{ "uniprot_canonical_ac": "A8K2U0-1", "uniprot_ac": "A8K2U0", "uniprot_id": "A2ML1_HUMAN", "mass": { "chemical_mass": 161107.0, "monoisotopic_mass": 161107.0 }, "refseq": { "ac": "NP_001269353", "name": "alpha-2-macroglobulin-like protein 1 isoform 2", "summary": "This gene encodes a member of the alpha-macroglobulin superfamily. The encoded protein is thought to be an N-glycosylated monomeric protein that acts as an inhibitor of several proteases. It has been shown to form covalent interactions with proteases, and has been reported as the p170 antigen recognized by autoantibodies in the autoimmune disease paraneoplastic pemphigus (PNP; PMID:20805888). Mutations in these gene have also been associated with some cases of Noonan syndrome (NS; PMID:24939586) as well as some cases of otitis media (PMID:26121085). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269353" }, "gene_names": [ { "name": "A2ML1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/A8K2U0", "id": "A8K2U0" }, { "name": "A2ML1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269353", "id": "NP_001269353" }, { "name": "CPAMD9; OMS; p170", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269353", "id": "NP_001269353" }, { "name": "CPAMD9", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/A8K2U0", "id": "A8K2U0" } ], "protein_names": [ { "name": "Alpha-2-macroglobulin-like protein 1", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "A8K2U0" }, { "name": "C3 and PZP-like alpha-2-macroglobulin domain-containing protein 9", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "A8K2U0" }, { "name": "C3 and PZP-like, alpha-2-macroglobulin domain containing 9; alpha-2-macroglobulin-like protein 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269353", "id": "NP_001269353" }, { "name": "alpha-2-macroglobulin-like protein 1 isoform 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269353", "id": "NP_001269353" } ], "function": [ { "annotation": "A new class of target antigens in a paraneoplastic autoimmune multiorgan syndrome Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001269353", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269353" }, { "database": "PubMed", "id": "20805888", "url": "https://glygen.org/publication/PubMed/20805888" } ] }, { "annotation": "A2ML1 Inhibits Esophageal Squamous Cell Carcinoma Progression and Serves as a Novel Prognostic Biomarker. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001269353", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269353" }, { "database": "PubMed", "id": "37954860", "url": "https://glygen.org/publication/PubMed/37954860" } ] }, { "annotation": "Alpha2ML1 binding to the low density lipoprotein receptor-related protein 1 (LRP1) reveals a new role for LRP1 in the human epidermis Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001269353", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269353" }, { "database": "PubMed", "id": "18648652", "url": "https://glygen.org/publication/PubMed/18648652" } ] }, { "annotation": "Alpha2ML1 is the first alpha2macroglobulin family member detected in the epidermis, where it may play an important role during desquamation by inhibiting extracellular proteases.", "evidence": [ { "database": "RefSeq", "id": "NP_001269353", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269353" }, { "database": "PubMed", "id": "16298998", "url": "https://glygen.org/publication/PubMed/16298998" } ] }, { "annotation": "Audiologic Measures in an Indigenous Community with A2ML1- and FUT2-Related Otitis Media.", "evidence": [ { "database": "RefSeq", "id": "NP_001269353", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269353" }, { "database": "PubMed", "id": "36719978", "url": "https://glygen.org/publication/PubMed/36719978" } ] }, { "annotation": "Cryo-EM structures of human A2ML1 elucidate the protease-inhibitory mechanism of the A2M family. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001269353", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269353" }, { "database": "PubMed", "id": "35641520", "url": "https://glygen.org/publication/PubMed/35641520" } ] }, { "annotation": "Is able to inhibit all four classes of proteinases by a unique 'trapping' mechanism. This protein has a peptide stretch, called the 'bait region' which contains specific cleavage sites for different proteinases. When a proteinase cleaves the bait region, a conformational change is induced in the protein which traps the proteinase. The entrapped enzyme remains active against low molecular weight substrates (activity against high molecular weight substrates is greatly reduced). Following cleavage in the bait region a thioester bond is hydrolyzed and mediates the covalent binding of the protein to the proteinase (By similarity). Displays inhibitory activity against chymotrypsin, papain, thermolysin, subtilisin A and, to a lesser extent, elastase but not trypsin. May play an important role during desquamation by inhibiting extracellular proteases.", "evidence": [ { "database": "UniProtKB", "id": "A8K2U0", "url": "https://www.uniprot.org/uniprot/A8K2U0#function" }, { "database": "UniProtKB", "id": "P01023", "url": "https://www.uniprot.org/uniprot/P01023#function" }, { "database": "PubMed", "id": "16298998", "url": "https://glygen.org/publication/PubMed/16298998" } ] }, { "annotation": "Our results provide evidence that mutations in A2ML1 are a cause of Noonan-like syndrome, with a variable phenotype ranging from severe to very mild.", "evidence": [ { "database": "RefSeq", "id": "NP_001269353", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269353" }, { "database": "PubMed", "id": "24939586", "url": "https://glygen.org/publication/PubMed/24939586" } ] }, { "annotation": "Studies support a role for alpha-2-macroglobulin-like 1 protein (A2ML1) in the pathophysiology of otitis media.", "evidence": [ { "database": "RefSeq", "id": "NP_001269353", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269353" }, { "database": "PubMed", "id": "26121085", "url": "https://glygen.org/publication/PubMed/26121085" } ] }, { "annotation": "This gene encodes a member of the alpha-macroglobulin superfamily. The encoded protein is thought to be an N-glycosylated monomeric protein that acts as an inhibitor of several proteases. It has been shown to form covalent interactions with proteases, and has been reported as the p170 antigen recognized by autoantibodies in the autoimmune disease paraneoplastic pemphigus (PNP; PMID:20805888). Mutations in these gene have also been associated with some cases of Noonan syndrome (NS; PMID:24939586) as well as some cases of otitis media (PMID:26121085). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015].", "evidence": [ { "database": "RefSeq", "id": "NP_001269353", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269353" } ] } ], "disease": [ { "disease_id": "MONDO:0008162", "recommended_name": { "id": "MONDO:0008162", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008162", "name": "otitis media, susceptibility to", "description": "" }, "synonyms": [ { "id": "MONDO:0008162", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008162", "name": "otitis media, susceptibility to", "description": "" }, { "id": "MONDO:0008162", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008162", "name": "OMS", "description": "" }, { "id": "MONDO:0008162", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008162", "name": "come/Rom", "description": "" }, { "id": "MONDO:0008162", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008162", "name": "otitis Media, chronic/recurrent", "description": "" }, { "id": "MIM:166760", "resource": "MIM", "url": "https://www.omim.org/entry/166760", "name": "Otitis media", "description": "Otitis media" } ], "evidence": [ { "id": "166760", "database": "MIM", "url": "https://www.omim.org/entry/166760" } ] } ], "snv": [ { "evidence": [ { "id": "A8K2U0", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A8K2U0" }, { "id": "rs368024371", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs368024371" }, { "id": "rs368024371", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs368024371" }, { "id": "rs368024371", "database": "NCI-TCGA", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs368024371" }, { "id": "rs368024371", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs368024371#frequency_tab" }, { "id": "rs368024371", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs368024371" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 480, "end_pos": 480, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 2 out of 6 filters: num. of cancers (3); n-glyco-sequon-gain (DAS->NAS).", "chr_id": "12", "chr_pos": "8843323", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "D480", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ] }, { "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, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "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": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "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" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs1020098673", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1020098673" }, { "id": "rs1020098673", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1020098673" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 