{ "uniprot_canonical_ac": "O43541-1", "uniprot_ac": "O43541", "uniprot_id": "SMAD6_HUMAN", "mass": { "chemical_mass": 53497.0, "monoisotopic_mass": 53497.0 }, "refseq": { "ac": "NP_005576", "name": "mothers against decapentaplegic homolog 6", "summary": "The protein encoded by this gene belongs to the SMAD family of proteins, which are related to Drosophila 'mothers against decapentaplegic' (Mad) and C. elegans Sma. SMAD proteins are signal transducers and transcriptional modulators that mediate multiple signaling pathways. This protein functions in the negative regulation of BMP and TGF-beta/activin-signalling. Multiple transcript variants have been found for this gene.[provided by RefSeq, Sep 2014].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005576" }, "gene_names": [ { "name": "SMAD6", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O43541", "id": "O43541" }, { "name": "AOVD2; HsT17432; MADH6; MADH7", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005576", "id": "NP_005576" }, { "name": "MADH6", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O43541", "id": "O43541" }, { "name": "SMAD6", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005576", "id": "NP_005576" } ], "protein_names": [ { "name": "Mothers against decapentaplegic homolog 6", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O43541" }, { "name": "MAD homolog 6; SMAD, mothers against DPP homolog 6; mothers against decapentaplegic, drosophila, homolog of, 6", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005576", "id": "NP_005576" }, { "name": "MAD homolog 6", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43541" }, { "name": "Mothers against DPP homolog 6", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43541" }, { "name": "SMAD 6", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43541" }, { "name": "SMAD family member 6", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43541" }, { "name": "Smad6", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43541" }, { "name": "hSMAD6", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43541" }, { "name": "mothers against decapentaplegic homolog 6", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005576", "id": "NP_005576" } ], "function": [ { "annotation": "Assessing the prevalence of S-shaped root canal and associated genes in humans.", "evidence": [ { "database": "RefSeq", "id": "NP_005576", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005576" }, { "database": "PubMed", "id": "35787440", "url": "https://glygen.org/publication/PubMed/35787440" } ] }, { "annotation": "Down-regulation of hsa-circ-0107593 promotes osteogenic differentiation of hADSCs via miR-20a-5p/SMAD6 signaling.", "evidence": [ { "database": "RefSeq", "id": "NP_005576", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005576" }, { "database": "PubMed", "id": "35957556", "url": "https://glygen.org/publication/PubMed/35957556" } ] }, { "annotation": "Endothelial cell SMAD6 balances Alk1 function to regulate adherens junctions and hepatic vascular development.", "evidence": [ { "database": "RefSeq", "id": "NP_005576", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005576" }, { "database": "PubMed", "id": "37787089", "url": "https://glygen.org/publication/PubMed/37787089" } ] }, { "annotation": "MiR-20a-5p regulated SMAD6 to inhibit chondrogenesis of hDPSCs.", "evidence": [ { "database": "RefSeq", "id": "NP_005576", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005576" }, { "database": "PubMed", "id": "35917232", "url": "https://glygen.org/publication/PubMed/35917232" } ] }, { "annotation": "Splice variant Smad6B, in human prostatic and rodent testicular cell lines, exhibits a truncated C-terminus lacking the entire MH-2 domain and most parts of the linker region.", "evidence": [ { "database": "RefSeq", "id": "NP_005576", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005576" }, { "database": "PubMed", "id": "19032685", "url": "https://glygen.org/publication/PubMed/19032685" } ] }, { "annotation": "The protein encoded by this gene belongs to the SMAD family of proteins, which are related to Drosophila 'mothers against decapentaplegic' (Mad) and C. elegans Sma. SMAD proteins are signal transducers and transcriptional modulators that mediate multiple signaling pathways. This protein functions in the negative regulation of BMP and TGF-beta/activin-signalling. Multiple transcript variants have been found for this gene.[provided by RefSeq, Sep 2014].", "evidence": [ { "database": "RefSeq", "id": "NP_005576", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005576" } ] }, { "annotation": "Transforming growth factor-beta superfamily receptors signaling occurs through the Smad family of intracellular mediators. SMAD6 is an inhibitory Smad (i-Smad) that negatively regulates signaling downstream of type I transforming growth factor-beta (PubMed:9436979, PubMed:16951688, PubMed:22275001, PubMed:9759503, PubMed:10647776, PubMed:10708948, PubMed:10708949, PubMed:30848080). Acts as a mediator of TGF-beta and BMP anti-inflammatory activities. Suppresses IL1R-TLR signaling through its direct interaction with PEL1, preventing NF-kappa-B activation, nuclear transport and NF-kappa-B-mediated expression of pro-inflammatory genes (PubMed:16951688). Blocks the BMP-SMAD1 signaling pathway by competing with SMAD4 for receptor-activated SMAD1-binding (PubMed:9436979, PubMed:30848080). Binds to regulatory elements in target promoter regions (PubMed:16491121).", "evidence": [ { "database": "UniProtKB", "id": "O43541", "url": "https://www.uniprot.org/uniprot/O43541#function" }, { "database": "PubMed", "id": "22275001", "url": "https://glygen.org/publication/PubMed/22275001" }, { "database": "PubMed", "id": "16491121", "url": "https://glygen.org/publication/PubMed/16491121" }, { "database": "PubMed", "id": "9436979", "url": "https://glygen.org/publication/PubMed/9436979" }, { "database": "PubMed", "id": "16951688", "url": "https://glygen.org/publication/PubMed/16951688" }, { "database": "PubMed", "id": "10708949", "url": "https://glygen.org/publication/PubMed/10708949" }, { "database": "PubMed", "id": "10647776", "url": "https://glygen.org/publication/PubMed/10647776" }, { "database": "PubMed", "id": "10708948", "url": "https://glygen.org/publication/PubMed/10708948" }, { "database": "PubMed", "id": "9759503", "url": "https://glygen.org/publication/PubMed/9759503" }, { "database": "PubMed", "id": "30848080", "url": "https://glygen.org/publication/PubMed/30848080" } ] } ], "disease": [ { "disease_id": "DOID:0060912", "recommended_name": { "id": "DOID:0060912", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060912", "name": "craniosynostosis 7", "description": "A craniosynostosis characterized by skull deformity and the inability of the skull's growth to keep up with the developing brain that has_material_basis_in a weakly penetrant heterozygous mutation in the SMAD6 gene on chromosome 15q22, typically with the risk allele of a common variant near the BMP2 gene on chromosome 20p12, resulting in potential intracranial pressure elevation." }, "synonyms": [ { "id": "DOID:0060912", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060912", "name": "CRS7", "description": "" }, { "id": "MONDO:0044315", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044315", "name": "craniosynostosis 7", "description": "Craniosynostosis is a primary abnormality of skull growth involving premature fusion of the cranial sutures such that the growth velocity of the skull often cannot match that of the developing brain. This produces skull deformity and, in some cases, raises intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability (summary by {1:Fitzpatrick, 2013}).nnFor a discussion of genetic heterogeneity of craniosynostosis, see CRS1 (OMIM:123100)." }, { "id": "MONDO:0044315", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044315", "name": "craniosynostosis 7", "description": "" }, { "id": "MONDO:0044315", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044315", "name": "craniosynostosis 7, susceptibility to", "description": "" }, { "id": "MONDO:0044315", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044315", "name": "CRS7", "description": "" }, { "id": "MONDO:0044315", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044315", "name": "Crs7, digenic", "description": "" }, { "id": "MONDO:0044315", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044315", "name": "craniosynostosis 7, digenic", "description": "" }, { "id": "MIM:617439", "resource": "MIM", "url": "https://www.omim.org/entry/617439", "name": "Craniosynostosis 7", "description": "Craniosynostosis 7" } ], "evidence": [ { "id": "617439", "database": "MIM", "url": "https://www.omim.org/entry/617439" } ] }, { "disease_id": "DOID:0080334", "recommended_name": { "id": "DOID:0080334", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080334", "name": "aortic valve disease 2", "description": "A bicuspid aortic valve disease that has_material_basis_in heterozygous mutation in the SMAD6 gene on chromosome 15q22." }, "synonyms": [ { "id": "MONDO:0013902", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013902", "name": "aortic valve disease 2", "description": "Any aortic valve disease in which the cause of the disease is a mutation in the SMAD6 gene." }, { "id": "MONDO:0013902", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013902", "name": "SMAD6 aortic valve disease", "description": "" }, { "id": "MONDO:0013902", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013902", "name": "aortic valve disease 2", "description": "" }, { "id": "MONDO:0013902", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013902", "name": "aortic valve disease caused by mutation in SMAD6", "description": "" }, { "id": "MONDO:0013902", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013902", "name": "aortic valve disease type 2", "description": "" }, { "id": "MONDO:0013902", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013902", "name": "AOVD2", "description": "" }, { "id": "MONDO:0013902", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013902", "name": "aortic valve stenosis", "description": "" }, { "id": "MONDO:0013902", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013902", "name": "bicuspid aortic valve", "description": "" }, { "id": "MIM:614823", "resource": "MIM", "url": "https://www.omim.org/entry/614823", "name": "Aortic valve disease 2", "description": "Aortic valve disease 2" } ], "evidence": [ { "id": "614823", "database": "MIM", "url": "https://www.omim.org/entry/614823" } ] }, { "disease_id": "DOID:9827", "recommended_name": { "id": "DOID:9827", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9827", "name": "radioulnar synostosis", "description": "" }, "synonyms": [ { "id": "MONDO:0100183", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100183", "name": "radioulnar synostosis, nonsyndromic, susceptibility to", "description": "A susceptibility or predisposition to radioulnar synostosis in which the cause of the disease is a mutation in the SMAD6 gene." }, { "id": "MIM:179300", "resource": "MIM", "url": "https://www.omim.org/entry/179300", "name": "Radioulnar synostosis, non-syndromic", "description": "Radioulnar synostosis, non-syndromic" } ], "evidence": [ { "id": "179300", "database": "MIM", "url": "https://www.omim.org/entry/179300" } ] } ], "snv": [ { "evidence": [ { "id": "rs1555434295", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1555434295" }, { "id": "rs1555434295", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1555434295" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 265, "end_pos": 265, "sequence_org": "H", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (HFS->NFS).", "chr_id": "15", "chr_pos": "66704051", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H265", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs773338089", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773338089" }, { "id": "rs773338089", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773338089" }, { "id": "rs773338089", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs773338089" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 295, "end_pos": 295, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DST->NST).", "chr_id": "15", "chr_pos": "66716429", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D295", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs773308777", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773308777" }, { "id": "rs773308777", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773308777" }, { "id": "rs773308777", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs773308777#frequency_tab" }, { "id": "rs773308777", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs773308777" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 36, "end_pos": 36, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DGS->NGS).", "chr_id": "15", "chr_pos": "66703364", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D36", "disease": [ { "disease_id": "DOID:0080334", "recommended_name": { "id": "DOID:0080334", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080334", "name": "aortic valve disease 2", "description": "A bicuspid aortic valve disease that has_material_basis_in heterozygous mutation in the SMAD6 gene on chromosome 15q22." }, "synonyms": [ { "id": "MONDO:0013902", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013902", "name": "aortic valve disease 2", "description": "Any aortic valve disease in which the cause of the disease is a mutation in the SMAD6 gene." }, { "id": "MONDO:0013902", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013902", "name": "SMAD6 aortic valve disease", "description": "" }, { "id": "MONDO:0013902", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013902", "name": "aortic valve disease 2", "description": "" }, { "id": "MONDO:0013902", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013902", "name": "aortic valve disease caused by mutation in SMAD6", "description": "" }, { "id": "MONDO:0013902", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013902", "name": "aortic valve disease type 2", "description": "" }, { "id": "MONDO:0013902", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013902", "name": "AOVD2", "description": "" }, { "id": "MONDO:0013902", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013902", "name": "aortic valve stenosis", "description": "" }, { "id": "MONDO:0013902", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013902", "name": "bicuspid aortic valve", "description": "" }, { "id": "MIM:614823", "resource": "MIM", "url": "https://www.omim.org/entry/614823", "name": "Aortic valve disease 2", "description": "Aortic valve disease 2" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs755831442", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755831442" }, { "id": "rs755831442", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755831442" }, { "id": "rs755831442", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs755831442#frequency_tab" }, { "id": "rs755831442", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs755831442" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 385, "end_pos": 385, "sequence_org": "S", "sequence_mut": "G", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->G).", "chr_id": "15", "chr_pos": "66781197", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S385", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1555440093", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1555440093" }, { "id": "rs1555440093", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1555440093" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 385, "end_pos": 385, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->N).", "chr_id": "15", "chr_pos": "66781198", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S385", "disease": [ { "disease_id": "DOID:0070237", "recommended_name": { "id": "DOID:0070237", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070237", "name": "Loeys-Dietz syndrome 3", "description": "A Loeys-Dietz syndrome that has_material_basis_in heterozygous mutation in the SMAD3 gene on chromosome 15q." }, "synonyms": [ { "id": "DOID:0070237", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070237", "name": "LDS1C", "description": "" }, { "id": "DOID:0070237", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070237", "name": "LDS3", "description": "" }, { "id": "DOID:0070237", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070237", "name": "Loeys-Dietz syndrome type 1C", "description": "" }, { "id": "DOID:0070237", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070237", "name": "Loeys-Dietz syndrome with osteoarthritis", "description": "" }, { "id": "DOID:0070237", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070237", "name": "aneurysms-osteoarthritis syndrome", "description": "" }, { "id": "MONDO:0013426", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013426", "name": "aneurysm-osteoarthritis syndrome", "description": "" }, { "id": "MONDO:0013426", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013426", "name": "Loeys-Dietz syndrome type 3", "description": "" }, { "id": "MONDO:0013426", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013426", "name": "aneurysm-osteoarthritis syndrome", "description": "" }, { "id": "MONDO:0013426", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013426", "name": "LDS3", "description": "" }, { "id": "MONDO:0013426", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013426", "name": "Loeys-Dietz syndrome 3", "description": "" }, { "id": "MONDO:0013426", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013426", "name": "Loeys-Dietz syndrome with osteoarthritis", "description": "" }, { "id": "MONDO:0013426", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013426", "name": "Loeys-Dietz syndrome, type 1C", "description": "" }, { "id": "MONDO:0013426", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013426", "name": "Loeys-Dietz syndrome, type 1C (formerly)", "description": "" }, { "id": "MONDO:0013426", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013426", "name": "Loeys-Dietz syndrome, type 1C, formerly", "description": "" }, { "id": "MONDO:0013426", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013426", "name": "Loeys-Dietz syndrome, type 3", "description": "" }, { "id": "MONDO:0013426", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013426", "name": "aneurysm - osteoarthritis syndrome", "description": "" }, { "id": "MONDO:0013426", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013426", "name": "aneurysms-osteoarthritis syndrome", "description": "" }, { "id": "MIM:613795", "resource": "MIM", "url": "https://www.omim.org/entry/613795", "name": "Loeys-Dietz