{ "uniprot_canonical_ac": "P08493-1", "uniprot_ac": "P08493", "uniprot_id": "MGP_HUMAN", "mass": { "chemical_mass": 12353.0, "monoisotopic_mass": 12353.0 }, "refseq": { "ac": "NP_000891", "name": "matrix Gla protein isoform 2 preproprotein", "summary": "This gene encodes a member of the osteocalcin/matrix Gla family of proteins. The encoded vitamin K-dependent protein is secreted by chondrocytes and vascular smooth muscle cells, and functions as a physiological inhibitor of ectopic tissue calcification. Carboxylation status of the encoded protein is associated with calcification of the vasculature in human patients with cardiovascular disease and calcification of the synovial membranes in osteoarthritis patients. Mutations in this gene cause Keutel syndrome in human patients, which is characterized by abnormal cartilage calcification, peripheral pulmonary stenosis and facial hypoplasia. [provided by RefSeq, Sep 2016].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000891" }, "gene_names": [ { "name": "MGP", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P08493", "id": "P08493" }, { "name": "GIG36; MGLAP; NTI", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000891", "id": "NP_000891" }, { "name": "GIG36", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P08493", "id": "P08493" }, { "name": "MGLAP", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P08493", "id": "P08493" }, { "name": "MGP", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000891", "id": "NP_000891" } ], "protein_names": [ { "name": "Matrix Gla protein", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P08493" }, { "name": "Cell growth-inhibiting gene 36 protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P08493" }, { "name": "MGP", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P08493" }, { "name": "cell growth-inhibiting gene 36 protein", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000891", "id": "NP_000891" }, { "name": "matrix Gla protein isoform 2 preproprotein", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000891", "id": "NP_000891" } ], "function": [ { "annotation": "1,25-(OH)2D3 participates and modulates airway remodeling by reducing MGP and TGF-beta1 expression in TNF-alpha-induced airway smooth muscle cells.", "evidence": [ { "database": "RefSeq", "id": "NP_000891", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000891" }, { "database": "PubMed", "id": "35025148", "url": "https://glygen.org/publication/PubMed/35025148" } ] }, { "annotation": "Associates with the organic matrix of bone and cartilage. Thought to act as an inhibitor of bone formation.", "evidence": [ { "database": "UniProtKB", "id": "P08493", "url": "https://www.uniprot.org/uniprot/P08493#function" } ] }, { "annotation": "LncRNA MIR31HG Regulates Proliferation and Migration by Targeting Matrix Gla Protein in Nonsyndromic Cleft Lip With or Without Cleft Palate.", "evidence": [ { "database": "RefSeq", "id": "NP_000891", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000891" }, { "database": "PubMed", "id": "37327028", "url": "https://glygen.org/publication/PubMed/37327028" } ] }, { "annotation": "Matrix Gla Protein Levels Are Associated With Arterial Stiffness and Incident Heart Failure With Preserved Ejection Fraction.", "evidence": [ { "database": "RefSeq", "id": "NP_000891", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000891" }, { "database": "PubMed", "id": "34809448", "url": "https://glygen.org/publication/PubMed/34809448" } ] }, { "annotation": "Matrix Gla Protein drives stemness and tumor initiation in ovarian cancer. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_000891", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000891" }, { "database": "PubMed", "id": "36977707", "url": "https://glygen.org/publication/PubMed/36977707" } ] }, { "annotation": "Reduced APPL1 impairs osteogenic differentiation of mesenchymal stem cells by facilitating MGP expression to disrupt the BMP2 pathway in osteoporosis.", "evidence": [ { "database": "RefSeq", "id": "NP_000891", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000891" }, { "database": "PubMed", "id": "37187293", "url": "https://glygen.org/publication/PubMed/37187293" } ] }, { "annotation": "This gene encodes a member of the osteocalcin/matrix Gla family of proteins. The encoded vitamin K-dependent protein is secreted by chondrocytes and vascular smooth muscle cells, and functions as a physiological inhibitor of ectopic tissue calcification. Carboxylation status of the encoded protein is associated with calcification of the vasculature in human patients with cardiovascular disease and calcification of the synovial membranes in osteoarthritis patients. Mutations in this gene cause Keutel syndrome in human patients, which is characterized by abnormal cartilage calcification, peripheral pulmonary stenosis and facial hypoplasia. [provided by RefSeq, Sep 2016].", "evidence": [ { "database": "RefSeq", "id": "NP_000891", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000891" } ] } ], "disease": [ { "disease_id": "MONDO:0009495", "recommended_name": { "id": "MONDO:0009495", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009495", "name": "Keutel syndrome", "description": "Keutel syndrome is characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism." }, "synonyms": [ { "id": "MONDO:0009495", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009495", "name": "Keutel syndrome", "description": "" }, { "id": "MONDO:0009495", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009495", "name": "pulmonic stenosis-brachytelephalangism-calcification of cartilages syndrome", "description": "" }, { "id": "MONDO:0009495", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009495", "name": "KEUTEL syndrome", "description": "" }, { "id": "MONDO:0009495", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009495", "name": "KTLS", "description": "" }, { "id": "MONDO:0009495", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009495", "name": "pulmonic stenosis brachytelephalangism and calcification of cartilages", "description": "" }, { "id": "MONDO:0009495", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009495", "name": "pulmonic stenosis, brachytelephalangism, and calcification of cartilages", "description": "" }, { "id": "MIM:245150", "resource": "MIM", "url": "https://www.omim.org/entry/245150", "name": "Keutel syndrome", "description": "Keutel syndrome" } ], "evidence": [ { "id": "245150", "database": "MIM", "url": "https://www.omim.org/entry/245150" } ] } ], "snv": [ { "evidence": [ { "id": "P08493", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P08493" } ], "glycoeffect": [], "start_pos": 81, "end_pos": 81, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "12", "chr_pos": "14882209", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R81", "disease": [ { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ] }, { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", 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"resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] }, { "disease_id": "DOID: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": 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"https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "No", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "P08493", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P08493" } ], "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": "" }, { 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"name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": 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"https://glygen.org/publication/PubMed/8061611" }, { "database": "iPTMnet", "id": "P08493", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P08493" }, { "database": "phospho.ELM", "id": "P08493", "url": "http://phospho.elm.eu.org/byAccession/P08493.html" } ], "site_lbl": "Ser22" }, { "start_pos": 25, "end_pos": 25, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P08493", "url": "https://www.uniprot.org/uniprot/P08493" }, { "database": "PubMed", "id": "8061611", "url": "https://glygen.org/publication/PubMed/8061611" }, { "database": "iPTMnet", "id": "P08493", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P08493" }, { "database": "phospho.ELM", "id": "P08493", "url": "http://phospho.elm.eu.org/byAccession/P08493.html" } ], "site_lbl": "Ser25" }, { "start_pos": 28, "end_pos": 28, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P08493", "url": "https://www.uniprot.org/uniprot/P08493" }, { "database": "PubMed", "id": "8061611", "url": "https://glygen.org/publication/PubMed/8061611" }, { "database": "iPTMnet", "id": "P08493", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P08493" }, { "database": "phospho.ELM", "id": "P08493", "url": "http://phospho.elm.eu.org/byAccession/P08493.html" } ], "site_lbl": "Ser28" } ], "glycation": [], "keywords": [], "publication": [ { "title": "Carboxyl-terminal proteolytic processing of matrix Gla protein.", "journal": "J. Biol. Chem.", "date": "1991", "authors": "Hale JE, Williamson MK, Price PA", "evidence": [ { "database": "UniProtKB", "id": "P08493", "url": "https://www.uniprot.org/uniprot/P08493" } ], "reference": [ { "type": "PubMed", "id": "1939157", "url": "https://glygen.org/publication/PubMed/1939157" } ] }, { "title": "Overexpression of matrix Gla protein mRNA in malignant human breast cells: isolation by differential cDNA hybridization.", "journal": "Oncogene", "date": "1990", "authors": "Chen L, O'Bryan JP, Smith HS, Liu E", "evidence": [ { "database": "UniProtKB", "id": "P08493", "url": "https://www.uniprot.org/uniprot/P08493" } ], "reference": [ { "type": "PubMed", "id": "2216462", "url": "https://glygen.org/publication/PubMed/2216462" } ] }, { "title": "Molecular structure, chromosome assignment, and promoter organization of the human matrix Gla protein gene.", "journal": "J. Biol. Chem.", "date": "1990", "authors": "Francke U., Hsieh C.-L., Price P.A., Cancela M.L.", "evidence": [ { "database": "UniProtKB", "id": "P08493", "url": "https://www.uniprot.org/uniprot/P08493" } ], "reference": [ { "type": "PubMed", "id": "2394711", "url": "https://glygen.org/publication/PubMed/2394711" } ] }, { "title": "The cDNA and derived amino acid sequences for human and bovine matrix Gla protein.", "journal": "Nucleic Acids Res.", "date": "1988", "authors": "Kiefer MC, Bauer DM, Young D, Hermsen KM, Masiarz FR, Barr PJ", "evidence": [ { "database": "UniProtKB", "id": "P08493", "url": "https://www.uniprot.org/uniprot/P08493" } ], "reference": [ { "type": "PubMed", "id": "3387234", "url": "https://glygen.org/publication/PubMed/3387234" } ] }, { "title": "Matrix Gla Protein Levels Are Associated With Arterial Stiffness and Incident Heart Failure With Preserved Ejection Fraction.", "journal": "Arteriosclerosis, thrombosis, and vascular biology", "date": "2022", "authors": "Malhotra R, Nicholson CJ, Wang D, Bhambhani V, Paniagua S, Slocum C, Sigurslid HH, Lino Cardenas CL, Li R, Boerboom SL, Chen YC, Hwang SJ, Yao C, Ichinose F, Bloch DB, Lindsay ME, Lewis GD, Aragam JR, Hoffmann U, Mitchell GF, Hamburg NM, Vasan RS, Benjamin EJ, Larson MG, Zapol WM, Cheng S, Roh JD, O'Donnell CJ, Nguyen C, Levy D, Ho JE", "evidence": [ { "database": "RefSeq", "id": "NP_000891", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000891" } ], "reference": [ { "type": "PubMed", "id": "34809448", "url": "https://glygen.org/publication/PubMed/34809448" } ] }, { "title": "1,25-(OH)2D3 participates and modulates airway remodeling by reducing MGP and TGF-beta1 expression in TNF-alpha-induced airway smooth muscle cells.", "journal": "Advances in clinical and experimental medicine : official organ Wroclaw Medical University", "date": "2022", "authors": "Xing YM, Li PS, Liu Y", "evidence": [ { "database": "RefSeq", "id": "NP_000891", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000891" } ], "reference": [ { "type": "PubMed", "id": "35025148", "url": "https://glygen.org/publication/PubMed/35025148" } ] }, { "title": "Matrix Gla Protein drives stemness and tumor initiation in ovarian cancer.", "journal": "Cell death & disease", "date": "2023-03-28", "authors": "Nieddu V, Melocchi V, Battistini C, Franciosa G, Lupia M, Stellato C, Bertalot G, Olsen J V, Colombo N, Bianchi F, Cavallaro U", "evidence": [ { "database": "RefSeq", "id": "NP_000891", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000891" } ], "reference": [ { "type": "PubMed", "id": "36977707", "url": "https://glygen.org/publication/PubMed/36977707" } ] }, { "title": "Reduced APPL1 impairs osteogenic differentiation of mesenchymal stem cells by facilitating MGP expression to disrupt the BMP2 pathway in osteoporosis.", "journal": "The Journal of biological chemistry", "date": "2023-06", "authors": "Yuan Weiquan, Liu Wenjie, Zhang Yunhui, Wang Xinglang, Xu Chenhao, Li Quanfeng, Ji Pengfei, Wang Jiaxin, Feng Pei, Wu Yanfeng, Shen Huiyong, Wang Peng", "evidence": [ { "database": "RefSeq", "id": "NP_000891", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000891" } ], "reference": [ { "type": "PubMed", "id": "37187293", "url": "https://glygen.org/publication/PubMed/37187293" } ] }, { "title": "lncRNA MIR31HG Regulates Proliferation and Migration by Targeting Matrix Gla Protein in Nonsyndromic Cleft Lip With or Without Cleft Palate.", "journal": "DNA and cell biology", "date": "2023-07", "authors": "Li Xiaofeng, Xu Xinze, Liu Luwei, Tian Yu, Gao Yue, Zhu Guirong, Lou Shu, Zhong Weijie, Li Dandan, Pan Yongchu", "evidence": [ { "database": "RefSeq", "id": "NP_000891", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000891" } ], "reference": [ { "type": "PubMed", "id": "37327028", "url": "https://glygen.org/publication/PubMed/37327028" } ] }, { "title": "Conserved phosphorylation of serines in the Ser-X-Glu/Ser(P) sequences of the vitamin K-dependent matrix Gla protein from shark, lamb, rat, cow, and human.", "journal": "Protein science : a publication of the Protein Society", "date": "1994", "authors": "Price PA, Rice JS, Williamson MK", "evidence": [ { "database": "UniProtKB", "id": "P08493", "url": "https://www.uniprot.org/uniprot/P08493" }, { "database": "iPTMnet", "id": "P08493-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P08493-1" } ], "reference": [ { "type": "PubMed", "id": "8061611", "url": "https://glygen.org/publication/PubMed/8061611" } ] }, { "title": "Mutations in the gene encoding the human matrix Gla protein cause Keutel syndrome.", "journal": "Nat. Genet.", "date": "1999", "authors": "Gardiner R.M., Fryns J.-P., Chung E., Munroe P.B., Van Maldergem L., Yuksel B., Olgunturk R.O., Ziereisen F.", "evidence": [ { "database": "UniProtKB", "id": "P08493", "url": "https://www.uniprot.org/uniprot/P08493" } ], "reference": [ { "type": "PubMed", "id": "9916809", "url": "https://glygen.org/publication/PubMed/9916809" } ] } ], "pathway": [ { "id": "hsa:4256", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:4256", "resource": "KEGG Pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "P08494-1", "protein_name": "Matrix Gla protein", "gene_name": "Mgp", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MKSLLPLAILAALAVAALCYESHESMESYEVSPFTTRRNANTFISPQQRWHAKAQERVRELNKPAQEINREACDDYKLCERYALIYGYNAAYNRYFRQRRGAK", "length": 103 }, "evidence": [ { "id": "45228322", "url": "http://www.informatics.jax.org/homology/45228322", "database": "MGI" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": 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