{ "uniprot_canonical_ac": "Q9UEW3-1", "uniprot_ac": "Q9UEW3", "uniprot_id": "MARCO_HUMAN", "mass": { "chemical_mass": 52658.0, "monoisotopic_mass": 52658.0 }, "refseq": { "ac": "NP_006761", "name": "macrophage receptor MARCO", "summary": "The protein encoded by this gene is a member of the class A scavenger receptor family and is part of the innate antimicrobial immune system. The protein may bind both Gram-negative and Gram-positive bacteria via an extracellular, C-terminal, scavenger receptor cysteine-rich (SRCR) domain. In addition to short cytoplasmic and transmembrane domains, there is an extracellular spacer domain and a long, extracellular collagenous domain. The protein may form a trimeric molecule by the association of the collagenous domains of three identical polypeptide chains. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006761" }, "gene_names": [ { "name": "MARCO", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/Q9UEW3", "id": "Q9UEW3" }, { "name": "MARCO", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006761", "id": "NP_006761" }, { "name": "SCARA2; SR-A6", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006761", "id": "NP_006761" }, { "name": "SCARA2", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q9UEW3", "id": "Q9UEW3" } ], "protein_names": [ { "name": "Macrophage receptor MARCO", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "Q9UEW3" }, { "name": "Macrophage receptor with collagenous structure", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q9UEW3" }, { "name": "Scavenger receptor class A member 2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q9UEW3" }, { "name": "macrophage receptor MARCO", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006761", "id": "NP_006761" }, { "name": "scavenger receptor class A, member 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006761", "id": "NP_006761" } ], "function": [ { "annotation": "Association of the MARCO polymorphism rs6761637 with hepatocellular carcinoma susceptibility and clinical characteristics.", "evidence": [ { "database": "RefSeq", "id": "NP_006761", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006761" }, { "database": "PubMed", "id": "35364781", "url": "https://glygen.org/publication/PubMed/35364781" } ] }, { "annotation": "Cancer Cells Promote Immune Regulatory Function of Macrophages by Upregulating Scavenger Receptor MARCO Expression.", "evidence": [ { "database": "RefSeq", "id": "NP_006761", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006761" }, { "database": "PubMed", "id": "37212598", "url": "https://glygen.org/publication/PubMed/37212598" } ] }, { "annotation": "Pattern recognition receptor (PRR) which binds Gram-positive and Gram-negative bacteria (PubMed:9468508). Also plays a role in binding of unopsonized particles by alveolar macrophages (By similarity). Binds to the secretoglobin SCGB3A2 (PubMed:12847263).", "evidence": [ { "database": "UniProtKB", "id": "Q9UEW3", "url": "https://www.uniprot.org/uniprot/Q9UEW3#function" }, { "database": "PubMed", "id": "9468508", "url": "https://glygen.org/publication/PubMed/9468508" }, { "database": "UniProtKB", "id": "Q9WUB9", "url": "https://www.uniprot.org/uniprot/Q9WUB9#function" }, { "database": "PubMed", "id": "12847263", "url": "https://glygen.org/publication/PubMed/12847263" } ] }, { "annotation": "Scavenger receptor MARCO contributes to macrophage phagocytosis and clearance of tumor cells.", "evidence": [ { "database": "RefSeq", "id": "NP_006761", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006761" }, { "database": "PubMed", "id": "34626585", "url": "https://glygen.org/publication/PubMed/34626585" } ] }, { "annotation": "Single-cell characterization of macrophages in glioblastoma reveals MARCO as a mesenchymal pro-tumor marker. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_006761", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006761" }, { "database": "PubMed", "id": "34011400", "url": "https://glygen.org/publication/PubMed/34011400" } ] }, { "annotation": "TLR2 Potentiates SR-Marco-Mediated Neuroinflammation by Interacting with the SRCR Domain.", "evidence": [ { "database": "RefSeq", "id": "NP_006761", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006761" }, { "database": "PubMed", "id": "34398403", "url": "https://glygen.org/publication/PubMed/34398403" } ] }, { "annotation": "The protein encoded by this gene is a member of the class A scavenger receptor family and is part of the innate antimicrobial immune system. The protein may bind both Gram-negative and Gram-positive bacteria via an extracellular, C-terminal, scavenger receptor cysteine-rich (SRCR) domain. In addition to short cytoplasmic and transmembrane domains, there is an extracellular spacer domain and a long, extracellular collagenous domain. The protein may form a trimeric molecule by the association of the collagenous domains of three identical polypeptide chains. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_006761", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006761" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "rs771638950", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771638950" }, { "id": "rs771638950", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771638950" }, { "id": "rs771638950", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs771638950" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 136, "end_pos": 136, "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NFT->DFT).", "chr_id": "2", "chr_pos": "118970320", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N136", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1404103661", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1404103661" }, { "id": "rs1404103661", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1404103661" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 138, "end_pos": 138, "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NFT->NFA).", "chr_id": "2", "chr_pos": "118970326", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T138", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1470942932", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1470942932" }, { "id": "rs1470942932", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1470942932#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 138, "end_pos": 138, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NFT->NFI).", "chr_id": "2", "chr_pos": "118970327", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T138", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs987769173", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs987769173" }, { "id": "rs987769173", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs987769173#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 14, "end_pos": 14, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SET->NET).", "chr_id": "2", "chr_pos": "118942341", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S14", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "Q9UEW3", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/Q9UEW3" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 192, "end_pos": 192, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "L", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "2", "chr_pos": "118974527", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S192", "disease": [ { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "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" } ] }, { "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": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "Q9UEW3", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/Q9UEW3" } ], "glycoeffect": [], "start_pos": 30, "end_pos": 30, "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": "2", "chr_pos": "118942388", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "E30", "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:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": 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"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": 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"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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"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": "Yes", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "Q9UEW3", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q9UEW3" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q9UEW3" } ], "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": "down", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ 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"database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR24023", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR24023", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR24023:SF1083", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR24023:SF1083", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF00530", "url": "http://pfam.xfam.org/family/PF00530", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF01391", "url": "http://pfam.xfam.org/family/PF01391", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "Q9UEW3", "url": "https://pharos.nih.gov/targets/Q9UEW3", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_Q9UEW3", "url": "http://purl.obolibrary.org/obo/PR_Q9UEW3", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-3000480", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000480", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_006761", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006761", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "C9JKT8", "url": "https://www.uniprot.org/uniprot/C9JKT8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9JKT8-1", "url": "https://www.uniprot.org/uniprot/C9JKT8-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q9UEW3", "url": "https://www.uniprot.org/uniprot/Q9UEW3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q9UEW3-1", "url": "https://www.uniprot.org/uniprot/Q9UEW3-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q9UEW3-2", "url": "https://www.uniprot.org/uniprot/Q9UEW3-2", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MRNKKILKEDELLSETQQAAFHQIAMEPFEINVPKPKRRNGVNFSLAVVVIYLILLTAGAGLLVVQVLNLQARLRVLEMYFLNDTLAAEDSPSFSLLQSAHPGEHLAQGASRLQVLQAQLTWVRVSHEHLLQRVDNFTQNPGMFRIKGEQGAPGLQGHKGAMGMPGAPGPPGPPAEKGAKGAMGRDGATGPSGPQGPPGVKGEAGLQGPQGAPGKQGATGTPGPQGEKGSKGDGGLIGPKGETGTKGEKGDLGLPGSKGDRGMKGDAGVMGPPGAQGSKGDFGRPGPPGLAGFPGAKGDQGQPGLQGVPGPPGAVGHPGAKGEPGSAGSPGRAGLPGSPGSPGATGLKGSKGDTGLQGQQGRKGESGVPGPAGVKGEQGSPGLAGPKGAPGQAGQKGDQGVKGSSGEQGVKGEKGERGENSVSVRIVGSSNRGRAEVYYSGTWGTICDDEWQNSDAIVFCRMLGYSKGRALYKVGAGTGQIWLDNVQCRGTESTLWSCTKNSWGHHDCSHEEDAGVECSV", "length": 520, "header": "sp|Q9UEW3-1|MARCO_HUMAN Isoform 1 of Macrophage receptor MARCO OS=Homo sapiens OX=9606 GN=MARCO PE=1 SV=1 CANONICAL=Q9UEW3-1" }, "isoforms": [ { "isoform_ac": "C9JKT8-1", "url": "", "sequence": { "sequence": "MYFLNDTLAAEDSPSFSLLQSAHPGEHLAQGASRLQVLQAQLTWVRVSHEHLLQRVDNFTQNP", "length": 63, "header": "tr|C9JKT8-1|MARCO_HUMAN Computationally mapped isoform of Macrophage receptor MARCO OS=Homo sapiens OX=9606 GN=MARCO PE=1 SV=8 CANONICAL=Q9UEW3-1" }, 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Macrophage receptor MARCO OS=Homo sapiens OX=9606 GN=MARCO PE=1 SV=1 CANONICAL=Q9UEW3-1" }, "locus": { "chromosome": "2", "start_pos": 118994517, "end_pos": 118942301, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000327097.5", "url": "https://www.ensembl.org/id/ENST00000327097.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000318916.4", "url": "https://www.ensembl.org/id/ENSP00000318916.4" } ] } }, { "isoform_ac": "Q9UEW3-2", "url": "", "sequence": { "sequence": "MYFLNDTLAAEDSPSFSLLQSAHPGEHLAQGASRLQVLQAQLTWVRVSHEHLLQRVDNFTQNPGMFRIKGEQGAPGLQGHKGAMGMPGAPGPPGPPAEKGAKGAMGRDGATGPSGPQGPPGVKGEAGLQGPQGAPGKQGATGTPGPQGEKGSKGDGGLIGPKGETGTKGEKGDLGLPGSKGDRGMKGDAGVMGPPGAQGSKGDFGRPGPPGLAGFPGAKGDQGQPGLQGVPGPPGAVGHPGAKGEPGSAGSPGRAGLPGSPGSPGATGLKGSKGDTGLQGQQGRKGESGVPGPAGVKGEQGSPGLAGPKGAPGQAGQKGDQGVKGSSGEQGVKGEKGERGENSVSVRIVGSSNRGRAEVYYSGTWGTICDDEWQNSDAIVFCRMLGYSKGRALYKVGAGTGQIWLDNVQCRGTESTLWSCTKNSWGHHDCSHEEDAGVECSV", "length": 442, "header": "sp|Q9UEW3-2|MARCO_HUMAN Isoform 2 of Macrophage receptor MARCO OS=Homo sapiens OX=9606 GN=MARCO PE=1 SV=1 CANONICAL=Q9UEW3-1" }, "locus": {} } ], "glycosylation": [ { "glytoucan_ac": "G10019LZ", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 136, "start_aa": "Asn", "end_pos": 136, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn136", "evidence": [ { "id": "1957", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1957" }, { "id": "29391424", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29391424" } ] }, { "glytoucan_ac": "G22310AV", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 136, "start_aa": "Asn", "end_pos": 136, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn136", "evidence": [ { "id": "1957", "database": "GlyConnect", "url": 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Chem.", "date": "1998", "authors": "Elomaa O, Sankala M, Pikkarainen T, Bergmann U, Tuuttila A, Raatikainen-Ahokas A, Sariola H, Tryggvason K", "evidence": [ { "database": "UniProtKB", "id": "Q9UEW3", "url": "https://www.uniprot.org/uniprot/Q9UEW3" }, { "database": "Reactome", "id": "R-HSA-3000480", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000480" } ], "reference": [ { "type": "PubMed", "id": "9468508", "url": "https://glygen.org/publication/PubMed/9468508" } ] }, { "title": "Scavenger receptors mediate adhesion of activated B lymphocytes.", "journal": "Experimental cell research", "date": "1998", "authors": "Yokota T, Ehlin-Henriksson B, Hansson GK", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000480", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000480" } ], "reference": [ { "type": "PubMed", "id": "9511720", "url": "https://glygen.org/publication/PubMed/9511720" } ] }, { "title": "A naturally occurring isoform of the human macrophage scavenger 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