{ "uniprot_canonical_ac": "O00292-1", "uniprot_ac": "O00292", "uniprot_id": "LFTY2_HUMAN", "mass": { "chemical_mass": 40920.0, "monoisotopic_mass": 40920.0 }, "refseq": { "ac": "NP_001165896", "name": "left-right determination factor 2 isoform 2 precursor", "summary": "This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate the mature protein, which plays a role in left-right asymmetry determination of organ systems during development. The protein may also play a role in endometrial bleeding. Mutations in this gene have been associated with left-right axis malformations, particularly in the heart and lungs. Some types of infertility have been associated with dysregulated expression of this gene in the endometrium. This gene is closely linked to both a related family member and a related pseudogene. This gene encodes multiple isoforms that may undergo similar proteolytic processing. [provided by RefSeq, Aug 2016].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001165896" }, "gene_names": [ { "name": "LEFTY2", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O00292", "id": "O00292" }, { "name": "EBAF; LEFTA; LEFTYA; TGFB4", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001165896", "id": "NP_001165896" }, { "name": "EBAF", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O00292", "id": "O00292" }, { "name": "LEFTA", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O00292", "id": "O00292" }, { "name": "LEFTY2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001165896", "id": "NP_001165896" }, { "name": "LEFTYA", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O00292", "id": "O00292" }, { "name": "PSEC0024", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O00292", "id": "O00292" }, { "name": "TGFB4", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O00292", "id": "O00292" } ], "protein_names": [ { "name": "Left-right determination factor 2", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O00292" }, { "name": "Endometrial bleeding-associated factor", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00292" }, { "name": "Left-right determination factor A", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00292" }, { "name": "Protein lefty-2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00292" }, { "name": "Protein lefty-A", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00292" }, { "name": "TGF-beta-4", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00292" }, { "name": "Transforming growth factor beta-4", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00292" }, { "name": "left-right determination factor 2 isoform 2 precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001165896", "id": "NP_001165896" }, { "name": "transforming growth factor beta-4; TGF-beta-4; protein lefty-2; protein lefty-A; left-right determination factor A; endometrial bleeding-associated factor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001165896", "id": "NP_001165896" } ], "function": [ { "annotation": "Association of maternal hypertension and diabetes with variants of the NKX2-5, LEFTY1 and LEFTY2 genes in children with congenital heart defects: a case-control study from Pakistani Population.", "evidence": [ { "database": "RefSeq", "id": "NP_001165896", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001165896" }, { "database": "PubMed", "id": "37097539", "url": "https://glygen.org/publication/PubMed/37097539" } ] }, { "annotation": "Findings show that the TGFB4 (ebaf) mRNA has distinct tumor specific expression Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001165896", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001165896" }, { "database": "PubMed", "id": "9230066", "url": "https://glygen.org/publication/PubMed/9230066" } ] }, { "annotation": "In a reaction-diffusion pattern, the effective range of Nodal is 3.5 times narrower than that of Lefty2. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001165896", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001165896" }, { "database": "PubMed", "id": "30575724", "url": "https://glygen.org/publication/PubMed/30575724" } ] }, { "annotation": "LEFTY2 alleviates hepatic stellate cell activation and liver fibrosis by regulating the TGF-beta1/Smad3 pathway.", "evidence": [ { "database": "RefSeq", "id": "NP_001165896", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001165896" }, { "database": "PubMed", "id": "32745796", "url": "https://glygen.org/publication/PubMed/32745796" } ] }, { "annotation": "Required for left-right (L-R) asymmetry determination of organ systems in mammals. May play a role in endometrial bleeding.", "evidence": [ { "database": "UniProtKB", "id": "O00292", "url": "https://www.uniprot.org/uniprot/O00292#function" } ] }, { "annotation": "Requirements of LEFTY and Nodal overexpression for tumor cell survival under hypoxia in glioblastoma.", "evidence": [ { "database": "RefSeq", "id": "NP_001165896", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001165896" }, { "database": "PubMed", "id": "33111989", "url": "https://glygen.org/publication/PubMed/33111989" } ] }, { "annotation": "The present study demonstrates a novel role of LEFTY2 in up-regulating transcript levels and protein abundance of the Na+ coupled glucose transporter SGLT1, thus stimulating cellular glucose uptake and cellular formation of glycogen in endometrial cancer cells. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001165896", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001165896" }, { "database": "PubMed", "id": "32236143", "url": "https://glygen.org/publication/PubMed/32236143" } ] }, { "annotation": "This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate the mature protein, which plays a role in left-right asymmetry determination of organ systems during development. The protein may also play a role in endometrial bleeding. Mutations in this gene have been associated with left-right axis malformations, particularly in the heart and lungs. Some types of infertility have been associated with dysregulated expression of this gene in the endometrium. This gene is closely linked to both a related family member and a related pseudogene. This gene encodes multiple isoforms that may undergo similar proteolytic processing. [provided by RefSeq, Aug 2016].", "evidence": [ { "database": "RefSeq", "id": "NP_001165896", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001165896" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "rs1225768976", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1225768976" }, { "id": "rs1225768976", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1225768976#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 160, "end_pos": 160, "sequence_org": "T", "sequence_mut": "P", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NRT->NRP).", "chr_id": "1", "chr_pos": "225939775", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T160", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O00292", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O00292" }, { "id": "rs777635848", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777635848" }, { "id": "rs777635848", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777635848" }, { "id": "rs777635848", "database": "NCI-TCGA", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777635848" }, { "id": "rs777635848", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs777635848" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 179, "end_pos": 179, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (DVT->NVT).", "chr_id": "1", "chr_pos": "225939563", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "D179", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs1323995563", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1323995563" }, { "id": "rs1323995563", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1323995563" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 309, "end_pos": 309, "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NWP->NWT).", "chr_id": "1", "chr_pos": "225937617", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P309", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1576155189", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1576155189" }, { "id": "rs1576155189", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1576155189" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 327, "end_pos": 327, "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (IVS->NVS).", "chr_id": "1", "chr_pos": "225937562", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I327", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1373851430", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1373851430" }, { "id": "rs1373851430", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1373851430" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 347, "end_pos": 347, "sequence_org": "R", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NMR->NMS).", "chr_id": "1", "chr_pos": "225937501", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R347", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs755657173", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755657173" }, { "id": "rs755657173", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755657173" }, { "id": "rs755657173", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs755657173" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 71, "end_pos": 71, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DRS->NRS).", "chr_id": "1", "chr_pos": "225940930", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D71", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1305726921", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1305726921" }, { "id": "rs1305726921", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1305726921#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 79, "end_pos": 79, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SQS->NQS).", "chr_id": "1", "chr_pos": "225940905", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S79", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "57.36", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000143768", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000143768" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "57.38", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000143768", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000143768" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "54.39", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000143768", "url": 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"57.32", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000143768", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000143768" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "38.19", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000143768", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000143768" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "60.94", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000143768", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000143768" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "59.2", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000143768", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000143768" } ] } ], "expression_disease": [ { "significant": "No", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O00292", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00292" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate 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"MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "No", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O00292", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00292" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "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": "O00292", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00292" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": 