{ "uniprot_canonical_ac": "O95977-1", "uniprot_ac": "O95977", "uniprot_id": "S1PR4_HUMAN", "mass": { "chemical_mass": 41623.0, "monoisotopic_mass": 41623.0 }, "refseq": { "ac": "NP_003766", "name": "sphingosine 1-phosphate receptor 4 precursor", "summary": "This gene is a member of the endothelial differentiation, G-protein-coupled (EDG)) receptor gene family. EDG receptors bind lysophospholipids or lysosphingolipids as ligands, and are involved in cell signalling in many different cell types. This EDG receptor gene is intronless and is specifically expressed in the lymphoid tissue. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003766" }, "gene_names": [ { "name": "S1PR4", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O95977", "id": "O95977" }, { "name": "EDG6; LPC1; S1P4; SLP4", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003766", "id": "NP_003766" }, { "name": "EDG6", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O95977", "id": "O95977" }, { "name": "S1PR4", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003766", "id": "NP_003766" } ], "protein_names": [ { "name": "Sphingosine 1-phosphate receptor 4", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O95977" }, { "name": "Endothelial differentiation G-protein coupled receptor 6", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95977" }, { "name": "S1P receptor 4", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95977" }, { "name": "S1P receptor Edg-6", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95977" }, { "name": "S1P4", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95977" }, { "name": "Sphingosine 1-phosphate receptor Edg-6", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95977" }, { "name": "endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 6; sphingosine 1-phosphate receptor Edg-6; S1P receptor 4; S1P receptor Edg-6; endothelial differentiation G-protein coupled receptor 6", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003766", "id": "NP_003766" }, { "name": "sphingosine 1-phosphate receptor 4 precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003766", "id": "NP_003766" } ], "function": [ { "annotation": "NCF2, MYO1F, S1PR4, and FCN1 as potential noninvasive diagnostic biomarkers in patients with obstructive coronary artery: A weighted gene co-expression network analysis.", "evidence": [ { "database": "RefSeq", "id": "NP_003766", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003766" }, { "database": "PubMed", "id": "31245869", "url": "https://glygen.org/publication/PubMed/31245869" } ] }, { "annotation": "Receptor for the lysosphingolipid sphingosine 1-phosphate (S1P). S1P is a bioactive lysophospholipid that elicits diverse physiological effect on most types of cells and tissues. May be involved in cell migration processes that are specific for lymphocytes.", "evidence": [ { "database": "UniProtKB", "id": "O95977", "url": "https://www.uniprot.org/uniprot/O95977#function" }, { "database": "PubMed", "id": "10679247", "url": "https://glygen.org/publication/PubMed/10679247" }, { "database": "PubMed", "id": "10753843", "url": "https://glygen.org/publication/PubMed/10753843" } ] }, { "annotation": "Silence of S1PR4 Represses the Activation of Fibroblast-like Synoviocytes by Regulating IL-17/STAT3 Signaling Pathway.", "evidence": [ { "database": "RefSeq", "id": "NP_003766", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003766" }, { "database": "PubMed", "id": "36068391", "url": "https://glygen.org/publication/PubMed/36068391" } ] }, { "annotation": "T cell S1PR1 and S1PR4, and lymphatic endothelial cell (LEC) S1PR2, were required for migration across LECs and into lymphatic vessels and lymph nodes. S1PR1 and S1PR4 differentially regulated T cell motility and vascular cell adhesion molecule-1 (VCAM-1) binding. S1PR2 regulated LEC layer structure, permeability, and expression of the junction molecules VE-cadherin, occludin, and zonulin-1 through the ERK pathway.", "evidence": [ { "database": "RefSeq", "id": "NP_003766", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003766" }, { "database": "PubMed", "id": "30877143", "url": "https://glygen.org/publication/PubMed/30877143" } ] }, { "annotation": "The sphingosine 1-phosphate receptor 2/4 antagonist JTE-013 elicits off-target effects on sphingolipid metabolism. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_003766", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003766" }, { "database": "PubMed", "id": "35013382", "url": "https://glygen.org/publication/PubMed/35013382" } ] }, { "annotation": "This gene is a member of the endothelial differentiation, G-protein-coupled (EDG)) receptor gene family. EDG receptors bind lysophospholipids or lysosphingolipids as ligands, and are involved in cell signalling in many different cell types. This EDG receptor gene is intronless and is specifically expressed in the lymphoid tissue. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_003766", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003766" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "O95977", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O95977" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 158, "end_pos": 158, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "K", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (KTS->NTS).", "chr_id": "19", "chr_pos": "3179266", "ref_nt": "G", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "K158", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1314060234", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1314060234" }, { "id": "rs1314060234", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1314060234" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 2, "end_pos": 2, "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NAT->DAT).", "chr_id": "19", "chr_pos": "3178796", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N2", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1189566587", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1189566587" }, { "id": "rs1189566587", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1189566587#frequency_tab" }, { "id": "rs1189566587", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1189566587" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 2, "end_pos": 2, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NAT->SAT).", "chr_id": "19", "chr_pos": "3178797", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N2", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1424739411", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1424739411" }, { "id": "rs1424739411", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1424739411#frequency_tab" }, { "id": "rs1424739411", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1424739411" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 32, "end_pos": 32, "sequence_org": "S", "sequence_mut": "L", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NHS->NHL).", "chr_id": "19", "chr_pos": "3178887", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S32", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs370140415", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs370140415" }, { "id": "rs370140415", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs370140415" }, { "id": "rs370140415", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs370140415" }, { "id": "rs370140415", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs370140415#frequency_tab" }, { "id": "rs370140415", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs370140415" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 352, "end_pos": 352, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DSS->NSS).", "chr_id": "19", "chr_pos": "3179846", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "0.0002", "site_lbl": "D352", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs538746674", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs538746674" }, { "id": "rs538746674", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs538746674" }, { "id": "rs538746674", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs538746674" }, { "id": "rs538746674", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs538746674#frequency_tab" }, { "id": "rs538746674", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs538746674" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 4, "end_pos": 4, "sequence_org": "T", "sequence_mut": "M", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NAT->NAM).", "chr_id": "19", "chr_pos": "3178803", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "0.0002", "site_lbl": "T4", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "68.45", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000125910", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000125910" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "68.53", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000125910", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000125910" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "70.06", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000125910", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000125910" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "80.63", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000125910", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000125910" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "64.59", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000125910", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000125910" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "62.1", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000125910", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000125910" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "76.57", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000125910", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000125910" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "65.8", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000125910", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000125910" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "69.28", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000125910", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000125910" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "75.82", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000125910", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000125910" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "64.15", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000125910", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000125910" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "61.28", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000125910", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000125910" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "67.28", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000125910", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000125910" } ] } ], "expression_disease": [ { "significant": "No", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O95977", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95977" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new 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"https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL 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Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O95977", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95977" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95977" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "No", "trend": "down", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ 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Murakami-Murofushi K, Tsujimoto M, Arai H, Inoue K", "evidence": [ { "database": "Reactome", "id": "R-HSA-419408", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-419408" } ], "reference": [ { "type": "PubMed", "id": "10488122", "url": "https://glygen.org/publication/PubMed/10488122" } ] }, { "title": "Sphingosine 1-phosphate-induced cell proliferation, survival, and related signaling events mediated by G protein-coupled receptors Edg3 and Edg5.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "An S, Zheng Y, Bleu T", "evidence": [ { "database": "Reactome", "id": "R-HSA-419408", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-419408" } ], "reference": [ { "type": "PubMed", "id": "10617617", "url": "https://glygen.org/publication/PubMed/10617617" } ] }, { "title": "Edg-6 as a putative sphingosine 1-phosphate receptor coupling to Ca(2+) signaling pathway.", "journal": "Biochemical and biophysical research communications", "date": "2000-02-16", 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"journal": "Cell", "date": "2000", "authors": "Ma YC, Huang J, Ali S, Lowry W, Huang XY", "evidence": [ { "database": "Reactome", "id": "R-HSA-418594", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418594" } ], "reference": [ { "type": "PubMed", "id": "11007482", "url": "https://glygen.org/publication/PubMed/11007482" } ] }, { "title": "Regulators of G-protein signalling as new central nervous system drug targets.", "journal": "Nature reviews. 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Savaskan NE, Kuhn H, Prehn S, Ninnemann O, Nitsch R", "evidence": [ { "database": "Reactome", "id": "R-HSA-419408", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-419408" } ], "reference": [ { "type": "PubMed", "id": "12730698", "url": "https://glygen.org/publication/PubMed/12730698" } ] }, { "title": "The GAPs, GEFs, and GDIs of heterotrimeric G-protein alpha subunits.", "journal": "International journal of biological sciences", "date": "2005", "authors": "Siderovski DP, Willard FS", "evidence": [ { "database": "Reactome", "id": "R-HSA-418594", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418594" } ], "reference": [ { "type": "PubMed", "id": "15951850", "url": "https://glygen.org/publication/PubMed/15951850" } ] }, { "title": "The vertebrate phototransduction cascade: amplification and termination mechanisms.", "journal": "Reviews of physiology, biochemistry and pharmacology", "date": "2005", "authors": "Chen CK", "evidence": [ { "database": "Reactome", "id": 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