{ "uniprot_canonical_ac": "A6NHC0-1", "uniprot_ac": "A6NHC0", "uniprot_id": "CAN8_HUMAN", "mass": { "chemical_mass": 79144.0, "monoisotopic_mass": 79144.0 }, "refseq": { "ac": "NP_001137434", "name": "calpain-8", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001137434" }, "gene_names": [ { "name": "CAPN8", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/A6NHC0", "id": "A6NHC0" }, { "name": "CAPN8", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001137434", "id": "NP_001137434" }, { "name": "NCL2", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/A6NHC0", "id": "A6NHC0" }, { "name": "hCG_2036808", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/A6NHC0", "id": "A6NHC0" }, { "name": "nCL-2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001137434", "id": "NP_001137434" } ], "protein_names": [ { "name": "Calpain-8", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "A6NHC0" }, { "name": "3.4.22.53", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "A6NHC0" }, { "name": "New calpain 2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "A6NHC0" }, { "name": "Stomach-specific M-type calpain", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "A6NHC0" }, { "name": "calpain-8", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001137434", "id": "NP_001137434" }, { "name": "nCL-2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "A6NHC0" }, { "name": "new calpain 2; stomach-specific M-type calpain", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001137434", "id": "NP_001137434" } ], "function": [ { "annotation": "3 novel loci associated with serum alpha-carotene concentrations among a population that consumed a controlled diet. While replication is necessary, the CAPN2/CAPN8 locus provides compelling evidence for an association with serum alpha-carotene concentrations and may suggest a relationship with the development and progression of cancers.", "evidence": [ { "database": "RefSeq", "id": "NP_001137434", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001137434" }, { "database": "PubMed", "id": "28002826", "url": "https://glygen.org/publication/PubMed/28002826" } ] }, { "annotation": "Calcium-regulated non-lysosomal thiol-protease. Involved in membrane trafficking in the gastric surface mucus cells (pit cells) and may involve the membrane trafficking of mucus cells via interactions with coat protein. Proteolytically cleaves the beta-subunit of coatomer complex (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "A6NHC0", "url": "https://www.uniprot.org/uniprot/A6NHC0#function" } ] }, { "annotation": "NCL-2/calpain 8 is active without calpain regulatory subunit and oligomerizes through C2-like domains", "evidence": [ { "database": "RefSeq", "id": "NP_001137434", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001137434" }, { "database": "PubMed", "id": "17646163", "url": "https://glygen.org/publication/PubMed/17646163" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "A6NHC0", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A6NHC0" } ], "glycoeffect": [], "start_pos": 249, "end_pos": 249, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "1", "chr_pos": "223625873", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E249", "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 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" } ] }, { "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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"https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" 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"malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ] }, { "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": 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"database": "Bgee", "id": "ENSG00000203697", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000203697" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "83.98", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000203697", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000203697" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "58.33", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000203697", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000203697" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "46.93", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000203697", "url": 