{ "uniprot_canonical_ac": "P12645-1", "uniprot_ac": "P12645", "uniprot_id": "BMP3_HUMAN", "mass": { "chemical_mass": 53372.0, "monoisotopic_mass": 53372.0 }, "refseq": { "ac": "NP_001192", "name": "bone morphogenetic protein 3 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 suppresses osteoblast differentiation, and negatively regulates bone density, by modulating TGF-beta receptor availability to other ligands. [provided by RefSeq, Jul 2016].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001192" }, "gene_names": [ { "name": "BMP3", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P12645", "id": "P12645" }, { "name": "BMP-3A", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001192", "id": "NP_001192" }, { "name": "BMP3A", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P12645", "id": "P12645" }, { "name": "BMP3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001192", "id": "NP_001192" } ], "protein_names": [ { "name": "Bone morphogenetic protein 3", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P12645" }, { "name": "BMP-3A", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P12645" }, { "name": "BMP-3", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P12645" }, { "name": "Bone morphogenetic protein 3A", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P12645" }, { "name": "Osteogenin", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P12645" }, { "name": "bone morphogenetic protein 3 (osteogenic); osteogenin; bone morphogenetic protein 3A", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001192", "id": "NP_001192" }, { "name": "bone morphogenetic protein 3 preproprotein", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001192", "id": "NP_001192" } ], "function": [ { "annotation": "Growth factor of the TGF-beta superfamily that plays an essential role in developmental process by inducing and patterning early skeletal formation and by negatively regulating bone density. Antagonizes the ability of certain osteogenic BMPs to induce osteoprogenitor differentiation and ossification (PubMed:11138004, PubMed:15269709). Initiates signaling cascades by associating with type II receptor ACVR2B to activate SMAD2-dependent and SMAD-independent signaling cascades including TAK1 and JNK pathways (PubMed:31665064).", "evidence": [ { "database": "UniProtKB", "id": "P12645", "url": "https://www.uniprot.org/uniprot/P12645#function" }, { "database": "PubMed", "id": "11138004", "url": "https://glygen.org/publication/PubMed/11138004" }, { "database": "PubMed", "id": "15269709", "url": "https://glygen.org/publication/PubMed/15269709" }, { "database": "PubMed", "id": "31665064", "url": "https://glygen.org/publication/PubMed/31665064" } ] }, { "annotation": "Inhibition of BMP3 increases the inflammatory response of fibroblast-like synoviocytes in rheumatoid arthritis.", "evidence": [ { "database": "RefSeq", "id": "NP_001192", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001192" }, { "database": "PubMed", "id": "32568738", "url": "https://glygen.org/publication/PubMed/32568738" } ] }, { "annotation": "LncRNA SNHG3 regulates the BMSC osteogenic differentiation in bone metastasis of breast cancer by modulating the miR-1273g-3p/BMP3 axis.", "evidence": [ { "database": "RefSeq", "id": "NP_001192", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001192" }, { "database": "PubMed", "id": "35081500", "url": "https://glygen.org/publication/PubMed/35081500" } ] }, { "annotation": "Overexpression of lncRNA A2M-AS1 inhibits cell growth and aggressiveness via regulating the miR-587/bone morphogenetic protein 3 axis in lung adenocarcinoma.", "evidence": [ { "database": "RefSeq", "id": "NP_001192", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001192" }, { "database": "PubMed", "id": "36461613", "url": "https://glygen.org/publication/PubMed/36461613" } ] }, { "annotation": "Results found that BMP3 gene was extensively hypermethylated and downregulated in colorectal cancer (CRC) and suggest that BMP3 acts as a tumor suppressor or has a growth rate-limiting role in CRC development and progression. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001192", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001192" }, { "database": "PubMed", "id": "31665064", "url": "https://glygen.org/publication/PubMed/31665064" } ] }, { "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 suppresses osteoblast differentiation, and negatively regulates bone density, by modulating TGF-beta receptor availability to other ligands. [provided by RefSeq, Jul 2016].", "evidence": [ { "database": "RefSeq", "id": "NP_001192", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001192" } ] }, { "annotation": "USF2 reduces BMP3 expression via transcriptional activation of miR-34a, thus promoting osteogenic differentiation of BMSCs.", "evidence": [ { "database": "RefSeq", "id": "NP_001192", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001192" }, { "database": "PubMed", "id": "34350522", "url": "https://glygen.org/publication/PubMed/34350522" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "rs1171024220", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1171024220" }, { "id": "rs1171024220", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1171024220" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 346, "end_pos": 346, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SQT->NQT); o-glyco-site-loss (S->N).", "chr_id": "4", "chr_pos": "81046458", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S346", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs761509414", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761509414" }, { "id": "rs761509414", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761509414" }, { "id": "rs761509414", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs761509414#frequency_tab" }, { "id": "rs761509414", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs761509414" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 117, "end_pos": 117, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NLT->SLT).", "chr_id": "4", "chr_pos": "81045771", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N117", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1198305199", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1198305199" }, { "id": "rs1198305199", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1198305199" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 119, "end_pos": 119, "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NLT->NLA).", "chr_id": "4", "chr_pos": "81045776", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T119", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1316736469", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1316736469" }, { "id": "rs1316736469", "database": "TOPMed", "url": 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"minor_allelic_frequency": "", "site_lbl": "D164", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1283903146", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1283903146" }, { "id": "rs1283903146", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1283903146" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 175, "end_pos": 175, "sequence_org": "N", "sequence_mut": "I", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NQS->IQS).", "chr_id": "4", "chr_pos": "81045945", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N175", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs781318646", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781318646" }, { "id": "rs781318646", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781318646" }, { "id": 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"N175", "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", 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"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" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs922553725", "database": "dbSNP", "url": 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"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", 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"resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "P12645", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P12645" } ], "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": 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"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 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"" }, { "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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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P12645" } ], "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": "down", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ 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"glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 117, "start_aa": "Asn", "end_pos": 117, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn117", "evidence": [ { "id": "P12645", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P12645#ptm_processing" }, { "id": "24190977", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24190977" }, { "id": "GLY_000143", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000143" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 141, "start_aa": "Asn", "end_pos": 141, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn141", "evidence": [ { "id": "P12645", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P12645#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 175, "start_aa": "Asn", "end_pos": 175, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn175", "evidence": [ { "id": "P12645", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P12645#ptm_processing" }, { "id": "24190977", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24190977" }, { "id": "GLY_000143", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000143" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 220, "start_aa": "Asn", "end_pos": 220, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn220", "evidence": [ { "id": "P12645", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P12645#ptm_processing" } ] }, { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "NFPTGTVPK", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "start_pos": 264, "start_aa": "Asn", "end_pos": 272, "end_aa": "Lys", "evidence": [ { "id": "P12645", "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" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 346, "start_aa": "Ser", "end_pos": 346, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser346", "evidence": [ { "id": "P12645", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P12645" }, { "id": "35254053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35254053" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 463, "start_aa": "Asn", "end_pos": 463, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn463", "evidence": [ { "id": "P12645", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P12645#ptm_processing" }, { "id": "24190977", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24190977" }, { "id": "GLY_000143", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000143" } ] }, { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "LYDRYSTVQAAR", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "start_pos": 63, "start_aa": "Leu", "end_pos": 74, "end_aa": "Arg", "evidence": [ { "id": "P12645", "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" } ] }, { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "start_pos": 68, "start_aa": "Ser", "end_pos": 68, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser68", "evidence": [ { "id": "P12645", "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" } ] }, { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "start_pos": 69, "start_aa": "Thr", "end_pos": 69, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr69", "evidence": [ { "id": "P12645", "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" } ] }, { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "start_pos": 75, "start_aa": "Thr", "end_pos": 75, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr75", "evidence": [ { "id": "P12645", "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" } ] }, { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "TPGSLEGGSQPWRPR", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "start_pos": 75, "start_aa": "Thr", "end_pos": 89, "end_aa": "Arg", "evidence": [ { "id": "P12645", "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" } ] }, { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "start_pos": 83, "start_aa": "Ser", "end_pos": 83, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser83", "evidence": [ { "id": "P12645", "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": [], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan", "glycoprotein_predicted", "glycoprotein_reported" ], "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": "P12645", "url": "" } ], "reference": [ { "type": "DOI", "id": "10.1038/emboj.2013.79", "url": "https://glygen.org/publication/DOI/10.1038/emboj.2013.79" } ] }, { "title": "Bone morphogenetic protein-3 is a negative regulator of bone density.", "journal": "Nature genetics", "date": "2001-01", "authors": "Daluiski A, Engstrand T, Bahamonde M E, Gamer L W, Agius E, Stevenson S L, Cox K, Rosen V, Lyons K M", "evidence": [ { "database": "UniProtKB", "id": "P12645", "url": "https://www.uniprot.org/uniprot/P12645" } ], "reference": [ { "type": "PubMed", "id": "11138004", "url": "https://glygen.org/publication/PubMed/11138004" } ] }, { "title": "BMP signaling components are expressed in human fracture callus.", "journal": "Bone", "date": "2003", "authors": "Kloen P, Di Paola M, Borens O, Richmond J, Perino G, Helfet D L, Goumans M J", "evidence": [ { "database": "UniProtKB", "id": "P12645", "url": "https://www.uniprot.org/uniprot/P12645" } ], "reference": [ { "type": "PubMed", "id": "13678778", "url": "https://glygen.org/publication/PubMed/13678778" } ] }, { "title": "Characterization of the distinct orthotopic bone-forming activity of 14 BMPs using recombinant adenovirus-mediated gene delivery.", "journal": "Gene therapy", "date": "2004-09", "authors": "Kang Q, Sun M H, Cheng H, Peng Y, Montag A G, Deyrup A T, Jiang W, Luu H H, Luo J, Szatkowski J P, Vanichakarn P, Park J Y, Li Y, Haydon R C, He T-C", "evidence": [ { "database": "UniProtKB", "id": "P12645", "url": "https://www.uniprot.org/uniprot/P12645" } ], "reference": [ { "type": "PubMed", "id": "15269709", "url": "https://glygen.org/publication/PubMed/15269709" } ] }, { "title": "Expression of bone morphogenetic proteins, receptors, and tissue inhibitors in human fetal, adult, and osteoarthritic articular cartilage.", "journal": "J. Orthop. Res.", "date": "2004", "authors": "Chen Andrew L, Fang Carrie, Liu Chuanju, Leslie Michael P, Chang Eric, Di Cesare Paul E", "evidence": [ { "database": "UniProtKB", "id": "P12645", "url": "https://www.uniprot.org/uniprot/P12645" } ], "reference": [ { "type": "PubMed", "id": "15475196", "url": "https://glygen.org/publication/PubMed/15475196" } ] }, { "title": "BMP-3 and BMP-6 structures illuminate the nature of binding specificity with receptors.", "journal": "Biochemistry", "date": "2007", "authors": "Allendorph GP, Isaacs MJ, Kawakami Y, Izpisua Belmonte JC, Choe S", "evidence": [ { "database": "UniProtKB", "id": "P12645", "url": "https://www.uniprot.org/uniprot/P12645" } ], "reference": [ { "type": "PubMed", "id": "17924656", "url": "https://glygen.org/publication/PubMed/17924656" } ] }, { "title": "Exome sequencing identifies recurrent somatic RAC1 mutations in melanoma.", "journal": "Nature genetics", "date": "2012", "authors": "Krauthammer M, Kong Y, Ha BH, Evans P, Bacchiocchi A, McCusker JP, Cheng E, Davis MJ, Goh G, Choi M, Ariyan S, Narayan D, Dutton-Regester K, Capatana A, Holman EC, Bosenberg M, Sznol M, Kluger HM, Brash DE, Stern DF, Materin MA, Lo RS, Mane S, Ma S, Kidd KK, Hayward NK, Lifton RP, Schlessinger J, Boggon TJ, Halaban R", "evidence": [ { "database": "dbSNP", "id": "rs866813886", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs866813886" } ], "reference": [ { "type": "PubMed", "id": "22842228", "url": "https://glygen.org/publication/PubMed/22842228" } ] }, { "title": "Precision mapping of the human O-GalNAc glycoproteome through SimpleCell technology.", "journal": "The EMBO journal", "date": "2013", "authors": "Steentoft C, Vakhrushev SY, Joshi HJ, Kong Y, Vester-Christensen MB, Schjoldager KT, Lavrsen K, Dabelsteen S, Pedersen NB, Marcos-Silva L, Gupta R, Bennett EP, Mandel U, Brunak S, Wandall HH, Levery SB, Clausen H", "evidence": [ { "database": "UniCarbKB", "id": "P12645", "url": "" } ], "reference": [ { "type": "PubMed", "id": "23584533", "url": "https://glygen.org/publication/PubMed/23584533" } ] }, { "title": "N-linked glycosylation enrichment for in-depth cell surface proteomics of diffuse large B-cell lymphoma subtypes.", "journal": "Molecular & cellular proteomics : MCP", "date": "2014", "authors": "Deeb SJ, Cox J, Schmidt-Supprian M, Mann M", "evidence": [ { "database": "GlyGen", "id": "GLY_000143", "url": "https://data.glygen.org/GLY_000143" } ], "reference": [ { "type": "PubMed", "id": "24190977", "url": "https://glygen.org/publication/PubMed/24190977" } ] }, { "title": "BMP3 suppresses colon tumorigenesis via ActRIIB/SMAD2-dependent and TAK1/JNK signaling pathways.", "journal": "Journal of experimental & clinical cancer research : CR", "date": "2019", "authors": "Wen J, Liu X, Qi Y, Niu F, Niu Z, Geng W, Zou Z, Huang R, Wang J, Zou H", "evidence": [ { "database": "UniProtKB", "id": "P12645", "url": "https://www.uniprot.org/uniprot/P12645" }, { "database": "RefSeq", "id": "NP_001192", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001192" } ], "reference": [ { "type": "PubMed", "id": "31665064", "url": "https://glygen.org/publication/PubMed/31665064" } ] }, { "title": "Novel regulators of bone formation: molecular clones and activities.", "journal": "Science", "date": "1988", "authors": "Wozney JM, Rosen V, Celeste AJ, Mitsock LM, Whitters MJ, Kriz RW, Hewick RM, Wang EA", "evidence": [ { "database": "UniProtKB", "id": "P12645", "url": "https://www.uniprot.org/uniprot/P12645" } ], "reference": [ { "type": "PubMed", "id": "3201241", "url": "https://glygen.org/publication/PubMed/3201241" } ] }, { "title": "Inhibition of BMP3 increases the inflammatory response of fibroblast-like synoviocytes in rheumatoid arthritis.", "journal": "Aging", "date": "2020", "authors": "Song B, Li X, Xu Q, Yin S, Wu S, Meng X, Huang C, Li J", "evidence": [ { "database": "RefSeq", "id": "NP_001192", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001192" } ], "reference": [ { "type": "PubMed", "id": "32568738", "url": "https://glygen.org/publication/PubMed/32568738" } ] }, { "title": "USF2 reduces BMP3 expression via transcriptional activation of miR-34a, thus promoting osteogenic differentiation of BMSCs.", "journal": "Journal of bone and mineral metabolism", "date": "2021", "authors": "Zeng HB, Dong LQ, Huang YL, Xu C, Zhao XH, Wu LG", "evidence": [ { "database": "RefSeq", "id": "NP_001192", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001192" } ], "reference": [ { "type": "PubMed", "id": "34350522", "url": "https://glygen.org/publication/PubMed/34350522" } ] }, { "title": "LncRNA SNHG3 regulates the BMSC osteogenic differentiation in bone metastasis of breast cancer by modulating the miR-1273g-3p/BMP3 axis.", "journal": "Biochemical and biophysical research communications", "date": "2022", "authors": "Sun Z, Hu J, Ren W, Fang Y, Hu K, Yu H, Liao D, Liu S, Zhou L, He T, Zhang Y", "evidence": [ { "database": "RefSeq", "id": "NP_001192", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001192" } ], "reference": [ { "type": "PubMed", "id": "35081500", "url": "https://glygen.org/publication/PubMed/35081500" } ] }, { "title": "An Optimized Isotopic Photocleavable Tagging Strategy for Site-Specific and Quantitative Profiling of Protein O-GlcNAcylation in Colorectal Cancer Metastasis.", "journal": "ACS chemical biology", "date": "2022", "authors": "Liu J, Hao Y, Wang C, Jin Y, Yang Y, Gu J, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "P12645", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P12645" } ], "reference": [ { "type": "PubMed", "id": "35254053", "url": "https://glygen.org/publication/PubMed/35254053" } ] }, { "title": "Overexpression of lncRNA A2M-AS1 inhibits cell growth and aggressiveness via regulating the miR-587/bone morphogenetic protein 3 axis in lung adenocarcinoma.", "journal": "Human & experimental toxicology", "date": "2022", "authors": "Guo Hongfei, Li Tao, Peng Chunlei, Mao Qinghua, Shen Biao, Shi Minxin, Lu Haimin, Xiao Ting, Yang Aimin, Liu Yupeng", "evidence": [ { "database": "RefSeq", "id": "NP_001192", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001192" } ], "reference": [ { "type": "PubMed", "id": "36461613", "url": "https://glygen.org/publication/PubMed/36461613" } ] } ], "pathway": [ { "id": "hsa:651", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:651", "resource": "KEGG Pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "P49002-1", "protein_name": "Bone morphogenetic protein 3", "gene_name": "Bmp3", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MAGARGLLCLWLGCFCLNLAQGQRPNLHLPGLRGTESSDRMTGGGPSPDLRPHDKVSEHMLWLYDRYSGSNRAQATRTPGSQLPGPQPLRGGNTVRSFRAAAAGTLQRKGLHTFNLTSLTKSENILSATLYFYIGELVNTSVNCPESQGCSHDSQRQHIQIDLSAWTLQSNQSQLLGHLSVDTAKPYRDSMSWLSKDITQLLRKAKQDEEFLIGFNITSRAHELPKRMLLFPEPYILVYANDAAICEPESVVSSLQRHRDFTAGTVPRLDSHVREALSVERRKKRSTGILLPLQNNELPGAEYQYKEAGVWEERKPYKSLQTQPPEKSRSKKKQRKGPHQKGQTLQFDEQTLKKARRKQWIEPRNCARRYLKVDFADIGWSEWIISPKSFDAYYCSGACQFPMPKSLKPSNHATIQSIVRAVGVVSGIPEPCCVPEKMSSLSILFFDENKNVVLKVYPNMTVDSCACR", "length": 468 }, "evidence": [ { "id": "45928951", "url": "http://www.informatics.jax.org/homology/45928951", "database": "MGI" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "Q8BHE5-1", "protein_name": "Bone morphogenetic protein 3", "gene_name": "Bmp3", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MAGARGLLCLWLGYFCLNLAQGQRPNLHLPGLRETEPSDRATGGSPSPDLRPHDKVSEHMLWLYDRYSGSSRVQATRTPGSQLPGPQPLRGGNTVRSFRAAAAGTPQTKGLHTFNLTSLTKSENILSATLYFYVGELVNISLSCPEPQGCSHHTQRQHIQIDLSAWILKSNQSQLLGHLSVDVVRPYRDSVSWLSKDITQLLRKAKQNEEFLIGFNITSRAHELPKRMLFFPEPYILVYANDAAISEPESVVSSLQRHRDFTAGTGPRLDSHVREALSVERRKKRSTGILLPLQNNELPGAEYQYKEEGAWEERKPYKSLQTQPPEKSRNKKKQRKGSHQKGQTLQFDEQTLKKARRKQWVEPRNCARRYLKVDFADIGWSEWIISPKSFDAFYCSGACQFPMPKSLKPSNHATIQSIVRAVGVVSGIPEPCCVPEKMSSLSILFFDENKNVVLKVYPNMTVDSCACR", "length": 468 }, "evidence": [ { "id": "45928951", "url": "http://www.informatics.jax.org/homology/45928951", "database": "MGI" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Molecular Function", "total": 4, "go_terms": [ { "name": "signaling receptor binding", "id": "GO:0005102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005102", "evidence": [ { "database": "UniProtKB", "id": "P12645", "url": "https://www.uniprot.org/uniprot/P12645" } ], "pmid": "" }, { "name": "cytokine activity", "id": "GO:0005125", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005125", "evidence": [ { "database": "UniProtKB", "id": "P12645", "url": "https://www.uniprot.org/uniprot/P12645" } ], "pmid": "" }, { "name": "growth factor activity", "id": "GO:0008083", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008083", "evidence": [ { "database": "UniProtKB", "id": "P12645", "url": "https://www.uniprot.org/uniprot/P12645" } ], "pmid": "" }, { "name": "BMP receptor binding", "id": "GO:0070700", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070700", "evidence": [ { "database": "UniProtKB", "id": "P12645", "url": "https://www.uniprot.org/uniprot/P12645" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 2, "go_terms": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "P12645", "url": "https://www.uniprot.org/uniprot/P12645" } ], "pmid": "" }, { "name": "extracellular exosome", "id": "GO:0070062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070062", "evidence": [ { "database": "UniProtKB", "id": "P12645", "url": "https://www.uniprot.org/uniprot/P12645" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 4, "go_terms": [ { "name": "cell-cell signaling", "id": "GO:0007267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007267", "evidence": [ { "database": "UniProtKB", "id": "P12645", "url": "https://www.uniprot.org/uniprot/P12645" } ], "pmid": "" }, { "name": "skeletal system development", "id": "GO:0001501", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001501", "evidence": [ { "database": "UniProtKB", "id": "P12645", "url": "https://www.uniprot.org/uniprot/P12645" } ], "pmid": "" }, { "name": "osteoblast differentiation", "id": "GO:0001649", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001649", "evidence": [ { "database": "UniProtKB", "id": "P12645", "url": "https://www.uniprot.org/uniprot/P12645" } ], "pmid": "" }, { "name": "cartilage development", "id": "GO:0051216", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051216", "evidence": [ { "database": "UniProtKB", "id": "P12645", "url": "https://www.uniprot.org/uniprot/P12645" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 117, "end_pos": 119, "annotation": "n_glycosylation_sequon" }, { "start_pos": 141, "end_pos": 143, "annotation": "n_glycosylation_sequon" }, { "start_pos": 175, "end_pos": 177, "annotation": "n_glycosylation_sequon" }, { "start_pos": 220, "end_pos": 222, "annotation": "n_glycosylation_sequon" }, { "start_pos": 463, "end_pos": 465, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "homologset.mgi", "label": "MGI Homologs" } ], "sequence_features": { "n_linked_sites": [ 117, 141, 175, 220, 463 ], "o_linked_sites": [ 63, 68, 69, 75, 83, 264, 346 ], "snv_sites": [ 55, 67, 68, 69, 75, 117, 119, 143, 164, 175, 177, 222, 266, 311, 346, 388, 463, 465 ], "glycation_sites": [], "phosphorylation_sites": [], "sequon_annotation_sites": [ { "start_pos": 117, "end_pos": 119 }, { "start_pos": 141, "end_pos": 143 }, { "start_pos": 175, "end_pos": 177 }, { "start_pos": 220, "end_pos": 222 }, { "start_pos": 463, "end_pos": 465 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 13 }, { "field": "total_sites", "count": 11 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 5 }, { "field": "o_linked_glycans", "count": 2 }, { "field": "o_linked_glycan_sites", "count": 6 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 3 }, { "field": "total_sites", "count": 3 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 3 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 8 }, { "field": "total_sites", "count": 6 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 2 }, { "field": "o_linked_glycan_sites", "count": 6 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 2 }, { "field": "total_sites", "count": 2 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 2 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 26 }, { "field": "total_sites", "count": 18 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 5 }, { "field": "total_sites", "count": 5 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 21 }, { "field": "total_sites", "count": 15 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "publication", 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