{ "uniprot_canonical_ac": "P00797-1", "uniprot_ac": "P00797", "uniprot_id": "RENI_HUMAN", "mass": { "chemical_mass": 45057.0, "monoisotopic_mass": 45057.0 }, "refseq": { "ac": "NP_000528", "name": "renin preproprotein", "summary": "This gene encodes renin, an aspartic protease that is secreted by the kidneys. Renin is a part of the renin-angiotensin-aldosterone system involved in regulation of blood pressure, and electrolyte balance. This enzyme catalyzes the first step in the activation pathway of angiotensinogen by cleaving angiotensinogen to form angiotensin I, which is then converted to angiotensin II by angiotensin I converting enzyme. This cascade can result in aldosterone release, narrowing of blood vessels, and increase in blood pressure as angiotension II is a vasoconstrictive peptide. Transcript variants that encode different protein isoforms and that arise from alternative splicing and the use of alternative promoters have been described, but their full-length nature has not been determined. Mutations in this gene have been shown to cause hyperuricemic nephropathy familial juvenile 2, familial hyperproreninemia, and renal tubular dysgenesis. [provided by RefSeq, May 2020].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000528" }, "gene_names": [ { "name": "REN", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P00797", "id": "P00797" }, { "name": "ADTKD4; HNFJ2; RTD", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000528", "id": "NP_000528" }, { "name": "REN", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000528", "id": "NP_000528" } ], "protein_names": [ { "name": "Renin", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P00797" }, { "name": "3.4.23.15", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P00797" }, { "name": "Angiotensinogenase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P00797" }, { "name": "renin precursor, renal; angiotensin-forming enzyme; angiotensinogenase", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000528", "id": "NP_000528" }, { "name": "renin preproprotein", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000528", "id": "NP_000528" } ], "function": [ { "annotation": "Counter-regulatory renin-angiotensin system in hypertension: Review and update in the era of COVID-19 pandemic. Review article", "evidence": [ { "database": "RefSeq", "id": "NP_000528", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000528" }, { "database": "PubMed", "id": "36481346", "url": "https://glygen.org/publication/PubMed/36481346" } ] }, { "annotation": "Intermittent Hypoxia Upregulates the Renin and Cd38 mRNAs in Renin-Producing Cells via the Downregulation of miR-203. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_000528", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000528" }, { "database": "PubMed", "id": "34576290", "url": "https://glygen.org/publication/PubMed/34576290" } ] }, { "annotation": "Renin is a highly specific endopeptidase, whose only known function is to generate angiotensin I from angiotensinogen in the plasma, initiating a cascade of reactions that produce an elevation of blood pressure and increased sodium retention by the kidney.", "evidence": [ { "database": "UniProtKB", "id": "P00797", "url": "https://www.uniprot.org/uniprot/P00797#function" }, { "database": "PubMed", "id": "20927107", "url": "https://glygen.org/publication/PubMed/20927107" }, { "database": "PubMed", "id": "12045255", "url": "https://glygen.org/publication/PubMed/12045255" }, { "database": "UniProtKB", "id": "A0A1B0GUZ2", "url": "https://www.uniprot.org/uniprot/A0A1B0GUZ2#function" }, { "database": "UniProtKB", "id": "ARBA00003849", "url": "https://www.uniprot.org/uniprot/ARBA00003849#function" } ] }, { "annotation": "The Relationship between Renin-Angiotensin-Aldosterone System (RAAS) Activity, Osteoporosis and Estrogen Deficiency in Type 2 Diabetes. Review article Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_000528", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000528" }, { "database": "PubMed", "id": "37569338", "url": "https://glygen.org/publication/PubMed/37569338" } ] }, { "annotation": "The alternative renin-angiotensin-system (RAS) signalling pathway in prostate cancer and its link to the current COVID-19 pandemic. Review article", "evidence": [ { "database": "RefSeq", "id": "NP_000528", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000528" }, { "database": "PubMed", "id": "36478297", "url": "https://glygen.org/publication/PubMed/36478297" } ] }, { "annotation": "This gene encodes renin, an aspartic protease that is secreted by the kidneys. Renin is a part of the renin-angiotensin-aldosterone system involved in regulation of blood pressure, and electrolyte balance. This enzyme catalyzes the first step in the activation pathway of angiotensinogen by cleaving angiotensinogen to form angiotensin I, which is then converted to angiotensin II by angiotensin I converting enzyme. This cascade can result in aldosterone release, narrowing of blood vessels, and increase in blood pressure as angiotension II is a vasoconstrictive peptide. Transcript variants that encode different protein isoforms and that arise from alternative splicing and the use of alternative promoters have been described, but their full-length nature has not been determined. Mutations in this gene have been shown to cause hyperuricemic nephropathy familial juvenile 2, familial hyperproreninemia, and renal tubular dysgenesis. [provided by RefSeq, May 2020].", "evidence": [ { "database": "RefSeq", "id": "NP_000528", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000528" } ] }, { "annotation": "Urinary soluble (pro)renin receptor excretion is associated with urine pH in humans. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_000528", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000528" }, { "database": "PubMed", "id": "34310595", "url": "https://glygen.org/publication/PubMed/34310595" } ] } ], "disease": [ { "disease_id": "DOID:0060062", "recommended_name": { "id": "DOID:0060062", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060062", "name": "familial juvenile hyperuricemic nephropathy", "description": "A kidney disease that is characterized by hyperuricemia with renal uric acid under-excretion, gout and chronic kidney disease." }, "synonyms": [ { "id": "MONDO:0008073", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008073", "name": "familial juvenile hyperuricemic nephropathy type 1", "description": "A rare kidney disorder characterized by hyperuricemia, progressive nephropathy, and gout occurring at an early age." }, { "id": "MONDO:0008073", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008073", "name": "familial juvenile gouty nephropathy", "description": "" }, { "id": "MONDO:0008073", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008073", "name": "familial nephropathy with gout", "description": "" }, { "id": "MONDO:0008073", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008073", "name": "gouty nephropathy, familial juvenile", "description": "" }, { "id": "MONDO:0008073", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008073", "name": "hyperuricemic nephropathy, familial juvenile", "description": "" }, { "id": "MONDO:0008073", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008073", "name": "nephropathy, familial, with gout", "description": "" }, { "id": "MONDO:0008073", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008073", "name": "ADTKD-UMOD", "description": "" }, { "id": "MONDO:0008073", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008073", "name": "FJHN type 1", "description": "" }, { "id": "MONDO:0008073", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008073", "name": "HNFJ1", "description": "" }, { "id": "MONDO:0008073", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008073", "name": "UMOD familial juvenile hyperuricemic nephropathy", "description": "" }, { "id": "MONDO:0008073", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008073", "name": "UMOD-associated FJHN", "description": "" }, { "id": "MONDO:0008073", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008073", "name": "UMOD-associated familial juvenile hyperuricemic nephropathy", "description": "" }, { "id": "MONDO:0008073", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008073", "name": "UMOD-related ADTKD", "description": "" }, { "id": "MONDO:0008073", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008073", "name": "UMOD-related kidney disease", "description": "" }, { "id": "MONDO:0008073", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008073", "name": "autosomal dominant medullary cystic kidney disease type 2", "description": "" }, { "id": "MONDO:0008073", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008073", "name": "autosomal dominant medullary cystic kidney disease with hyperuricemia", "description": "" }, { "id": "MONDO:0008073", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008073", "name": "autosomal dominant tubulointerstitial kidney disease due to mutations in UMOD", "description": "" }, { "id": "MONDO:0008073", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008073", "name": "familial juvenile hyperuricemic nephropathy caused by mutation in UMOD", "description": "" }, { "id": "MONDO:0008073", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008073", "name": "glomerulocystic kidney disease with hyperuricemia and isosthenuria", "description": "" }, { "id": "MONDO:0008073", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008073", "name": "hyperuricemic nephropathy, familial juvenile, 1", "description": "" }, { "id": "MONDO:0008073", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008073", "name": "hyperuricemic nephropathy, familial juvenile, type 1", "description": "" }, { "id": "MONDO:0008073", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008073", "name": "medullary cystic kidney disease 2", "description": "" }, { "id": "MONDO:0008073", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008073", "name": "medullary cystic kidney disease type 2", "description": "" }, { "id": "MONDO:0008073", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008073", "name": "medullary cystic kidney disease type II", "description": "" }, { "id": "MONDO:0008073", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008073", "name": "tubulointerstitial kidney disease, autosomal dominant, 1", "description": "" }, { "id": "MONDO:0008073", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008073", "name": "uromodulin storage disease", "description": "" }, { "id": "MONDO:0008073", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008073", "name": "uromodulin-associated kidney disease", "description": "" }, { "id": "MONDO:0008073", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008073", "name": "ADMCKD2", "description": "" }, { "id": "MONDO:0008073", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008073", "name": "MCKD2", "description": "" }, { "id": "MONDO:0008073", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008073", "name": "UMOD-related autosomal dominant tubulointerstitial kidney disease", "description": "" }, { "id": "MONDO:0008073", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008073", "name": "familial juvenile hyperuricaemic nephropathy", "description": "" }, { "id": "MONDO:0008073", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008073", "name": "medullary cystic kidney disease 2, autosomal dominant", "description": "" }, { "id": "MONDO:0013128", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013128", "name": "familial juvenile hyperuricemic nephropathy type 2", "description": "Familial juvenile hyperuricemic nephropathy type 2 is a rare autosomal dominantly inherited disease of childhood characterized by hypoproliferative anemia, hyperuricemia and slowly progressing kidney failure due to dysregulation of the renin-angiotensin system (RAS)." }, { "id": "MONDO:0013128", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013128", "name": "ADTKD-REN", "description": "" }, { "id": "MONDO:0013128", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013128", "name": "FJHN type 2", "description": "" }, { "id": "MONDO:0013128", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013128", "name": "REN familial juvenile hyperuricemic nephropathy", "description": "" }, { "id": "MONDO:0013128", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013128", "name": "REN-associated FJHN", "description": "" }, { "id": "MONDO:0013128", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013128", "name": "REN-associated familial juvenile hyperuricemic nephropathy", "description": "" }, { "id": "MONDO:0013128", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013128", "name": "REN-associated kidney disease", "description": "" }, { "id": "MONDO:0013128", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013128", "name": "autosomal dominant tubulointerstitial kidney disease due to mutations in REN", "description": "" }, { "id": "MONDO:0013128", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013128", "name": "familial juvenile hyperuricemic nephropathy caused by mutation in REN", "description": "" }, { "id": "MONDO:0013128", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013128", "name": "familial juvenile hyperuricemic nephropathy type 2", "description": "" }, { "id": "MONDO:0013128", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013128", "name": "hyperuricemic nephropathy, familial juvenile, type 2", "description": "" }, { "id": "MONDO:0013128", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013128", "name": "tubulointerstitial kidney disease, autosomal dominant, 4", "description": "" }, { "id": "MONDO:0013128", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013128", "name": "HNFJ2", "description": "" }, { "id": "MONDO:0013128", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013128", "name": "REN-related autosomal dominant tubulointerstitial kidney disease", "description": "" }, { "id": "MONDO:0013128", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013128", "name": "early-onset hyperuricemia, Anemia, and progressive kidney failure", "description": "" }, { "id": "MONDO:0013128", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013128", "name": "hyperuricemic nephropathy, familial juvenile, 2", "description": "" }, { "id": "MONDO:0013643", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013643", "name": "hyperuricemic nephropathy, familial juvenile type 3", "description": "" }, { "id": "MONDO:0013643", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013643", "name": "HNFJ3", "description": "" }, { "id": "MONDO:0013643", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013643", "name": "hyperuricemic nephropathy, familial juvenile, 3", "description": "" }, { "id": "MIM:162000", "resource": "MIM", "url": "https://www.omim.org/entry/162000", "name": "Tubulointerstitial kidney disease, autosomal dominant, 1", "description": "Tubulointerstitial kidney disease, autosomal dominant, 1" }, { "id": "MIM:613092", "resource": "MIM", "url": "https://www.omim.org/entry/613092", "name": "Tubulointerstitial kidney disease, autosomal dominant, 4", "description": "Tubulointerstitial kidney disease, autosomal dominant, 4" } ], "evidence": [ { "id": "613092", "database": "MIM", "url": "https://www.omim.org/entry/613092" } ] }, { "disease_id": "MONDO:0009970", "recommended_name": { "id": "MONDO:0009970", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009970", "name": "renal tubular dysgenesis of genetic origin", "description": "An instance of renal tubular dysgenesis that is caused by a modification of the individual's genome." }, "synonyms": [ { "id": "MONDO:0009970", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009970", "name": "genetic renal tubular dysgenesis", "description": "" }, { "id": "MONDO:0009970", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009970", "name": "renal tubular dysgenesis of genetic origin", "description": "" }, { "id": "MONDO:0009970", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009970", "name": "RTD", "description": "" }, { "id": "MONDO:0009970", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009970", "name": "primitive renal tubule syndrome", "description": "" }, { "id": "MONDO:0009970", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009970", "name": "renal tubular dysgenesis", "description": "" }, { "id": "MONDO:0009970", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009970", "name": "renal tubular dysgenesis with choanal atresia and athelia", "description": "" }, { "id": "MIM:267430", "resource": "MIM", "url": "https://www.omim.org/entry/267430", "name": "Renal tubular dysgenesis", "description": "Renal tubular dysgenesis" } ], "evidence": [ { "id": "267430", "database": "MIM", "url": "https://www.omim.org/entry/267430" } ] } ], "snv": [ { "evidence": [ { "id": "rs768667467", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768667467" }, { "id": "rs768667467", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768667467" }, { "id": "rs768667467", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs768667467" } ], "glycoeffect": [ "n-glyco-sequon-gain", "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 73, "end_pos": 73, "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (TSS->NSS); n-glyco-sequon-loss (NTT->NTN).", "chr_id": "1", "chr_pos": "204162044", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T73", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P00797", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P00797" }, { "id": "rs1422936644", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1422936644" }, { "id": "rs1422936644", "database": "NCI-TCGA", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1422936644" }, { "id": "rs1422936644", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1422936644#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 131, "end_pos": 131, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (DAS->NAS).", "chr_id": "1", "chr_pos": "204160661", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "D131", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, 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"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 familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "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": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "P00797", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P00797" } ], "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": "P00797", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P00797" } ], "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": 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OS=Homo sapiens OX=9606 GN=REN PE=1 SV=1 CANONICAL=P00797-1" }, "isoforms": [ { "isoform_ac": "A0A1B0GUZ2-1", "url": "", "sequence": { "sequence": "MPSIRESLKERGVDMARLGPEWSQPMKRLTLGNTTSSVILTNYMDTQYYGEIGIGTPPQTFKVVFDTGSSNVWVPSSKCSRLYTACVYHKLFDASDSSSYKHNGTELTLRYSTGTVSGFLSQDIITVGGITVTQMFGEVTEMPALPFMLAEFDGVVGMGFIEQAIGRVTPIFDNIISQGVLKEDVFSFYYNRDSENSQSLGGQIVLGGSDPQHYEGNFHYINLIKTGVWQIQMKGVSVGSSTLLCEDGCLALVDTGASYISGSTSSIEKLMEALGAKKRLFDYVVKCNEGPTLPDISFHLGGKEYTLTSADYVFQESYSSKKLCTLAIHAMDIPPPTGPTWALGATFIRKFYTEFDRRNNRIGFALAR", "length": 368, "header": "tr|A0A1B0GUZ2-1|A0A1B0GUZ2_HUMAN Computationally mapped isoform of Renin OS=Homo sapiens OX=9606 GN=REN PE=1 SV=1 CANONICAL=P00797-1" }, "locus": { "chromosome": "1", "start_pos": 204162147, "end_pos": 204155019, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000638118.1", "url": "https://www.ensembl.org/id/ENST00000638118.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000490307.1", "url": "https://www.ensembl.org/id/ENSP00000490307.1" } ] } }, { "isoform_ac": "P00797-1", "url": "", "sequence": { "sequence": "MDGWRRMPRWGLLLLLWGSCTFGLPTDTTTFKRIFLKRMPSIRESLKERGVDMARLGPEWSQPMKRLTLGNTTSSVILTNYMDTQYYGEIGIGTPPQTFKVVFDTGSSNVWVPSSKCSRLYTACVYHKLFDASDSSSYKHNGTELTLRYSTGTVSGFLSQDIITVGGITVTQMFGEVTEMPALPFMLAEFDGVVGMGFIEQAIGRVTPIFDNIISQGVLKEDVFSFYYNRDSENSQSLGGQIVLGGSDPQHYEGNFHYINLIKTGVWQIQMKGVSVGSSTLLCEDGCLALVDTGASYISGSTSSIEKLMEALGAKKRLFDYVVKCNEGPTLPDISFHLGGKEYTLTSADYVFQESYSSKKLCTLAIHAMDIPPPTGPTWALGATFIRKFYTEFDRRNNRIGFALAR", "length": 406, "header": "sp|P00797-1|RENI_HUMAN Isoform 1 of Renin OS=Homo sapiens OX=9606 GN=REN PE=1 SV=1 CANONICAL=P00797-1" }, "locus": { "chromosome": "1", "start_pos": 204166293, "end_pos": 204155019, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000272190.9", "url": "https://www.ensembl.org/id/ENST00000272190.9" }, { "database": "Ensembl Peptide", "id": "ENSP00000272190.8", "url": "https://www.ensembl.org/id/ENSP00000272190.8" } ] } }, { "isoform_ac": "P00797-2", "url": "", "sequence": { "sequence": "MDGWRRMPRWGLLLLLWGSCTFGLPTDTTTFKRIFLKRMPSIRESLKERGVDMARLGPEWSQPMKRLTLGNTTSSVILTNYMDTQYYGEIGIGTPPQTFKVVFDTGSSNVWVPSSKCSRLYTACVYHKLFDASDSSSYKHNGTELTLRYSTGTVSGFLSQDIITVGGITVTQMFGEVTEMPALPFMLAEFDGVVGMGFIEQAIGRVTPIFDNIISQGVLKEDVFSFYYNRNSQSLGGQIVLGGSDPQHYEGNFHYINLIKTGVWQIQMKGVSVGSSTLLCEDGCLALVDTGASYISGSTSSIEKLMEALGAKKRLFDYVVKCNEGPTLPDISFHLGGKEYTLTSADYVFQESYSSKKLCTLAIHAMDIPPPTGPTWALGATFIRKFYTEFDRRNNRIGFALAR", "length": 403, "header": "sp|P00797-2|RENI_HUMAN Isoform 2 of Renin OS=Homo sapiens OX=9606 GN=REN PE=1 SV=1 CANONICAL=P00797-1" }, "locus": {} } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 141, "start_aa": "Asn", "end_pos": 141, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn141", "evidence": [ { "id": "P00797", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P00797#ptm_processing" }, { "id": "2493678", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/2493678" }, { "id": "2REN", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/2REN" }, { "id": "3G6Z", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/3G6Z" }, { "id": "3G70", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/3G70" }, { "id": "3G72", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/3G72" }, { "id": "3K1W", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/3K1W" }, { "id": "3O9L", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/3O9L" }, { "id": "3OAD", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/3OAD" }, { "id": "3OAG", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/3OAG" }, { "id": "3VSW", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/3VSW" }, { "id": "3VSX", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/3VSX" }, { "id": "3VUC", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/3VUC" }, { "id": "3VYD", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/3VYD" }, { "id": "3VYE", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/3VYE" }, { "id": "3VYF", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/3VYF" }, { "id": "4AMT", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/4AMT" }, { "id": "5SY2", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/5SY2" }, { "id": "5VPM", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/5VPM" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 71, "start_aa": "Asn", "end_pos": 71, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn71", "evidence": [ { "id": "P00797", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P00797#ptm_processing" }, { "id": "2493678", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/2493678" }, { "id": "3G6Z", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/3G6Z" }, { "id": "3OAD", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/3OAD" }, { "id": "3OAG", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/3OAG" } ] }, { "glytoucan_ac": "G04689DA", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "", "evidence": [ { "id": "513", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/513" }, { "id": "1637829", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/1637829" }, { "id": "8038170", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/8038170" } ] }, { "glytoucan_ac": "G05724UK", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "", "evidence": [ { "id": "513", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/513" }, { "id": "1637829", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/1637829" }, { "id": "8038170", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/8038170" } ] }, { "glytoucan_ac": "G06110VR", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "", "evidence": [ { "id": "513", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/513" }, { "id": "1637829", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/1637829" } ] }, { "glytoucan_ac": "G12932QT", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "", "evidence": [ { "id": "513", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/513" }, { "id": "1637829", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/1637829" } ] }, { "glytoucan_ac": "G14669DU", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "", "evidence": [ { "id": "513", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/513" }, { "id": "8038170", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/8038170" } ] }, { "glytoucan_ac": "G14889BN", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "", "evidence": [ { "id": "513", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/513" }, { "id": "1637829", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/1637829" } ] }, { "glytoucan_ac": "G15956KF", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "", "evidence": [ { "id": "513", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/513" }, { "id": "1637829", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/1637829" }, { "id": "8038170", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/8038170" } ] }, { "glytoucan_ac": "G16828VN", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "", "evidence": [ { "id": "513", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/513" }, { "id": "1637829", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/1637829" } ] }, { "glytoucan_ac": "G18938DW", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "", "evidence": [ { "id": "513", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/513" }, { "id": "1637829", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/1637829" } ] }, { "glytoucan_ac": "G20425TQ", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "", "evidence": [ { "id": "513", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/513" }, { "id": "1637829", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/1637829" } ] }, { "glytoucan_ac": "G22768VO", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "", "evidence": [ { "id": "513", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/513" }, { "id": "8038170", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/8038170" } ] }, { "glytoucan_ac": "G23863VK", "type": 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Sci.", "date": "1986", "authors": "Morris B J", "evidence": [ { "database": "UniProtKB", "id": "P00797", "url": "https://www.uniprot.org/uniprot/P00797" } ], "reference": [ { "type": "PubMed", "id": "3530608", "url": "https://glygen.org/publication/PubMed/3530608" } ] }, { "title": "The alternative renin-angiotensin-system (RAS) signalling pathway in prostate cancer and its link to the current COVID-19 pandemic.", "journal": "Molecular biology reports", "date": "2022-12-07", "authors": "Sehn Fabian, B\u00fcttner Hartwig, Godau Beate, M\u00fcller Marten, Sarcan Semih, Offermann Anne, Perner Sven, Kramer Mario W, Merseburger Axel S, Roesch Marie C", "evidence": [ { "database": "RefSeq", "id": "NP_000528", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000528" } ], "reference": [ { "type": "PubMed", "id": "36478297", "url": "https://glygen.org/publication/PubMed/36478297" } ] }, { "title": "Counter-regulatory renin-angiotensin system in hypertension: Review and update in the era of COVID-19 pandemic.", "journal": "Biochemical pharmacology", "date": "2022-12-05", "authors": "Chen Hongyin, Peng Jiangyun, Wang Tengyao, Wen Jielu, Chen Sifan, Huang Yu, Zhang Yang", "evidence": [ { "database": "RefSeq", "id": "NP_000528", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000528" } ], "reference": [ { "type": "PubMed", "id": "36481346", "url": "https://glygen.org/publication/PubMed/36481346" } ] }, { "title": "The Relationship between Renin-Angiotensin-Aldosterone System (RAAS) Activity, Osteoporosis and Estrogen Deficiency in Type 2 Diabetes.", "journal": "International journal of molecular sciences", "date": "2023-07-26", "authors": "Mkhize Bongeka Cassandra, Mosili Palesa, Ngubane Phikelelani Sethu, Sibiya Ntethelelo Hopewell, Khathi Andile", "evidence": [ { "database": "RefSeq", "id": "NP_000528", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000528" } ], "reference": [ { "type": "PubMed", "id": "37569338", "url": "https://glygen.org/publication/PubMed/37569338" } ] }, { "title": "Effects of angiotensin I-converting enzyme inhibitor, SQ 14225, in nomal men.", "journal": "Endocrinologia japonica", "date": "1979", "authors": "Kono T, Ikeda F, Oseko F, Imura H, Endo J", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022377", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022377" } ], "reference": [ { "type": "PubMed", "id": "383475", "url": "https://glygen.org/publication/PubMed/383475" } ] }, { "title": "Kinetic constants of the human renin and human angiotensinogen reaction.", "journal": "Circulation research", "date": "1967", "authors": "Haas E, Goldblatt H", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022377", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022377" } ], "reference": [ { "type": "PubMed", "id": "4289389", "url": "https://glygen.org/publication/PubMed/4289389" } ] }, { "title": "Kinetics of the human renin and human substrate reaction.", "journal": "Cardiovascular research", "date": "1971", "authors": "Gould AB, Green D", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022377", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022377" } ], "reference": [ { "type": "PubMed", "id": "4322712", "url": "https://glygen.org/publication/PubMed/4322712" } ] }, { "title": "Enzyme kinetic studies on human renin and its purified homologous substrate.", "journal": "The American journal of physiology", "date": "1971", "authors": "Rosenthal J, Wolff HP, Weber P, Dahlheim H", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022377", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022377" } ], "reference": [ { "type": "PubMed", "id": "4330891", "url": "https://glygen.org/publication/PubMed/4330891" } ] }, { "title": "Kinetics of the reaction of human renin with natural substrates and tetradecapeptide substrate.", "journal": "Biochimica et biophysica acta", "date": "1973", "authors": "Favre L, Vallotton MB", "evidence": [ { "database": "Reactome", "id": 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Natl. Acad. Sci. U.S.A.", "date": "1983", "authors": "Imai T, Miyazaki H, Hirose S, Hori H, Hayashi T, Kageyama R, Ohkubo H, Nakanishi S, Murakami K", "evidence": [ { "database": "UniProtKB", "id": "P00797", "url": "https://www.uniprot.org/uniprot/P00797" } ], "reference": [ { "type": "PubMed", "id": "6324167", "url": "https://glygen.org/publication/PubMed/6324167" } ] }, { "title": "Primary structure of the human renin gene.", "journal": "DNA", "date": "1984", "authors": "Hardman J A, Hort Y J, Catanzaro D F, Tellam J T, Baxter J D, Morris B J, Shine J", "evidence": [ { "database": "UniProtKB", "id": "P00797", "url": "https://www.uniprot.org/uniprot/P00797" } ], "reference": [ { "type": "PubMed", "id": "6391881", "url": "https://glygen.org/publication/PubMed/6391881" } ] }, { "title": "Rapid conversion of angiotensin I to angiotensin II by neutrophil and mast cell proteinases.", "journal": "The Journal of biological chemistry", "date": "1982", "authors": "Reilly CF, Tewksbury DA, Schechter NM, Travis J", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022377", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022377" } ], "reference": [ { "type": "PubMed", "id": "6807977", "url": "https://glygen.org/publication/PubMed/6807977" } ] }, { "title": "Purification and characterization of a human liver cocaine carboxylesterase that catalyzes the production of benzoylecgonine and the formation of cocaethylene from alcohol and cocaine.", "journal": "Biochemical pharmacology", "date": "1994", "authors": "Brzezinski MR, Abraham TL, Stone CL, Dean RA, Bosron WF", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022377", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022377" } ], "reference": [ { "type": "PubMed", "id": "7980644", "url": "https://glygen.org/publication/PubMed/7980644" } ] }, { "title": "Glycosylation of recombinant prorenin in insect cells: the insect cell line Sf9 does not express the mannose 6-phosphate recognition signal.", "journal": 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resistant to inhibition.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "1998", "authors": "Owen CA, Campbell EJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022377", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022377" } ], "reference": [ { "type": "PubMed", "id": "9570564", "url": "https://glygen.org/publication/PubMed/9570564" } ] } ], "pathway": [ { "id": "hsa:5972", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:5972", "resource": "KEGG Pathway" }, { "id": "R-HSA-2022377", "name": "Metabolism of Angiotensinogen to Angiotensins", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022377", "resource": "Reactome", "description": "Metabolism of Angiotensinogen to Angiotensins" } ], "orthologs": [ { "uniprot_canonical_ac": "P00796-1", "protein_name": "Renin-2", "gene_name": "Ren2", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0043408", "evidence": [ { "database": "UniProtKB", "id": "P00797", "url": "https://www.uniprot.org/uniprot/P00797" } ], "pmid": "" }, { "name": "juxtaglomerular apparatus development", "id": "GO:0072051", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072051", "evidence": [ { "database": "UniProtKB", "id": "P00797", "url": "https://www.uniprot.org/uniprot/P00797" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 4, "go_terms": [ { "name": "aspartic-type endopeptidase activity", "id": "GO:0004190", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004190", "evidence": [ { "database": "UniProtKB", "id": "P00797", "url": "https://www.uniprot.org/uniprot/P00797" } ], "pmid": "" }, { "name": "signaling receptor binding", "id": "GO:0005102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005102", "evidence": [ { "database": "UniProtKB", "id": "P00797", "url": "https://www.uniprot.org/uniprot/P00797" } ], "pmid": "" }, { "name": "insulin-like 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2002). Binding to the (pro)renin receptor increases the catalytic efficiency of renin 4-fold (Nguyen et al. 2002). Aliskiren, a drug used clinically to treat hypertension, inhibits cleavage of angiotensinogen by renin (Gossas et al. 2011, Wood et al. 2003, reviewed in Gerc et al. 2009).", "cellular_location": "extracellular region, plasma membrane", "input_participant_list": [], "output_participant_list": [ "R-HSA-2022346" ], "enzyme_list": [ "P07339-1", "P00797-1" ], "evidence": [ { "id": "R-HSA-2022403", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022403" } ] }, { "id": "R-HSA-2022412", "name": "Renin hydrolyzes Angiotensinogen to Angiotensin-(1-10)", "equation": "", "summary": "Renin in the bloodstream hydrolyzes angiotensinogen to yield angiotensin-(1-10) (angiotensin I). Renin is produced in the juxtaglomerular cells of the kidney in response to reduced blood pressure. Aliskiren, a drug used clinically to treat hypertension, inhibits this reaction (Gossas et al. 2011, Wood et al. 2003, reviewed in Gerc et al. 2009).", "cellular_location": "extracellular region", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P07339-1", "P00797-1" ], "evidence": [ { "id": "R-HSA-2022412", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022412" } ] }, { "id": "R-HSA-2065357", "name": "Prorenin:Prorenin Receptor hydrolyzes Angiotensinogen to Angiotensin-(1-10)", "equation": "", "summary": "The binding of prorenin to the (pro)renin receptor activates the protease activity of prorenin, which can then hydrolyze angiotensinogen to yield angiotensin-(1-10) (angiotensin I) (Nguyen et al. 2002). Prorenin is inactive when not bound to the (pro)renin receptor. Aliskiren, a drug used clinically to treat hypertension, inhibits the cleavage of angiotensinogen by renin (Gossas et al. 2011, Wood et al. 2003, reviewed in Gerc et al. 2009).", "cellular_location": "extracellular region, plasma membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P00797-1" ], "evidence": [ { "id": "R-HSA-2065357", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2065357" } ] } ], "reaction_participants": [ { "participant_id": "R-HSA-2022346", "participant_name": "AGT(34-43) [extracellular region]", "crossref": [ { "id": "ENST00000679738", "database": "Ensembl", "url": "" }, { "id": "NP_000020.1", "database": "RefSeq", "url": "" }, { "id": "P01019", "database": "PRO", "url": "" }, { "id": "ENST00000681514", "database": "Ensembl", "url": "" }, { "id": "2X0B", "database": "PDB", "url": "" }, { "id": "4APH", "database": "PDB", "url": "" }, { "id": "ENSP00000505963", "database": "Ensembl", "url": "" }, { "id": "ENSP00000355627", "database": "Ensembl", "url": "" }, { "id": "1N9V", "database": "PDB", "url": "" }, { "id": "ENSG00000135744", "database": "Ensembl", "url": "" }, { "id": "ENST00000681269", "database": "Ensembl", "url": "" }, { "id": "1N9U", "database": "PDB", "url": "" }, { "id": "6I3I", "database": "PDB", "url": "" }, { "id": "ENST00000366667", "database": "Ensembl", "url": "" }, { "id": "5XJM", "database": "PDB", "url": "" }, { "id": "7C6A", "database": "PDB", "url": "" }, { "id": "4FYS", "database": "PDB", "url": "" }, { "id": "P01019", "database": "GeneCards", "url": "" }, { "id": "6OS0", "database": "PDB", "url": "" }, { "id": "5M3X", "database": "PDB", "url": "" }, { "id": "P01019", "database": "UniProt", "url": "" }, { "id": "P01019", "database": "Pharos - Targets", "url": "" }, { "id": "3CK0", "database": "PDB", "url": "" }, { "id": "5E2Q", "database": "PDB", "url": "" }, { "id": "3WOO", "database": "PDB", "url": "" }, { "id": "3WOR", "database": "PDB", "url": "" }, { "id": "ENSP00000505985", "database": "Ensembl", "url": "" }, { "id": "ENSG00000135744-AGT", "database": "HPA", "url": "" }, { "id": "15475", "database": "Orphanet", "url": "" }, { "id": "2JP8", "database": "PDB", "url": "" }, { "id": "ENSP00000504866", "database": "Ensembl", "url": "" }, { "id": "6JOD", "database": "PDB", "url": "" }, { "id": "HMDBP02609", "database": "HMDB Protein", "url": "" }, { "id": "6I3F", "database": "PDB", "url": "" }, { "id": "5M3Y", "database": "PDB", "url": "" }, { "id": "2WXW", "database": "PDB", "url": "" }, { "id": "4AA1", "database": "PDB", "url": "" }, { "id": "ENST00000680041", "database": "Ensembl", "url": "" }, { "id": "ENSP00000505063", "database": "Ensembl", "url": "" }, { "id": "ENSG00000135744", "database": "OpenTargets", "url": "" } ] } ], "reaction_enzymes": [ { "uniprot_ac": "P00797", "gene_name": "REN", "activity": [ { "ec_number": "3.4.23.15", "activity": "Cleavage of Leu-|-Xaa bond in angiotensinogen to generate angiotensin I.", "evidence": [ { "id": "P00797", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P00797" } ] }, { "ec_number": "3.4.23.15", "activity": "", "evidence": [ { "id": "P00797", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P00797" } ] } ] }, { "uniprot_ac": "P07339", "gene_name": "CTSD", "activity": [ { "ec_number": "3.4.23.5", "activity": "Specificity similar to, but narrower than, that of pepsin A. 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