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"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, 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"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": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "A6NHC0", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A6NHC0" } ], "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": "down", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "A6NHC0", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A6NHC0" } ], "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": 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A6NHC0" } ], "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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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A6NHC0" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { 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"https://www.ncbi.nlm.nih.gov/protein/NP_001137434", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "A3QK36", "url": "https://www.uniprot.org/uniprot/A3QK36", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A3QK36-1", "url": "https://www.uniprot.org/uniprot/A3QK36-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A6NHC0", "url": "https://www.uniprot.org/uniprot/A6NHC0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A6NHC0-1", "url": "https://www.uniprot.org/uniprot/A6NHC0-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "B1B154", "url": "https://www.uniprot.org/uniprot/B1B154", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "B1B154-1", "url": "https://www.uniprot.org/uniprot/B1B154-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YDN4", "url": "https://www.uniprot.org/uniprot/H0YDN4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YDN4-1", "url": "https://www.uniprot.org/uniprot/H0YDN4-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YEJ4", "url": "https://www.uniprot.org/uniprot/H0YEJ4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YEJ4-1", "url": "https://www.uniprot.org/uniprot/H0YEJ4-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YEQ4", "url": "https://www.uniprot.org/uniprot/H0YEQ4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YEQ4-1", "url": "https://www.uniprot.org/uniprot/H0YEQ4-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MAAQAAGVSRQRAATQGLGSNQNALKYLGQDFKTLRQQCLDSGVLFKDPEFPACPSALGYKDLGPGSPQTQGIIWKRPTELCPSPQFIVGGATRTDICQGGLGDCWLLAAIASLTLNEELLYRVVPRDQDFQENYAGIFHFQFWQYGEWVEVVIDDRLPTKNGQLLFLHSEQGNEFWSALLEKAYAKLNGCYEALAGGSTVEGFEDFTGGISEFYDLKKPPANLYQIIRKALCAGSLLGCSIDVSSAAEAEAITSQKLVKSHAYSVTGVEEVNFQGHPEKLIRLRNPWGEVEWSGAWSDDAPEWNHIDPRRKEELDKKVEDGEFWMSLSDFVRQFSRLEICNLSPDSLSSEEVHKWNLVLFNGHWTRGSTAGGCQNYPATYWTNPQFKIRLDEVDEDQEESIGEPCCTVLLGLMQKNRRWRKRIGQGMLSIGYAVYQVPKELESHTDAHLGRDFFLAYQPSARTSTYVNLREVSGRARLPPGEYLVVPSTFEPFKDGEFCLRVFSEKKAQALEIGDVVAGNPYEPHPSEVDQEDDQFRRLFEKLAGKDSEITANALKILLNEAFSKRTDIKFDGFNINTCREMISLLDSNGTGTLGAVEFKTLWLKIQKYLEIYWETDYNHSGTIDAHEMRTALRKAGFTLNSQVQQTIALRYACSKLGINFDSFVACMIRLETLFKLFSLLDEDKDGMVQLSLAEWLCCVLV", "length": 703, "header": "sp|A6NHC0-1|CAN8_HUMAN Isoform 1 of Calpain-8 OS=Homo sapiens OX=9606 GN=CAPN8 PE=1 SV=3 CANONICAL=A6NHC0-1" }, "isoforms": [ { "isoform_ac": "A3QK36-1", "url": "", "sequence": { "sequence": "DSEITANALKILLNEAFSKRTDIKFDGFNINTCREMISLLDEETQDTMQVPDSSETFWNTEADILDTVRRWPSMNQEGGPHRHQICQCFDLGLLSLRNYEK", "length": 101, "header": "tr|A3QK36-1|A3QK36_HUMAN Computationally mapped isoform of Calpain 8 OS=Homo sapiens OX=9606 GN=CAPN8 PE=1 SV=1 CANONICAL=A6NHC0-1" }, "locus": { "chromosome": "1", "start_pos": 223551017, "end_pos": 223538032, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000442247.5", "url": "https://www.ensembl.org/id/ENST00000442247.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000409233.1", "url": "https://www.ensembl.org/id/ENSP00000409233.1" } ] } }, { "isoform_ac": "A6NHC0-1", "url": "", "sequence": { "sequence": "MAAQAAGVSRQRAATQGLGSNQNALKYLGQDFKTLRQQCLDSGVLFKDPEFPACPSALGYKDLGPGSPQTQGIIWKRPTELCPSPQFIVGGATRTDICQGGLGDCWLLAAIASLTLNEELLYRVVPRDQDFQENYAGIFHFQFWQYGEWVEVVIDDRLPTKNGQLLFLHSEQGNEFWSALLEKAYAKLNGCYEALAGGSTVEGFEDFTGGISEFYDLKKPPANLYQIIRKALCAGSLLGCSIDVSSAAEAEAITSQKLVKSHAYSVTGVEEVNFQGHPEKLIRLRNPWGEVEWSGAWSDDAPEWNHIDPRRKEELDKKVEDGEFWMSLSDFVRQFSRLEICNLSPDSLSSEEVHKWNLVLFNGHWTRGSTAGGCQNYPATYWTNPQFKIRLDEVDEDQEESIGEPCCTVLLGLMQKNRRWRKRIGQGMLSIGYAVYQVPKELESHTDAHLGRDFFLAYQPSARTSTYVNLREVSGRARLPPGEYLVVPSTFEPFKDGEFCLRVFSEKKAQALEIGDVVAGNPYEPHPSEVDQEDDQFRRLFEKLAGKDSEITANALKILLNEAFSKRTDIKFDGFNINTCREMISLLDSNGTGTLGAVEFKTLWLKIQKYLEIYWETDYNHSGTIDAHEMRTALRKAGFTLNSQVQQTIALRYACSKLGINFDSFVACMIRLETLFKLFSLLDEDKDGMVQLSLAEWLCCVLV", "length": 703, "header": "sp|A6NHC0-1|CAN8_HUMAN Isoform 1 of Calpain-8 OS=Homo sapiens OX=9606 GN=CAPN8 PE=1 SV=3 CANONICAL=A6NHC0-1" }, "locus": { "chromosome": "1", "start_pos": 223665646, "end_pos": 223541839, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000366872.10", "url": "https://www.ensembl.org/id/ENST00000366872.10" }, { "database": "Ensembl Peptide", "id": "ENSP00000355837.6", "url": "https://www.ensembl.org/id/ENSP00000355837.6" } ] } }, { "isoform_ac": "B1B154-1", "url": "", "sequence": { "sequence": "MAAQAAGVSRQRAATQGLGSNQNALKYLGQDFKTLRQQCLDSGVLFKDPEFPACPSALGYKDLGPGSPQTQGIIWKRPTELCPSPQFIVGGATRTDICQGGLGDCWLLAAIASLTLNEELLYRVVPRDQDFQENYAGIFHFQFWQYGEWVEVVIDDRLPTKNGQLLFLHSEQGNEFWSALLEKAYAKLNGCYEALAGGSTVEGFEDFTGGISEFYDLKKPPANLYQIIRKALCAGSLLGCSIDVSSAAEAEAITSQKLVKSHAYSVTGVEEVNFQGHPEKLIRLRNPWGEVEWSGAWSDDAPEWNHIDPRRKEELDKKVEDGEFWMSLSDFVRQFSRLEICNLSPDSLSSEEVHKWNLVLFNGHWTRGSTAGGCQNYPGSS", "length": 381, "header": "tr|B1B154-1|B1B154_HUMAN Computationally mapped isoform of Calpain 8 OS=Homo sapiens OX=9606 GN=CAPN8 PE=1 SV=1 CANONICAL=A6NHC0-1" }, "locus": { "chromosome": "1", "start_pos": 223665646, "end_pos": 223618274, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000366873.6", "url": "https://www.ensembl.org/id/ENST00000366873.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000355838.2", "url": "https://www.ensembl.org/id/ENSP00000355838.2" } ] } }, { "isoform_ac": "H0YDN4-1", "url": "", "sequence": { "sequence": "ELCPSPQFIVGGATRTDICQGGLETRWMRIGLVGFRSN", "length": 38, "header": "tr|H0YDN4-1|CAN8_HUMAN Computationally mapped isoform of Calpain-8 OS=Homo sapiens OX=9606 GN=CAPN8 PE=1 SV=1 CANONICAL=A6NHC0-1" }, "locus": { "chromosome": "1", "start_pos": 223654399, "end_pos": 223642790, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000467384.6", "url": "https://www.ensembl.org/id/ENST00000467384.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000434013.1", "url": "https://www.ensembl.org/id/ENSP00000434013.1" } ] } }, { "isoform_ac": "H0YEJ4-1", "url": "", "sequence": { "sequence": "XQDFQENYAGIFHFQFWQYGEWVEVVIDDRLPTKNGQLLFLHSEQGNEFWSALLEKAYAKLNGCYEALAGGSTVEGFEDFTGGISEFYDLKKPPANLYQIIRKALCAGSLLGCSIDVSSAAEAEAITSQKLVKSHAYSVTGVEEVNFQGHPEKLIRLRNPWGEVEWSGAWSDE", "length": 173, "header": "tr|H0YEJ4-1|CAN8_HUMAN Computationally mapped isoform of Calpain-8 OS=Homo sapiens OX=9606 GN=CAPN8 PE=1 SV=1 CANONICAL=A6NHC0-1" }, "locus": { "chromosome": "1", "start_pos": 223628705, "end_pos": 223622813, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000465098.1", "url": "https://www.ensembl.org/id/ENST00000465098.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000435953.1", "url": "https://www.ensembl.org/id/ENSP00000435953.1" } ] } }, { "isoform_ac": "H0YEQ4-1", "url": "", "sequence": { "sequence": "XLFSLLDEDKDGMVQLSLAE", "length": 20, "header": "tr|H0YEQ4-1|H0YEQ4_HUMAN Computationally mapped isoform of Calpain 8 OS=Homo sapiens OX=9606 GN=CAPN8 PE=4 SV=1 CANONICAL=A6NHC0-1" }, "locus": { "chromosome": "1", "start_pos": 223543166, "end_pos": 223543108, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000484873.6", "url": "https://www.ensembl.org/id/ENST00000484873.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000436371.1", "url": "https://www.ensembl.org/id/ENSP00000436371.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "A6NHC0", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=A6NHC0" }, { "id": "37217939", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37217939" } ] } ], "phosphorylation": [], "glycation": [], "keywords": [ "enzyme", "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Fibrillin degradation by matrix metalloproteinases: implications for connective tissue remodelling.", "journal": "The Biochemical journal", "date": "1999", "authors": "Ashworth JL, Murphy G, Rock MJ, Sherratt MJ, Shapiro SD, Shuttleworth CA, Kielty CM", "evidence": [ { "database": "Reactome", "id": "R-HSA-1474228", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1474228" } ], "reference": [ { "type": "PubMed", "id": "10229672", "url": "https://glygen.org/publication/PubMed/10229672" } ] }, { "title": "Fibrillin degradation by matrix metalloproteinases: identification of amino- and carboxy-terminal cleavage sites.", "journal": "FEBS letters", "date": "1999", "authors": "Hindson VJ, Ashworth JL, Rock MJ, Cunliffe S, Shuttleworth CA, Kielty CM", "evidence": [ { "database": "Reactome", "id": "R-HSA-1474228", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1474228" } ], "reference": [ { "type": "PubMed", "id": "10386589", "url": "https://glygen.org/publication/PubMed/10386589" } ] }, { "title": "EMMPRIN (CD147), an inducer of matrix metalloproteinase synthesis, also binds interstitial collagenase to the tumor cell surface.", "journal": "Cancer research", "date": "2000", "authors": "Guo H, Li R, Zucker S, Toole BP", "evidence": [ { "database": "Reactome", "id": "R-HSA-1474228", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1474228" } ], "reference": [ { "type": "PubMed", "id": "10706100", "url": "https://glygen.org/publication/PubMed/10706100" } ] }, { "title": "Biochemical characterization of the catalytic domain of human matrix metalloproteinase 19. Evidence for a role as a potent basement membrane degrading enzyme.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Stracke JO, Hutton M, Stewart M, Pendas AM, Smith B, Lopez-Otin C, Murphy G, Knauper V", "evidence": [ { "database": "Reactome", "id": "R-HSA-1474228", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1474228" } ], "reference": [ { "type": "PubMed", "id": "10809722", "url": "https://glygen.org/publication/PubMed/10809722" } ] }, { "title": "Brevican is degraded by matrix metalloproteinases and aggrecanase-1 (ADAMTS4) at different sites.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Nakamura H, Fujii Y, Inoki I, Sugimoto K, Tanzawa K, Matsuki H, Miura R, Yamaguchi Y, Okada Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-1474228", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1474228" } ], "reference": [ { "type": "PubMed", "id": "10986281", "url": "https://glygen.org/publication/PubMed/10986281" } ] }, { "title": "Osteopontin, a novel substrate for matrix metalloproteinase-3 (stromelysin-1) and matrix metalloproteinase-7 (matrilysin).", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Agnihotri R, Crawford HC, Haro H, Matrisian LM, Havrda MC, Liaw L", "evidence": [ { "database": "Reactome", "id": "R-HSA-1474228", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1474228" } ], "reference": [ { "type": "PubMed", "id": "11375993", "url": "https://glygen.org/publication/PubMed/11375993" } ] }, { "title": "Both the conserved and the unique gene structure of stomach-specific calpains reveal processes of calpain gene evolution.", "journal": "J. Mol. Evol.", "date": "2001", "authors": "Hata S, Nishi K, Kawamoto T, Lee HJ, Kawahara H, Maeda T, Shintani Y, Sorimachi H, Suzuki K", "evidence": [ { "database": "UniProtKB", "id": "A6NHC0", "url": "https://www.uniprot.org/uniprot/A6NHC0" } ], "reference": [ { "type": "PubMed", "id": "11523006", "url": "https://glygen.org/publication/PubMed/11523006" } ] }, { "title": "Overexpression of alpha(v)beta6 integrin in serous epithelial ovarian cancer regulates extracellular matrix degradation via the plasminogen activation cascade.", "journal": "Carcinogenesis", "date": "2002", "authors": "Ahmed N, Pansino F, Clyde R, Murthi P, Quinn MA, Rice GE, Agrez MV, Mok S, Baker MS", "evidence": [ { "database": "Reactome", "id": "R-HSA-1474228", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1474228" } ], "reference": [ { "type": "PubMed", "id": "11872628", "url": "https://glygen.org/publication/PubMed/11872628" } ] }, { "title": "Matriptase-2, a membrane-bound mosaic serine proteinase predominantly expressed in human liver and showing degrading activity against extracellular matrix proteins.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Velasco G, Cal S, Quesada V, Sanchez LM, Lopez-Otin C", "evidence": [ { "database": "Reactome", "id": "R-HSA-1474228", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1474228" } ], "reference": [ { "type": "PubMed", "id": "12149247", "url": "https://glygen.org/publication/PubMed/12149247" } ] }, { "title": "Membrane type-1-matrix metalloproteinase expressed by prostate carcinoma cells cleaves human laminin-5 beta3 chain and induces cell migration.", "journal": "Cancer research", "date": "2003", "authors": "Udayakumar TS, Chen ML, Bair EL, Von Bredow DC, Cress AE, Nagle RB, Bowden GT", "evidence": [ { "database": "Reactome", "id": "R-HSA-1474228", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1474228" } ], "reference": [ { "type": "PubMed", "id": "12727852", "url": "https://glygen.org/publication/PubMed/12727852" } ] }, { "title": "The calpain system.", "journal": "Physiological reviews", "date": "2003", "authors": "Goll DE, Thompson VF, Li H, Wei W, Cong J", "evidence": [ { "database": "Reactome", "id": "R-HSA-1474228", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1474228" } ], "reference": [ { "type": "PubMed", "id": "12843408", "url": "https://glygen.org/publication/PubMed/12843408" } ] }, { "title": "HtrA1 serine protease inhibits signaling mediated by Tgfbeta family proteins.", "journal": "Development (Cambridge, England)", "date": "2004", "authors": "Oka C, Tsujimoto R, Kajikawa M, Koshiba-Takeuchi K, Ina J, Yano M, Tsuchiya A, Ueta Y, Soma A, Kanda H, Matsumoto M, Kawaichi M", "evidence": [ { "database": "Reactome", "id": "R-HSA-1474228", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1474228" } ], "reference": [ { "type": "PubMed", "id": "14973287", "url": "https://glygen.org/publication/PubMed/14973287" } ] }, { "title": "A novel secreted, cell-surface glycoprotein containing multiple epidermal growth factor-like repeats and one CUB domain is highly expressed in primary osteoblasts and bones.", "journal": "The Journal of biological chemistry", "date": "2004", "authors": "Wu BT, Su YH, Tsai MT, Wasserman SM, Topper JN, Yang RB", "evidence": [ { "database": "Reactome", "id": "R-HSA-1474228", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1474228" } ], "reference": [ { "type": "PubMed", "id": "15234972", "url": "https://glygen.org/publication/PubMed/15234972" } ] }, { "title": "BMP-1/Tolloid-like metalloproteases process endorepellin, the angiostatic C-terminal fragment of perlecan.", "journal": "The Journal of biological chemistry", "date": "2005", "authors": "Gonzalez EM, Reed CC, Bix G, Fu J, Zhang Y, Gopalakrishnan B, Greenspan DS, Iozzo RV", "evidence": [ { "database": "Reactome", "id": "R-HSA-1474228", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1474228" } ], "reference": [ { "type": "PubMed", "id": "15591058", "url": "https://glygen.org/publication/PubMed/15591058" } ] }, { "title": "ADAM10 mediates E-cadherin shedding and regulates epithelial cell-cell adhesion, migration, and beta-catenin translocation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2005", "authors": "Maretzky T, Reiss K, Ludwig A, Buchholz J, Scholz F, Proksch E, de Strooper B, Hartmann D, Saftig P", "evidence": [ { "database": "Reactome", "id": "R-HSA-1474228", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1474228" } ], "reference": [ { "type": "PubMed", "id": "15958533", "url": "https://glygen.org/publication/PubMed/15958533" } ] }, { "title": "Human glioblastomas overexpress ADAMTS-5 that degrades brevican.", "journal": "Acta neuropathologica", "date": "2005", "authors": "Nakada M, Miyamori H, Kita D, Takahashi T, Yamashita J, Sato H, Miura R, Yamaguchi Y, Okada Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-1474228", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1474228" } ], "reference": [ { "type": "PubMed", "id": "16133547", "url": "https://glygen.org/publication/PubMed/16133547" } ] }, { "title": "Matrix metalloproteinase degradation of elastin, type IV collagen and proteoglycan. A quantitative comparison of the activities of 95 kDa and 72 kDa gelatinases, stromelysins-1 and -2 and punctuated metalloproteinase (PUMP).", "journal": "The Biochemical journal", "date": "1991", "authors": "Murphy G, Cockett MI, Ward RV, Docherty AJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-1474228", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1474228" } ], "reference": [ { "type": "PubMed", "id": "1649600", "url": "https://glygen.org/publication/PubMed/1649600" } ] }, { "title": "Alpha-V-dependent outside-in signaling is required for the regulation of CD44 surface expression, MMP-2 secretion, and cell migration by osteopontin in human melanoma cells.", "journal": "Experimental cell research", "date": "2006", "authors": "Samanna V, Wei H, Ego-Osuala D, Chellaiah MA", "evidence": [ { "database": "Reactome", "id": "R-HSA-1474228", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1474228" } ], "reference": [ { "type": "PubMed", "id": "16631740", "url": "https://glygen.org/publication/PubMed/16631740" } ] }, { "title": "Cathepsin s promotes human preadipocyte differentiation: possible involvement of fibronectin degradation.", "journal": "Endocrinology", "date": "2006", "authors": "Taleb S, Cancello R, Clement K, Lacasa D", "evidence": [ { "database": "Reactome", "id": "R-HSA-1474228", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1474228" } ], "reference": [ { "type": "PubMed", "id": "16825321", "url": "https://glygen.org/publication/PubMed/16825321" } ] }, { "title": "Sequence identity between the alpha 2-macroglobulin receptor and low density lipoprotein receptor-related protein suggests that this molecule is a multifunctional receptor.", "journal": "The Journal of biological chemistry", "date": "1990", "authors": "Strickland DK, Ashcom JD, Williams S, Burgess WH, Migliorini M, Argraves WS", "evidence": [ { "database": "Reactome", "id": "R-HSA-1474228", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1474228" } ], 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procollagenase-3, substrate specificity, and tissue inhibitor of metalloproteinase interaction.", "journal": "The Journal of biological chemistry", "date": "1997", "authors": "Knauper V, Cowell S, Smith B, Lopez-Otin C, O'Shea M, Morris H, Zardi L, Murphy G", "evidence": [ { "database": "Reactome", "id": "R-HSA-1474228", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1474228" } ], "reference": [ { "type": "PubMed", "id": "9065415", "url": "https://glygen.org/publication/PubMed/9065415" } ] }, { "title": "Hydrolysis of a broad spectrum of extracellular matrix proteins by human macrophage elastase.", "journal": "The Journal of biological chemistry", "date": "1997", "authors": "Gronski TJ Jr, Martin RL, Kobayashi DK, Walsh BC, Holman MC, Huber M, Van Wart HE, Shapiro SD", "evidence": [ { "database": "Reactome", "id": "R-HSA-1474228", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1474228" } ], "reference": [ { "type": "PubMed", "id": "9115292", "url": 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"sequence": { "sequence": "MAALAAGISKQRAAAQGLGSNQNAVKYLGQDFETLRKQCLNSGVLFKDPEFPACPSALGYRDLGPGSAETQGIIWKRPTELCSNPQFIVGGATRTDIRQGGLGDCWLLAAIASLTLNEKLLYRVVPRDQSFQKNYAGIFHFQFWQYGEWVEVVIDDRLPTKNGQLLFLHSEEGNEFWSALLEKAYAKLNGSYEALAGGSTIEGFEDFTGGISEFYDLRKPPGNLYYTIQKALRKGSLLGCSIDVSNAAEAEATTRQKLVKGHAYSVTGVEEVDFRGLPEKLIRLRNPWGEVEWTGAWSDSAPEWNYIDPQKKGELDKRAEDGEFWMSFSDFLKQFSRLEICNLSPDSLSSEEIHKWNLVLFNGRWTRGSTAGGCQNYPATYWTNPQFKIHLDEVDEDQEEGTSEPCCTVLLGLMQKNRRRQRRIGQGMLSIGYAVYQIPKELENHTDEHLGRDFFQGRQPSTCSSTYMNLREVSSRVQLPPGQYLVVPSTFEPFKDGDFCLRVFSEKKAQALEIGDAVPGDPHEPHPRDMDGEDEHFWSLSEEFADKDSEISAHQLKRVLNGLLSKRTDMKFDGFNINTCREMISLLDGDGTGSLRPVEFKTLWLKICKYLEIYQEMDHSRAGTIDAHEMRTALKKAGFTLNNQVQQTIATRYACSKLGVDFDGFVACMIRLEILFKLFRLLDKDQNGIVQLSLAEWLCRALV", "length": 703 }, "evidence": [ { "id": "45929068", "url": "http://www.informatics.jax.org/homology/45929068", "database": "MGI" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Molecular Function", "total": 2, "go_terms": [ { "name": "calcium-dependent cysteine-type endopeptidase activity", "id": "GO:0004198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004198", "evidence": [ { "database": "UniProtKB", "id": "A6NHC0", "url": "https://www.uniprot.org/uniprot/A6NHC0" } ], "pmid": "" }, { "name": "calcium ion binding", "id": "GO:0005509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005509", "evidence": [ { "database": "UniProtKB", "id": "A6NHC0", "url": "https://www.uniprot.org/uniprot/A6NHC0" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 1, "go_terms": [ { "name": "proteolysis", "id": "GO:0006508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006508", "evidence": [ { "database": "UniProtKB", "id": "A6NHC0", "url": "https://www.uniprot.org/uniprot/A6NHC0" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 2, "go_terms": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "A6NHC0", "url": "https://www.uniprot.org/uniprot/A6NHC0" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "A6NHC0", "url": "https://www.uniprot.org/uniprot/A6NHC0" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 342, "end_pos": 344, "annotation": "n_glycosylation_sequon" }, { "start_pos": 590, "end_pos": 592, "annotation": "n_glycosylation_sequon" }, { "start_pos": 620, "end_pos": 622, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [ { "id": "R-HSA-8848658", "name": "CAPN:4xCa2+:CAPNS cleave cytoskeletal proteins", "equation": "", "summary": "Calpains (EC 3.4.22.17; CAPN, Clan CA, family C02) constitute a distinct group of intracellular cysteine proteases found in almost all eukaryotes and a few bacteria. Calpains can be described as cytosolic proteases exhibiting Ca2+-dependent limited proteolytic activity which function to transform or modulate their substrate proteins' structures and activities; they are therefore called modulator proteases. As calpains selectively cleave proteins in response to calcium signals, they have the potential to influence cellular functions such as signal transduction, cytoskeletal remodelling, cell motility, membrane repair, cell cycle progression, gene expression and apoptosis (Sorimachi et al. 2010). Calpain deficiencies are linked to a variety of defects in many different organisms, including lethality, muscular dystrophies, gastropathy and diabetes (Sorimachi et al. 2011).

The human genome has 15 genes (named using formal nomenclature as CAPN1, CAPN2, etc.) that encode a calpain-like protease domain. The two best-characterised members of the calpain family, CAPN1 and 2, are ubiquitously expressed and locate to the cytosol of the cell (Goll et al. 2003). All other calpains annotated here are assumed to be functionally similar to these two based on their structural similarites. They are heterodimers, consisting of a common small regulatory subunit (CAPNS1 or CAPNS2; ca. 30kDa) and a large, isoform-specific catalytic subunit. Three-dimensional structural analyses reveal the calpain protease domain comprises two core domains that fuse to form a functional protease only when bound to ca. four Ca2+ ions via well-conserved amino acids. So, despite the fact that they have divergent domain structures, calpains share this mechanistic functional character (Croall & Ersfeld 2007, Sorimachi et al. 2011, Ono & Sorimachi 2012).

Calpain activity is tightly regulated by the endogenous inhibitor calpastatin (CAST), which is capable of reversibly binding and inhibiting four molecules of calpain in the presence of calcium. This suggests calpains are transiently activated by high Ca2+ concentrations such as a Ca2+ influx, and then return to an inactive state ready for reactivation (Campbell & Davies 2012).", "cellular_location": "cytosol", "input_participant_list": [ "R-ALL-8848706" ], "output_participant_list": [ "R-ALL-8848709" ], "enzyme_list": [ "Q6MZZ7-1", "O75808-1", "Q9Y6W3-1", "A6NHC0-1", "A8MX76-1", "O14815-1", "P17655-1", "Q6ZSI9-1", "Q9HC96-1", "P07384-1", "P20807-1", "Q9UMQ6-1", "O15484-1" ], "evidence": [ { "id": "R-HSA-8848658", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8848658" } ] } ], "reaction_participants": [ { "participant_id": "R-ALL-8848706", "participant_name": "substrate protein for calpains [cytosol]", "crossref": [ { "id": "36080", "database": "ChEBI", "url": "" }, { "id": "36080", "database": "ChEBI", "url": "" }, { "id": "36080", "database": "ChEBI", "url": "" }, { "id": "36080", "database": "ChEBI", "url": "" } ] }, { "participant_id": "R-ALL-8848709", "participant_name": "calpain-cleaved protein [cytosol]", "crossref": [ { "id": "15841", "database": "ChEBI", "url": "" }, { "id": "15841", "database": "ChEBI", "url": "" }, { "id": "15841", "database": "ChEBI", "url": "" }, { "id": "15841", "database": "ChEBI", "url": "" } ] } ], "reaction_enzymes": [ { "uniprot_ac": "A6NHC0", "gene_name": "CAPN8", "activity": [ { "ec_number": "3.4.22.53", "activity": "Broad endopeptidase specificity.", "evidence": [ { "id": "A6NHC0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A6NHC0" } ] }, { "ec_number": "3.4.22.53", "activity": "", "evidence": [ { "id": "A6NHC0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A6NHC0" } ] } ] }, { "uniprot_ac": "A8MX76", "gene_name": "CAPN14", "activity": [ { "ec_number": "3.4.22.-", "activity": "", "evidence": [ { "id": "A8MX76", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A8MX76" } ] } ] }, { "uniprot_ac": "O14815", "gene_name": "CAPN9", "activity": [ { "ec_number": "3.4.22.-", "activity": "", "evidence": [ { "id": "O14815", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O14815" } ] } ] }, { "uniprot_ac": "O15484", "gene_name": "CAPN5", "activity": [ { "ec_number": "3.4.22.-", "activity": "", "evidence": [ { "id": "O15484", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O15484" } ] } ] }, { "uniprot_ac": "O75808", "gene_name": "CAPN15", "activity": [ { "ec_number": "3.4.22.-", "activity": "", "evidence": [ { "id": "O75808", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O75808" } ] } ] }, { "uniprot_ac": "P07384", "gene_name": "CAPN1", "activity": [ { "ec_number": "3.4.22.52", "activity": "Broad endopeptidase specificity.", "evidence": [ { "id": "P07384", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07384" } ] }, { "ec_number": "3.4.22.52", "activity": "", "evidence": [ { "id": "P07384", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07384" } ] } ] }, { "uniprot_ac": "P17655", "gene_name": "CAPN2", "activity": [ { "ec_number": "3.4.22.53", "activity": "Broad endopeptidase specificity.", "evidence": [ { "id": "P17655", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P17655" } ] }, { "ec_number": "3.4.22.53", "activity": "", "evidence": [ { "id": "P17655", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P17655" } ] } ] }, { "uniprot_ac": "P20807", "gene_name": "CAPN3", "activity": [ { "ec_number": "3.4.22.54", "activity": "Broad endopeptidase activity.", "evidence": [ { "id": "P20807", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P20807" } ] }, { "ec_number": "3.4.22.54", "activity": "", "evidence": [ { "id": "P20807", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P20807" } ] } ] }, { "uniprot_ac": "Q6MZZ7", "gene_name": "CAPN13", "activity": [ { "ec_number": "3.4.22.-", "activity": "", "evidence": [ { "id": "Q6MZZ7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q6MZZ7" } ] } ] }, { "uniprot_ac": "Q6ZSI9", "gene_name": "CAPN12", "activity": [ { "ec_number": "3.4.22.-", "activity": "", "evidence": [ { "id": "Q6ZSI9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q6ZSI9" } ] } ] }, { "uniprot_ac": "Q9HC96", "gene_name": "CAPN10", "activity": [ { "ec_number": "3.4.22.-", "activity": "", "evidence": [ { "id": "Q9HC96", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9HC96" } ] } ] }, { "uniprot_ac": "Q9UMQ6", "gene_name": "CAPN11", "activity": [ { "ec_number": "3.4.22.-", "activity": "", "evidence": [ { "id": "Q9UMQ6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9UMQ6" } ] } ] }, { "uniprot_ac": "Q9Y6W3", "gene_name": "CAPN7", "activity": [ { "ec_number": "3.4.22.-", "activity": "", "evidence": [ { "id": "Q9Y6W3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9Y6W3" } ] } ] } ], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" } ], "sequence_features": { "n_linked_sites": [], "o_linked_sites": [], "snv_sites": [ 249 ], "glycation_sites": [], "phosphorylation_sites": [], "sequon_annotation_sites": [ { "start_pos": 342, "end_pos": 344 }, { "start_pos": 590, "end_pos": 592 }, { "start_pos": 620, "end_pos": 622 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 } ], "sort_fields": [ "start_pos", "end_pos", "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 } ], "sort_fields": [ "start_pos", "end_pos", "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 52 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }