{ "uniprot_canonical_ac": "P12644-1", "uniprot_ac": "P12644", "uniprot_id": "BMP4_HUMAN", "mass": { "chemical_mass": 46555.0, "monoisotopic_mass": 46555.0 }, "refseq": { "ac": "NP_001193", "name": "bone morphogenetic protein 4 isoform a 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. This protein regulates heart development and adipogenesis. Mutations in this gene are associated with orofacial cleft and microphthalmia in human patients. The encoded protein may also be involved in the pathology of multiple cardiovascular diseases and human cancers. [provided by RefSeq, Jul 2016].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001193" }, "gene_names": [ { "name": "BMP4", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P12644", "id": "P12644" }, { "name": "BMP2B; BMP2B1; MCOPS6; OFC11; ZYME", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001193", "id": "NP_001193" }, { "name": "BMP2B", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P12644", "id": "P12644" }, { "name": "BMP4", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001193", "id": "NP_001193" }, { "name": "DVR4", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P12644", "id": "P12644" } ], "protein_names": [ { "name": "Bone morphogenetic protein 4", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P12644" }, { "name": "BMP-2B", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P12644" }, { "name": "BMP-4", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P12644" }, { "name": "Bone morphogenetic protein 2B", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P12644" }, { "name": "bone morphogenetic protein 2B", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001193", "id": "NP_001193" }, { "name": "bone morphogenetic protein 4 isoform a preproprotein", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001193", "id": "NP_001193" } ], "function": [ { "annotation": "BMP4 inhibits corneal neovascularization by interfering with tip cells in angiogenesis.", "evidence": [ { "database": "RefSeq", "id": "NP_001193", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001193" }, { "database": "PubMed", "id": "37858608", "url": "https://glygen.org/publication/PubMed/37858608" } ] }, { "annotation": "BMP4 participates in the pathogenesis of PCOS by regulating glucose metabolism and autophagy in granulosa cells under hyperandrogenic environment.", "evidence": [ { "database": "RefSeq", "id": "NP_001193", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001193" }, { "database": "PubMed", "id": "37858799", "url": "https://glygen.org/publication/PubMed/37858799" } ] }, { "annotation": "BMP4 up-regulated by 630 nm LED irradiation is associated with the amelioration of rheumatoid arthritis.", "evidence": [ { "database": "RefSeq", "id": "NP_001193", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001193" }, { "database": "PubMed", "id": "38101122", "url": "https://glygen.org/publication/PubMed/38101122" } ] }, { "annotation": "Growth factor of the TGF-beta superfamily that plays essential roles in many developmental processes, including neurogenesis, vascular development, angiogenesis and osteogenesis (PubMed:31363885). Acts in concert with PTHLH/PTHRP to stimulate ductal outgrowth during embryonic mammary development and to inhibit hair follicle induction (By similarity). Initiates the canonical BMP signaling cascade by associating with type I receptor BMPR1A and type II receptor BMPR2 (PubMed:25868050, PubMed:8006002). Once all three components are bound together in a complex at the cell surface, BMPR2 phosphorylates and activates BMPR1A. 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 (PubMed:25868050, PubMed:29212066). Positively regulates the expression of odontogenic development regulator MSX1 via inducing the IPO7-mediated import of SMAD1 to the nucleus (By similarity). Required for MSX1-mediated mesenchymal molar tooth bud development beyond the bud stage, via promoting Wnt signaling (By similarity). 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). Able to induce its own expression in dental mesenchymal cells and also in the neighboring dental epithelial cells via an MSX1-mediated pathway (By similarity). Can also signal through non-canonical BMP pathways such as ERK/MAP kinase, PI3K/Akt, or SRC cascades (PubMed:31363885). For example, induces SRC phosphorylation which, in turn, activates VEGFR2, leading to an angiogenic response (PubMed:31363885).", "evidence": [ { "database": "UniProtKB", "id": "P12644", "url": "https://www.uniprot.org/uniprot/P12644#function" }, { "database": "UniProtKB", "id": "P21275", "url": "https://www.uniprot.org/uniprot/P21275#function" }, { "database": "PubMed", "id": "29212066", "url": "https://glygen.org/publication/PubMed/29212066" }, { "database": "PubMed", "id": "8006002", "url": "https://glygen.org/publication/PubMed/8006002" }, { "database": "PubMed", "id": "31363885", "url": "https://glygen.org/publication/PubMed/31363885" }, { "database": "PubMed", "id": "25868050", "url": "https://glygen.org/publication/PubMed/25868050" } ] }, { "annotation": "Mutations in BMP4 cause eye, brain, and digit developmental anomalies: overlap between the BMP4 and hedgehog signaling pathways.", "evidence": [ { "database": "RefSeq", "id": "NP_001193", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001193" }, { "database": "PubMed", "id": "18252212", "url": "https://glygen.org/publication/PubMed/18252212" } ] }, { "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. This protein regulates heart development and adipogenesis. Mutations in this gene are associated with orofacial cleft and microphthalmia in human patients. The encoded protein may also be involved in the pathology of multiple cardiovascular diseases and human cancers. [provided by RefSeq, Jul 2016].", "evidence": [ { "database": "RefSeq", "id": "NP_001193", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001193" } ] } ], "disease": [ { "disease_id": "DOID:0080404", "recommended_name": { "id": "DOID:0080404", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080404", "name": "orofacial cleft 11", "description": "An orofacial cleft that has_material_basis_in heterozygous mutation in the BMP4 gene on chromosome 14q22." }, "synonyms": [ { "id": "DOID:0080404", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080404", "name": "nonsyndromic cleft lip with or without cleft palate 11", "description": "" }, { "id": "MONDO:0010906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010906", "name": "orofacial cleft 11", "description": "Any orofacial cleft in which the cause of the disease is a mutation in the BMP4 gene." }, { "id": "MONDO:0010906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010906", "name": "BMP4 orofacial cleft", "description": "" }, { "id": "MONDO:0010906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010906", "name": "orofacial cleft 11", "description": "" }, { "id": "MONDO:0010906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010906", "name": "orofacial cleft caused by mutation in BMP4", "description": "" }, { "id": "MONDO:0010906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010906", "name": "orofacial cleft type 11", "description": "" }, { "id": "MONDO:0010906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010906", "name": "OFC11", "description": "" }, { "id": "MONDO:0010906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010906", "name": "cleft Lip, congenital Healed", "description": "" }, { "id": "MONDO:0010906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010906", "name": "cleft lip with or without cleft palate, nonsyndromic, 11", "description": "" }, { "id": "MONDO:0010906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010906", "name": "congenital Healed cleft lip", "description": "" }, { "id": "MIM:600625", "resource": "MIM", "url": "https://www.omim.org/entry/600625", "name": "Non-syndromic orofacial cleft 11", "description": "Non-syndromic orofacial cleft 11" } ], "evidence": [ { "id": "600625", "database": "MIM", "url": "https://www.omim.org/entry/600625" } ] }, { "disease_id": "DOID:0111805", "recommended_name": { "id": "DOID:0111805", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111805", "name": "syndromic microphthalmia 6", "description": "A syndromic microphthalmia characterized by clinical anophthalmia or microphthalmia, retinal dystrophy, and/or myopia, associated in some cases with cerebral anomalies that has_material_basis_in heterozygous mutation in the BMP4 gene on chromosome 14q22.2." }, "synonyms": [ { "id": "DOID:0111805", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111805", "name": "MCOPS6", "description": "" }, { "id": "DOID:0111805", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111805", "name": "Bakrania-Ragge syndrome", "description": "" }, { "id": "DOID:0111805", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111805", "name": "microphthalmia and pituitary anomalies", "description": "" }, { "id": "DOID:0111805", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111805", "name": "microphthalmia with brain and digit anomalies", "description": "" }, { "id": "DOID:0111805", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111805", "name": "anophthalmia clinical with micrognathia malformed ears digital anomalies and abnormal external genitalia", "description": "" }, { "id": "DOID:0111805", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111805", "name": "syndromic microphthalmia type 6", "description": "" }, { "id": "MONDO:0011936", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011936", "name": "microphthalmia with brain and digit anomalies", "description": "Microphthalmia with brain and digit anomalies is characterized by anophthalmia or microphthalmia, retinal dystrophy, and/or myopia, associated in some cases with cerebral anomalies. It has been described in two families. Polydactyly may also be present. Linkage analysis allowed identification of mutations in the BMP4 gene, which has already been shown to play a role in eye development." }, { "id": "MONDO:0011936", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011936", "name": "Bakrania-Ragge syndrome", "description": "" }, { "id": "MONDO:0011936", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011936", "name": "MCOPS6", "description": "" }, { "id": "MONDO:0011936", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011936", "name": "microphthalmia with brain and digit anomalies", "description": "" }, { "id": "MONDO:0011936", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011936", "name": "microphthalmia, syndromic type 6", "description": "" }, { "id": "MONDO:0011936", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011936", "name": "syndromic microphthalmia type 6", "description": "" }, { "id": "MONDO:0011936", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011936", "name": "anophthalmia clinical with micrognathia malformed ears digital anomalies and abnormal external genitalia", "description": "" }, { "id": "MONDO:0011936", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011936", "name": "anophthalmia, clinical, with micrognathia, malformed ears, digital anomalies, and abnormal external genitalia", "description": "" }, { "id": "MONDO:0011936", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011936", "name": "microphthalmia and pituitary anomalies", "description": "" }, { "id": "MONDO:0011936", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011936", "name": "microphthalmia syndromic 6", "description": "" }, { "id": "MONDO:0011936", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011936", "name": "microphthalmia with brain and digit developmental anomalies", "description": "" }, { "id": "MONDO:0011936", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011936", "name": "microphthalmia, syndromic 6", "description": "" }, { "id": "MIM:607932", "resource": "MIM", "url": "https://www.omim.org/entry/607932", "name": "Microphthalmia, syndromic, 6", "description": "Microphthalmia, syndromic, 6" } ], "evidence": [ { "id": "607932", "database": "MIM", "url": "https://www.omim.org/entry/607932" } ] } ], "snv": [ { "evidence": [ { "id": "P12644", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P12644" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 100, "end_pos": 100, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "H", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (HST->NST).", "chr_id": "14", "chr_pos": "53951925", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "H100", "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" ] }, { "evidence": [ { "id": "rs1050432864", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1050432864" }, { "id": "rs1050432864", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1050432864" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 145, "end_pos": 145, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NLS->NLN).", "chr_id": "14", "chr_pos": "53950825", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S145", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs747381784", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747381784" }, { "id": "rs747381784", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747381784" }, { "id": "rs747381784", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs747381784" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 208, "end_pos": 208, "sequence_org": "N", "sequence_mut": "H", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NVT->HVT).", "chr_id": "14", "chr_pos": "53950637", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N208", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs556725634", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs556725634" }, { "id": "rs556725634", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs556725634" }, { "id": "rs556725634", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs556725634" }, { "id": "rs556725634", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs556725634#frequency_tab" }, { "id": "rs556725634", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs556725634" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 208, "end_pos": 208, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NVT->SVT).", "chr_id": "14", "chr_pos": "53950636", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "0.0002", "site_lbl": "N208", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P12644", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P12644" } ], "glycoeffect": [], "start_pos": 211, "end_pos": 211, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "W", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "14", "chr_pos": "53950628", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R211", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant 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"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", "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": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "P12644", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P12644" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": 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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": 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"description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "No", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "P12644", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P12644" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", 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"NTVRSFHHEGQSLPPVCVGEGWWDWLEGQ", "length": 29, "header": "tr|V9GYF1-1|BMP4_HUMAN Computationally mapped isoform of Bone morphogenetic protein 4 OS=Homo sapiens OX=9606 GN=BMP4 PE=1 SV=1 CANONICAL=P12644-1" }, "locus": { "chromosome": "14", "start_pos": 53951880, "end_pos": 53951794, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000609748.1", "url": "https://www.ensembl.org/id/ENST00000609748.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000476690.1", "url": "https://www.ensembl.org/id/ENSP00000476690.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 143, "start_aa": "Asn", "end_pos": 143, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn143", "evidence": [ { "id": "P12644", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P12644#ptm_processing" } ] }, { 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"start_pos": 365, "start_aa": "Asn", "end_pos": 365, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn365", "evidence": [ { "id": "P12644", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P12644#ptm_processing" } ] } ], "phosphorylation": [ { "start_pos": 91, "end_pos": 91, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine; by FAM20C", "evidence": [ { "database": "UniProtKB", "id": "P12644", "url": "https://www.uniprot.org/uniprot/P12644" }, { "database": "iPTMnet", "id": "P12644", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P12644" }, { "database": "PubMed", "id": "26091039", "url": "https://glygen.org/publication/PubMed/26091039" } ], "site_lbl": "Ser91" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_predicted" ], "publication": [ { "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": "N-Linked glycosylation and sialylation of the acid-labile subunit. Role in complex formation with insulin-like growth factor (IGF)-binding protein-3 and the IGFs.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Janosi JB, Firth SM, Bond JJ, Baxter RC, Delhanty PJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "10026136", "url": "https://glygen.org/publication/PubMed/10026136" } ] }, { "title": "The insulin-like growth factor (IGF)-dependent IGF binding protein-4 protease secreted by human fibroblasts is pregnancy-associated plasma protein-A.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1999", "authors": "Lawrence JB, Oxvig C, Overgaard MT, Sottrup-Jensen L, Gleich GJ, Hays LG, Yates JR 3rd, Conover CA", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], 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"MIPGNRMLMVVLLCQVLLGGATDASLIPETGKKKVAEIQGHAGGRRSGQSHELLRDFEATLLQMFGLRRRPQPSKSAVIPDYMRDLYRLQSGEEEEEEQSQGTGLEYPERPASRANTVRSFHHEEHLENIPGTSESSAFRFFFNLSSIPENEVISSAELRLFREQVDQGPDWEQGFHRINIYEVMKPPAEMVPGHLITRLLDTRLVRHNVTRWETFDVSPAVLRWTREKQPNYGLAIEVTHLHQTRTHQGQHVRISRSLPQGSGNWAQLRPLLVTFGHDGRGHTLTRRRAKRSPKHHPQRSRKKNKNCRRHSLYVDFSDVGWNDWIVAPPGYQAFYCHGDCPFPLADHLNSTNHAIVQTLVNSVNSSIPKACCVPTELSAISMLYLDEYDKVVLKNYQEMVVEGCGCR", "length": 408 }, "evidence": [ { "id": "45916580", "url": "http://www.informatics.jax.org/homology/45916580", "database": "MGI" } ], "common_name": "Rat" } ], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 3, "go_terms": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "P12644", "url": "https://www.uniprot.org/uniprot/P12644" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": 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"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042056", "evidence": [ { "database": "UniProtKB", "id": "P12644", "url": "https://www.uniprot.org/uniprot/P12644" } ], "pmid": "" }, { "name": "cytokine activity", "id": "GO:0005125", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005125", "evidence": [ { "database": "UniProtKB", "id": "P12644", "url": "https://www.uniprot.org/uniprot/P12644" } ], "pmid": "" }, { "name": "BMP receptor binding", "id": "GO:0070700", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070700", "evidence": [ { "database": "UniProtKB", "id": "P12644", "url": "https://www.uniprot.org/uniprot/P12644" } ], "pmid": "" }, { "name": "co-receptor binding", "id": "GO:0039706", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0039706", "evidence": [ { "database": "UniProtKB", "id": "P12644", "url": "https://www.uniprot.org/uniprot/P12644" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 138, "go_terms": [ { "name": "inner ear auditory receptor cell differentiation", "id": "GO:0042491", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042491", "evidence": [ { "database": "UniProtKB", "id": "P12644", "url": "https://www.uniprot.org/uniprot/P12644" } ], "pmid": "" }, { "name": "positive regulation of odontoblast differentiation", "id": "GO:1901331", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901331", "evidence": [ { "database": "UniProtKB", "id": "P12644", "url": "https://www.uniprot.org/uniprot/P12644" } ], "pmid": "" }, { "name": "pericyte cell differentiation", "id": "GO:1904238", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904238", "evidence": [ { "database": "UniProtKB", "id": "P12644", "url": "https://www.uniprot.org/uniprot/P12644" } ], "pmid": "" }, { "name": "negative regulation of transcription by RNA polymerase II", "id": "GO:0000122", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000122", "evidence": [ { "database": "UniProtKB", "id": "P12644", "url": "https://www.uniprot.org/uniprot/P12644" } ], "pmid": "" }, { "name": "positive regulation of protein phosphorylation", "id": "GO:0001934", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001934", "evidence": [ { "database": "UniProtKB", "id": "P12644", "url": "https://www.uniprot.org/uniprot/P12644" } ], "pmid": "" }, { "name": "positive regulation of cell population proliferation", "id": "GO:0008284", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008284", "evidence": [ { "database": "UniProtKB", "id": "P12644", "url": "https://www.uniprot.org/uniprot/P12644" } ], "pmid": "" }, { "name": "negative regulation of cell population proliferation", "id": "GO:0008285", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008285", "evidence": [ { "database": "UniProtKB", "id": "P12644", "url": "https://www.uniprot.org/uniprot/P12644" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "P12644", "url": "https://www.uniprot.org/uniprot/P12644" } ], "pmid": "" }, { "name": "negative regulation of gene expression", "id": "GO:0010629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010629", "evidence": [ { "database": "UniProtKB", "id": "P12644", "url": "https://www.uniprot.org/uniprot/P12644" } ], "pmid": "" }, { "name": "positive regulation of protein binding", "id": "GO:0032092", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032092", "evidence": [ { "database": "UniProtKB", "id": "P12644", "url": "https://www.uniprot.org/uniprot/P12644" } ], "pmid": "" }, { "name": "positive regulation of apoptotic process", "id": "GO:0043065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043065", "evidence": [ { "database": "UniProtKB", "id": "P12644", "url": "https://www.uniprot.org/uniprot/P12644" } ], "pmid": "" }, { "name": "positive regulation of neuron differentiation", "id": "GO:0045666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045666", "evidence": [ { "database": "UniProtKB", "id": "P12644", "url": "https://www.uniprot.org/uniprot/P12644" } ], "pmid": "" }, { "name": "positive regulation of transcription by RNA polymerase II", "id": "GO:0045944", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045944", "evidence": [ { "database": "UniProtKB", "id": "P12644", "url": "https://www.uniprot.org/uniprot/P12644" } ], "pmid": "" }, { "name": "lung alveolus development", "id": "GO:0048286", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048286", "evidence": [ { "database": "UniProtKB", "id": "P12644", "url": "https://www.uniprot.org/uniprot/P12644" } ], "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": "P12644", "url": "https://www.uniprot.org/uniprot/P12644" } ], "pmid": "" }, { "name": "kidney development", "id": "GO:0001822", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001822", "evidence": [ { "database": "UniProtKB", "id": "P12644", "url": "https://www.uniprot.org/uniprot/P12644" } ], "pmid": "" }, { "name": "negative regulation of DNA-templated transcription", "id": "GO:0045892", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045892", "evidence": [ { "database": "UniProtKB", "id": "P12644", "url": "https://www.uniprot.org/uniprot/P12644" } ], "pmid": "" }, { "name": "negative regulation of epithelial cell proliferation", "id": "GO:0050680", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050680", "evidence": [ { "database": "UniProtKB", "id": "P12644", "url": "https://www.uniprot.org/uniprot/P12644" } ], "pmid": "" }, { "name": "erythrocyte differentiation", "id": "GO:0030218", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030218", "evidence": [ { "database": "UniProtKB", "id": "P12644", "url": "https://www.uniprot.org/uniprot/P12644" } ], "pmid": "" }, { "name": "positive regulation of collagen biosynthetic process", "id": "GO:0032967", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032967", "evidence": [ { "database": "UniProtKB", "id": "P12644", "url": "https://www.uniprot.org/uniprot/P12644" } ], "pmid": "" }, { "name": "positive regulation of DNA-templated transcription", "id": "GO:0045893", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045893", "evidence": [ { "database": "UniProtKB", "id": "P12644", "url": "https://www.uniprot.org/uniprot/P12644" } ], "pmid": "" }, { "name": "positive regulation of smooth muscle cell proliferation", "id": "GO:0048661", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048661", "evidence": [ { "database": "UniProtKB", "id": "P12644", "url": "https://www.uniprot.org/uniprot/P12644" } ], "pmid": "" }, { "name": "negative regulation of thymocyte apoptotic process", "id": "GO:0070244", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070244", "evidence": [ { "database": "UniProtKB", "id": "P12644", "url": "https://www.uniprot.org/uniprot/P12644" } ], "pmid": "" }, { "name": "neural tube closure", "id": "GO:0001843", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001843", "evidence": [ { "database": "UniProtKB", "id": "P12644", "url": "https://www.uniprot.org/uniprot/P12644" } ], "pmid": "" }, { "name": "positive regulation of endothelial cell proliferation", "id": "GO:0001938", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001938", "evidence": [ { "database": "UniProtKB", "id": "P12644", "url": "https://www.uniprot.org/uniprot/P12644" } ], "pmid": "" }, { "name": "heart morphogenesis", "id": "GO:0003007", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003007", "evidence": [ { "database": "UniProtKB", "id": "P12644", "url": "https://www.uniprot.org/uniprot/P12644" } ], "pmid": "" }, { "name": "post-embryonic development", "id": "GO:0009791", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009791", "evidence": [ { "database": "UniProtKB", "id": "P12644", "url": "https://www.uniprot.org/uniprot/P12644" } ], "pmid": "" }, { "name": "pituitary gland development", "id": "GO:0021983", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021983", "evidence": [ { "database": "UniProtKB", "id": "P12644", "url": "https://www.uniprot.org/uniprot/P12644" } ], "pmid": "" }, { "name": "BMP signaling pathway", "id": "GO:0030509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030509", "evidence": [ { "database": "UniProtKB", "id": "P12644", "url": "https://www.uniprot.org/uniprot/P12644" } ], "pmid": "" }, { "name": "SMAD protein signal transduction", "id": "GO:0060395", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060395", "evidence": [ { "database": "UniProtKB", "id": "P12644", "url": "https://www.uniprot.org/uniprot/P12644" } ], "pmid": "" }, { "name": "positive regulation of bone mineralization", "id": "GO:0030501", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030501", "evidence": [ { "database": "UniProtKB", "id": "P12644", "url": "https://www.uniprot.org/uniprot/P12644" } ], "pmid": "" }, { "name": "transcription by RNA polymerase II", "id": "GO:0006366", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006366", "evidence": [ { "database": "UniProtKB", "id": "P12644", "url": "https://www.uniprot.org/uniprot/P12644" } ], "pmid": "" }, { "name": "blood vessel endothelial cell proliferation involved in sprouting angiogenesis", "id": "GO:0002043", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002043", "evidence": [ { "database": "UniProtKB", "id": "P12644", "url": "https://www.uniprot.org/uniprot/P12644" } ], "pmid": "" }, { "name": "positive regulation of BMP signaling pathway", "id": "GO:0030513", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030513", "evidence": [ { "database": "UniProtKB", "id": "P12644", "url": "https://www.uniprot.org/uniprot/P12644" } ], "pmid": "" }, { "name": "positive regulation of endothelial cell differentiation", "id": "GO:0045603", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045603", "evidence": [ { "database": "UniProtKB", "id": "P12644", "url": "https://www.uniprot.org/uniprot/P12644" } ], "pmid": "" }, { "name": "positive regulation of epidermal cell differentiation", "id": "GO:0045606", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045606", "evidence": [ { "database": "UniProtKB", "id": "P12644", "url": "https://www.uniprot.org/uniprot/P12644" } ], "pmid": "" }, { "name": "cellular response to BMP stimulus", "id": "GO:0071773", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071773", "evidence": [ { "database": "UniProtKB", "id": "P12644", "url": "https://www.uniprot.org/uniprot/P12644" } ], "pmid": "" }, { "name": "odontogenesis of dentin-containing tooth", "id": "GO:0042475", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042475", "evidence": [ { "database": "UniProtKB", "id": "P12644", "url": "https://www.uniprot.org/uniprot/P12644" } ], "pmid": "" }, { "name": "odontogenesis", "id": "GO:0042476", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042476", "evidence": [ { "database": "UniProtKB", "id": "P12644", "url": "https://www.uniprot.org/uniprot/P12644" } ], "pmid": "" }, { "name": "embryonic cranial skeleton morphogenesis", "id": "GO:0048701", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048701", "evidence": [ { "database": "UniProtKB", "id": "P12644", "url": "https://www.uniprot.org/uniprot/P12644" } ], "pmid": "" }, { "name": "coronary vasculature development", "id": "GO:0060976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060976", "evidence": [ { "database": "UniProtKB", "id": "P12644", "url": "https://www.uniprot.org/uniprot/P12644" } ], "pmid": "" }, { "name": "positive regulation of p38MAPK cascade", "id": "GO:1900745", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900745", "evidence": [ { "database": "UniProtKB", "id": "P12644", "url": "https://www.uniprot.org/uniprot/P12644" } ], "pmid": "" }, { "name": "germ cell development", "id": "GO:0007281", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007281", "evidence": [ { "database": "UniProtKB", "id": "P12644", "url": "https://www.uniprot.org/uniprot/P12644" } ], "pmid": "" }, { "name": "embryonic hindlimb morphogenesis", "id": "GO:0035116", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035116", "evidence": [ { "database": "UniProtKB", "id": "P12644", "url": "https://www.uniprot.org/uniprot/P12644" } ], "pmid": "" }, { "name": "positive regulation of osteoblast differentiation", "id": "GO:0045669", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045669", "evidence": [ { "database": "UniProtKB", "id": "P12644", "url": "https://www.uniprot.org/uniprot/P12644" } ], "pmid": "" }, { "name": "smooth muscle cell differentiation", "id": "GO:0051145", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051145", "evidence": [ { "database": "UniProtKB", "id": "P12644", "url": "https://www.uniprot.org/uniprot/P12644" } ], "pmid": "" }, { "name": "cardiac muscle cell differentiation", "id": "GO:0055007", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055007", "evidence": [ { "database": "UniProtKB", "id": "P12644", "url": "https://www.uniprot.org/uniprot/P12644" } ], "pmid": "" }, { "name": "negative regulation of extrinsic apoptotic signaling pathway", "id": "GO:2001237", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001237", "evidence": [ { "database": "UniProtKB", "id": "P12644", "url": "https://www.uniprot.org/uniprot/P12644" } ], "pmid": "" }, { "name": "osteoblast differentiation", "id": "GO:0001649", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001649", "evidence": [ { "database": "UniProtKB", "id": "P12644", "url": "https://www.uniprot.org/uniprot/P12644" } ], "pmid": "" }, { "name": "chondrocyte differentiation", "id": "GO:0002062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002062", "evidence": [ { "database": "UniProtKB", "id": "P12644", "url": "https://www.uniprot.org/uniprot/P12644" } ], "pmid": "" }, { "name": "positive regulation of epithelial to mesenchymal transition", "id": "GO:0010718", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010718", "evidence": [ { "database": "UniProtKB", "id": "P12644", "url": "https://www.uniprot.org/uniprot/P12644" } ], "pmid": "" }, { "name": "embryonic digit morphogenesis", "id": "GO:0042733", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042733", "evidence": [ { "database": "UniProtKB", "id": "P12644", "url": "https://www.uniprot.org/uniprot/P12644" } ], "pmid": "" }, { "name": "hematopoietic progenitor cell differentiation", "id": "GO:0002244", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002244", "evidence": [ { "database": "UniProtKB", "id": "P12644", "url": "https://www.uniprot.org/uniprot/P12644" } ], "pmid": "" }, { "name": "negative regulation of mitotic nuclear division", "id": "GO:0045839", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045839", "evidence": [ { "database": "UniProtKB", "id": "P12644", "url": "https://www.uniprot.org/uniprot/P12644" } ], "pmid": "" }, { "name": "positive regulation of protein localization to nucleus", "id": "GO:1900182", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900182", "evidence": [ { "database": "UniProtKB", "id": "P12644", "url": "https://www.uniprot.org/uniprot/P12644" } ], "pmid": "" }, { "name": "metanephros development", "id": "GO:0001656", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001656", "evidence": [ { "database": "UniProtKB", "id": "P12644", "url": "https://www.uniprot.org/uniprot/P12644" } ], "pmid": "" }, { "name": "endoderm development", "id": "GO:0007492", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007492", "evidence": [ { "database": "UniProtKB", "id": "P12644", "url": "https://www.uniprot.org/uniprot/P12644" } ], "pmid": "" }, { "name": "negative regulation of cell cycle", "id": "GO:0045786", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045786", "evidence": [ { "database": "UniProtKB", "id": "P12644", "url": "https://www.uniprot.org/uniprot/P12644" } ], "pmid": "" }, { "name": "renal system process", "id": "GO:0003014", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003014", "evidence": [ { "database": "UniProtKB", "id": "P12644", "url": "https://www.uniprot.org/uniprot/P12644" } ], "pmid": "" }, { "name": "negative regulation of immature T cell proliferation in thymus", "id": "GO:0033088", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033088", "evidence": [ { "database": "UniProtKB", "id": "P12644", "url": "https://www.uniprot.org/uniprot/P12644" } ], "pmid": "" }, { "name": "negative regulation of myoblast differentiation", "id": "GO:0045662", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045662", "evidence": [ { "database": "UniProtKB", "id": "P12644", "url": "https://www.uniprot.org/uniprot/P12644" } ], "pmid": "" }, { "name": "positive regulation of epithelial cell proliferation", "id": "GO:0050679", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050679", "evidence": [ { "database": "UniProtKB", "id": "P12644", "url": "https://www.uniprot.org/uniprot/P12644" } ], "pmid": "" }, { "name": "ureteric bud development", "id": "GO:0001657", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001657", "evidence": [ { "database": "UniProtKB", "id": "P12644", "url": "https://www.uniprot.org/uniprot/P12644" } ], "pmid": "" }, { "name": "neuron fate commitment", "id": "GO:0048663", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048663", "evidence": [ { "database": "UniProtKB", "id": "P12644", "url": "https://www.uniprot.org/uniprot/P12644" } ], "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": "P12644", "url": "https://www.uniprot.org/uniprot/P12644" } ], "pmid": "" }, { "name": "lymphoid progenitor cell differentiation", "id": "GO:0002320", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002320", "evidence": [ { "database": "UniProtKB", "id": "P12644", "url": "https://www.uniprot.org/uniprot/P12644" } ], "pmid": "" }, { "name": "negative regulation of chondrocyte differentiation", "id": "GO:0032331", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032331", "evidence": [ { "database": "UniProtKB", "id": "P12644", "url": "https://www.uniprot.org/uniprot/P12644" } ], "pmid": "" }, { "name": "ameloblast differentiation", "id": "GO:0036305", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036305", "evidence": [ { "database": "UniProtKB", "id": "P12644", "url": "https://www.uniprot.org/uniprot/P12644" } ], "pmid": "" }, { "name": "lung vasculature development", "id": "GO:0060426", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060426", "evidence": [ { "database": "UniProtKB", "id": "P12644", "url": "https://www.uniprot.org/uniprot/P12644" } ], "pmid": "" }, { "name": "nephric duct formation", "id": "GO:0072179", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072179", "evidence": [ { "database": "UniProtKB", "id": "P12644", "url": "https://www.uniprot.org/uniprot/P12644" } ], "pmid": "" }, { "name": "ureter morphogenesis", "id": "GO:0072197", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072197", "evidence": [ { "database": "UniProtKB", "id": "P12644", "url": "https://www.uniprot.org/uniprot/P12644" } ], "pmid": "" }, { "name": "secondary heart field specification", "id": "GO:0003139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003139", "evidence": [ { "database": "UniProtKB", "id": "P12644", "url": "https://www.uniprot.org/uniprot/P12644" } ], "pmid": "" }, { "name": "anterior/posterior axis specification", "id": "GO:0009948", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009948", "evidence": [ { "database": "UniProtKB", "id": "P12644", "url": "https://www.uniprot.org/uniprot/P12644" } ], "pmid": "" }, { "name": "mesonephros development", "id": "GO:0001823", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001823", "evidence": [ { "database": "UniProtKB", "id": "P12644", "url": "https://www.uniprot.org/uniprot/P12644" } ], "pmid": "" }, { "name": "endochondral ossification", "id": "GO:0001958", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001958", "evidence": [ { "database": "UniProtKB", "id": "P12644", "url": "https://www.uniprot.org/uniprot/P12644" } ], "pmid": "" }, { "name": "type B pancreatic cell development", "id": "GO:0003323", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003323", "evidence": [ { "database": "UniProtKB", "id": "P12644", "url": "https://www.uniprot.org/uniprot/P12644" } ], "pmid": "" }, { "name": "positive regulation of programmed cell death", "id": "GO:0043068", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043068", "evidence": [ { "database": "UniProtKB", "id": "P12644", "url": "https://www.uniprot.org/uniprot/P12644" } ], "pmid": "" }, { "name": "embryonic skeletal joint morphogenesis", "id": "GO:0060272", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060272", "evidence": [ { "database": "UniProtKB", "id": "P12644", "url": "https://www.uniprot.org/uniprot/P12644" } ], "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": "P12644", "url": "https://www.uniprot.org/uniprot/P12644" } ], "pmid": "" }, { "name": "negative regulation of prostatic bud formation", "id": "GO:0060686", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060686", "evidence": [ { "database": "UniProtKB", "id": "P12644", "url": "https://www.uniprot.org/uniprot/P12644" } ], "pmid": "" }, { "name": "regulation of branching involved in prostate gland morphogenesis", "id": "GO:0060687", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060687", "evidence": [ { "database": "UniProtKB", "id": "P12644", "url": "https://www.uniprot.org/uniprot/P12644" } ], "pmid": "" }, { "name": "positive regulation of cartilage development", "id": "GO:0061036", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061036", "evidence": [ { "database": "UniProtKB", "id": "P12644", "url": "https://www.uniprot.org/uniprot/P12644" } ], "pmid": "" }, { "name": "negative regulation of glomerular mesangial cell proliferation", "id": "GO:0072125", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072125", "evidence": [ { "database": "UniProtKB", "id": "P12644", "url": "https://www.uniprot.org/uniprot/P12644" } ], "pmid": "" }, { "name": "positive regulation of cardiac neural crest cell migration involved in outflow tract morphogenesis", "id": "GO:1905312", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905312", "evidence": [ { "database": "UniProtKB", "id": "P12644", "url": "https://www.uniprot.org/uniprot/P12644" } ], "pmid": "" }, { "name": "outflow tract septum morphogenesis", "id": "GO:0003148", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003148", "evidence": [ { "database": "UniProtKB", "id": "P12644", "url": "https://www.uniprot.org/uniprot/P12644" } ], "pmid": "" }, { "name": "membranous septum morphogenesis", "id": "GO:0003149", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003149", "evidence": [ { "database": "UniProtKB", "id": "P12644", "url": "https://www.uniprot.org/uniprot/P12644" } ], "pmid": "" }, { "name": "aortic valve morphogenesis", "id": "GO:0003180", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003180", "evidence": [ { "database": "UniProtKB", "id": "P12644", "url": "https://www.uniprot.org/uniprot/P12644" } ], "pmid": "" }, { "name": "pulmonary valve morphogenesis", "id": "GO:0003184", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003184", "evidence": [ { "database": "UniProtKB", "id": "P12644", "url": "https://www.uniprot.org/uniprot/P12644" } ], "pmid": "" }, { "name": "endocardial cushion development", "id": "GO:0003197", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003197", "evidence": [ { "database": "UniProtKB", "id": "P12644", "url": "https://www.uniprot.org/uniprot/P12644" } ], "pmid": "" }, { "name": "cardiac septum development", "id": "GO:0003279", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003279", "evidence": [ { "database": "UniProtKB", "id": "P12644", "url": "https://www.uniprot.org/uniprot/P12644" } ], "pmid": "" }, { "name": "mesodermal cell fate determination", "id": "GO:0007500", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007500", "evidence": [ { "database": "UniProtKB", "id": "P12644", "url": "https://www.uniprot.org/uniprot/P12644" } ], "pmid": "" }, { "name": "specification of animal organ position", "id": "GO:0010159", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010159", "evidence": [ { "database": "UniProtKB", "id": "P12644", "url": "https://www.uniprot.org/uniprot/P12644" } ], "pmid": "" }, { "name": "regulation of cell fate commitment", "id": "GO:0010453", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010453", "evidence": [ { "database": "UniProtKB", "id": "P12644", "url": "https://www.uniprot.org/uniprot/P12644" } ], "pmid": "" }, { "name": "telencephalon development", "id": "GO:0021537", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021537", "evidence": [ { "database": "UniProtKB", "id": "P12644", "url": "https://www.uniprot.org/uniprot/P12644" } ], "pmid": "" }, { "name": "dorsal/ventral neural tube patterning", "id": "GO:0021904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021904", "evidence": [ { "database": "UniProtKB", "id": "P12644", "url": "https://www.uniprot.org/uniprot/P12644" } ], "pmid": "" }, { "name": "telencephalon regionalization", "id": "GO:0021978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021978", "evidence": [ { "database": "UniProtKB", "id": "P12644", "url": "https://www.uniprot.org/uniprot/P12644" } ], "pmid": "" }, { "name": "monocyte differentiation", "id": "GO:0030224", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030224", "evidence": [ { "database": "UniProtKB", "id": "P12644", "url": "https://www.uniprot.org/uniprot/P12644" } ], "pmid": "" }, { "name": "macrophage differentiation", "id": "GO:0030225", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030225", "evidence": [ { "database": "UniProtKB", "id": "P12644", "url": "https://www.uniprot.org/uniprot/P12644" } ], "pmid": "" }, { "name": "negative regulation of T cell differentiation in thymus", "id": "GO:0033085", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033085", "evidence": [ { "database": "UniProtKB", "id": "P12644", "url": "https://www.uniprot.org/uniprot/P12644" } ], "pmid": "" }, { "name": "tendon cell differentiation", "id": "GO:0035990", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035990", "evidence": [ { "database": "UniProtKB", "id": "P12644", "url": "https://www.uniprot.org/uniprot/P12644" } ], "pmid": "" }, { "name": "deltoid tuberosity development", "id": "GO:0035993", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035993", "evidence": [ { "database": "UniProtKB", "id": "P12644", "url": "https://www.uniprot.org/uniprot/P12644" } ], "pmid": "" }, { "name": "regulation of protein import into nucleus", "id": "GO:0042306", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042306", "evidence": [ { "database": "UniProtKB", "id": "P12644", "url": "https://www.uniprot.org/uniprot/P12644" } ], "pmid": "" }, { "name": "regulation of odontogenesis of dentin-containing tooth", "id": "GO:0042487", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042487", "evidence": [ { "database": "UniProtKB", "id": "P12644", "url": "https://www.uniprot.org/uniprot/P12644" } ], "pmid": "" }, { "name": "positive regulation of ossification", "id": "GO:0045778", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045778", "evidence": [ { "database": "UniProtKB", "id": "P12644", "url": "https://www.uniprot.org/uniprot/P12644" } ], "pmid": "" }, { "name": "negative regulation of striated muscle tissue development", "id": "GO:0045843", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045843", "evidence": [ { "database": "UniProtKB", "id": "P12644", "url": "https://www.uniprot.org/uniprot/P12644" } ], "pmid": "" }, { "name": "intermediate mesodermal cell differentiation", "id": "GO:0048392", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048392", "evidence": [ { "database": "UniProtKB", "id": "P12644", "url": "https://www.uniprot.org/uniprot/P12644" } ], "pmid": "" }, { "name": "smooth muscle tissue development", "id": "GO:0048745", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048745", "evidence": [ { "database": "UniProtKB", "id": "P12644", "url": "https://www.uniprot.org/uniprot/P12644" } ], "pmid": "" }, { "name": "regulation of smooth muscle cell differentiation", "id": "GO:0051150", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051150", "evidence": [ { "database": "UniProtKB", "id": "P12644", "url": "https://www.uniprot.org/uniprot/P12644" } ], "pmid": "" }, { "name": "positive regulation of cardiac muscle fiber development", "id": "GO:0055020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055020", "evidence": [ { "database": "UniProtKB", "id": "P12644", "url": "https://www.uniprot.org/uniprot/P12644" } ], "pmid": "" }, { "name": "lens induction in camera-type eye", "id": "GO:0060235", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060235", "evidence": [ { "database": "UniProtKB", "id": "P12644", "url": "https://www.uniprot.org/uniprot/P12644" } ], "pmid": "" }, { "name": "cranial suture morphogenesis", "id": "GO:0060363", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060363", "evidence": [ { "database": "UniProtKB", "id": "P12644", "url": "https://www.uniprot.org/uniprot/P12644" } ], "pmid": "" }, { "name": "lung morphogenesis", "id": "GO:0060425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060425", "evidence": [ { "database": "UniProtKB", "id": "P12644", "url": "https://www.uniprot.org/uniprot/P12644" } ], "pmid": "" }, { "name": "bronchus development", "id": "GO:0060433", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060433", "evidence": [ { "database": "UniProtKB", "id": "P12644", "url": "https://www.uniprot.org/uniprot/P12644" } ], "pmid": "" }, { "name": "trachea development", "id": "GO:0060438", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060438", "evidence": [ { "database": "UniProtKB", "id": "P12644", "url": "https://www.uniprot.org/uniprot/P12644" } ], "pmid": "" }, { "name": "trachea formation", "id": "GO:0060440", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060440", "evidence": [ { "database": "UniProtKB", "id": "P12644", "url": "https://www.uniprot.org/uniprot/P12644" } ], "pmid": "" }, { "name": "epithelial tube branching involved in lung morphogenesis", "id": "GO:0060441", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060441", "evidence": [ { "database": "UniProtKB", "id": "P12644", "url": "https://www.uniprot.org/uniprot/P12644" } ], "pmid": "" }, { "name": "branching involved in prostate gland morphogenesis", "id": "GO:0060442", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060442", "evidence": [ { "database": "UniProtKB", "id": "P12644", "url": "https://www.uniprot.org/uniprot/P12644" } ], "pmid": "" }, { "name": "bud elongation involved in lung branching", "id": "GO:0060449", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060449", "evidence": [ { "database": "UniProtKB", "id": "P12644", "url": "https://www.uniprot.org/uniprot/P12644" } ], "pmid": "" }, { "name": "epithelial cell proliferation involved in lung morphogenesis", "id": "GO:0060502", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060502", "evidence": [ { "database": "UniProtKB", "id": "P12644", "url": "https://www.uniprot.org/uniprot/P12644" } ], "pmid": "" }, { "name": "bud dilation involved in lung branching", "id": "GO:0060503", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060503", "evidence": [ { "database": "UniProtKB", "id": "P12644", "url": "https://www.uniprot.org/uniprot/P12644" } ], "pmid": "" }, { "name": "mammary gland formation", "id": "GO:0060592", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060592", "evidence": [ { "database": "UniProtKB", "id": "P12644", "url": "https://www.uniprot.org/uniprot/P12644" } ], "pmid": "" }, { "name": "epithelial-mesenchymal cell signaling", "id": "GO:0060684", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060684", "evidence": [ { "database": "UniProtKB", "id": "P12644", "url": "https://www.uniprot.org/uniprot/P12644" } ], "pmid": "" }, { "name": "positive regulation of branching involved in lung morphogenesis", "id": "GO:0061047", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061047", "evidence": [ { "database": "UniProtKB", "id": "P12644", "url": "https://www.uniprot.org/uniprot/P12644" } ], "pmid": "" }, { "name": "pharyngeal arch artery morphogenesis", "id": "GO:0061626", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061626", "evidence": [ { "database": "UniProtKB", "id": "P12644", "url": "https://www.uniprot.org/uniprot/P12644" } ], "pmid": "" }, { "name": "glomerular capillary formation", "id": "GO:0072104", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072104", "evidence": [ { "database": "UniProtKB", "id": "P12644", "url": "https://www.uniprot.org/uniprot/P12644" } ], "pmid": "" }, { "name": "negative regulation of mesenchymal cell proliferation involved in ureter development", "id": "GO:0072200", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072200", "evidence": [ { "database": "UniProtKB", "id": "P12644", "url": "https://www.uniprot.org/uniprot/P12644" } ], "pmid": "" }, { "name": "negative regulation of branching involved in ureteric bud morphogenesis", "id": "GO:0090191", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090191", "evidence": [ { "database": "UniProtKB", "id": "P12644", "url": "https://www.uniprot.org/uniprot/P12644" } ], "pmid": "" }, { "name": "negative regulation of glomerulus development", "id": "GO:0090194", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090194", "evidence": [ { "database": "UniProtKB", "id": "P12644", "url": "https://www.uniprot.org/uniprot/P12644" } ], "pmid": "" }, { "name": "negative regulation of metanephric S-shaped body morphogenesis", "id": "GO:2000005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000005", "evidence": [ { "database": "UniProtKB", "id": "P12644", "url": "https://www.uniprot.org/uniprot/P12644" } ], "pmid": "" }, { "name": "negative regulation of metanephric comma-shaped body morphogenesis", "id": "GO:2000007", 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