gene

  • Ubiquitinated; ubiquitination occurs at the plasma membrane and leads to proteasome-mediated degradation.
  • Glycosylated.
  • Glycosylation at Asn25, Asn32, and Asn44
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for GPER1 Gene

Domains & Families for GPER1 Gene

Gene Families for GPER1 Gene

HGNC:
Human Protein Atlas (HPA):
  • G-protein coupled receptors
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Transporters

Protein Domains for GPER1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for GPER1 Gene

GenScript: Design optimal peptide antigens:
  • Membrane estrogen receptor (GPER_HUMAN)
  • GPER protein (Q63ZY2_HUMAN)
  • GPR30 protein (Q6FHU6_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q99527

UniProtKB/Swiss-Prot:

GPER1_HUMAN :
  • Belongs to the G-protein coupled receptor 1 family.
Family:
  • Belongs to the G-protein coupled receptor 1 family.
genes like me logo Genes that share domains with GPER1: view

Function for GPER1 Gene

Molecular function for GPER1 Gene

UniProtKB/Swiss-Prot Function:
G-protein coupled estrogen receptor that binds to 17-beta-estradiol (E2) with high affinity, leading to rapid and transient activation of numerous intracellular signaling pathways. Stimulates cAMP production, calcium mobilization and tyrosine kinase Src inducing the release of heparin-bound epidermal growth factor (HB-EGF) and subsequent transactivation of the epidermal growth factor receptor (EGFR), activating downstream signaling pathways such as PI3K/Akt and ERK/MAPK. Mediates pleiotropic functions among others in the cardiovascular, endocrine, reproductive, immune and central nervous systems. Has a role in cardioprotection by reducing cardiac hypertrophy and perivascular fibrosis in a RAMP3-dependent manner. Regulates arterial blood pressure by stimulating vasodilation and reducing vascular smooth muscle and microvascular endothelial cell proliferation. Plays a role in blood glucose homeostasis contributing to the insulin secretion response by pancreatic beta cells. Triggers mitochondrial apoptosis during pachytene spermatocyte differentiation. Stimulates uterine epithelial cell proliferation. Enhances uterine contractility in response to oxytocin. Contributes to thymic atrophy by inducing apoptosis. Attenuates TNF-mediated endothelial expression of leukocyte adhesion molecules. Promotes neuritogenesis in developing hippocampal neurons. Plays a role in acute neuroprotection against NMDA-induced excitotoxic neuronal death. Increases firing activity and intracellular calcium oscillations in luteinizing hormone-releasing hormone (LHRH) neurons. Inhibits early osteoblast proliferation at growth plate during skeletal development. Inhibits mature adipocyte differentiation and lipid accumulation. Involved in the recruitment of beta-arrestin 2 ARRB2 at the plasma membrane in epithelial cells. Functions also as a receptor for aldosterone mediating rapid regulation of vascular contractibility through the PI3K/ERK signaling pathway. Involved in cancer progression regulation. Stimulates cancer-associated fibroblast (CAF) proliferation by a rapid genomic response through the EGFR/ERK transduction pathway. Associated with EGFR, may act as a transcription factor activating growth regulatory genes (c-fos, cyclin D1). Promotes integrin alpha-5/beta-1 and fibronectin (FN) matrix assembly in breast cancer cells.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: Note=Binds 17-beta-estradiol (E2) in plasma membranes with high affinity (Kd is 3.3 nM) and displays rapid kinetics of association and dissociation. {ECO:0000269 PubMed:15539556, ECO:0000269 PubMed:15705806, ECO:0000269 PubMed:19931550};
UniProtKB/Swiss-Prot Induction:
Up-regulated by EGF and TGF-alpha in endometrial, ovarian and breast tumor cells. Up-regulated by progestin and by phorbol 12-myristate 13-acetate (PMA) in breast cancer cell lines.

Phenotypes From GWAS Catalog for GPER1 Gene

Gene Ontology (GO) - Molecular Function for GPER1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003682 chromatin binding IDA 20551055
GO:0003707 steroid hormone receptor activity ISS --
GO:0004930 G protein-coupled receptor activity IEA --
GO:0005496 steroid binding IDA 15539556
GO:0005515 protein binding IPI 20551055
genes like me logo Genes that share ontologies with GPER1: view
genes like me logo Genes that share phenotypes with GPER1: view

Animal Models for GPER1 Gene

MGI Knock Outs for GPER1:

Animal Model Products

  • Taconic Biosciences Mouse Models for GPER1

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GPER1

Clone Products

  • Addgene plasmids for GPER1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for GPER1 Gene

Localization for GPER1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GPER1 Gene

Nucleus. Cytoplasm. Cytoplasm, perinuclear region. Cytoplasm, cytoskeleton. Cell membrane; Multi-pass membrane protein. Basolateral cell membrane; Multi-pass membrane protein. Cytoplasmic vesicle membrane; Multi-pass membrane protein. Early endosome. Recycling endosome. Golgi apparatus membrane; Multi-pass membrane protein. Golgi apparatus, trans-Golgi network. Endoplasmic reticulum membrane; Multi-pass membrane protein. Cell projection, dendrite. Cell projection, dendritic spine membrane; Multi-pass membrane protein. Cell projection, axon. Cell junction, synapse, postsynaptic density. Mitochondrion membrane; Multi-pass membrane protein. Note=Colocalized with BSN to the active zone of presynaptic density. Colocalized with DLG4/PSD95 and neurabin-2 PPP1R9B in neuronal synaptosomes (By similarity). Endocytosed in a agonist- and arrestin-independent manner. Colocalized with RAMP3 and clathrin-coated pits at the plasma membrane. Colocalized with transferrin receptor at the plasma membrane and perinuclear region. Accumulated and colocalized with RAB11 proteins in recycling endosomes and trans-Golgi network (TGN), but does neither recycle back to the cell surface nor traffics to late endosome or lysosome. Colocalized with calnexin in the endoplasmic reticulum. Traffics to intracellular sites via cytokeratin intermediate filaments like KRT7 and KRT8 after constitutive endocytosis in epithelial cells. Colocalized with EGFR in the nucleus of agonist-induced cancer-associated fibroblasts (CAF). {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GPER1 gene
Compartment Confidence
plasma membrane 5
cytoskeleton 5
nucleus 5
endoplasmic reticulum 5
endosome 5
golgi apparatus 5
mitochondrion 4
extracellular 2
cytosol 2
peroxisome 1
lysosome 1

Gene Ontology (GO) - Cellular Components for GPER1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IEA --
GO:0005623 cell IEA --
GO:0005634 nucleus IEA,IDA 20551055
GO:0005635 nuclear envelope IDA 15705806
GO:0005737 cytoplasm ISS --
genes like me logo Genes that share ontologies with GPER1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for GPER1 Gene

Pathways & Interactions for GPER1 Gene

genes like me logo Genes that share pathways with GPER1: view

SIGNOR curated interactions for GPER1 Gene

Activates:

Gene Ontology (GO) - Biological Process for GPER1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001934 positive regulation of protein phosphorylation ISS --
GO:0001956 positive regulation of neurotransmitter secretion ISS --
GO:0002376 immune system process IEA --
GO:0002695 negative regulation of leukocyte activation IDA 23285008
GO:0006915 apoptotic process IEA --
genes like me logo Genes that share ontologies with GPER1: view

Drugs & Compounds for GPER1 Gene

(36) Drugs for GPER1 Gene - From: DrugBank, ApexBio, DGIdb, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Estradiol Approved, Investigational, Vet_approved Pharma Target Sex hormone 1393
Estradiol cypionate Approved, Investigational, Vet_approved Pharma Target 0
Fulvestrant Approved, Investigational Pharma Antagonist, inhibitor, antagonist Estrogen receptor antagonist,high affinity, Hormone therapy 277
Estradiol acetate Approved, Investigational, Vet_approved Pharma Target 0
estradiol benzoate Approved, Investigational, Vet_approved Pharma Target 0

(2) Additional Compounds for GPER1 Gene - From: Novoseek and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
G-15
1161002-05-6

(3) Tocris Compounds for GPER1 Gene

Compound Action Cas Number
G-1 Potent and selective GPER agonist 881639-98-1
G-15 High affinity and selective GPER antagonist 1161002-05-6
G-36 Selective GPER antagonist 1392487-51-2

(19) ApexBio Compounds for GPER1 Gene

Compound Action Cas Number
Altrenogest 850-52-2
Bazedoxifene HCl 198480-56-7
Clomiphene citrate 50-41-9
Equol 531-95-3
Estradiol Sex hormone 50-28-2
Estradiol Cypionate 313-06-4
Estriol 50-27-1
Estrone Estrogenic hormone 53-16-7
Ethinyl Estradiol Oral contraceptive 57-63-6
Ethisterone Progestogen hormone 434-03-7
Ethynodiol diacetate 297-76-7
Fulvestrant Estrogen receptor antagonist,high affinity 129453-61-8
Gestodene 60282-87-3
Hexestrol 84-16-2
Medroxyprogesterone acetate Steroidal progestin 71-58-9
Ospemifene 128607-22-7
Raloxifene HCl Estrogen receptor (ER) 82640-04-8
Tamoxifen Citrate Antiestrogen drug 54965-24-1
Toremifene Citrate 89778-27-8
genes like me logo Genes that share compounds with GPER1: view

Drug Products

Transcripts for GPER1 Gene

mRNA/cDNA for GPER1 Gene

4 REFSEQ mRNAs :
18 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GPER1

Clone Products

  • Addgene plasmids for GPER1

Alternative Splicing Database (ASD) splice patterns (SP) for GPER1 Gene

No ASD Table

Relevant External Links for GPER1 Gene

GeneLoc Exon Structure for
GPER1

Expression for GPER1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for GPER1 Gene

mRNA differential expression in normal tissues according to GTEx for GPER1 Gene

This gene is overexpressed in Stomach (x4.1).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GPER1

mRNA Expression by UniProt/SwissProt for GPER1 Gene:

Q99527-GPER1_HUMAN
Tissue specificity: Expressed in placenta, endothelial and epithelial cells, non laboring and laboring term myometrium, fibroblasts and cancer-associated fibroblasts (CAF), prostate cancer cells and invasive adenocarcinoma (at protein level). Ubiquitously expressed, but is most abundant in placenta. In brain regions, expressed as a 2.8 kb transcript in basal forebrain, frontal cortex, thalamus, hippocampus, caudate and putamen.

Evidence on tissue expression from TISSUES for GPER1 Gene

  • Liver(4.3)
  • Nervous system(2.8)
  • Muscle(2.4)
  • Heart(2.3)
genes like me logo Genes that share expression patterns with GPER1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for GPER1 Gene

Orthologs for GPER1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for GPER1 Gene

Organism Taxonomy Gene Similarity Type Details
dog
(Canis familiaris)
Mammalia GPER1 31 30
  • 86.49 (n)
OneToOne
cow
(Bos Taurus)
Mammalia GPER 30
  • 85.05 (n)
GPER1 31
  • 83 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gper1 17 31 30
  • 84.53 (n)
rat
(Rattus norvegicus)
Mammalia Gper1 30
  • 84 (n)
oppossum
(Monodelphis domestica)
Mammalia GPER1 31
  • 80 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GPER1 31
  • 78 (a)
OneToOne
chicken
(Gallus gallus)
Aves GPER 31 30
  • 71.06 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GPER1 31
  • 79 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gper1 30
  • 67.5 (n)
zebrafish
(Danio rerio)
Actinopterygii gper1 31 30
  • 71.2 (n)
OneToOne
Species where no ortholog for GPER1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chimpanzee (Pan troglodytes)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for GPER1 Gene

ENSEMBL:
Gene Tree for GPER1 (if available)
TreeFam:
Gene Tree for GPER1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for GPER1: view image

Paralogs for GPER1 Gene

Paralogs for GPER1 Gene

(5) SIMAP similar genes for GPER1 Gene using alignment to 2 proteins:

  • GPER1_HUMAN
  • C9J3W2_HUMAN
genes like me logo Genes that share paralogs with GPER1: view

Variants for GPER1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GPER1 Gene

SNP ID Clinical significance and condition Chr 07 pos Variation AA Info Type
770179 Benign: not provided 1,091,742(+) C/T MISSENSE_VARIANT,INTRON_VARIANT
rs11544331 - p.Pro16Leu

Additional dbSNP identifiers (rs#s) for GPER1 Gene

Structural Variations from Database of Genomic Variants (DGV) for GPER1 Gene

Variant ID Type Subtype PubMed ID
nsv1032992 CNV gain 25217958
nsv509183 CNV insertion 20534489
nsv5612 CNV insertion 18451855
nsv605705 CNV loss 21841781
nsv605720 CNV loss 21841781
nsv830876 CNV loss 17160897

Variation tolerance for GPER1 Gene

Residual Variation Intolerance Score: 11.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.28; 62.64% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GPER1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
GPER1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GPER1 Gene

Disorders for GPER1 Gene

MalaCards: The human disease database

(17) MalaCards diseases for GPER1 Gene - From: DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search GPER1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for GPER1

genes like me logo Genes that share disorders with GPER1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for GPER1 Gene

Publications for GPER1 Gene

  1. G protein-coupled receptor 30 expression is up-regulated by EGF and TGF alpha in estrogen receptor alpha-positive cancer cells. (PMID: 19749156) Vivacqua A … Maggiolini M (Molecular endocrinology (Baltimore, Md.) 2009) 3 4 23 54
  2. Coordinate regulation of estrogen-mediated fibronectin matrix assembly and epidermal growth factor receptor transactivation by the G protein-coupled receptor, GPR30. (PMID: 19342448) Quinn JA … Filardo EJ (Molecular endocrinology (Baltimore, Md.) 2009) 3 4 23 54
  3. G protein-coupled receptor 30 localizes to the endoplasmic reticulum and is not activated by estradiol. (PMID: 18566127) Otto C … Fritzemeier KH (Endocrinology 2008) 3 4 23 54
  4. Identity of an estrogen membrane receptor coupled to a G protein in human breast cancer cells. (PMID: 15539556) Thomas P … Dong J (Endocrinology 2005) 3 4 23 54
  5. Progestin upregulates G-protein-coupled receptor 30 in breast cancer cells. (PMID: 12027886) Ahola TM … Ylikomi T (European journal of biochemistry 2002) 3 4 23 54

Products for GPER1 Gene

  • Addgene plasmids for GPER1

Sources for GPER1 Gene