1020, "end_pos": 1020, "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NGS->DGS).", "chr_id": "12", "chr_pos": "8857539", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N1020", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "A8K2U0", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A8K2U0" }, { "id": "rs774567479", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774567479" }, { "id": "rs774567479", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774567479" }, { "id": "rs774567479", "database": "NCI-TCGA", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774567479" }, { "id": "rs774567479", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs774567479" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 1125, "end_pos": 1125, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "K", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (KNS->NNS).", "chr_id": "12", "chr_pos": "8861170", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "K1125", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": 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"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 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"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 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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, 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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": "Yes", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "A8K2U0", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A8K2U0" } ], "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", 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"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", 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"" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": 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{ "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "No", "trend": "down", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "A8K2U0", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A8K2U0" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", 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}, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "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" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "A8K2U0", "url": "https://www.uniprot.org/uniprot/A8K2U0" } ], "common_name": "Human" } ], "gene": [ { "name": "A2ML1", "url": "https://www.uniprot.org/uniprot/A8K2U0", "locus": { "chromosome": "12", "start_pos": 8887001, "end_pos": 8822621, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000166535", "url": "https://www.ensembl.org/id/ENSG00000166535" } ] } } ], "crossref": [ { "id": "ENSG00000166535", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000166535", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "A8K2U0", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A8K2U0", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "cd02897", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd02897", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "A2ML1", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=A2ML1", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "144568", "url": "https://www.ncbi.nlm.nih.gov/gene/144568", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "1003", "url": "https://glyconnect.expasy.org/browser/proteins/1003", "database": "GlyConnect", "categories": [ "Glycoproteomics", "Glycan" ] }, { "id": "23336", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=23336", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "A8K2U0", "url": "https://www.ebi.ac.uk/intact/interactors/id:A8K2U0*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR001599", "url": "https://www.ebi.ac.uk/interpro/entry/IPR001599", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR002890", "url": "https://www.ebi.ac.uk/interpro/entry/IPR002890", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR008930", "url": "https://www.ebi.ac.uk/interpro/entry/IPR008930", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR009048", "url": "https://www.ebi.ac.uk/interpro/entry/IPR009048", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR011625", "url": "https://www.ebi.ac.uk/interpro/entry/IPR011625", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR011626", "url": "https://www.ebi.ac.uk/interpro/entry/IPR011626", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR013783", "url": "https://www.ebi.ac.uk/interpro/entry/IPR013783", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR014756", "url": "https://www.ebi.ac.uk/interpro/entry/IPR014756", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR019742", "url": "https://www.ebi.ac.uk/interpro/entry/IPR019742", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR036595", "url": "https://www.ebi.ac.uk/interpro/entry/IPR036595", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR040839", "url": "https://www.ebi.ac.uk/interpro/entry/IPR040839", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR041555", "url": "https://www.ebi.ac.uk/interpro/entry/IPR041555", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR041813", "url": "https://www.ebi.ac.uk/interpro/entry/IPR041813", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR047565", "url": "https://www.ebi.ac.uk/interpro/entry/IPR047565", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:144568", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:144568", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "166760", "url": "http://www.omim.org/entry/166760", "database": "MIM", "categories": [ "Other" ] }, { "id": "610627", "url": "http://www.omim.org/entry/610627", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_A8K2U0", "url": "https://www.nextprot.org/entry/NX_A8K2U0", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "YQNAYLH", "url": "https://omabrowser.org/oma/group/YQNAYLH/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "2970602at2759", "url": "http://www.orthodb.org/?query=2970602at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR11412", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11412", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR11412:SF150", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11412:SF150", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "7Q1Y", "url": "https://www.rcsb.org/structure/7Q1Y", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7Q5Z", "url": "https://www.rcsb.org/structure/7Q5Z", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7Q60", "url": "https://www.rcsb.org/structure/7Q60", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7Q61", "url": "https://www.rcsb.org/structure/7Q61", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7Q62", "url": "https://www.rcsb.org/structure/7Q62", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF00207", "url": "http://pfam.xfam.org/family/PF00207", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF01835", "url": "http://pfam.xfam.org/family/PF01835", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF07677", "url": "http://pfam.xfam.org/family/PF07677", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF07678", "url": "http://pfam.xfam.org/family/PF07678", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF07703", "url": "http://pfam.xfam.org/family/PF07703", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF17789", "url": "http://pfam.xfam.org/family/PF17789", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF17791", "url": "http://pfam.xfam.org/family/PF17791", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "A8K2U0", "url": "https://pharos.nih.gov/targets/A8K2U0", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_A8K2U0", "url": "http://purl.obolibrary.org/obo/PR_A8K2U0", "database": "PRO", "categories": [ "Protein" ] }, { "id": "NP_001269353", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269353", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "A8K2U0", "url": "https://www.uniprot.org/uniprot/A8K2U0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A8K2U0-1", "url": "https://www.uniprot.org/uniprot/A8K2U0-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A8K2U0-2", "url": "https://www.uniprot.org/uniprot/A8K2U0-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F5GXP1", "url": "https://www.uniprot.org/uniprot/F5GXP1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F5GXP1-1", "url": "https://www.uniprot.org/uniprot/F5GXP1-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F5GYG7", "url": "https://www.uniprot.org/uniprot/F5GYG7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F5GYG7-1", "url": "https://www.uniprot.org/uniprot/F5GYG7-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YGG5", "url": "https://www.uniprot.org/uniprot/H0YGG5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YGG5-1", "url": "https://www.uniprot.org/uniprot/H0YGG5-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YH14", "url": "https://www.uniprot.org/uniprot/H0YH14", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YH14-1", "url": "https://www.uniprot.org/uniprot/H0YH14-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MWAQLLLGMLALSPAIAEELPNYLVTLPARLNFPSVQKVCLDLSPGYSDVKFTVTLETKDKTQKLLEYSGLKKRHLHCISFLVPPPAGGTEEVATIRVSGVGNNISFEEKKKVLIQRQGNGTFVQTDKPLYTPGQQVYFRIVTMDSNFVPVNDKYSMVELQDPNSNRIAQWLEVVPEQGIVDLSFQLAPEAMLGTYTVAVAEGKTFGTFSVEEYVLPKFKVEVVEPKELSTVQESFLVKICCRYTYGKPMLGAVQVSVCQKANTYWYREVEREQLPDKCRNLSGQTDKTGCFSAPVDMATFDLIGYAYSHQINIVATVVEEGTGVEANATQNIYISPQMGSMTFEDTSNFYHPNFPFSGKIRVRGHDDSFLKNHLVFLVIYGTNGTFNQTLVTDNNGLAPFTLETSGWNGTDVSLEGKFQMEDLVYNPEQVPRYYQNAYLHLRPFYSTTRSFLGIHRLNGPLKCGQPQEVLVDYYIDPADASPDQEISFSYYLIGKGSLVMEGQKHLNSKKKGLKASFSLSLTFTSRLAPDPSLVIYAIFPSGGVVADKIQFSVEMCFDNQVSLGFSPSQQLPGAEVELQLQAAPGSLCALRAVDESVLLLRPDRELSNRSVYGMFPFWYGHYPYQVAEYDQCPVSGPWDFPQPLIDPMPQGHSSQRSIIWRPSFSEGTDLFSFFRDVGLKILSNAKIKKPVDCSHRSPEYSTAMGAGGGHPEAFESSTPLHQAEDSQVRQYFPETWLWDLFPIGNSGKEAVHVTVPDAITEWKAMSFCTSQSRGFGLSPTVGLTAFKPFFVDLTLPYSVVRGESFRLTATIFNYLKDCIRVQTDLAKSHEYQLESWADSQTSSCLCADDAKTHHWNITAVKLGHINFTISTKILDSNEPCGGQKGFVPQKGRSDTLIKPVLVKPEGVLVEKTHSSLLCPKGKVASESVSLELPVDIVPDSTKAYVTVLGDIMGTALQNLDGLVQMPSGCGEQNMVLFAPIIYVLQYLEKAGLLTEEIRSRAVGFLEIGYQKELMYKHSNGSYSAFGERDGNGNTWLTAFVTKCFGQAQKFIFIDPKNIQDALKWMAGNQLPSGCYANVGNLLHTAMKGGVDDEVSLTAYVTAALLEMGKDVDDPMVSQGLRCLKNSATSTTNLYTQALLAYIFSLAGEMDIRNILLKQLDQQAIISGESIYWSQKPTPSSNASPWSEPAAVDVELTAYALLAQLTKPSLTQKEIAKATSIVAWLAKQHNAYGGFSSTQDTVVALQALAKYATTAYMPSEEINLVVKSTENFQRTFNIQSVNRLVFQQDTLPNVPGMYTLEASGQGCVYVQTVLRYNILPPTNMKTFSLSVEIGKARCEQPTSPRSLTLTIHTSYVGSRSSSNMAIVEVKMLSGFSPMEGTNQLLLQQPLVKKVEFGTDTLNIYLDELIKNTQTYTFTISQSVLVTNLKPATIKVYDYYLPDEQATIQYSDPCE", "length": 1454, "header": "sp|A8K2U0-1|A2ML1_HUMAN Isoform 1 of Alpha-2-macroglobulin-like protein 1 OS=Homo sapiens OX=9606 GN=A2ML1 PE=1 SV=3 CANONICAL=A8K2U0-1" }, "isoforms": [ { "isoform_ac": "A8K2U0-1", "url": "", "sequence": { "sequence": "MWAQLLLGMLALSPAIAEELPNYLVTLPARLNFPSVQKVCLDLSPGYSDVKFTVTLETKDKTQKLLEYSGLKKRHLHCISFLVPPPAGGTEEVATIRVSGVGNNISFEEKKKVLIQRQGNGTFVQTDKPLYTPGQQVYFRIVTMDSNFVPVNDKYSMVELQDPNSNRIAQWLEVVPEQGIVDLSFQLAPEAMLGTYTVAVAEGKTFGTFSVEEYVLPKFKVEVVEPKELSTVQESFLVKICCRYTYGKPMLGAVQVSVCQKANTYWYREVEREQLPDKCRNLSGQTDKTGCFSAPVDMATFDLIGYAYSHQINIVATVVEEGTGVEANATQNIYISPQMGSMTFEDTSNFYHPNFPFSGKIRVRGHDDSFLKNHLVFLVIYGTNGTFNQTLVTDNNGLAPFTLETSGWNGTDVSLEGKFQMEDLVYNPEQVPRYYQNAYLHLRPFYSTTRSFLGIHRLNGPLKCGQPQEVLVDYYIDPADASPDQEISFSYYLIGKGSLVMEGQKHLNSKKKGLKASFSLSLTFTSRLAPDPSLVIYAIFPSGGVVADKIQFSVEMCFDNQVSLGFSPSQQLPGAEVELQLQAAPGSLCALRAVDESVLLLRPDRELSNRSVYGMFPFWYGHYPYQVAEYDQCPVSGPWDFPQPLIDPMPQGHSSQRSIIWRPSFSEGTDLFSFFRDVGLKILSNAKIKKPVDCSHRSPEYSTAMGAGGGHPEAFESSTPLHQAEDSQVRQYFPETWLWDLFPIGNSGKEAVHVTVPDAITEWKAMSFCTSQSRGFGLSPTVGLTAFKPFFVDLTLPYSVVRGESFRLTATIFNYLKDCIRVQTDLAKSHEYQLESWADSQTSSCLCADDAKTHHWNITAVKLGHINFTISTKILDSNEPCGGQKGFVPQKGRSDTLIKPVLVKPEGVLVEKTHSSLLCPKGKVASESVSLELPVDIVPDSTKAYVTVLGDIMGTALQNLDGLVQMPSGCGEQNMVLFAPIIYVLQYLEKAGLLTEEIRSRAVGFLEIGYQKELMYKHSNGSYSAFGERDGNGNTWLTAFVTKCFGQAQKFIFIDPKNIQDALKWMAGNQLPSGCYANVGNLLHTAMKGGVDDEVSLTAYVTAALLEMGKDVDDPMVSQGLRCLKNSATSTTNLYTQALLAYIFSLAGEMDIRNILLKQLDQQAIISGESIYWSQKPTPSSNASPWSEPAAVDVELTAYALLAQLTKPSLTQKEIAKATSIVAWLAKQHNAYGGFSSTQDTVVALQALAKYATTAYMPSEEINLVVKSTENFQRTFNIQSVNRLVFQQDTLPNVPGMYTLEASGQGCVYVQTVLRYNILPPTNMKTFSLSVEIGKARCEQPTSPRSLTLTIHTSYVGSRSSSNMAIVEVKMLSGFSPMEGTNQLLLQQPLVKKVEFGTDTLNIYLDELIKNTQTYTFTISQSVLVTNLKPATIKVYDYYLPDEQATIQYSDPCE", "length": 1454, "header": "sp|A8K2U0-1|A2ML1_HUMAN Isoform 1 of Alpha-2-macroglobulin-like protein 1 OS=Homo sapiens OX=9606 GN=A2ML1 PE=1 SV=3 CANONICAL=A8K2U0-1" }, "locus": { "chromosome": "12", "start_pos": 8875008, "end_pos": 8822652, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000299698.12", "url": "https://www.ensembl.org/id/ENST00000299698.12" }, { "database": "Ensembl Peptide", "id": "ENSP00000299698.7", "url": "https://www.ensembl.org/id/ENSP00000299698.7" } ] } }, { "isoform_ac": "A8K2U0-2", "url": "", "sequence": { "sequence": "MLIGKGSLVMEGQKHLNSKKKGLKASFSLSLTFTSRLAPDPSLVIYAIFPSGGVVADKIQFSVEMCFDNQVSLGFSPSQQLPGAEVELQLQAAPGSLCALRAVDESVLLLRPDRELSNRSVYGMFPFWYGHYPYQVAEYDQCPVSGPWDFPQPLIDPMPQGHSSQRSIIWRPSFSEGTDLFSFFRDVGLKILSNAKIKKPVDCSHRSPEYSTAMGAGGGHPEAFESSTPLHQAEDSQVRQYFPETWLWDLFPIGNSGKEAVHVTVPDAITEWKAMSFCTSQSRGFGLSPTVGLTAFKPFFVDLTLPYSVVRGESFRLTATIFNYLKDCIRVQTDLAKSHEYQLESWADSQTSSCLCADDAKTHHWNITAVKLGHINFTISTKILDSNEPCGGQKGFVPQKGRSDTLIKPVLVKPEGVLVEKTHSSLLCPKGKVASESVSLELPVDIVPDSTKAYVTVLGDIMGTALQNLDGLVQMPSGCGEQNMVLFAPIIYVLQYLEKAGLLTEEIRSRAVGFLEIGYQKELMYKHSNGSYSAFGERDGNGNTWLTAFVTKCFGQAQKFIFIDPKNIQDALKWMAGNQLPSGCYANVGNLLHTAMKGGVDDEVSLTAYVTAALLEMGKDVDDPMVSQGLRCLKNSATSTTNLYTQALLAYIFSLAGEMDIRNILLKQLDQQAIISGESIYWSQKPTPSSNASPWSEPAAVDVELTAYALLAQLTKPSLTQKEIAKATSIVAWLAKQHNAYGGFSSTQDTVVALQALAKYATTAYMPSEEINLVVKSTENFQRTFNIQSVNRLVFQQDTLPNVPGMYTLEASGQGCVYVQTVLRYNILPPTNMKTFSLSVEIGKARCEQPTSPRSLTLTIHTSYVGSRSSSNMAIVEVKMLSGFSPMEGTNQLLLQQPLVKKVEFGTDTLNIYLDELIKNTQTYTFTISQSVLVTNLKPATIKVYDYYLPDEQATIQYSDPCE", "length": 963, "header": "sp|A8K2U0-2|A2ML1_HUMAN Isoform 2 of Alpha-2-macroglobulin-like protein 1 OS=Homo sapiens OX=9606 GN=A2ML1 PE=1 SV=3 CANONICAL=A8K2U0-1" }, "locus": { "chromosome": "12", "start_pos": 8875008, "end_pos": 8845172, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000539547.5", "url": "https://www.ensembl.org/id/ENST00000539547.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000438292.1", "url": "https://www.ensembl.org/id/ENSP00000438292.1" } ] } }, { "isoform_ac": "F5GXP1-1", "url": "", "sequence": { "sequence": "MLGELIGKGSLVMEGQKHLNSKKKGLKASFSLSLTFTSRLAPDPSLVIYAIFPSGGVVADKIQFSVEMCFDNQVSLGFSPSQQLPGAEVELQLQAAPGSLCALRAVDESVLLLRPDRELSNRSVYGMFPFWYGHYPYQVAEYDQCPVSGPWDFPQPLIDPMPQGHSSQRSIIWRPSFSEGTDL", "length": 183, "header": "tr|F5GXP1-1|F5GXP1_HUMAN Computationally mapped isoform of Alpha-2-macroglobulin like 1 OS=Homo sapiens OX=9606 GN=A2ML1 PE=1 SV=1 CANONICAL=A8K2U0-1" }, "locus": { "chromosome": "12", "start_pos": 8848899, "end_pos": 8845300, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000545692.1", "url": "https://www.ensembl.org/id/ENST00000545692.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000440057.1", "url": "https://www.ensembl.org/id/ENSP00000440057.1" } ] } }, { "isoform_ac": "F5GYG7-1", "url": "", "sequence": { "sequence": "MVRNNFYAVRLLPSTCVVLSQTSNCRRSHQDPLAASCICQASGCWLIGKGSLVMEGQKHLNSKKKGLKASFSLSLTFTSRL", "length": 81, "header": "tr|F5GYG7-1|F5GYG7_HUMAN Computationally mapped isoform of Alpha-2-macroglobulin like 1 OS=Homo sapiens OX=9606 GN=A2ML1 PE=1 SV=1 CANONICAL=A8K2U0-1" }, "locus": { "chromosome": "12", "start_pos": 8846123, "end_pos": 8845172, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000536789.5", "url": "https://www.ensembl.org/id/ENST00000536789.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000440662.1", "url": "https://www.ensembl.org/id/ENSP00000440662.1" } ] } }, { "isoform_ac": "H0YGG5-1", "url": "", "sequence": { "sequence": "SFLGIHRLNGPLKCGQPQEVLVDYYIDPADASPDQEISFSYYLIGKGSLVMEGQKHLNSKKKGLKASFSLSLTFTSRLAPDPSLVIYAIFPSGGVVADKIQFSVEMCFDNQVSLGFSPSQQLPGAEVELQLQAAPGSLCALRAVDESVLLLRPDRELSNRSVYGMFPFWYGHYPYQVAEYDQCPVSGPWDFPQPLIDPMPQGHSSQRSIIWRPSFSEGTDLFSFFRDVGLKILSNAKIKKPVDCSHRSPEYSTAMGAGGGHPEAFESSTPLHQAEDSQVRQYFPETWLWDLFPIGNSGKEAVHVTVPDAITEWKAMSFCTSQSRGFGLSPTVGLTAFKPFFVDLTLPYSVVRGESFRLTATIFNYLKDCIRVQTDLAKSHEYQLESWADSQTSSCLCADDAKTHHWNITAVKLGHINFTISTKILDSNEPCGGQKGFVPQKGRSDTLIKPVLVKPEGVLVEKTHSSLLCPKGKVASESVSLELPVDIVPDSTKAYVTVLGDIMGTALQNLDGLVQMPSGCGEQNMVLFAPIIYVLQYLEKAGLLTEEIRSRAVGFLEIGYQKELMYKHSNGSYSAFGERDGNGNTWLTAFVTKCFGQAQKFIFIDPKNIQDALKWMAGNQLPSGCYANVGNLLHTAMKGGVDDEVSLTAYVTAALLEMGKDVDDPMVSQGLRCLKNSATSTTNLYTQALLAYIFSLAGEMDIRNILLKQLDQQAIISGESIYWSQKPTPSSNASPWSEPAAVDVELTAYALLAQLTKPSLTQKEIAKATSIVAWLAKQHNAYGGFSSTQDTVVALQALAKYATTAYMPSEEINLVVKSTENFQRTFNIQSVNRLVFQQDTLPNVPGMYTLEASGQGCVYVQTVLRYNILPPTNMKTFSLSVEIGKARCEQPTSPRSLTLTIHTSYVGSRSSSNMAIVEVKMLSGFSPMEGTNQLLLQQPLVKKVEFGTDTLNIYLDELIKNTQTYTFTISQSVLVTNLKPATIKVYDYYLPDEQATIQYSDPCE", "length": 1004, "header": "tr|H0YGG5-1|H0YGG5_HUMAN Computationally mapped isoform of Alpha-2-macroglobulin like 1 OS=Homo sapiens OX=9606 GN=A2ML1 PE=1 SV=1 CANONICAL=A8K2U0-1" }, "locus": { "chromosome": "12", "start_pos": 8875008, "end_pos": 8843236, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000541459.5", "url": "https://www.ensembl.org/id/ENST00000541459.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000443174.1", "url": "https://www.ensembl.org/id/ENSP00000443174.1" } ] } }, { "isoform_ac": "H0YH14-1", "url": "", "sequence": { "sequence": "XRTFNIQSVNRLVFQQDTLPNVPGMYTLEASGQGCVYVQTVLRYNILPPTNMKTFSLSVEIGKARCEQPTSPRSLTLTIHTSYVGSRSSSNMAIVEVKMLSGFSPMEGTNQLLLQQPLVKKVEFGTDTLNIYLDELIKNTQTYTFTISQSVLVTNLKPATIKVYDYYLPDEQATIQYSDPCE", "length": 182, "header": "tr|H0YH14-1|H0YH14_HUMAN Computationally mapped isoform of Alpha-2-macroglobulin like 1 OS=Homo sapiens OX=9606 GN=A2ML1 PE=1 SV=1 CANONICAL=A8K2U0-1" }, "locus": { "chromosome": "12", "start_pos": 8875010, "end_pos": 8867943, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000537475.1", "url": "https://www.ensembl.org/id/ENST00000537475.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000445674.1", "url": "https://www.ensembl.org/id/ENSP00000445674.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G39188ZX", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 1020, "start_aa": "Asn", "end_pos": 1020, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1020", "evidence": [ { "id": "1003", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1003" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", 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"https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G70101JE", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 120, "start_aa": "Asn", "end_pos": 120, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn120", "evidence": [ { "id": "1003", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1003" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 120, "start_aa": "Asn", "end_pos": 120, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn120", "evidence": [ { "id": "A8K2U0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A8K2U0#ptm_processing" }, { "id": "23090970", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23090970" }, { "id": "GLY_000143", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000143" }, { "id": "24190977", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24190977" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 281, "start_aa": "Asn", "end_pos": 281, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn281", "evidence": [ { "id": "A8K2U0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A8K2U0#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 409, "start_aa": "Asn", "end_pos": 409, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn409", "evidence": [ { "id": "A8K2U0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A8K2U0#ptm_processing" } ] }, { "glytoucan_ac": "G39188ZX", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 857, "start_aa": "Asn", "end_pos": 857, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn857", "evidence": [ { "id": "1003", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1003" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 857, "start_aa": "Asn", "end_pos": 857, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn857", "evidence": [ { "id": "A8K2U0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A8K2U0#ptm_processing" }, { "id": "23090970", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23090970" }, { "id": "GLY_000143", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000143" }, { "id": "24190977", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24190977" } ] }, { "glytoucan_ac": "G39188ZX", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 867, "start_aa": "Asn", "end_pos": 867, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn867", "evidence": [ { "id": "1003", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1003" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 867, "start_aa": "Asn", "end_pos": 867, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn867", "evidence": [ { "id": "23090970", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23090970" }, { "id": "GLY_000143", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000143" }, { "id": "24190977", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24190977" } ] } ], "phosphorylation": [], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported", "glycoprotein_predicted", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "A novel protease inhibitor of the alpha2-macroglobulin family expressed in the human epidermis.", "journal": "The Journal of biological chemistry", "date": "2006", "authors": "Galliano MF, Toulza E, Gallinaro H, Jonca N, Ishida-Yamamoto A, Serre G, Guerrin M", "evidence": [ { "database": "UniProtKB", "id": "A8K2U0", "url": "https://www.uniprot.org/uniprot/A8K2U0" }, { "database": "RefSeq", "id": "NP_001269353", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269353" } ], "reference": [ { "type": "PubMed", "id": "16298998", "url": "https://glygen.org/publication/PubMed/16298998" } ] }, { "title": "Binding of alpha2ML1 to the low density lipoprotein receptor-related protein 1 (LRP1) reveals a new role for LRP1 in the human epidermis.", "journal": "PloS one", "date": "2008", "authors": "Galliano MF, Toulza E, Jonca N, Gonias SL, Serre G, Guerrin M", "evidence": [ { "database": "RefSeq", "id": "NP_001269353", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269353" } ], "reference": [ { "type": "PubMed", "id": "18648652", "url": "https://glygen.org/publication/PubMed/18648652" } ] }, { "title": "The protease inhibitor alpha-2-macroglobulin-like-1 is the p170 antigen recognized by paraneoplastic pemphigus autoantibodies in human.", "journal": "PloS one", "date": "2010", "authors": "Schepens I, Jaunin F, Begre N, Laderach U, Marcus K, Hashimoto T, Favre B, Borradori L", "evidence": [ { "database": "RefSeq", "id": "NP_001269353", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269353" } ], "reference": [ { "type": "PubMed", "id": "20805888", "url": "https://glygen.org/publication/PubMed/20805888" } ] }, { "title": "Quantification of the N-glycosylated secretome by super-SILAC during breast cancer progression and in human blood samples.", "journal": "Molecular & cellular proteomics : MCP", "date": "2013", "authors": "Boersema PJ, Geiger T, Wisniewski JR, Mann M", "evidence": [ { "database": "GlyGen", "id": "GLY_000143", "url": "https://data.glygen.org/GLY_000143" } ], "reference": [ { "type": "PubMed", "id": "23090970", "url": "https://glygen.org/publication/PubMed/23090970" } ] }, { "title": "N-linked glycosylation enrichment for in-depth cell surface proteomics of diffuse large B-cell lymphoma subtypes.", "journal": "Molecular & cellular proteomics : MCP", "date": "2014", "authors": "Deeb SJ, Cox J, Schmidt-Supprian M, Mann M", "evidence": [ { "database": "GlyGen", "id": "GLY_000143", "url": "https://data.glygen.org/GLY_000143" } ], "reference": [ { "type": "PubMed", "id": "24190977", "url": "https://glygen.org/publication/PubMed/24190977" } ] }, { "title": "Heterozygous germline mutations in A2ML1 are associated with a disorder clinically related to Noonan syndrome.", "journal": "European journal of human genetics : EJHG", "date": "2015", "authors": "Vissers LE, Bonetti M, Paardekooper Overman J, Nillesen WM, Frints SG, de Ligt J, Zampino G, Justino A, Machado JC, Schepens M, Brunner HG, Veltman JA, Scheffer H, Gros P, Costa JL, Tartaglia M, van der Burgt I, Yntema HG, den Hertog J", "evidence": [ { "database": "RefSeq", "id": "NP_001269353", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269353" } ], "reference": [ { "type": "PubMed", "id": "24939586", "url": "https://glygen.org/publication/PubMed/24939586" } ] }, { "title": "Rare A2ML1 variants confer susceptibility to otitis media.", "journal": "Nature genetics", "date": "2015", "authors": "Santos-Cortez RL, Chiong CM, Reyes-Quintos MR, Tantoco ML, Wang X, Acharya A, Abbe I, Giese AP, Smith JD, Allen EK, Li B, Cutiongco-de la Paz EM, Garcia MC, Llanes EG, Labra PJ, Gloria-Cruz TL, Chan AL, Wang GT, Daly KA, Shendure J, Bamshad MJ, Nickerson DA, Patel JA, Riazuddin S, Sale MM, Chonmaitree T, Ahmed ZM, Abes GT, Leal SM", "evidence": [ { "database": "UniProtKB", "id": "A8K2U0", "url": "https://www.uniprot.org/uniprot/A8K2U0" }, { "database": "RefSeq", "id": "NP_001269353", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269353" } ], "reference": [ { "type": "PubMed", "id": "26121085", "url": "https://glygen.org/publication/PubMed/26121085" } ] }, { "title": "Reanalysis of Global Proteomic and Phosphoproteomic Data Identified a Large Number of Glycopeptides.", "journal": "Analytical chemistry", "date": "2018", "authors": "Hu Y, Shah P, Clark DJ, Ao M, Zhang H", "evidence": [ { "database": "GlyConnect", "id": "1003", "url": "https://glyconnect.expasy.org/browser/proteins/1003" } ], "reference": [ { "type": "PubMed", "id": "29741879", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "title": "Cryo-EM structures of human A2ML1 elucidate the protease-inhibitory mechanism of the A2M family.", "journal": "Nature communications", "date": "2022", "authors": "Nielsen NS, Zarantonello A, Harwood SL, Jensen KT, Kjoge K, Thogersen IB, Schauser L, Karlsen JL, Andersen GR, Enghild JJ", "evidence": [ { "database": "RefSeq", "id": "NP_001269353", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269353" } ], "reference": [ { "type": "PubMed", "id": "35641520", "url": "https://glygen.org/publication/PubMed/35641520" } ] }, { "title": "Audiologic Measures in an Indigenous Community with A2ML1- and FUT2-Related Otitis Media.", "journal": "Genetic testing and molecular biomarkers", "date": "2023-01", "authors": "Santos-Cortez Regie Lyn P, Ong Kimberly Mae C, Carlos-Hiceta Angeli, Tantoco Ma Leah C, Yarza Talitha Karisse L, San Agustin Ma Luz, Pedro Melquiadesa, Cruz Teresa Luisa G, Cutiongco-de la Paz Eva Maria, Abes Generoso T, Llanes Erasmo Gonzalo D V, Chan Abner L, Chiong Charlotte M, Reyes-Quintos Maria Rina T", "evidence": [ { "database": "RefSeq", "id": "NP_001269353", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269353" } ], "reference": [ { "type": "PubMed", "id": "36719978", "url": "https://glygen.org/publication/PubMed/36719978" } ] }, { "title": "A2ML1 Inhibits Esophageal Squamous Cell Carcinoma Progression and Serves as a Novel Prognostic Biomarker.", "journal": "Canadian journal of gastroenterology & hepatology", "date": "2023", "authors": "Zhang Xiaoyun, Tang Chaogui, Lian Jianchun, Jiang Yuzhang", "evidence": [ { "database": "RefSeq", "id": "NP_001269353", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269353" } ], "reference": [ { "type": "PubMed", "id": "37954860", "url": "https://glygen.org/publication/PubMed/37954860" } ] } ], "pathway": [ { "id": 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