syndrome 3", "description": "Loeys-Dietz syndrome 3" } ] }, { "disease_id": "DOID:0080334", "recommended_name": { "id": "DOID:0080334", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080334", "name": "aortic valve disease 2", "description": "A bicuspid aortic valve disease that has_material_basis_in heterozygous mutation in the SMAD6 gene on chromosome 15q22." }, "synonyms": [ { "id": "MONDO:0013902", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013902", "name": "aortic valve disease 2", "description": "Any aortic valve disease in which the cause of the disease is a mutation in the SMAD6 gene." }, { "id": "MONDO:0013902", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013902", "name": "SMAD6 aortic valve disease", "description": "" }, { "id": "MONDO:0013902", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013902", "name": "aortic valve disease 2", "description": "" }, { "id": "MONDO:0013902", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013902", "name": "aortic valve disease caused by mutation in SMAD6", "description": "" }, { "id": "MONDO:0013902", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013902", "name": "aortic valve disease type 2", "description": "" }, { "id": "MONDO:0013902", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013902", "name": "AOVD2", "description": "" }, { "id": "MONDO:0013902", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013902", "name": "aortic valve stenosis", "description": "" }, { "id": "MONDO:0013902", "resource": "MONDO", 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}, { "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": "Yes", "trend": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O43541", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43541" } ], "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", 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"https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "No", "trend": "down", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "O43541", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43541" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": 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"MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": 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"https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "O43541", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43541" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "O43541", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43541" } ], "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "O43541", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43541" } ], "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "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": "O43541", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43541" } ], "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", "url": "http://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "O43541", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43541" } ], "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": "Yes", "trend": "down", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "O43541", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43541" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ] } ] }, { "significant": "No", "trend": "up", "name": "Uterine cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:363", "evidence": [ { "database": "BioXpress", "id": "O43541", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43541" } ], "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": "" } ] } ] }, { "significant": "No", "trend": "down", "name": "Esophageal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:5041", "evidence": [ { "database": "BioXpress", "id": "O43541", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43541" } ], "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", 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"OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR13703", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR13703", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR13703:SF28", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR13703:SF28", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF03165", "url": "http://pfam.xfam.org/family/PF03165", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF03166", "url": "http://pfam.xfam.org/family/PF03166", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "O43541", "url": "https://pharos.nih.gov/targets/O43541", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_O43541", "url": "http://purl.obolibrary.org/obo/PR_O43541", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-201451", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-201451", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-8941326", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8941326", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_005576", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005576", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "H0YK80", "url": "https://www.uniprot.org/uniprot/H0YK80", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YK80-1", "url": "https://www.uniprot.org/uniprot/H0YK80-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YM33", "url": "https://www.uniprot.org/uniprot/H0YM33", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YM33-1", "url": "https://www.uniprot.org/uniprot/H0YM33-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O43541", "url": "https://www.uniprot.org/uniprot/O43541", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O43541-1", "url": "https://www.uniprot.org/uniprot/O43541-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O43541-2", "url": "https://www.uniprot.org/uniprot/O43541-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O43541-4", "url": "https://www.uniprot.org/uniprot/O43541-4", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MFRSKRSGLVRRLWRSRVVPDREEGGSGGGGGGDEDGSLGSRAEPAPRAREGGGCGRSEVRPVAPRRPRDAVGQRGAQGAGRRRRAGGPPRPMSEPGAGAGSSLLDVAEPGGPGWLPESDCETVTCCLFSERDAAGAPRDASDPLAGAALEPAGGGRSREARSRLLLLEQELKTVTYSLLKRLKERSLDTLLEAVESRGGVPGGCVLVPRADLRLGGQPAPPQLLLGRLFRWPDLQHAVELKPLCGCHSFAAAADGPTVCCNPYHFSRLCGPESPPPPYSRLSPRDEYKPLDLSDSTLSYTETEATNSLITAPGEFSDASMSPDATKPSHWCSVAYWEHRTRVGRLYAVYDQAVSIFYDLPQGSGFCLGQLNLEQRSESVRRTRSKIGFGILLSKEPDGVWAYNRGEHPIFVNSPTLDAPGGRALVVRKVPPGYSIKVFDFERSGLQHAPEPDAADGPYDPNSVRISFAKGWGPCYSRQFITSCPCWLEILLNNPR", "length": 