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"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", 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Lewin M, Belmont J, Schauer G, Casey B", "evidence": [ { "database": "UniProtKB", "id": "O00292", "url": "https://www.uniprot.org/uniprot/O00292" } ], "reference": [ { "type": "PubMed", "id": "10053005", "url": "https://glygen.org/publication/PubMed/10053005" } ] }, { "title": "The head inducer Cerberus is a multifunctional antagonist of Nodal, BMP and Wnt signals.", "journal": "Nature", "date": "1999", "authors": "Piccolo S, Agius E, Leyns L, Bhattacharyya S, Grunz H, Bouwmeester T, De Robertis EM", "evidence": [ { "database": "Reactome", "id": "R-HSA-1433617", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1433617" } ], "reference": [ { "type": "PubMed", "id": "10067895", "url": "https://glygen.org/publication/PubMed/10067895" } ] }, { "title": "The role of FAST-1 and Smads in transcriptional regulation by activin during early Xenopus embryogenesis.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Yeo CY, Chen X, Whitman M", "evidence": [ { 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"Reactome", "id": "R-HSA-1181150", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1181150" } ], "reference": [ { "type": "PubMed", "id": "11485994", "url": "https://glygen.org/publication/PubMed/11485994" } ] }, { "title": "Crystal structure of a phosphorylated Smad2. Recognition of phosphoserine by the MH2 domain and insights on Smad function in TGF-beta signaling.", "journal": "Molecular cell", "date": "2001", "authors": "Wu JW, Hu M, Chai J, Seoane J, Huse M, Li C, Rigotti DJ, Kyin S, Muir TW, Fairman R, Massague J, Shi Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-1181150", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1181150" } ], "reference": [ { "type": "PubMed", "id": "11779503", "url": "https://glygen.org/publication/PubMed/11779503" } ] }, { "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-1181150", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1181150" } ], "reference": [ { "type": "PubMed", "id": "11779505", "url": "https://glygen.org/publication/PubMed/11779505" } ] }, { "title": "cDNA cloning, expression studies and chromosome mapping of human type I serine/threonine kinase receptor ALK7 (ACVR1C).", "journal": "Cytogenetics and cell genetics", "date": "2001", "authors": "Bondestam J, Huotari MA, Moren A, Ustinov J, Kaivo-Oja N, Kallio J, Horelli-Kuitunen N, Aaltonen J, Fujii M, Moustakas A, Ten Dijke P, Otonkoski T, Ritvos O", "evidence": [ { "database": "Reactome", "id": "R-HSA-1181150", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1181150" } ], "reference": [ { "type": "PubMed", "id": "12063393", "url": "https://glygen.org/publication/PubMed/12063393" } ] }, { "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-1181150", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1181150" } ], "reference": [ { "type": "PubMed", "id": "12592392", "url": 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induce apoptosis in human trophoblast cells.", "journal": "The Journal of biological chemistry", "date": "2004", "authors": "Munir S, Xu G, Wu Y, Yang B, Lala PK, Peng C", "evidence": [ { "database": "Reactome", "id": "R-HSA-1181150", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1181150" } ], "reference": [ { "type": "PubMed", "id": "15150278", "url": "https://glygen.org/publication/PubMed/15150278" } ] }, { "title": "The nucleotide transporter MRP4 (ABCC4) is highly expressed in human platelets and present in dense granules, indicating a role in mediator storage.", "journal": "Blood", "date": "2004", "authors": "Jedlitschky G, Tirschmann K, Lubenow LE, Nieuwenhuis HK, Akkerman JW, Greinacher A, Kroemer HK", "evidence": [ { "database": "Reactome", "id": "R-HSA-114608", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-114608" } ], "reference": [ { "type": "PubMed", "id": "15297306", "url": "https://glygen.org/publication/PubMed/15297306" } ] }, { "title": "Structural basis of heteromeric smad protein assembly in TGF-beta signaling.", "journal": "Molecular cell", "date": "2004", "authors": "Chacko BM, Qin BY, Tiwari A, Shi G, Lam S, Hayward LJ, De Caestecker M, Lin K", "evidence": [ { "database": "Reactome", "id": "R-HSA-1181150", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1181150" } ], "reference": [ { "type": "PubMed", "id": "15350224", "url": "https://glygen.org/publication/PubMed/15350224" } ] }, { "title": "ALK7, a receptor for nodal, is dispensable for embryogenesis and left-right patterning in the mouse.", "journal": "Molecular and cellular biology", "date": "2004", "authors": "Jornvall H, Reissmann E, Andersson O, Mehrkash M, Ibanez CF", "evidence": [ { "database": "Reactome", "id": "R-HSA-1181150", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1181150" } ], "reference": [ { "type": "PubMed", "id": "15485907", "url": "https://glygen.org/publication/PubMed/15485907" } ] }, { "title": "Nodal induces apoptosis and inhibits proliferation in human epithelial ovarian cancer cells via activin receptor-like kinase 7.", "journal": "The Journal of clinical endocrinology and metabolism", "date": "2004", "authors": "Xu G, Zhong Y, Munir S, Yang BB, Tsang BK, Peng C", "evidence": [ { "database": "Reactome", "id": "R-HSA-1181150", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1181150" } ], "reference": [ { "type": "PubMed", "id": "15531507", "url": "https://glygen.org/publication/PubMed/15531507" } ] }, { "title": "Kinetic analysis of Smad nucleocytoplasmic shuttling reveals a mechanism for transforming growth factor beta-dependent nuclear accumulation of Smads.", "journal": "Molecular and cellular biology", "date": "2005", "authors": "Schmierer B, Hill CS", "evidence": [ { "database": "Reactome", "id": "R-HSA-1181150", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1181150" } ], "reference": [ { "type": "PubMed", "id": "16260601", "url": "https://glygen.org/publication/PubMed/16260601" } ] }, { "title": "Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries.", "journal": "DNA Res.", "date": "2005", "authors": "Otsuki T, Ota T, Nishikawa T, Hayashi K, Suzuki Y, Yamamoto J, Wakamatsu A, Kimura K, Sakamoto K, Hatano N, Kawai Y, Ishii S, Saito K, Kojima S, Sugiyama T, Ono T, Okano K, Yoshikawa Y, Aotsuka S, Sasaki N, Hattori A, Okumura K, Nagai K, Sugano S, Isogai T", "evidence": [ { "database": "UniProtKB", "id": "O00292", "url": "https://www.uniprot.org/uniprot/O00292" } ], "reference": [ { "type": "PubMed", "id": "16303743", "url": "https://glygen.org/publication/PubMed/16303743" } ] }, { "title": "Endofin, a FYVE domain protein, interacts with Smad4 and facilitates transforming growth factor-beta signaling.", "journal": "The Journal of biological chemistry", "date": "2007", "authors": "Chen YG, Wang Z, Ma J, Zhang L, Lu Z", "evidence": [ { "database": "Reactome", "id": "R-HSA-1181150", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1181150" } ], "reference": [ { "type": "PubMed", "id": "17272273", "url": "https://glygen.org/publication/PubMed/17272273" } ] }, { "title": "Nucleocytoplasmic shuttling of Smad proteins.", "journal": "Cell research", "date": "2009", "authors": "Hill CS", "evidence": [ { "database": "Reactome", "id": "R-HSA-1181150", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1181150" } ], "reference": [ { "type": "PubMed", "id": "19114992", "url": "https://glygen.org/publication/PubMed/19114992" } ] }, { "title": "Coupling of dephosphorylation and nuclear export of Smads in TGF-beta signaling.", "journal": "Methods in molecular biology (Clifton, N.J.)", "date": "2010", "authors": "Dai F, Duan X, Liang YY, Lin X, Feng XH", "evidence": [ { "database": "Reactome", "id": "R-HSA-1181150", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1181150" } ], "reference": [ { "type": "PubMed", "id": "20694664", "url": 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and activin receptor-like kinase 7 induce apoptosis in human breast cancer cell lines: Role of caspase 3.", "journal": "International journal of physiology, pathophysiology and pharmacology", "date": "2009", "authors": "Zhong Y, Xu G, Ye G, Lee D, Modica-Amore J, Peng C", "evidence": [ { "database": "Reactome", "id": "R-HSA-1181150", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1181150" } ], "reference": [ { "type": "PubMed", "id": "21383881", "url": "https://glygen.org/publication/PubMed/21383881" } ] }, { "title": "Nodal enhances the activity of FoxO3a and its synergistic interaction with Smads to regulate cyclin G2 transcription in ovarian cancer cells.", "journal": "Oncogene", "date": "2011", "authors": "Fu G, Peng C", "evidence": [ { "database": "Reactome", "id": "R-HSA-1181150", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1181150" } ], "reference": [ { "type": "PubMed", "id": "21532621", "url": "https://glygen.org/publication/PubMed/21532621" } ] }, { 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Evidence for a separate alpha-granule-pool of the glycoproteins IIb and IIIa.", "journal": "Biochimica et biophysica acta", "date": "1981", "authors": "Gogstad GO, Hagen I, Korsmo R, Solum NO", "evidence": [ { "database": "Reactome", "id": "R-HSA-114608", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-114608" } ], "reference": [ { "type": "PubMed", "id": "6457647", "url": "https://glygen.org/publication/PubMed/6457647" } ] }, { "title": "Platelet alpha-granules.", "journal": "Blood reviews", "date": "1993", "authors": "Harrison P, Cramer EM", "evidence": [ { "database": "Reactome", "id": "R-HSA-114608", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-114608" } ], "reference": [ { "type": "PubMed", "id": "8467233", "url": "https://glygen.org/publication/PubMed/8467233" } ] }, { "title": "A transcriptional partner for MAD proteins in TGF-beta signalling.", "journal": "Nature", "date": "1996", "authors": "Chen X, Rubock MJ, Whitman M", "evidence": [ { "database": "Reactome", "id": "R-HSA-1181150", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1181150" } ], "reference": [ { "type": "PubMed", "id": "8878477", "url": "https://glygen.org/publication/PubMed/8878477" } ] }, { "title": "Detection of ebaf, a novel human gene of the transforming growth factor beta superfamily association of gene expression with endometrial bleeding.", "journal": "J. Clin. Invest.", "date": "1997", "authors": "Kothapalli R, Buyuksal I, Wu SQ, Chegini N, Tabibzadeh S", "evidence": [ { "database": "UniProtKB", "id": "O00292", "url": "https://www.uniprot.org/uniprot/O00292" } ], "reference": [ { "type": "PubMed", "id": "9153275", "url": "https://glygen.org/publication/PubMed/9153275" } ] }, { "title": "Distinct tumor specific expression of TGFB4 (ebaf)*, a novel human gene of the TGF-beta superfamily.", "journal": "Frontiers in bioscience : a journal and virtual library", "date": "1997", "authors": "Tabibzadeh S, Kothapalli R, Buyuksal I", "evidence": [ { "database": "RefSeq", "id": "NP_001165896", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001165896" } ], "reference": [ { "type": "PubMed", "id": "9230066", "url": "https://glygen.org/publication/PubMed/9230066" } ] }, { "title": "Smad4 and FAST-1 in the assembly of activin-responsive factor.", "journal": "Nature", "date": "1997", "authors": "Chen X, Weisberg E, Fridmacher V, Watanabe M, Naco G, Whitman 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"count": 0 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 }, { "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": 7 }, { "field": "total_sites", "count": 7 } ], "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": 1 }, { "field": "total_sites", "count": 1 } ], "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": 6 }, { "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": 47 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }