{ "uniprot_canonical_ac": "P12643-1", "uniprot_ac": "P12643", "uniprot_id": "BMP2_HUMAN", "mass": { "chemical_mass": 44702.0, "monoisotopic_mass": 44702.0 }, "refseq": { "ac": "NP_001191", "name": "bone morphogenetic protein 2 preproprotein", "summary": "This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer, which plays a role in bone and cartilage development. Duplication of a regulatory region downstream of this gene causes a form of brachydactyly characterized by a malformed index finger and second toe in human patients. [provided by RefSeq, Jul 2016].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001191" }, "gene_names": [ { "name": "BMP2", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P12643", "id": "P12643" }, { "name": "BDA2; BMP2A; SSFSC; SSFSC1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001191", "id": "NP_001191" }, { "name": "BMP2A", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P12643", "id": "P12643" }, { "name": "BMP2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001191", "id": "NP_001191" } ], "protein_names": [ { "name": "Bone morphogenetic protein 2", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P12643" }, { "name": "BMP-2A", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P12643" }, { "name": "BMP-2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P12643" }, { "name": "Bone morphogenetic protein 2A", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P12643" }, { "name": "bone morphogenetic protein 2 preproprotein", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001191", "id": "NP_001191" }, { "name": "bone morphogenetic protein 2A", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001191", "id": "NP_001191" } ], "function": [ { "annotation": "ATOH8 Expression Is Regulated by BMP2 and Plays a Key Role in Human Endometrial Stromal Cell Decidualization.", "evidence": [ { "database": "RefSeq", "id": "NP_001191", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001191" }, { "database": "PubMed", "id": "38060684", "url": "https://glygen.org/publication/PubMed/38060684" } ] }, { "annotation": "BMP-9 Improves the Osteogenic Differentiation Ability over BMP-2 through p53 Signaling In Vitro in Human Periosteum-Derived Cells. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001191", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001191" }, { "database": "PubMed", "id": "37894931", "url": "https://glygen.org/publication/PubMed/37894931" } ] }, { "annotation": "BMP2 is a potential causative gene for isolated dextrocardia situs solitus.", "evidence": [ { "database": "RefSeq", "id": "NP_001191", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001191" }, { "database": "PubMed", "id": "37572998", "url": "https://glygen.org/publication/PubMed/37572998" } ] }, { "annotation": "Growth factor of the TGF-beta superfamily that plays essential roles in many developmental processes, including cardiogenesis, neurogenesis, and osteogenesis (PubMed:18436533, PubMed:31019025, PubMed:24362451). Induces cartilage and bone formation (PubMed:3201241). Initiates the canonical BMP signaling cascade by associating with type I receptor BMPR1A and type II receptor BMPR2 (PubMed:15064755, PubMed:17295905, PubMed:18436533). Once all three components are bound together in a complex at the cell surface, BMPR2 phosphorylates and activates BMPR1A (PubMed:7791754). In turn, BMPR1A propagates signal by phosphorylating SMAD1/5/8 that travel to the nucleus and act as activators and repressors of transcription of target genes. Also acts to promote expression of HAMP, via the interaction with its receptor BMPR1A/ALK3 (PubMed:31800957). Can also signal through non-canonical pathways such as ERK/MAP kinase signaling cascade that regulates osteoblast differentiation (PubMed:20851880, PubMed:16771708). Also stimulates the differentiation of myoblasts into osteoblasts via the EIF2AK3-EIF2A-ATF4 pathway by stimulating EIF2A phosphorylation which leads to increased expression of ATF4 which plays a central role in osteoblast differentiation (PubMed:24362451). Acts as a positive regulator of odontoblast differentiation during mesenchymal tooth germ formation, expression is repressed during the bell stage by MSX1-mediated inhibition of CTNNB1 signaling (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "P12643", "url": "https://www.uniprot.org/uniprot/P12643#function" }, { "database": "PubMed", "id": "24362451", "url": "https://glygen.org/publication/PubMed/24362451" }, { "database": "PubMed", "id": "3201241", "url": "https://glygen.org/publication/PubMed/3201241" }, { "database": "UniProtKB", "id": "P21274", "url": "https://www.uniprot.org/uniprot/P21274#function" }, { "database": "PubMed", "id": "15064755", "url": "https://glygen.org/publication/PubMed/15064755" }, { "database": "PubMed", "id": "7791754", "url": "https://glygen.org/publication/PubMed/7791754" }, { "database": "PubMed", "id": "18436533", "url": "https://glygen.org/publication/PubMed/18436533" }, { "database": "PubMed", "id": "20851880", "url": "https://glygen.org/publication/PubMed/20851880" }, { "database": "PubMed", "id": "17295905", "url": "https://glygen.org/publication/PubMed/17295905" }, { "database": "PubMed", "id": "31019025", "url": "https://glygen.org/publication/PubMed/31019025" }, { "database": "PubMed", "id": "31800957", "url": "https://glygen.org/publication/PubMed/31800957" } ] }, { "annotation": "H3K27me3-modulated Hofbauer cell BMP2 signalling enhancement compensates for shallow trophoblast invasion in preeclampsia.", "evidence": [ { "database": "RefSeq", "id": "NP_001191", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001191" }, { "database": "PubMed", "id": "37331163", "url": "https://glygen.org/publication/PubMed/37331163" } ] }, { "annotation": "MicroRNA 211-5p inhibits cancer cell proliferation and migration in pancreatic cancer by targeting BMP2.", "evidence": [ { "database": "RefSeq", "id": "NP_001191", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001191" }, { "database": "PubMed", "id": "38059889", "url": "https://glygen.org/publication/PubMed/38059889" } ] }, { "annotation": "This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer, which plays a role in bone and cartilage development. Duplication of a regulatory region downstream of this gene causes a form of brachydactyly characterized by a malformed index finger and second toe in human patients. [provided by RefSeq, Jul 2016].", "evidence": [ { "database": "RefSeq", "id": "NP_001191", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001191" } ] } ], "disease": [ { "disease_id": "DOID:0110965", "recommended_name": { "id": "DOID:0110965", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110965", "name": "brachydactyly type A2", "description": "A brachydactyly characterized by autosomal dominant inheritance of malformations of the middle phalanx of the index finger and anomalies of the second toe that has_material_basis_in heterozygous mutation in the BMPR1B gene on chromosome 4q or in the GDF5 gene on chromosome 20q11 or heterozygous duplication in a regulatory element of BMP2 on chromosome 20p12." }, "synonyms": [ { "id": "DOID:0110965", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110965", "name": "BDA2", "description": "" }, { "id": "DOID:0110965", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110965", "name": "Mohr-Wriedt type brachydactyly", "description": "" }, { "id": "DOID:0110965", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110965", "name": "brachymesophalangy II", "description": "" }, { "id": "MONDO:0007216", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007216", "name": "brachydactyly type A2", "description": "Brachydactyly type A2 (BDA2) is a congenital malformation characterized by shortening (hypoplasia or aplasia) of the middle phalanges of the index finger and, sometimes, of the little finger." }, { "id": "MONDO:0007216", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007216", "name": "BDA2", "description": "" }, { "id": "MONDO:0007216", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007216", "name": "Mohr-Wriedt type brachydactyly", "description": "" }, { "id": "MONDO:0007216", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007216", "name": "brachydactyly, Mohr-Wriedt type", "description": "" }, { "id": "MONDO:0007216", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007216", "name": "brachymesophalangy II", "description": "" }, { "id": "MONDO:0007216", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007216", "name": "Brachymesophalangy 2", "description": "" }, { "id": "MONDO:0007216", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007216", "name": "Brachymesophalangy type 2", "description": "" }, { "id": "MONDO:0007216", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007216", "name": "brachydactyly, type A2", "description": "" }, { "id": "MIM:112600", "resource": "MIM", "url": "https://www.omim.org/entry/112600", "name": "Brachydactyly A2", "description": "Brachydactyly A2" } ], "evidence": [ { "id": "112600", "database": "MIM", "url": "https://www.omim.org/entry/112600" } ] }, { "disease_id": "MONDO:0100297", "recommended_name": { "id": "MONDO:0100297", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100297", "name": "short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1", "description": "" }, "synonyms": [ { "id": "MONDO:0100297", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100297", "name": "SSFSC", "description": "" }, { "id": "MONDO:0100297", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100297", "name": "short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies", "description": "" }, { "id": "MIM:617877", "resource": "MIM", "url": "https://www.omim.org/entry/617877", "name": "Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1", "description": "Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1" } ], "evidence": [ { "id": "617877", "database": "MIM", "url": "https://www.omim.org/entry/617877" } ] } ], "snv": [ { "evidence": [ { "id": "P12643", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P12643" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 135, "end_pos": 135, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "N", "sequence_mut": "K", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-loss (NLS->KLS).", "chr_id": "20", "chr_pos": "6778303", "ref_nt": "T", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "N135", "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": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs759875304", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759875304" }, { "id": "rs759875304", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759875304" }, { "id": "rs759875304", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs759875304" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 137, "end_pos": 137, "sequence_org": "S", "sequence_mut": "G", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NLS->NLG).", "chr_id": "20", "chr_pos": "6778307", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S137", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1213913138", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1213913138" }, { "id": "rs1213913138", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1213913138" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 137, "end_pos": 137, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NLS->NLN).", "chr_id": "20", "chr_pos": "6778308", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S137", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1398205156", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1398205156" }, { "id": "rs1398205156", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1398205156" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 163, "end_pos": 163, "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NNS->KNS).", "chr_id": "20", "chr_pos": "6778387", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N163", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs953712707", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs953712707" }, { "id": "rs953712707", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs953712707#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 164, "end_pos": 164, "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NSS->DSS).", "chr_id": "20", "chr_pos": "6778388", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N164", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs773326826", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773326826" }, { "id": "rs773326826", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773326826" }, { "id": "rs773326826", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs773326826" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 164, "end_pos": 164, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NSS->SSS).", "chr_id": "20", "chr_pos": "6778389", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N164", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P12643", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P12643" }, { "id": "rs1188623371", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1188623371" }, { "id": "rs1188623371", "database": "NCI-TCGA", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1188623371" }, { "id": "rs1188623371", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1188623371#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 165, "end_pos": 165, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "G", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-loss (NNS->NNG).", "chr_id": "20", "chr_pos": "6778391", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "S165", "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "P12643", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P12643" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 166, "end_pos": 166, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-loss (NSS->NSN).", "chr_id": "20", "chr_pos": "6778395", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S166", "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": "" 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"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, 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"http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "No", "trend": "down", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "P12643", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P12643" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "P12643", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P12643" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P12643" } ], "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": 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"id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P12643" } ], "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": "No", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { 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(high mannose) asparagine High mannose", "start_pos": 338, "start_aa": "Asn", "end_pos": 338, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn338", "evidence": [ { "id": "P12643", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P12643#ptm_processing" }, { "id": "9265423", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/9265423" } ] }, { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "HSGQPGSPAPDHR", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "start_pos": 86, "start_aa": "His", "end_pos": 98, "end_aa": "Arg", "evidence": [ { "id": "P12643", "database": "UniCarbKB", "url": "" }, { "id": "23584533", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23584533" }, { "id": "10.1038/emboj.2013.79", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1038/emboj.2013.79" } ] } ], "phosphorylation": [ { "start_pos": 87, "end_pos": 87, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P12643", "url": "https://www.uniprot.org/uniprot/P12643" } ], "site_lbl": "Ser87" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan", "glycoprotein_reported", "glycoprotein_predicted" ], "publication": [ { "title": "Precision mapping of the human O-GalNAc glycoproteome through SimpleCell technology", "journal": "EMBO J", "date": "2013", "authors": "Steentoft C., Vakhrushev S.Y., Joshi H.J., Kong Y., Vester-Christensen M.B., Schjoldager K.T., Lavrsen K., Dabelsteen S., Pedersen N.B., Marcos-Silva L., Gupta R., Bennett E.P., Mandel U., Brunak S., Wandall H.H., Levery S.B., Clausen H.", "evidence": [ { "database": "UniCarbKB", "id": "P12643", "url": "" } ], "reference": [ { "type": "DOI", "id": "10.1038/emboj.2013.79", "url": "https://glygen.org/publication/DOI/10.1038/emboj.2013.79" } ] }, { "title": "The integrin alpha v beta 6 binds and activates latent TGF beta 1: a mechanism for regulating pulmonary inflammation and fibrosis.", "journal": "Cell", "date": "1999", "authors": "Munger JS, Huang X, Kawakatsu H, Griffiths MJ, Dalton SL, Wu J, Pittet JF, Kaminski N, Garat C, Matthay MA, Rifkin DB, Sheppard D", "evidence": [ { "database": "Reactome", "id": "R-HSA-2129379", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2129379" } ], "reference": [ { "type": "PubMed", "id": "10025398", "url": "https://glygen.org/publication/PubMed/10025398" } ] }, { "title": "Crystal structure of human bone morphogenetic protein-2 at 2.7 A resolution.", "journal": "J. 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Biol.", "date": "1999", "authors": "Scheufler C, Sebald W, H\u00fclsmeyer M", "evidence": [ { "database": "UniProtKB", "id": "P12643", "url": "https://www.uniprot.org/uniprot/P12643" } ], "reference": [ { "type": "PubMed", "id": "10074410", "url": "https://glygen.org/publication/PubMed/10074410" } ] }, { "title": "A Cbfa1-dependent genetic pathway controls bone formation beyond embryonic development.", "journal": "Genes & development", "date": "1999", "authors": "Ducy P, Starbuck M, Priemel M, Shen J, Pinero G, Geoffroy V, Amling M, Karsenty G", "evidence": [ { "database": "Reactome", "id": "R-HSA-8939902", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8939902" } ], "reference": [ { "type": "PubMed", "id": "10215629", "url": "https://glygen.org/publication/PubMed/10215629" } ] }, { "title": "Ultrastructural distribution of 36-kD microfibril-associated glycoprotein (MAGP-36) in human and bovine tissues.", "journal": "The journal of histochemistry and cytochemistry : official 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biology of the cell", "date": "2000", "authors": "Gilboa L, Nohe A, Geissendorfer T, Sebald W, Henis YI, Knaus P", "evidence": [ { "database": "Reactome", "id": "R-HSA-201451", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-201451" } ], "reference": [ { "type": "PubMed", "id": "10712517", "url": "https://glygen.org/publication/PubMed/10712517" } ] }, { "title": "Transcriptional autoregulation of the bone related CBFA1/RUNX2 gene.", "journal": "Journal of cellular physiology", "date": "2000", "authors": "Drissi H, Luc Q, Shakoori R, Chuva De Sousa Lopes S, Choi JY, Terry A, Hu M, Jones S, Neil JC, Lian JB, Stein JL, Van Wijnen AJ, Stein GS", "evidence": [ { "database": "Reactome", "id": "R-HSA-8939902", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8939902" } ], "reference": [ { "type": "PubMed", "id": "10911365", "url": "https://glygen.org/publication/PubMed/10911365" } ] }, { "title": "Specific sequence motif of 8-Cys repeats of TGF-beta binding proteins, LTBPs, 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"pmid": "" }, { "name": "positive regulation of DNA-binding transcription factor activity", "id": "GO:0051091", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051091", "evidence": [ { "database": "UniProtKB", "id": "P12643", "url": "https://www.uniprot.org/uniprot/P12643" } ], "pmid": "" }, { "name": "positive regulation of ERK1 and ERK2 cascade", "id": "GO:0070374", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070374", "evidence": [ { "database": "UniProtKB", "id": "P12643", "url": "https://www.uniprot.org/uniprot/P12643" } ], "pmid": "" }, { "name": "negative regulation of canonical Wnt signaling pathway", "id": "GO:0090090", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090090", "evidence": [ { "database": "UniProtKB", "id": "P12643", "url": "https://www.uniprot.org/uniprot/P12643" } ], "pmid": "" }, { "name": "response to hypoxia", "id": "GO:0001666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001666", "evidence": [ { "database": "UniProtKB", "id": "P12643", "url": 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constituent secretion", "id": "GO:0003331", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003331", "evidence": [ { "database": "UniProtKB", "id": "P12643", "url": "https://www.uniprot.org/uniprot/P12643" } ], "pmid": "" }, { "name": "protein destabilization", "id": "GO:0031648", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031648", "evidence": [ { "database": "UniProtKB", "id": "P12643", "url": "https://www.uniprot.org/uniprot/P12643" } ], "pmid": "" }, { "name": "branching involved in ureteric bud morphogenesis", "id": "GO:0001658", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001658", "evidence": [ { "database": "UniProtKB", "id": "P12643", "url": "https://www.uniprot.org/uniprot/P12643" } ], "pmid": "" }, { "name": "bone mineralization", "id": "GO:0030282", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030282", "evidence": [ { "database": "UniProtKB", "id": "P12643", "url": "https://www.uniprot.org/uniprot/P12643" } ], "pmid": "" }, { "name": "ameloblast differentiation", "id": "GO:0036305", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036305", "evidence": [ { "database": "UniProtKB", "id": "P12643", "url": "https://www.uniprot.org/uniprot/P12643" } ], "pmid": "" }, { "name": "lung vasculature development", "id": "GO:0060426", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060426", "evidence": [ { "database": "UniProtKB", "id": "P12643", "url": "https://www.uniprot.org/uniprot/P12643" } ], "pmid": "" }, { "name": "positive regulation of peroxisome proliferator activated receptor signaling pathway", "id": "GO:0035360", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035360", "evidence": [ { "database": "UniProtKB", "id": "P12643", "url": "https://www.uniprot.org/uniprot/P12643" } ], "pmid": "" }, { "name": "atrioventricular canal morphogenesis", "id": "GO:1905222", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905222", "evidence": [ { "database": "UniProtKB", "id": "P12643", "url": "https://www.uniprot.org/uniprot/P12643" } ], "pmid": "" }, { "name": "positive regulation of bone mineralization involved in bone maturation", "id": "GO:1900159", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900159", "evidence": [ { "database": "UniProtKB", "id": "P12643", "url": "https://www.uniprot.org/uniprot/P12643" } ], "pmid": "" }, { "name": "proteoglycan metabolic process", "id": "GO:0006029", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006029", "evidence": [ { "database": "UniProtKB", "id": "P12643", "url": "https://www.uniprot.org/uniprot/P12643" } ], "pmid": "" }, { "name": "endocardial cushion formation", "id": "GO:0003272", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003272", "evidence": [ { "database": "UniProtKB", "id": "P12643", "url": "https://www.uniprot.org/uniprot/P12643" } ], "pmid": "" }, { "name": "mesenchymal cell differentiation", "id": "GO:0048762", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048762", "evidence": [ { "database": "UniProtKB", "id": "P12643", "url": "https://www.uniprot.org/uniprot/P12643" } ], "pmid": "" }, { "name": "positive regulation of SMAD protein signal transduction", "id": "GO:0060391", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060391", "evidence": [ { "database": "UniProtKB", "id": "P12643", "url": "https://www.uniprot.org/uniprot/P12643" } ], "pmid": "" }, { "name": "mesenchyme development", "id": "GO:0060485", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060485", "evidence": [ { "database": "UniProtKB", "id": "P12643", "url": "https://www.uniprot.org/uniprot/P12643" } ], "pmid": "" }, { "name": "positive regulation of cartilage development", "id": "GO:0061036", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061036", "evidence": [ { "database": "UniProtKB", "id": "P12643", "url": "https://www.uniprot.org/uniprot/P12643" } ], "pmid": "" }, { "name": "negative regulation of steroid biosynthetic process", "id": "GO:0010894", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010894", "evidence": [ { "database": "UniProtKB", "id": "P12643", "url": 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