496, "header": "sp|O43541-1|SMAD6_HUMAN Isoform 1 of Mothers against decapentaplegic homolog 6 OS=Homo sapiens OX=9606 GN=SMAD6 PE=1 SV=2 CANONICAL=O43541-1" }, "isoforms": [ { "isoform_ac": "H0YK80-1", "url": "", "sequence": { "sequence": "SPRDEYKPLDLSDSTLSYTETEATNSLITAPGEFSADAGIGSRGNRGLESSVPCS", "length": 55, "header": "tr|H0YK80-1|SMAD6_HUMAN Computationally mapped isoform of Mothers against decapentaplegic homolog 6 OS=Homo sapiens OX=9606 GN=SMAD6 PE=1 SV=2 CANONICAL=O43541-1" }, "locus": { "chromosome": "15", "start_pos": 66717070, "end_pos": 66711697, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000558937.1", "url": "https://www.ensembl.org/id/ENST00000558937.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000452694.1", "url": "https://www.ensembl.org/id/ENSP00000452694.1" } ] } }, { "isoform_ac": "H0YM33-1", "url": "", "sequence": { "sequence": "PPPYSRLSPRDEYKPLDLSDSTLSYTETEATNSLITAPGEFSADAGIGSRGNRGLESSVPCS", "length": 62, "header": "tr|H0YM33-1|H0YM33_HUMAN Computationally mapped isoform of SMAD family member 6 OS=Homo sapiens OX=9606 GN=SMAD6 PE=4 SV=2 CANONICAL=O43541-1" }, "locus": { "chromosome": "15", "start_pos": 66717070, "end_pos": 66711676, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000559931.5", "url": "https://www.ensembl.org/id/ENST00000559931.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000453446.1", "url": "https://www.ensembl.org/id/ENSP00000453446.1" } ] } }, { "isoform_ac": "O43541-1", "url": "", "sequence": { "sequence": "MFRSKRSGLVRRLWRSRVVPDREEGGSGGGGGGDEDGSLGSRAEPAPRAREGGGCGRSEVRPVAPRRPRDAVGQRGAQGAGRRRRAGGPPRPMSEPGAGAGSSLLDVAEPGGPGWLPESDCETVTCCLFSERDAAGAPRDASDPLAGAALEPAGGGRSREARSRLLLLEQELKTVTYSLLKRLKERSLDTLLEAVESRGGVPGGCVLVPRADLRLGGQPAPPQLLLGRLFRWPDLQHAVELKPLCGCHSFAAAADGPTVCCNPYHFSRLCGPESPPPPYSRLSPRDEYKPLDLSDSTLSYTETEATNSLITAPGEFSDASMSPDATKPSHWCSVAYWEHRTRVGRLYAVYDQAVSIFYDLPQGSGFCLGQLNLEQRSESVRRTRSKIGFGILLSKEPDGVWAYNRGEHPIFVNSPTLDAPGGRALVVRKVPPGYSIKVFDFERSGLQHAPEPDAADGPYDPNSVRISFAKGWGPCYSRQFITSCPCWLEILLNNPR", "length": 496, "header": "sp|O43541-1|SMAD6_HUMAN Isoform 1 of Mothers against decapentaplegic homolog 6 OS=Homo sapiens OX=9606 GN=SMAD6 PE=1 SV=2 CANONICAL=O43541-1" }, "locus": { "chromosome": "15", "start_pos": 66781532, "end_pos": 66703259, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000288840.10", "url": "https://www.ensembl.org/id/ENST00000288840.10" }, { "database": "Ensembl Peptide", "id": "ENSP00000288840.5", "url": "https://www.ensembl.org/id/ENSP00000288840.5" } ] } }, { "isoform_ac": "O43541-2", "url": "", "sequence": { "sequence": "MSRMGKPIETQKSPPPPYSRLSPRDEYKPLDLSDSTLSYTETEATNSLITAPGEFSDASMSPDATKPSHWCSVAYWEHRTRVGRLYAVYDQAVSIFYDLPQGSGFCLGQLNLEQRSESVRRTRSKIGFGILLSKEPDGVWAYNRGEHPIFVNSPTLDAPGGRALVVRKVPPGYSIKVFDFERSGLQHAPEPDAADGPYDPNSVRISFAKGWGPCYSRQFITSCPCWLEILLNNPR", "length": 235, "header": "sp|O43541-2|SMAD6_HUMAN Isoform 2 of Mothers against decapentaplegic homolog 6 OS=Homo sapiens OX=9606 GN=SMAD6 PE=1 SV=2 CANONICAL=O43541-1" }, "locus": {} }, { "isoform_ac": "O43541-4", "url": "", "sequence": { "sequence": "MFRSKRSGLVRRLWRSRVVPDREEGGSGGGGGGDEDGSLGSRAEPAPRAREGGGCGRSEVRPVAPRRPRDAVGQRGAQGAGRRRRAGGPPRPMSEPGAGAGSSLLDVAEPGGPGWLPESDCETVTCCLFSERDAAGAPRDASDPLAGAALEPAGGGRSREARSRLLLLEQELKTVTYSLLKRLKERSLDTLLEAVESRGGVPGGCVLVPRADLRLGGQPAPPQLLLGRLFRWPDLQHAVELKPLCGCHSFAAAADGPTVCCNPYHFSRLCGPESPPPPYSRLSPRDEYKPLDLSDSTLSYTETEATNSLITAPGEFSAADAGIGSRGNRGLESSVPCS", "length": 338, "header": "sp|O43541-4|SMAD6_HUMAN Isoform 4 of Mothers against decapentaplegic homolog 6 OS=Homo sapiens OX=9606 GN=SMAD6 PE=1 SV=2 CANONICAL=O43541-1" }, "locus": { "chromosome": "15", "start_pos": 66717070, "end_pos": 66703259, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000557916.5", "url": "https://www.ensembl.org/id/ENST00000557916.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000452955.1", "url": "https://www.ensembl.org/id/ENSP00000452955.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 385, "start_aa": "Ser", "end_pos": 385, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser385", "evidence": [ { "id": "O43541", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O43541" }, { "id": "31492838", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31492838" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 394, "start_aa": "Ser", "end_pos": 394, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser394", "evidence": [ { "id": "O43541", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O43541" }, { "id": "31492838", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31492838" } ] } ], "phosphorylation": [ { "start_pos": 435, "end_pos": 435, "kinase_uniprot_canonical_ac": "P51817-1", "kinase_gene_name": "PRKX", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O43541", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43541" }, { "database": "PubMed", "id": "16491121", "url": "https://glygen.org/publication/PubMed/16491121" } ], "site_lbl": "Ser435" }, { "start_pos": 435, "end_pos": 435, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine; by PRKX; in vitro", "evidence": [ { "database": "UniProtKB", "id": "O43541", "url": "https://www.uniprot.org/uniprot/O43541" }, { "database": "iPTMnet", "id": "O43541", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43541" }, { "database": "PubMed", "id": "16491121", "url": "https://glygen.org/publication/PubMed/16491121" } ], "site_lbl": "Ser435" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "A SMAD ubiquitin ligase targets the BMP pathway and affects embryonic pattern formation.", "journal": "Nature", "date": "1999", "authors": "Zhu H, Kavsak P, Abdollah S, Wrana JL, Thomsen GH", "evidence": [ { "database": "Reactome", "id": "R-HSA-201451", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-201451" } ], "reference": [ { "type": "PubMed", "id": "10458166", "url": "https://glygen.org/publication/PubMed/10458166" } ] }, { "title": "SMAD destruction turns off signalling.", "journal": "Nature cell biology", "date": "1999", "authors": "Heldin CH, ten Dijke P", "evidence": [ { "database": "Reactome", "id": "R-HSA-201451", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-201451" } ], "reference": [ { "type": "PubMed", "id": "10587654", "url": "https://glygen.org/publication/PubMed/10587654" } ] }, { "title": "Remarkable versatility of Smad proteins in the nucleus of transforming growth factor-beta activated cells.", "journal": "Cytokine & growth factor reviews", "date": "1999", "authors": "Verschueren K, Huylebroeck D", "evidence": [ { "database": "UniProtKB", "id": "O43541", "url": "https://www.uniprot.org/uniprot/O43541" } ], "reference": [ { "type": "PubMed", "id": "10647776", "url": "https://glygen.org/publication/PubMed/10647776" } ] }, { "title": "The Smad pathway.", "journal": "Cytokine & growth factor reviews", "date": "2000", "authors": "Wrana J L, Attisano L", "evidence": [ { "database": "UniProtKB", "id": "O43541", "url": "https://www.uniprot.org/uniprot/O43541" } ], "reference": [ { "type": "PubMed", "id": "10708948", "url": "https://glygen.org/publication/PubMed/10708948" } ] }, { "title": "TGF-beta signaling by Smad proteins.", "journal": "Cytokine & growth factor reviews", "date": "2000", "authors": "Miyazono K", "evidence": [ { "database": "UniProtKB", "id": "O43541", "url": "https://www.uniprot.org/uniprot/O43541" } ], "reference": [ { "type": "PubMed", "id": "10708949", "url": "https://glygen.org/publication/PubMed/10708949" } ] }, { "title": "Bone morphogenetic protein receptor complexes on the surface of live cells: a new oligomerization mode for serine/threonine kinase receptors.", "journal": "Molecular biology of the cell", "date": "2000", "authors": "Gilboa L, Nohe A, Geissendorfer T, Sebald W, Henis YI, Knaus P", "evidence": [ { "database": "Reactome", "id": "R-HSA-201451", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-201451" } ], "reference": [ { "type": "PubMed", "id": "10712517", "url": "https://glygen.org/publication/PubMed/10712517" } ] }, { "title": "Smad6 as a transcriptional corepressor.", "journal": "J. Biol. Chem.", "date": "2000", "authors": "Bai S, Shi X, Yang X, Cao X", "evidence": [ { "database": "UniProtKB", "id": "O43541", "url": "https://www.uniprot.org/uniprot/O43541" } ], "reference": [ { "type": "PubMed", "id": "10722652", "url": "https://glygen.org/publication/PubMed/10722652" } ] }, { "title": "Smurf2 is a ubiquitin E3 ligase mediating proteasome-dependent degradation of Smad2 in transforming growth factor-beta signaling.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Lin X, Liang M, Feng XH", "evidence": [ { "database": "Reactome", "id": "R-HSA-201451", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-201451" } ], "reference": [ { "type": "PubMed", "id": "11016919", "url": "https://glygen.org/publication/PubMed/11016919" } ] }, { "title": "Ski represses bone morphogenic protein signaling in Xenopus and mammalian cells.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2000", "authors": "Wang W, Mariani FV, Harland RM, Luo K", "evidence": [ { "database": "Reactome", "id": "R-HSA-201451", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-201451" } ], "reference": [ { "type": "PubMed", "id": "11121043", "url": "https://glygen.org/publication/PubMed/11121043" } ] }, { "title": "Regulation of Smad degradation and activity by Smurf2, an E3 ubiquitin ligase.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2001", "authors": "Zhang Y, Chang C, Gehling DJ, Hemmati-Brivanlou A, Derynck R", "evidence": [ { "database": "Reactome", "id": "R-HSA-201451", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-201451" } ], "reference": [ { "type": "PubMed", "id": "11158580", "url": "https://glygen.org/publication/PubMed/11158580" } ] }, { "title": "Smurf1 interacts with transforming growth factor-beta type I receptor through Smad7 and induces receptor degradation.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Ebisawa T, Fukuchi M, Murakami G, Chiba T, Tanaka K, Imamura T, Miyazono K", "evidence": [ { "database": "Reactome", "id": "R-HSA-201451", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-201451" } ], "reference": [ { "type": "PubMed", "id": "11278251", "url": "https://glygen.org/publication/PubMed/11278251" } ] }, { "title": "Human truncated Smad 6 (Smad 6s) inhibits the BMP pathway in Xenopus laevis.", "journal": "Dev. Growth Differ.", "date": "2001", "authors": "Krishnan P, King M W, Neff A W, Sandusky G E, Bierman K L, Grinnell B, Smith R C", "evidence": [ { "database": "UniProtKB", "id": "O43541", "url": "https://www.uniprot.org/uniprot/O43541" } ], "reference": [ { "type": "PubMed", "id": "11284962", "url": "https://glygen.org/publication/PubMed/11284962" } ] }, { "title": "Promoting bone morphogenetic protein signaling through negative regulation of inhibitory Smads.", "journal": "EMBO J.", "date": "2001", "authors": "Itoh F, Asao H, Sugamura K, Heldin CH, ten Dijke P, Itoh S", "evidence": [ { "database": "UniProtKB", "id": "O43541", "url": "https://www.uniprot.org/uniprot/O43541" } ], "reference": [ { "type": "PubMed", "id": "11483516", "url": "https://glygen.org/publication/PubMed/11483516" } ] }, { "title": "Nucleocytoplasmic shuttling of Smad1 conferred by its nuclear localization and nuclear export signals.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Xiao Z, Watson N, Rodriguez C, Lodish HF", "evidence": [ { "database": "Reactome", "id": "R-HSA-201451", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-201451" } ], "reference": [ { "type": "PubMed", "id": "11509558", "url": "https://glygen.org/publication/PubMed/11509558" } ] }, { "title": "Proteasomal degradation of Smad1 induced by bone morphogenetic proteins.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Gruendler C, Lin Y, Farley J, Wang T", "evidence": [ { "database": "Reactome", "id": "R-HSA-201451", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-201451" } ], "reference": [ { "type": "PubMed", "id": "11571290", "url": "https://glygen.org/publication/PubMed/11571290" } ] }, { "title": "The mode of bone morphogenetic protein (BMP) receptor oligomerization determines different BMP-2 signaling pathways.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Nohe A, Hassel S, Ehrlich M, Neubauer F, Sebald W, Henis YI, Knaus P", "evidence": [ { "database": "Reactome", "id": "R-HSA-201451", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-201451" } ], "reference": [ { "type": "PubMed", "id": "11714695", "url": "https://glygen.org/publication/PubMed/11714695" } ] }, { "title": "Structural basis of Smad1 activation by receptor kinase phosphorylation.", "journal": "Molecular cell", "date": "2001", "authors": "Qin BY, Chacko BM, Lam SS, de Caestecker MP, Correia JJ, Lin K", "evidence": [ { "database": "Reactome", "id": "R-HSA-201451", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-201451" } ], "reference": [ { "type": "PubMed", "id": "11779505", "url": "https://glygen.org/publication/PubMed/11779505" } ] }, { "title": "Smurf1 regulates the inhibitory activity of Smad7 by targeting Smad7 to the plasma membrane.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Suzuki C, Murakami G, Fukuchi M, Shimanuki T, Shikauchi Y, Imamura T, Miyazono K", "evidence": [ { "database": "Reactome", "id": "R-HSA-201451", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-201451" } ], "reference": [ { "type": "PubMed", "id": "12151385", "url": "https://glygen.org/publication/PubMed/12151385" } ] }, { "title": "Chromosomal region maintenance 1 (CRM1)-dependent nuclear export of Smad ubiquitin regulatory factor 1 (Smurf1) is essential for negative regulation of transforming growth factor-beta signaling by Smad7.", "journal": "The Journal of biological chemistry", "date": "2003", "authors": "Tajima Y, Goto K, Yoshida M, Shinomiya K, Sekimoto T, Yoneda Y, Miyazono K, Imamura T", "evidence": [ { "database": "Reactome", "id": "R-HSA-201451", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-201451" } ], "reference": [ { "type": "PubMed", "id": "12519765", "url": "https://glygen.org/publication/PubMed/12519765" } ] }, { "title": "An extended bipartite nuclear localization signal in Smad4 is required for its nuclear import and transcriptional activity.", "journal": "Oncogene", "date": "2003", "authors": "Xiao Z, Latek R, Lodish HF", "evidence": [ { "database": "Reactome", "id": "R-HSA-201451", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-201451" } ], "reference": [ { "type": "PubMed", "id": "12592392", "url": "https://glygen.org/publication/PubMed/12592392" } ] }, { "title": "A novel nuclear export signal in Smad1 is essential for its signaling activity.", "journal": "The Journal of biological chemistry", "date": "2003", "authors": "Xiao Z, Brownawell AM, Macara IG, Lodish HF", "evidence": [ { "database": "Reactome", "id": "R-HSA-201451", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-201451" } ], "reference": [ { "type": "PubMed", "id": "12821673", "url": "https://glygen.org/publication/PubMed/12821673" } ] }, { "title": "Cooperative inhibition of bone morphogenetic protein signaling by Smurf1 and inhibitory Smads.", "journal": "Molecular biology of the cell", "date": "2003", "authors": "Murakami G, Watabe T, Takaoka 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"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070411", "evidence": [ { "database": "UniProtKB", "id": "O43541", "url": "https://www.uniprot.org/uniprot/O43541" } ], "pmid": "" }, { "name": "type I transforming growth factor beta receptor binding", "id": "GO:0034713", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034713", "evidence": [ { "database": "UniProtKB", "id": "O43541", "url": "https://www.uniprot.org/uniprot/O43541" } ], "pmid": "" }, { "name": "type I activin receptor binding", "id": "GO:0070698", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070698", "evidence": [ { "database": "UniProtKB", "id": "O43541", "url": "https://www.uniprot.org/uniprot/O43541" } ], "pmid": "" }, { "name": "transcription regulator inhibitor activity", "id": "GO:0140416", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140416", "evidence": [ { "database": "UniProtKB", "id": "O43541", "url": "https://www.uniprot.org/uniprot/O43541" } ], "pmid": "" }, { "name": "protein sequestering activity", "id": "GO:0140311", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140311", "evidence": [ { "database": "UniProtKB", "id": "O43541", "url": "https://www.uniprot.org/uniprot/O43541" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 9, "go_terms": [ { "name": "heteromeric SMAD protein complex", "id": "GO:0071144", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071144", "evidence": [ { "database": "UniProtKB", "id": "O43541", "url": "https://www.uniprot.org/uniprot/O43541" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "O43541", "url": "https://www.uniprot.org/uniprot/O43541" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "O43541", "url": "https://www.uniprot.org/uniprot/O43541" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": 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"O43541", "url": "https://www.uniprot.org/uniprot/O43541" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "O43541", "url": "https://www.uniprot.org/uniprot/O43541" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 30, "go_terms": [ { "name": "regulation of transcription by RNA polymerase II", "id": "GO:0006357", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006357", "evidence": [ { "database": "UniProtKB", "id": "O43541", "url": "https://www.uniprot.org/uniprot/O43541" } ], "pmid": "" }, { "name": "immune response", "id": "GO:0006955", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006955", "evidence": [ { "database": "UniProtKB", "id": "O43541", "url": "https://www.uniprot.org/uniprot/O43541" } ], "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": "O43541", "url": "https://www.uniprot.org/uniprot/O43541" } ], "pmid": "" }, { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "O43541", "url": "https://www.uniprot.org/uniprot/O43541" } ], "pmid": "" }, { "name": "response to lipopolysaccharide", "id": "GO:0032496", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032496", "evidence": [ { "database": "UniProtKB", "id": "O43541", "url": "https://www.uniprot.org/uniprot/O43541" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "O43541", "url": "https://www.uniprot.org/uniprot/O43541" } ], "pmid": "" }, { "name": "transforming growth factor beta receptor signaling pathway", "id": "GO:0007179", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007179", "evidence": [ { "database": "UniProtKB", "id": "O43541", "url": "https://www.uniprot.org/uniprot/O43541" } ], "pmid": "" }, { "name": "response to laminar fluid shear stress", "id": "GO:0034616", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034616", "evidence": [ { "database": "UniProtKB", "id": "O43541", "url": "https://www.uniprot.org/uniprot/O43541" } ], "pmid": "" }, { "name": "BMP signaling pathway", "id": "GO:0030509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030509", "evidence": [ { "database": "UniProtKB", "id": "O43541", "url": "https://www.uniprot.org/uniprot/O43541" } ], "pmid": "" }, { "name": "negative regulation of BMP signaling pathway", "id": "GO:0030514", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030514", "evidence": [ { "database": "UniProtKB", "id": "O43541", "url": "https://www.uniprot.org/uniprot/O43541" } ], "pmid": "" }, { "name": "SMAD protein signal transduction", "id": "GO:0060395", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060395", "evidence": [ { "database": "UniProtKB", "id": "O43541", "url": "https://www.uniprot.org/uniprot/O43541" } ], "pmid": "" }, { "name": "fat cell differentiation", "id": "GO:0045444", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045444", "evidence": [ { "database": "UniProtKB", "id": "O43541", "url": "https://www.uniprot.org/uniprot/O43541" } ], "pmid": "" }, { "name": "ventricular septum development", "id": "GO:0003281", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003281", "evidence": [ { "database": "UniProtKB", "id": "O43541", "url": "https://www.uniprot.org/uniprot/O43541" } ], "pmid": "" }, { "name": "aorta development", "id": "GO:0035904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035904", "evidence": [ { "database": "UniProtKB", "id": "O43541", "url": "https://www.uniprot.org/uniprot/O43541" } ], "pmid": "" }, { "name": "response to estrogen", "id": "GO:0043627", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043627", 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"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030512", "evidence": [ { "database": "UniProtKB", "id": "O43541", "url": "https://www.uniprot.org/uniprot/O43541" } ], "pmid": "" }, { "name": "negative regulation of osteoblast differentiation", "id": "GO:0045668", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045668", "evidence": [ { "database": "UniProtKB", "id": "O43541", "url": "https://www.uniprot.org/uniprot/O43541" } ], "pmid": "" }, { "name": "cell-substrate adhesion", "id": "GO:0031589", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031589", "evidence": [ { "database": "UniProtKB", "id": "O43541", "url": "https://www.uniprot.org/uniprot/O43541" } ], "pmid": "" }, { "name": "ureteric bud development", "id": "GO:0001657", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001657", "evidence": [ { "database": "UniProtKB", "id": "O43541", "url": "https://www.uniprot.org/uniprot/O43541" } ], "pmid": "" }, { "name": "anatomical structure morphogenesis", "id": "GO:0009653", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009653", "evidence": [ { "database": "UniProtKB", "id": "O43541", "url": "https://www.uniprot.org/uniprot/O43541" } ], "pmid": "" }, { "name": "negative regulation of ossification", "id": "GO:0030279", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030279", "evidence": [ { "database": "UniProtKB", "id": "O43541", "url": "https://www.uniprot.org/uniprot/O43541" } ], "pmid": "" }, { "name": "outflow tract septum morphogenesis", "id": "GO:0003148", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003148", "evidence": [ { "database": "UniProtKB", "id": "O43541", "url": "https://www.uniprot.org/uniprot/O43541" } ], "pmid": "" }, { "name": "aortic valve morphogenesis", "id": "GO:0003180", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003180", "evidence": [ { "database": "UniProtKB", "id": "O43541", "url": "https://www.uniprot.org/uniprot/O43541" } ], "pmid": "" }, { "name": "pulmonary valve morphogenesis", "id": "GO:0003184", "url": 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Ubiquitinated by WWP1 (By similarity). Ubiquitinated by ARK2C, promoting proteasomal degradation, leading to enhance the BMP-Smad signaling (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "O43541", "url": "https://www.uniprot.org/uniprot/O43541" }, { "database": "PubMed", "id": "23455153", "url": "https://glygen.org/publication/PubMed/23455153" } ] }, { "annotation": "Phosphorylated by BMP type 1 receptor kinase and by PRKX.", "evidence": [ { "database": "UniProtKB", "id": "O43541", "url": "https://www.uniprot.org/uniprot/O43541" }, { "database": "PubMed", "id": "16491121", "url": "https://glygen.org/publication/PubMed/16491121" } ] } ], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" }, { "name": "homologset.oma", "label": "OMA Homologs" } ], "sequence_features": { "n_linked_sites": [], "o_linked_sites": [ 385, 394 ], "snv_sites": [ 36, 265, 295, 385, 394, 406, 415, 495 ], "glycation_sites": [], "phosphorylation_sites": [ 435 ], "sequon_annotation_sites": [] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 2 }, { "field": "total_sites", "count": 2 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 2 } ], "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": 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": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 2 }, { "field": "total_sites", "count": 2 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 2 } ], "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": 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": "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": 2 }, { "field": "total_sites", "count": 1 } ], "sort_fields": [ "start_pos", "end_pos", "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 11 }, { "field": "total_sites", "count": 8 } ], "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": 3 }, { "field": "total_sites", "count": 3 } ], "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": 8 }, { "field": "total_sites", "count": 6 } ], "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", "table_stats": [ { "field": "total", "count": 56 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }