{ "uniprot_canonical_ac": "O15547-1", "uniprot_ac": "O15547", "uniprot_id": "P2RX6_HUMAN", "mass": { "chemical_mass": 48829.0, "monoisotopic_mass": 48829.0 }, "refseq": { "ac": "NP_001153026", "name": "P2X purinoceptor 6 isoform 2", "summary": "The protein encoded by this gene belongs to the family of P2X receptors, which are ATP-gated ion channels and mediate rapid and selective permeability to cations. This gene is predominantly expressed in skeletal muscle, and regulated by p53. The encoded protein is associated with VE-cadherin at the adherens junctions of human umbilical vein endothelial cells. Alternative splicing results in multiple transcript variants. A related pseudogene, which is also located on chromosome 22, has been identified. [provided by RefSeq, Apr 2009].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001153026" }, "gene_names": [ { "name": "P2RX6", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O15547", "id": "O15547" }, { "name": "P2RX6", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001153026", "id": "NP_001153026" }, { "name": "P2RXL1; P2X6; P2XM", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001153026", "id": "NP_001153026" }, { "name": "P2RXL1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O15547", "id": "O15547" }, { "name": "P2X6", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O15547", "id": "O15547" } ], "protein_names": [ { "name": "P2X purinoceptor 6", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O15547" }, { "name": "ATP receptor", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O15547" }, { "name": "P2X purinoceptor 6 isoform 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001153026", "id": "NP_001153026" }, { "name": "P2X6", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O15547" }, { "name": "P2XM", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O15547" }, { "name": "Purinergic receptor P2X-like 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O15547" }, { "name": "Purinergic receptor", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O15547" }, { "name": "purinergic receptor P2X-like 1, orphan receptor; skeletal muscle-expressed P2X; ATP receptor; purinoceptor P2X6; P2X purinoceptor 6; purinoreceptor P2X6; purinergic receptor P2X, ligand gated ion channel, 6", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001153026", "id": "NP_001153026" } ], "function": [ { "annotation": "Observational study of gene-disease association. (HuGE Navigator)", "evidence": [ { "database": "RefSeq", "id": "NP_001153026", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001153026" }, { "database": "PubMed", "id": "19240061", "url": "https://glygen.org/publication/PubMed/19240061" }, { "database": "PubMed", "id": "19023099", "url": "https://glygen.org/publication/PubMed/19023099" }, { "database": "PubMed", "id": "18852390", "url": "https://glygen.org/publication/PubMed/18852390" } ] }, { "annotation": "One subunit of P2X2 and two subunits of P2X3 form P2X2/3 heteromeric receptors, whereas two subunits of P2X2 and one subunit of P2X6 constitute P2X2/6 receptors", "evidence": [ { "database": "RefSeq", "id": "NP_001153026", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001153026" }, { "database": "PubMed", "id": "22378790", "url": "https://glygen.org/publication/PubMed/22378790" } ] }, { "annotation": "P2X(2) receptors are trimers, whereas the P2X(6) receptor subunits do not form stable oligomers", "evidence": [ { "database": "RefSeq", "id": "NP_001153026", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001153026" }, { "database": "PubMed", "id": "15657042", "url": "https://glygen.org/publication/PubMed/15657042" } ] }, { "annotation": "Receptor for ATP that acts as a ligand-gated ion channel.", "evidence": [ { "database": "UniProtKB", "id": "O15547", "url": "https://www.uniprot.org/uniprot/O15547#function" } ] }, { "annotation": "Results show that P2X4 and P2X6 receptors are associated with VE-cadherin at HUVEC adherens junctions.", "evidence": [ { "database": "RefSeq", "id": "NP_001153026", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001153026" }, { "database": "PubMed", "id": "12088286", "url": "https://glygen.org/publication/PubMed/12088286" } ] }, { "annotation": "The protein encoded by this gene belongs to the family of P2X receptors, which are ATP-gated ion channels and mediate rapid and selective permeability to cations. This gene is predominantly expressed in skeletal muscle, and regulated by p53. The encoded protein is associated with VE-cadherin at the adherens junctions of human umbilical vein endothelial cells. Alternative splicing results in multiple transcript variants. A related pseudogene, which is also located on chromosome 22, has been identified. [provided by RefSeq, Apr 2009].", "evidence": [ { "database": "RefSeq", "id": "NP_001153026", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001153026" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "O15547", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O15547" } ], "glycoeffect": [], "start_pos": 218, "end_pos": 218, "subjects_tested": "57", "subjects_positive": "1", "frequency": "1.8", "sequence_org": "E", "sequence_mut": "*", "comment": "Somatic mutation passed 1 out of 6 filters: patient freq. (1.8%).", "chr_id": "22", "chr_pos": "21023288", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E218", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "68.42", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000099957", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000099957" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "51.2", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000099957", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000099957" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "59.92", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000099957", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000099957" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "66.43", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000099957", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000099957" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "60.66", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000099957", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000099957" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "53.63", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000099957", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000099957" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "71.07", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000099957", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000099957" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "52.63", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000099957", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000099957" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "47.6", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000099957", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000099957" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "45.22", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000099957", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000099957" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "65.35", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000099957", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000099957" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "63.29", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000099957", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000099957" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O15547", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15547" } ], "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 growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "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": "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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"name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "No", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O15547", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15547" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "No", "trend": "up", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "O15547", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15547" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "O15547", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15547" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "O15547", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15547" } ], "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": 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"MCPQLAGAGSMGSPGATTGWGLLDYKTEKYVMTRNWRVGALQRLLQFGIVVYVVGWALLAKKGYQERDLEPQFSIITKLKGVSVTQIKELGNRLWDVADFVKPPQGENVFFLVTNFLVTPAQVQGRCPEHPSVPLANCWVDEDCPEGEGGTHSHGVKTGQCVVFNGTHRTCEIWSWCPVESGVVPSRPLLAQAQNFTLFIKNTVTFSKFNFSKSNALETWDPTYFKHCRYEPQFSPYCPVFRIGDLVAKAGGTFEDLALLGGSVGIRVHWDCDLDTGDSGCWPHYSFQLQEKSYNFRTATHWWEQPGVEARTLLKLYGIRFDILVTGQAGKFGLIPTAVTLGTGAAWLGVVTFFCDLLLLYVDREAHFYWRTKYEEAKAPKATANSVWRELALASQARLAECLRRSSAPAPTATAAGSQTQTPGWPCPSSDTHLPTHSGSL", "length": 441, "header": "sp|O15547-1|P2RX6_HUMAN Isoform 1 of P2X purinoceptor 6 OS=Homo sapiens OX=9606 GN=P2RX6 PE=1 SV=2 CANONICAL=O15547-1" }, "isoforms": [ { "isoform_ac": "E7ES48-1", "url": "", "sequence": { "sequence": "MCPQLAGAGSMGSPGATTGWGLLDYKTEKWALLAKKGYQERDLEPQFSIITKLKGVSVTQIKELGNRLWDVADFVKPPQV", "length": 80, "header": "tr|E7ES48-1|E7ES48_HUMAN Computationally mapped isoform of Purinergic receptor P2X 6 OS=Homo sapiens OX=9606 GN=P2RX6 PE=3 SV=1 CANONICAL=O15547-1" }, "locus": { "chromosome": "22", "start_pos": 21022944, "end_pos": 21015175, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000442475.5", "url": "https://www.ensembl.org/id/ENST00000442475.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000401192.1", "url": "https://www.ensembl.org/id/ENSP00000401192.1" } ] } }, { "isoform_ac": "H7C140-1", "url": "", "sequence": { "sequence": "XQLAGAGSMGSPGATTGWGLLDYKTEKYVMTRNWRVGALQRLLQFGIVVYVVGWALLAKKGYQERDLEPQFSIITKLKGVSVTQIKELGNRLWDVADFVKPPQAAGFRPFQSTRAQPGQP", "length": 120, "header": "tr|H7C140-1|H7C140_HUMAN Computationally mapped isoform of Purinergic receptor P2X 6 OS=Homo sapiens OX=9606 GN=P2RX6 PE=3 SV=1 CANONICAL=O15547-1" }, "locus": { "chromosome": "22", "start_pos": 21017973, "end_pos": 21015183, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000452228.5", "url": "https://www.ensembl.org/id/ENST00000452228.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000398347.1", "url": "https://www.ensembl.org/id/ENSP00000398347.1" } ] } }, { "isoform_ac": "H7C266-1", "url": "", "sequence": { "sequence": "LAGAGSMGSPGATTGWGLLDYKTEKYVMTRNWRVGALQRLLQFGIVVYVVGSPRQKRLPGAGPGTPVFHHHQTQRGFRHSDQGAWKPAVGCGRLREATSGRERVLLGDQLPCDASPSSGQMPRAPVRPTG", "length": 130, "header": "tr|H7C266-1|H7C266_HUMAN Computationally mapped isoform of Purinergic receptor P2X 6 OS=Homo sapiens OX=9606 GN=P2RX6 PE=4 SV=1 CANONICAL=O15547-1" }, "locus": { "chromosome": "22", "start_pos": 21022695, "end_pos": 21015187, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000432930.5", "url": "https://www.ensembl.org/id/ENST00000432930.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000404223.1", "url": "https://www.ensembl.org/id/ENSP00000404223.1" } ] } }, { "isoform_ac": "H7C2V4-1", "url": "", "sequence": { "sequence": "AGAGSMGSPGATTGWGLLDYKTEKYVMTRNWRVGALQRLLQFGIVVYVVGWALLAKKGYQERDLEPQFSIITKLKGVSVTQIKELGNRLWDVADFVKPPQV", "length": 101, "header": "tr|H7C2V4-1|H7C2V4_HUMAN Computationally mapped isoform of Purinergic receptor P2X 6 OS=Homo sapiens OX=9606 GN=P2RX6 PE=3 SV=1 CANONICAL=O15547-1" }, "locus": { "chromosome": "22", "start_pos": 21022944, "end_pos": 21015190, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000422210.5", "url": "https://www.ensembl.org/id/ENST00000422210.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000407920.1", "url": "https://www.ensembl.org/id/ENSP00000407920.1" } ] } }, { "isoform_ac": "O15547-1", "url": "", "sequence": { "sequence": "MCPQLAGAGSMGSPGATTGWGLLDYKTEKYVMTRNWRVGALQRLLQFGIVVYVVGWALLAKKGYQERDLEPQFSIITKLKGVSVTQIKELGNRLWDVADFVKPPQGENVFFLVTNFLVTPAQVQGRCPEHPSVPLANCWVDEDCPEGEGGTHSHGVKTGQCVVFNGTHRTCEIWSWCPVESGVVPSRPLLAQAQNFTLFIKNTVTFSKFNFSKSNALETWDPTYFKHCRYEPQFSPYCPVFRIGDLVAKAGGTFEDLALLGGSVGIRVHWDCDLDTGDSGCWPHYSFQLQEKSYNFRTATHWWEQPGVEARTLLKLYGIRFDILVTGQAGKFGLIPTAVTLGTGAAWLGVVTFFCDLLLLYVDREAHFYWRTKYEEAKAPKATANSVWRELALASQARLAECLRRSSAPAPTATAAGSQTQTPGWPCPSSDTHLPTHSGSL", "length": 441, "header": "sp|O15547-1|P2RX6_HUMAN Isoform 1 of P2X purinoceptor 6 OS=Homo sapiens OX=9606 GN=P2RX6 PE=1 SV=2 CANONICAL=O15547-1" }, "locus": { "chromosome": "22", "start_pos": 21026614, "end_pos": 21015175, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000413302.7", "url": "https://www.ensembl.org/id/ENST00000413302.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000416193.2", "url": "https://www.ensembl.org/id/ENSP00000416193.2" } ] } }, { "isoform_ac": "O15547-2", "url": "", "sequence": { "sequence": "MCPQLAGAGSMGSPGATTGWGLLDYKTEKWALLAKKGYQERDLEPQFSIITKLKGVSVTQIKELGNRLWDVADFVKPPQGENVFFLVTNFLVTPAQVQGRCPEHPSVPLANCWVDEDCPEGEGGTHSHGVKTGQCVVFNGTHRTCEIWSWCPVESGVVPSRPLLAQAQNFTLFIKNTVTFSKFNFSKSNALETWDPTYFKHCRYEPQFSPYCPVFRIGDLVAKAGGTFEDLALLGGSVGIRVHWDCDLDTGDSGCWPHYSFQLQEKSYNFRTATHWWEQPGVEARTLLKLYGIRFDILVTGQAGKFGLIPTAVTLGTGAAWLGVVTFFCDLLLLYVDREAHFYWRTKYEEAKAPKATANSVWRELALASQARLAECLRRSSAPAPTATAAGSQTQTPGWPCPSSDTHLPTHSGSL", "length": 415, "header": "sp|O15547-2|P2RX6_HUMAN Isoform 2 of P2X purinoceptor 6 OS=Homo sapiens OX=9606 GN=P2RX6 PE=1 SV=2 CANONICAL=O15547-1" }, "locus": { "chromosome": "22", "start_pos": 21026614, "end_pos": 21015175, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000401443.5", "url": "https://www.ensembl.org/id/ENST00000401443.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000385309.1", "url": "https://www.ensembl.org/id/ENSP00000385309.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 165, "start_aa": "Asn", "end_pos": 165, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn165", "evidence": [ { "id": "O15547", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O15547#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 195, "start_aa": "Asn", "end_pos": 195, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn195", "evidence": [ { "id": "O15547", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O15547#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 210, "start_aa": "Asn", "end_pos": 210, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn210", "evidence": [ { "id": "O15547", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O15547#ptm_processing" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "O15547", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O15547" }, { "id": "28411811", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28411811" } ] } ], "phosphorylation": [ { "start_pos": 64, "end_pos": 64, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "Phosphotyrosine", "evidence": [ { "database": "UniProtKB", "id": "O15547", "url": "https://www.uniprot.org/uniprot/O15547" }, { "database": "PubMed", "id": "12112843", "url": "https://glygen.org/publication/PubMed/12112843" }, { "database": "iPTMnet", "id": "O15547", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15547" } ], "site_lbl": "Tyr64" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_predicted", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Single channel properties of P2X2 purinoceptors.", "journal": "The Journal of general physiology", "date": "1999", "authors": "Ding S, Sachs F", "evidence": [ { "database": "Reactome", "id": "R-HSA-418346", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418346" } ], "reference": [ { "type": "PubMed", "id": "10228183", "url": "https://glygen.org/publication/PubMed/10228183" } ] }, { "title": "Cloning and functional expression of human short TRP7, a candidate protein for store-operated Ca2+ influx.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Riccio A, Mattei C, Kelsell RE, Medhurst AD, Calver AR, Randall AD, Davis JB, Benham CD, Pangalos MN", "evidence": [ { "database": "Reactome", "id": "R-HSA-139853", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-139853" } ], "reference": [ { "type": "PubMed", "id": "11805119", "url": "https://glygen.org/publication/PubMed/11805119" } ] }, { "title": "P2X4 and P2X6 receptors associate with VE-cadherin in human endothelial cells.", "journal": "Cellular and molecular life sciences : CMLS", "date": "2002", "authors": "Glass R, Loesch A, Bodin P, Burnstock G", "evidence": [ { "database": "RefSeq", "id": "NP_001153026", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001153026" } ], "reference": [ { "type": "PubMed", "id": "12088286", "url": "https://glygen.org/publication/PubMed/12088286" } ] }, { "title": "Identification of the phosphotyrosine proteome from thrombin activated platelets.", "journal": "Proteomics", "date": "2002", "authors": "Maguire PB, Wynne KJ, Harney DF, O'Donoghue NM, Stephens G, Fitzgerald DJ", "evidence": [ { "database": "UniProtKB", "id": "O15547", "url": "https://www.uniprot.org/uniprot/O15547" }, { "database": "iPTMnet", "id": "O15547", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15547" } ], "reference": [ { "type": "PubMed", "id": "12112843", "url": "https://glygen.org/publication/PubMed/12112843" } ] }, { "title": "Lack of evidence for functional ADP-activated human P2X1 receptors supports a role for ATP during hemostasis and thrombosis.", "journal": "Blood", "date": "2003", "authors": "Vial C, Pitt SJ, Roberts J, Rolf MG, Mahaut-Smith MP, Evans RJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-418346", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418346" } ], "reference": [ { "type": "PubMed", "id": "12907444", "url": "https://glygen.org/publication/PubMed/12907444" } ] }, { "title": "Atomic force microscopy imaging demonstrates that P2X2 receptors are trimers but that P2X6 receptor subunits do not oligomerize.", "journal": "The Journal of biological chemistry", "date": "2005", "authors": "Barrera NP, Ormond SJ, Henderson RM, Murrell-Lagnado RD, Edwardson JM", "evidence": [ { "database": "UniProtKB", "id": "O15547", "url": "https://www.uniprot.org/uniprot/O15547" }, { "database": "RefSeq", "id": "NP_001153026", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001153026" } ], "reference": [ { "type": "PubMed", "id": "15657042", "url": "https://glygen.org/publication/PubMed/15657042" } ] }, { "title": "Ambulatory blood pressure is associated with polymorphic variation in P2X receptor genes.", "journal": "Hypertension (Dallas, Tex. : 1979)", "date": "2008", "authors": "Palomino-Doza J, Rahman TJ, Avery PJ, Mayosi BM, Farrall M, Watkins H, Edwards CR, Keavney B", "evidence": [ { "database": "RefSeq", "id": "NP_001153026", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001153026" } ], "reference": [ { "type": "PubMed", "id": "18852390", "url": "https://glygen.org/publication/PubMed/18852390" } ] }, { "title": "Gene variants associated with ischemic stroke: the cardiovascular health study.", "journal": "Stroke", "date": "2009", "authors": "Luke MM, O'Meara ES, Rowland CM, Shiffman D, Bare LA, Arellano AR, Longstreth WT Jr, Lumley T, Rice K, Tracy RP, Devlin JJ, Psaty BM", "evidence": [ { "database": "RefSeq", "id": "NP_001153026", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001153026" } ], "reference": [ { "type": "PubMed", "id": "19023099", "url": "https://glygen.org/publication/PubMed/19023099" } ] }, { "title": "Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling.", "journal": "Gut", "date": "2009", "authors": "Trynka G, Zhernakova A, Romanos J, Franke L, Hunt KA, Turner G, Bruinenberg M, Heap GA, Platteel M, Ryan AW, de Kovel C, Holmes GK, Howdle PD, Walters JR, Sanders DS, Mulder CJ, Mearin ML, Verbeek WH, Trimble V, Stevens FM, Kelleher D, Barisani D, Bardella MT, McManus R, van Heel DA, Wijmenga C", "evidence": [ { "database": "RefSeq", "id": "NP_001153026", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001153026" } ], "reference": [ { "type": "PubMed", "id": "19240061", "url": "https://glygen.org/publication/PubMed/19240061" } ] }, { "title": "Trafficking of platelet-activating factor acetylhydrolase type II in response to oxidative stress.", "journal": "Biochemistry", "date": "2011", "authors": "Thevenin AF, Monillas ES, Winget JM, Czymmek K, Bahnson BJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-418346", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418346" } ], "reference": [ { "type": "PubMed", "id": "21882811", "url": "https://glygen.org/publication/PubMed/21882811" } ] }, { "title": "ATP binding site mutagenesis reveals different subunit stoichiometry of functional P2X2/3 and P2X2/6 receptors.", "journal": "The Journal of biological chemistry", "date": "2012", "authors": "Hausmann R, Bodnar M, Woltersdorf R, Wang H, Fuchs M, Messemer N, Qin Y, Gunther J, Riedel T, Grohmann M, Nieber K, Schmalzing G, Rubini P, Illes P", "evidence": [ { "database": "RefSeq", "id": "NP_001153026", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001153026" } ], "reference": [ { "type": "PubMed", "id": "22378790", "url": "https://glygen.org/publication/PubMed/22378790" } ] }, { "title": "Calcium channels in thrombin-activated human platelet membrane.", "journal": "Nature", "date": "1988", "authors": "Zschauer A, van Breemen C, Buhler FR, Nelson MT", "evidence": [ { "database": "Reactome", "id": "R-HSA-139853", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-139853" } ], "reference": [ { "type": "PubMed", "id": "2457808", "url": "https://glygen.org/publication/PubMed/2457808" } ] }, { "title": "Oligomeric state regulated trafficking of human platelet-activating factor acetylhydrolase type-II.", "journal": "Biochimica et biophysica acta", "date": "2015", "authors": "Monillas ES, Caplan JL, Thevenin AF, Bahnson BJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-418346", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418346" } ], "reference": [ { "type": "PubMed", "id": "25707358", "url": "https://glygen.org/publication/PubMed/25707358" } ] }, { "title": "A novel strategy for global mapping of O-GlcNAc proteins and peptides using selective enzymatic deglycosylation, HILIC enrichment and mass spectrometry identification.", "journal": "Talanta", "date": "2017", "authors": "Shen B, Zhang W, Shi Z, Tian F, Deng Y, Sun C, Wang G, Qin W, Qian X", "evidence": [ { "database": "O-GlcNAc Database", "id": "O15547", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O15547" } ], "reference": [ { "type": "PubMed", "id": "28411811", "url": "https://glygen.org/publication/PubMed/28411811" } ] }, { "title": "trp, a novel mammalian gene family essential for agonist-activated capacitative Ca2+ entry.", "journal": "Cell", "date": "1996", "authors": "Zhu X, Jiang M, Peyton M, Boulay G, Hurst R, Stefani E, Birnbaumer L", "evidence": [ { "database": "Reactome", "id": "R-HSA-139853", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-139853" } ], "reference": [ { "type": "PubMed", "id": "8646775", "url": "https://glygen.org/publication/PubMed/8646775" } ] }, { "title": "Cloning of P2XM, a novel human P2X receptor gene regulated by p53.", "journal": "Cancer Res.", "date": "1997", "authors": "Urano T, Nishimori H, Han H, Furuhata T, Kimura Y, Nakamura Y, Tokino T", "evidence": [ { "database": "UniProtKB", "id": "O15547", "url": "https://www.uniprot.org/uniprot/O15547" } ], "reference": [ { "type": "PubMed", "id": "9242461", "url": "https://glygen.org/publication/PubMed/9242461" } ] }, { "title": "Expression, purification and characterization of a human serine-dependent phospholipase A2 with high specificity for oxidized phospholipids and platelet activating factor.", "journal": "The Biochemical journal", "date": "1998", "authors": "Rice SQ, Southan C, Boyd HF, Terrett JA, MacPhee CH, Moores K, Gloger IS, Tew DG", "evidence": [ { "database": "Reactome", "id": "R-HSA-418346", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418346" } ], "reference": [ { "type": "PubMed", "id": "9494101", "url": "https://glygen.org/publication/PubMed/9494101" } ] }, { "title": "P2X1 purinoceptor in human platelets. Molecular cloning and functional characterization after heterologous expression.", "journal": "The Journal of biological chemistry", "date": "1998", "authors": "Sun B, Li J, Okahara K, Kambayashi J", "evidence": [ { "database": "Reactome", "id": "R-HSA-139853", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-139853" } ], "reference": [ { "type": "PubMed", "id": "9565569", "url": "https://glygen.org/publication/PubMed/9565569" } ] }, { "title": "Direct activation of human TRPC6 and TRPC3 channels by diacylglycerol.", "journal": "Nature", "date": "1999", "authors": "Hofmann T, Obukhov AG, Schaefer M, Harteneck C, Gudermann T, Schultz G", "evidence": [ { "database": "Reactome", "id": "R-HSA-139853", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-139853" } ], "reference": [ { "type": "PubMed", "id": "9930701", "url": "https://glygen.org/publication/PubMed/9930701" } ] } ], "pathway": [ { "id": "hsa:9127", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:9127", "resource": "KEGG Pathway" }, { "id": "R-HSA-139853", "name": "Elevation of cytosolic Ca2+ levels", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-139853", "resource": "Reactome", "description": "Elevation of cytosolic Ca2+ levels" }, { "id": "R-HSA-418346", "name": "Platelet homeostasis", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418346", "resource": "Reactome", "description": "Platelet homeostasis" } ], "orthologs": [ { "uniprot_canonical_ac": "O54803-1", "protein_name": "P2X purinoceptor 6", "gene_name": "P2rx6", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MQLQPAGTGNMASAAAAALVSWGFLDYKTEKYVLTRNCRVGVSQRLLQLAVVVYVIGWALLAKKGYQERDLAPQTSVITKLKGVSVTQVKELENRLWDVADFVKPSQGENVFFLVTNFLVTPAQVQGRCPEHPSVPLANCWADEDCPEGETGTYSHGIKTGQCVVFNGTHRTCEIWSWCPVESGAVPRKPLLAQAKNFTLFIKNTVTFSKFNFSRSNALLTWDNTYFKHCLYDPLSSPYCPVFRIGDLVAMAGGDFEDLALLGGAVGISIHWDCNLDTKGSDCCPQYSFQLQQKGYNFRTANHWWAASGVETRSLLKLYGIRFDILVTGQAGKFALIPTAITVGTGAAWLGMVTFLCDLLLLYVDREAGFYWRTKYEEARAPKTTTNSS", "length": 389 }, "evidence": [ { "id": "45935662", "url": "http://www.informatics.jax.org/homology/45935662", "database": "MGI" }, { "id": "O15547", "url": "https://omabrowser.org/oma/group/O15547/", "database": "OMA" } ], "common_name": "Mouse" }, { "uniprot_canonical_ac": "P51579-1", "protein_name": "P2X purinoceptor 6", "gene_name": "P2rx6", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": 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