{ "uniprot_canonical_ac": "P13500-1", "uniprot_ac": "P13500", "uniprot_id": "CCL2_HUMAN", "mass": { "chemical_mass": 11025.0, "monoisotopic_mass": 11025.0 }, "refseq": { "ac": "NP_002973", "name": "C-C motif chemokine 2 precursor", "summary": "This gene is one of several cytokine genes clustered on the q-arm of chromosome 17. Chemokines are a superfamily of secreted proteins involved in immunoregulatory and inflammatory processes. The superfamily is divided into four subfamilies based on the arrangement of N-terminal cysteine residues of the mature peptide. This chemokine is a member of the CC subfamily which is characterized by two adjacent cysteine residues. This cytokine displays chemotactic activity for monocytes and basophils but not for neutrophils or eosinophils. It has been implicated in the pathogenesis of diseases characterized by monocytic infiltrates, like psoriasis, rheumatoid arthritis and atherosclerosis. It binds to chemokine receptors CCR2 and CCR4. Elevated expression of the encoded protein is associated with severe acute respiratory syndrome coronavirus 2 (SARS‐CoV‐2) infection. [provided by RefSeq, Aug 2020].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002973" }, "gene_names": [ { "name": "CCL2", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P13500", "id": "P13500" }, { "name": "CCL2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002973", "id": "NP_002973" }, { "name": "GDCF-2; HC11; HSMCR30; MCAF; MCP-1; MCP1; SCYA2; SMC-CF", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002973", "id": "NP_002973" }, { "name": "MCP1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P13500", "id": "P13500" }, { "name": "SCYA2", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P13500", "id": "P13500" }, { "name": "hCG_29298", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P13500", "id": "P13500" } ], "protein_names": [ { "name": "C-C motif chemokine 2", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P13500" }, { "name": "C-C motif chemokine 2 precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002973", "id": "NP_002973" }, { "name": "HC11", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P13500" }, { "name": "MCAF", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P13500" }, { "name": "MCP-1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P13500" }, { "name": "Monocyte chemoattractant protein 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P13500" }, { "name": "Monocyte chemotactic and activating factor", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P13500" }, { "name": "Monocyte chemotactic protein 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P13500" }, { "name": "Monocyte secretory protein JE", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P13500" }, { "name": "Small-inducible cytokine A2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P13500" }, { "name": "small inducible cytokine A2 (monocyte chemotactic protein 1, homologous to mouse Sig-je); monocyte chemoattractant protein-1; monocyte chemotactic and activating factor; monocyte secretory protein JE; chemokine (C-C motif) ligand 2; small inducible cytokine subfamily A (Cys-Cys), member 2; C-C motif chemokine 2; small-inducible cytokine A2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002973", "id": "NP_002973" } ], "function": [ { "annotation": "Acts as a ligand for C-C chemokine receptor CCR2 (PubMed:9837883, PubMed:10587439, PubMed:10529171). Signals through binding and activation of CCR2 and induces a strong chemotactic response and mobilization of intracellular calcium ions (PubMed:9837883, PubMed:10587439). Exhibits a chemotactic activity for monocytes and basophils but not neutrophils or eosinophils (PubMed:8627182, PubMed:9792674, PubMed:8195247). May be involved in the recruitment of monocytes into the arterial wall during the disease process of atherosclerosis (PubMed:8107690).", "evidence": [ { "database": "UniProtKB", "id": "P13500", "url": "https://www.uniprot.org/uniprot/P13500#function" }, { "database": "PubMed", "id": "10587439", "url": "https://glygen.org/publication/PubMed/10587439" }, { "database": "PubMed", "id": "9792674", "url": "https://glygen.org/publication/PubMed/9792674" }, { "database": "PubMed", "id": "9837883", "url": "https://glygen.org/publication/PubMed/9837883" }, { "database": "PubMed", "id": "8627182", "url": "https://glygen.org/publication/PubMed/8627182" }, { "database": "PubMed", "id": "10529171", "url": "https://glygen.org/publication/PubMed/10529171" }, { "database": "PubMed", "id": "8195247", "url": "https://glygen.org/publication/PubMed/8195247" }, { "database": "PubMed", "id": "8107690", "url": "https://glygen.org/publication/PubMed/8107690" } ] }, { "annotation": "Association Between Plasma Levels of Monocyte Chemoattractant Protein-1 (MCP-1) and 28-Day Mortality in Elderly Patients with Sepsis: A Retrospective Single-Center Study. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_002973", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002973" }, { "database": "PubMed", "id": "38169464", "url": "https://glygen.org/publication/PubMed/38169464" } ] }, { "annotation": "Association between the MCP-1 -2518 A > G (rs1024611) polymorphism and susceptibility to type 2 diabetes mellitus and diabetic nephropathy: a meta-analysis. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_002973", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002973" }, { "database": "PubMed", "id": "38049786", "url": "https://glygen.org/publication/PubMed/38049786" } ] }, { "annotation": "CCL2/CCR2 signaling in cancer pathogenesis. Review article Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_002973", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002973" }, { "database": "PubMed", "id": "32471499", "url": "https://glygen.org/publication/PubMed/32471499" } ] }, { "annotation": "Studies indicate manipulating CCL2-CCR2 interaction as a potential approach for combating metastatic disease. Review article", "evidence": [ { "database": "RefSeq", "id": "NP_002973", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002973" }, { "database": "PubMed", "id": "26885690", "url": "https://glygen.org/publication/PubMed/26885690" } ] }, { "annotation": "This gene is one of several cytokine genes clustered on the q-arm of chromosome 17. Chemokines are a superfamily of secreted proteins involved in immunoregulatory and inflammatory processes. The superfamily is divided into four subfamilies based on the arrangement of N-terminal cysteine residues of the mature peptide. This chemokine is a member of the CC subfamily which is characterized by two adjacent cysteine residues. This cytokine displays chemotactic activity for monocytes and basophils but not for neutrophils or eosinophils. It has been implicated in the pathogenesis of diseases characterized by monocytic infiltrates, like psoriasis, rheumatoid arthritis and atherosclerosis. It binds to chemokine receptors CCR2 and CCR4. Elevated expression of the encoded protein is associated with severe acute respiratory syndrome coronavirus 2 (SARS‐CoV‐2) infection. [provided by RefSeq, Aug 2020].", "evidence": [ { "database": "RefSeq", "id": "NP_002973", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002973" } ] } ], "disease": [ { "disease_id": "MONDO:0011940", "recommended_name": { "id": "MONDO:0011940", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011940", "name": "mycobacterium tuberculosis, susceptibility to", "description": "" }, "synonyms": [ { "id": "MONDO:0011940", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011940", "name": "tuberculosis, susceptibility to", "description": "" }, { "id": "MONDO:0011940", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011940", "name": "mycobacterium tuberculosis, susceptibility to", "description": "" }, { "id": "MONDO:0011940", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011940", "name": "tuberculosis infection, protection against", "description": "" }, { "id": "MONDO:0011940", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011940", "name": "tuberculosis, protection against", "description": "" }, { "id": "MONDO:0011940", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011940", "name": "Mycobacterium tuberculosis, protection against", "description": "" }, { "id": "MONDO:0011940", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011940", "name": "Mycobacterium tuberculosis, susceptibility to infection by", "description": "" } ], "evidence": [ { "id": "607948", "database": "MIM", "url": "https://www.omim.org/entry/607948" } ] } ], "snv": [ { "evidence": [ { "id": "rs1305394397", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1305394397" }, { "id": "rs1305394397", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1305394397#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 37, "end_pos": 37, "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NFT->DFT).", "chr_id": "17", "chr_pos": "34256254", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N37", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs780351792", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780351792" }, { "id": "rs780351792", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780351792" }, { "id": "rs780351792", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs780351792#frequency_tab" }, { "id": "rs780351792", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs780351792" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 39, "end_pos": 39, "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NFT->NFA).", "chr_id": "17", "chr_pos": "34256260", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T39", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P13500", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P13500" }, { "id": "rs1365264424", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1365264424" }, { "id": "rs1365264424", "database": "NCI-TCGA", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1365264424" }, { "id": "rs1365264424", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1365264424#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 39, "end_pos": 39, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "T", "sequence_mut": "I", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-loss (NFT->NFI).", "chr_id": "17", "chr_pos": "34256261", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "T39", "disease": [ { "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", "ebi", "germline" ] } ], "mutagenesis": [ { "start_pos": 24, "end_pos": 24, "sequence_org": "Q", "sequence_mut": "", "comment": "Loss of activity.", "evidence": [ { "database": "UniProtKB", "id": "P13500", "url": "https://www.uniprot.org/uniprot/P13500" } ] }, { "start_pos": 24, "end_pos": 85, "sequence_org": "QPDAINAPVTCCYNFTNRKISVQRLASYRRITSSKCPKEAVIFKTIVAKEICADPKQKWVQD", "sequence_mut": "", "comment": "90% reduction in activity.", "evidence": [ { "database": "UniProtKB", "id": "P13500", "url": "https://www.uniprot.org/uniprot/P13500" } ] }, { "start_pos": 24, "end_pos": 91, "sequence_org": "QPDAINAPVTCCYNFTNRKISVQRLASYRRITSSKCPKEAVIFKTIVAKEICADPKQKWVQDSMDHLD", "sequence_mut": "", "comment": "83% reduction in activity.", "evidence": [ { "database": "UniProtKB", "id": "P13500", "url": "https://www.uniprot.org/uniprot/P13500" } ] }, { "start_pos": 25, "end_pos": 31, "sequence_org": "PDAINAP", "sequence_mut": "", "comment": "Loss of signaling.", "evidence": [ { "database": "UniProtKB", "id": "P13500", "url": "https://www.uniprot.org/uniprot/P13500" }, { "database": "PubMed", "id": "10587439", "url": "https://glygen.org/publication/PubMed/10587439" } ] }, { "start_pos": 26, "end_pos": 26, "sequence_org": "D", "sequence_mut": "A", "comment": "Reduction in activity.", "evidence": [ { "database": "UniProtKB", "id": "P13500", "url": "https://www.uniprot.org/uniprot/P13500" }, { "database": "PubMed", "id": "10587439", "url": "https://glygen.org/publication/PubMed/10587439" } ] }, { "start_pos": 28, "end_pos": 28, "sequence_org": "I", "sequence_mut": "A", "comment": "Slight reduction in activity.", "evidence": [ { "database": "UniProtKB", "id": "P13500", "url": "https://www.uniprot.org/uniprot/P13500" }, { "database": "PubMed", "id": "10587439", "url": "https://glygen.org/publication/PubMed/10587439" } ] }, { "start_pos": 29, "end_pos": 29, "sequence_org": "N", "sequence_mut": "A", "comment": "50% reduction in activity.", "evidence": [ { "database": "UniProtKB", "id": "P13500", "url": "https://www.uniprot.org/uniprot/P13500" }, { "database": "PubMed", "id": "10587439", "url": "https://glygen.org/publication/PubMed/10587439" } ] }, { "start_pos": 31, "end_pos": 31, "sequence_org": "P", "sequence_mut": "A", "comment": "Loss of dimerization; slight reduction of activity.", "evidence": [ { "database": "UniProtKB", "id": "P13500", "url": "https://www.uniprot.org/uniprot/P13500" }, { "database": "PubMed", "id": "10587439", "url": "https://glygen.org/publication/PubMed/10587439" }, { "database": "PubMed", "id": "9837883", "url": "https://glygen.org/publication/PubMed/9837883" } ] }, { "start_pos": 32, "end_pos": 32, "sequence_org": "V", "sequence_mut": "A", "comment": "Slight reduction in activity.", "evidence": [ { "database": "UniProtKB", "id": "P13500", "url": "https://www.uniprot.org/uniprot/P13500" }, { "database": "PubMed", "id": "10587439", "url": "https://glygen.org/publication/PubMed/10587439" }, { "database": "PubMed", "id": "9837883", "url": "https://glygen.org/publication/PubMed/9837883" } ] }, { "start_pos": 32, "end_pos": 32, "sequence_org": "V", "sequence_mut": "E", "comment": "Slight reduction in affinity.", "evidence": [ { "database": "UniProtKB", "id": "P13500", "url": "https://www.uniprot.org/uniprot/P13500" }, { "database": "PubMed", "id": "10587439", "url": "https://glygen.org/publication/PubMed/10587439" }, { "database": "PubMed", "id": "9837883", "url": "https://glygen.org/publication/PubMed/9837883" } ] }, { "start_pos": 33, "end_pos": 33, "sequence_org": "T", "sequence_mut": "A", "comment": "Slight reduction in activity.", "evidence": [ { "database": "UniProtKB", "id": "P13500", "url": "https://www.uniprot.org/uniprot/P13500" }, { "database": "PubMed", "id": "10587439", "url": "https://glygen.org/publication/PubMed/10587439" }, { "database": "PubMed", "id": "9837883", "url": "https://glygen.org/publication/PubMed/9837883" } ] }, { "start_pos": 33, "end_pos": 33, "sequence_org": "T", "sequence_mut": "E", "comment": "Slight reduction in affinity.", "evidence": [ { "database": "UniProtKB", "id": "P13500", "url": "https://www.uniprot.org/uniprot/P13500" }, { "database": "PubMed", "id": "10587439", "url": "https://glygen.org/publication/PubMed/10587439" }, { "database": "PubMed", "id": "9837883", "url": "https://glygen.org/publication/PubMed/9837883" } ] }, { "start_pos": 36, "end_pos": 36, "sequence_org": "Y", "sequence_mut": "A", "comment": "Loss of activity.", "evidence": [ { "database": "UniProtKB", "id": "P13500", "url": "https://www.uniprot.org/uniprot/P13500" }, { "database": "PubMed", "id": "9837883", "url": "https://glygen.org/publication/PubMed/9837883" } ] }, { "start_pos": 41, "end_pos": 42, "sequence_org": "RK", "sequence_mut": "AA", "comment": "Abolishes binding to Link domain of TNFAIP6.", "evidence": [ { "database": "UniProtKB", "id": "P13500", "url": "https://www.uniprot.org/uniprot/P13500" }, { "database": "PubMed", "id": "27044744", "url": "https://glygen.org/publication/PubMed/27044744" } ] }, { "start_pos": 47, "end_pos": 47, "sequence_org": "R", "sequence_mut": "F", "comment": "95% reduction in activity; strong reduction of receptor binding.", "evidence": [ { "database": "UniProtKB", "id": "P13500", "url": "https://www.uniprot.org/uniprot/P13500" } ] }, { "start_pos": 50, "end_pos": 50, "sequence_org": "S", "sequence_mut": "Q", "comment": "40% reduction in activity.", "evidence": [ { "database": "UniProtKB", "id": "P13500", "url": "https://www.uniprot.org/uniprot/P13500" } ] }, { "start_pos": 51, "end_pos": 51, "sequence_org": "Y", "sequence_mut": "D", "comment": "Loss of activity.", "evidence": [ { "database": "UniProtKB", "id": "P13500", "url": "https://www.uniprot.org/uniprot/P13500" } ] }, { "start_pos": 53, "end_pos": 53, "sequence_org": "R", "sequence_mut": "L", "comment": "Loss of activity.", "evidence": [ { "database": "UniProtKB", "id": "P13500", "url": "https://www.uniprot.org/uniprot/P13500" } ] }, { "start_pos": 79, "end_pos": 79, "sequence_org": "K", "sequence_mut": "A", "comment": "No effect on heparin binding.", "evidence": [ { "database": "UniProtKB", "id": "P13500", "url": "https://www.uniprot.org/uniprot/P13500" } ] }, { "start_pos": 81, "end_pos": 81, "sequence_org": "K", "sequence_mut": "A", "comment": "Strongly reduces heparin binding.", "evidence": [ { "database": "UniProtKB", "id": "P13500", "url": "https://www.uniprot.org/uniprot/P13500" }, { "database": "PubMed", "id": "9792674", "url": "https://glygen.org/publication/PubMed/9792674" } ] }, { "start_pos": 89, "end_pos": 89, "sequence_org": "H", "sequence_mut": "A", "comment": "Strongly reduces heparin binding.", "evidence": [ { "database": "UniProtKB", "id": "P13500", "url": "https://www.uniprot.org/uniprot/P13500" }, { "database": "PubMed", "id": "9792674", "url": "https://glygen.org/publication/PubMed/9792674" } ] }, { "start_pos": 91, "end_pos": 91, "sequence_org": "D", "sequence_mut": "L", "comment": "90% reduction in activity.", "evidence": [ { "database": "UniProtKB", "id": "P13500", "url": "https://www.uniprot.org/uniprot/P13500" } ] }, { "start_pos": 95, "end_pos": 99, "sequence_org": "QTPKT", "sequence_mut": "", "comment": "No effect on heparin binding.", "evidence": [ { "database": "UniProtKB", "id": "P13500", "url": "https://www.uniprot.org/uniprot/P13500" }, { "database": "PubMed", "id": "9792674", "url": "https://glygen.org/publication/PubMed/9792674" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "88.42", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000108691", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000108691" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "75.7", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000108691", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000108691" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "92.06", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000108691", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000108691" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "87.19", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000108691", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000108691" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "85.32", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000108691", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000108691" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "98.24", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000108691", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000108691" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "85.01", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000108691", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000108691" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "78.21", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000108691", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000108691" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "93.11", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000108691", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000108691" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "99.71", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000108691", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000108691" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "85.59", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000108691", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000108691" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "95.52", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000108691", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000108691" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "90.22", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000108691", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000108691" } ] } ], "expression_disease": [ { "significant": "No", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "P13500", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P13500" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the 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"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", 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"MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": 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"https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", 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