{ "uniprot_canonical_ac": "P52849-1", "uniprot_ac": "P52849", "uniprot_id": "NDST2_HUMAN", "mass": { "chemical_mass": 100875.0, "monoisotopic_mass": 100875.0 }, "refseq": { "ac": "NP_001317036", "name": "bifunctional heparan sulfate N-deacetylase/N-sulfotransferase 2 isoform 2", "summary": "This gene encodes a member of the N-deacetylase/N-sulfotransferase subfamily of the sulfotransferase 1 proteins. The encoded enzyme has dual functions in processing glucosamine and heparin polymers, including N-deacetylation and N-sulfation. The encoded protein may be localized to the Golgi. [provided by RefSeq, Feb 2009].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001317036" }, "gene_names": [ { "name": "NDST2", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P52849", "id": "P52849" }, { "name": "HSST2; N-HSST 2; NST2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001317036", "id": "NP_001317036" }, { "name": "HSST2", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P52849", "id": "P52849" }, { "name": "NDST2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001317036", "id": "NP_001317036" } ], "protein_names": [ { "name": "Bifunctional heparan sulfate N-deacetylase/N-sulfotransferase 2", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P52849" }, { "name": "2.8.2.8", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P52849" }, { "name": "Glucosaminyl N-deacetylase/N-sulfotransferase 2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P52849" }, { "name": "N-HSST 2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P52849" }, { "name": "N-heparan sulfate sulfotransferase 2; bifunctional heparan sulfate N-deacetylase/N-sulfotransferase 2; N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 2; glucosaminyl N-deacetylase/N-sulfotransferase 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001317036", "id": "NP_001317036" }, { "name": "N-heparan sulfate sulfotransferase 2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P52849" }, { "name": "NDST-2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P52849" }, { "name": "bifunctional heparan sulfate N-deacetylase/N-sulfotransferase 2 isoform 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001317036", "id": "NP_001317036" } ], "function": [ { "annotation": "Essential bifunctional enzyme that catalyzes both the N-deacetylation and the N-sulfation of glucosamine (GlcNAc) of the glycosaminoglycan in heparan sulfate. Modifies the GlcNAc-GlcA disaccharide repeating sugar backbone to make N-sulfated heparosan, a prerequisite substrate for later modifications in heparin biosynthesis. Plays a role in determining the extent and pattern of sulfation of heparan sulfate. Required for the exosomal release of SDCBP, CD63 and syndecan (PubMed:22660413).", "evidence": [ { "database": "UniProtKB", "id": "P52849", "url": "https://www.uniprot.org/uniprot/P52849#function" }, { "database": "PubMed", "id": "10758005", "url": "https://glygen.org/publication/PubMed/10758005" }, { "database": "PubMed", "id": "22660413", "url": "https://glygen.org/publication/PubMed/22660413" }, { "database": "PubMed", "id": "16343444", "url": "https://glygen.org/publication/PubMed/16343444" }, { "database": "PubMed", "id": "12634318", "url": "https://glygen.org/publication/PubMed/12634318" } ] }, { "annotation": "This gene encodes a member of the N-deacetylase/N-sulfotransferase subfamily of the sulfotransferase 1 proteins. The encoded enzyme has dual functions in processing glucosamine and heparin polymers, including N-deacetylation and N-sulfation. The encoded protein may be localized to the Golgi. [provided by RefSeq, Feb 2009].", "evidence": [ { "database": "RefSeq", "id": "NP_001317036", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001317036" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "rs1565099463", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1565099463" }, { "id": "rs1565099463", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1565099463" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 204, "end_pos": 204, "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NPS->NLS).", "chr_id": "10", "chr_pos": "73807778", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P204", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1252259205", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1252259205" }, { "id": "rs1252259205", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1252259205" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 233, "end_pos": 233, "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NHS->DHS).", "chr_id": "10", "chr_pos": "73807692", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N233", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs778272164", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778272164" }, { "id": "rs778272164", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778272164" }, { "id": "rs778272164", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs778272164" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 233, "end_pos": 233, "sequence_org": "N", "sequence_mut": "I", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NHS->IHS).", "chr_id": "10", "chr_pos": "73807691", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N233", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs778272164", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778272164" }, { "id": "rs778272164", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778272164" }, { "id": "rs778272164", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs778272164" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 233, "end_pos": 233, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NHS->SHS).", "chr_id": "10", "chr_pos": "73807691", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N233", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1483571588", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1483571588" }, { "id": "rs1483571588", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1483571588" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 235, "end_pos": 235, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NHS->NHN).", "chr_id": "10", "chr_pos": "73807685", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S235", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1408716442", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1408716442" }, { "id": "rs1408716442", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1408716442#frequency_tab" }, { "id": "rs1408716442", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1408716442" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 350, "end_pos": 350, "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NFT->KFT).", "chr_id": "10", "chr_pos": "73807151", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N350", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs781011152", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781011152" }, { "id": "rs781011152", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs781011152" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 352, "end_pos": 352, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NFT->NFI).", "chr_id": "10", "chr_pos": "73807146", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T352", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs772139534", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772139534" }, { "id": "rs772139534", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772139534" }, { "id": "rs772139534", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs772139534" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 400, "end_pos": 400, "sequence_org": "N", "sequence_mut": "H", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NRS->HRS).", "chr_id": "10", "chr_pos": "73806707", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N400", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs763889276", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763889276" }, { "id": "rs763889276", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs763889276#frequency_tab" }, { "id": "rs763889276", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs763889276" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 400, "end_pos": 400, "sequence_org": "N", "sequence_mut": "S", "comment": "Somatic mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NRS->SRS).", "chr_id": "10", "chr_pos": "73806706", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N400", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "P52849", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P52849" }, { "id": "rs764136804", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764136804" }, { "id": "rs764136804", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764136804" }, { "id": "rs764136804", "database": "NCI-TCGA", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764136804" }, { "id": "rs764136804", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs764136804" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 666, "end_pos": 666, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "N", "sequence_mut": "S", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-loss (NAS->SAS).", "chr_id": "10", "chr_pos": "73803719", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "N666", "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": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs946613155", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs946613155" }, { "id": "rs946613155", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs946613155" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 802, "end_pos": 802, "sequence_org": "N", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NYT->TYT).", "chr_id": "10", "chr_pos": "73802990", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N802", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "89.91", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000166507", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000166507" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "83.7", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000166507", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000166507" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "92.36", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000166507", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000166507" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "89.76", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000166507", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000166507" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "92.14", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000166507", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000166507" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "91.82", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000166507", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000166507" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "84.94", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000166507", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000166507" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "92.76", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000166507", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000166507" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "92.57", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000166507", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000166507" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "P52849", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P52849" } ], "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 cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "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, 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": "P52849", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P52849" } ], "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": "up", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "P52849", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P52849" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": 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"malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P52849", "url": "https://www.uniprot.org/uniprot/P52849" } ], "common_name": "Human" } ], "gene": [ { "name": "NDST2", "url": "https://www.uniprot.org/uniprot/P52849", "locus": { "chromosome": "10", "start_pos": 73801911, "end_pos": 73811798, "strand": "+", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000166507", "url": "https://www.ensembl.org/id/ENSG00000166507" } ] } } ], "crossref": [ { "id": "ENSG00000166507", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000166507", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "P52849", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P52849", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "2.8.2.8", "url": "https://www.brenda-enzymes.org/enzyme.php?ecno=2.8.2.8&UniProtAcc=P52849", "database": "BRENDA", 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"database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR037359", "url": "https://www.ebi.ac.uk/interpro/entry/IPR037359", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:8509", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:8509", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "603268", "url": "http://www.omim.org/entry/603268", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_P52849", "url": "https://www.nextprot.org/entry/NX_P52849", "database": "neXtProt", "categories": [ "Organism-specific", "Protein" ] }, { "id": "ETHLEYE", "url": "https://omabrowser.org/oma/group/ETHLEYE/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "2913264at2759", "url": "http://www.orthodb.org/?query=2913264at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR10605", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10605", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR10605:SF53", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10605:SF53", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF00685", "url": "http://pfam.xfam.org/family/PF00685", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF12062", "url": "http://pfam.xfam.org/family/PF12062", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "P52849", "url": "https://pharos.nih.gov/targets/P52849", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_P52849", "url": "http://purl.obolibrary.org/obo/PR_P52849", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-2022928", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022928", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_001317036", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001317036", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "21980", "url": "https://www.rhea-db.org/rhea/21980", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "H7C032", "url": "https://www.uniprot.org/uniprot/H7C032", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H7C032-1", "url": "https://www.uniprot.org/uniprot/H7C032-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P52849", "url": "https://www.uniprot.org/uniprot/P52849", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P52849-1", "url": "https://www.uniprot.org/uniprot/P52849-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P52849-2", "url": "https://www.uniprot.org/uniprot/P52849-2", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MLQLWKVVRPARQLELHRLILLLIAFSLGSMGFLAYYVSTSPKAKEPLPLPLGDCSSGGAAGPGPARPPVPPRPPRPPETARTEPVVLVFVESAYSQLGQEIVAILESSRFRYSTELAPGRGDMPTLTDNTHGRYVLVIYENLLKYVNLDAWSRELLDRYCVEYGVGIIGFFRAHEHSLLSAQLKGFPLFLHSNLGLRDYQVNPSAPLLHLTRPSRLEPGPLPGDDWTIFQSNHSTYEPVLLASLRPAEPAVPGPVLRRARLPTVVQDLGLHDGIQRVLFGHGLSFWLHKLIFVDAVAYLTGKRLCLDLDRYILVDIDDIFVGKEGTRMKVADVEALLTTQNKLRTLVPNFTFNLGFSGKFYHTGTEEEDAGDDMLLKHRKEFWWFPHMWSHMQPHLFHNRSVLADQMRLNKQFALEHGIPTDLGYAVAPHHSGVYPIHTQLYEAWKSVWGIQVTSTEEYPHLRPARYRRGFIHNGIMVLPRQTCGLFTHTIFYNEYPGGSRELDRSIRGGELFLTVLLNPISIFMTHLSNYGNDRLGLYTFESLVRFLQCWTRLRLQTLPPVPLAQKYFELFPQERSPLWQNPCDDKRHKDIWSKEKTCDRLPKFLIVGPQKTGTTAIHFFLSLHPAVTSSFPSPSTFEEIQFFNSPNYHKGIDWYMDFFPVPSNASTDFLFEKSATYFDSEVVPRRGAALLPRAKIITVLTNPADRAYSWYQHQRAHGDPVALNYTFYQVISASSQTPLALRSLQNRCLVPGYYSTHLQRWLTYYPSGQLLIVDGQELRTNPAASMESIQKFLGITPFLNYTRTLRFDDDKGFWCQGLEGGKTRCLGRSKGRRYPDMDTESRLFLTDFFRNHNLELSKLLSRLGQPVPSWLREELQHSSLG", "length": 883, "header": "sp|P52849-1|NDST2_HUMAN Isoform 1 of Bifunctional heparan sulfate N-deacetylase/N-sulfotransferase 2 OS=Homo sapiens OX=9606 GN=NDST2 PE=1 SV=1 CANONICAL=P52849-1" }, "isoforms": [ { "isoform_ac": "H7C032-1", "url": "", "sequence": { "sequence": "GDPVALNYTFYQVISASSQTPLALRSLQNRCLVPGYYSTHLQRWLTYYPSGQLLIVDGQELRTNPAASMESIQKFLGITPFLNYTRTLRFDDDKGFWCQGLEGGKTRCLGRSKGRRYPDMDTEVSKARGRGIPLHFQDLILCPTSYHFC", "length": 149, "header": "tr|H7C032-1|NDST2_HUMAN Computationally mapped isoform of Bifunctional heparan sulfate N-deacetylase/N-sulfotransferase 2 OS=Homo sapiens OX=9606 GN=NDST2 PE=1 SV=1 CANONICAL=P52849-1" }, "locus": { "chromosome": "10", "start_pos": 73803344, "end_pos": 73802596, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000429742.1", "url": "https://www.ensembl.org/id/ENST00000429742.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000392733.1", "url": "https://www.ensembl.org/id/ENSP00000392733.1" } ] } }, { "isoform_ac": "P52849-1", "url": "", "sequence": { "sequence": "MLQLWKVVRPARQLELHRLILLLIAFSLGSMGFLAYYVSTSPKAKEPLPLPLGDCSSGGAAGPGPARPPVPPRPPRPPETARTEPVVLVFVESAYSQLGQEIVAILESSRFRYSTELAPGRGDMPTLTDNTHGRYVLVIYENLLKYVNLDAWSRELLDRYCVEYGVGIIGFFRAHEHSLLSAQLKGFPLFLHSNLGLRDYQVNPSAPLLHLTRPSRLEPGPLPGDDWTIFQSNHSTYEPVLLASLRPAEPAVPGPVLRRARLPTVVQDLGLHDGIQRVLFGHGLSFWLHKLIFVDAVAYLTGKRLCLDLDRYILVDIDDIFVGKEGTRMKVADVEALLTTQNKLRTLVPNFTFNLGFSGKFYHTGTEEEDAGDDMLLKHRKEFWWFPHMWSHMQPHLFHNRSVLADQMRLNKQFALEHGIPTDLGYAVAPHHSGVYPIHTQLYEAWKSVWGIQVTSTEEYPHLRPARYRRGFIHNGIMVLPRQTCGLFTHTIFYNEYPGGSRELDRSIRGGELFLTVLLNPISIFMTHLSNYGNDRLGLYTFESLVRFLQCWTRLRLQTLPPVPLAQKYFELFPQERSPLWQNPCDDKRHKDIWSKEKTCDRLPKFLIVGPQKTGTTAIHFFLSLHPAVTSSFPSPSTFEEIQFFNSPNYHKGIDWYMDFFPVPSNASTDFLFEKSATYFDSEVVPRRGAALLPRAKIITVLTNPADRAYSWYQHQRAHGDPVALNYTFYQVISASSQTPLALRSLQNRCLVPGYYSTHLQRWLTYYPSGQLLIVDGQELRTNPAASMESIQKFLGITPFLNYTRTLRFDDDKGFWCQGLEGGKTRCLGRSKGRRYPDMDTESRLFLTDFFRNHNLELSKLLSRLGQPVPSWLREELQHSSLG", "length": 883, "header": "sp|P52849-1|NDST2_HUMAN Isoform 1 of Bifunctional heparan sulfate N-deacetylase/N-sulfotransferase 2 OS=Homo sapiens OX=9606 GN=NDST2 PE=1 SV=1 CANONICAL=P52849-1" }, "locus": { "chromosome": "10", "start_pos": 73808388, "end_pos": 73802454, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000299641.8", "url": "https://www.ensembl.org/id/ENST00000299641.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000299641.5", "url": "https://www.ensembl.org/id/ENSP00000299641.5" } ] } }, { "isoform_ac": "P52849-2", "url": "", "sequence": { "sequence": "MLQLWKVVRPARQLELHRLILLLIAFSLGSMGFLAYYVSTSPKAKEPLPLPLGDCSSGGAAGPGPARPPVPPRPPRPPETARTEPVVLVFVESAYSQLGQEIVAILESSRFRYSTELAPGRGDMPTLTDNTHGRYVLVIYENLLKYVNLDAWSRELLDRYCVEYGVGIIGFFRAHEHSLLSAQLKGFPLFLHSNLGLRDYQVNPSAPLLHLTRPSRLEPGPLPGDDWTIFQSNHSTYEPVLLASLRPAEPAVPGPVLRRARLPTVVQDLGLHDGIQRVLFGHGLSFWLHKLIFVDAVAYLTGKRLCLDLDRYILVDIDDIFVGKEGTRMKVADVEALLTTQNKLRTLVPNFTFNLGFSGKFYHTGELIPLLLWHIIV", "length": 377, "header": "sp|P52849-2|NDST2_HUMAN Isoform 2 of Bifunctional heparan sulfate N-deacetylase/N-sulfotransferase 2 OS=Homo sapiens OX=9606 GN=NDST2 PE=1 SV=1 CANONICAL=P52849-1" }, "locus": {} } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 233, "start_aa": "Asn", "end_pos": 233, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn233", "evidence": [ { "id": "P52849", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P52849#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 350, "start_aa": "Asn", "end_pos": 350, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn350", "evidence": [ { "id": "P52849", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P52849#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 400, "start_aa": "Asn", "end_pos": 400, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn400", "evidence": [ { "id": "P52849", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P52849#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 666, "start_aa": "Asn", "end_pos": 666, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn666", "evidence": [ { "id": "P52849", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P52849#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 726, "start_aa": "Asn", "end_pos": 726, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn726", "evidence": [ { "id": "P52849", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P52849#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 802, "start_aa": "Asn", "end_pos": 802, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn802", "evidence": [ { "id": "P52849", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P52849#ptm_processing" }, { "id": "24190977", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24190977" }, { "id": "GLY_000143", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000143" } ] } ], "phosphorylation": [], "glycation": [], "keywords": [ "enzyme", "glycoprotein", "glycoprotein_predicted", "glycoprotein_reported" ], "publication": [ { "title": "The putative tumor suppressors EXT1 and EXT2 form a stable complex that accumulates in the Golgi apparatus and catalyzes the synthesis of heparan sulfate.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2000", "authors": "McCormick C, Duncan G, Goutsos KT, Tufaro F", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022928", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022928" } ], "reference": [ { "type": "PubMed", "id": "10639137", "url": "https://glygen.org/publication/PubMed/10639137" } ] }, { "title": "The occurrence of three isoforms of heparan sulfate 6-O-sulfotransferase having different specificities for hexuronic acid adjacent to the targeted N-sulfoglucosamine.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Habuchi H, Tanaka M, Habuchi O, Yoshida K, Suzuki H, Ban K, Kimata K", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022928", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022928" } ], "reference": [ { "type": "PubMed", "id": "10644753", "url": "https://glygen.org/publication/PubMed/10644753" } ] }, { "title": "Expression of heparan sulphate L-iduronyl 2-O-sulphotransferase in human kidney 293 cells results in increased D-glucuronyl 2-O-sulphation.", "journal": "The Biochemical journal", "date": "2000", "authors": "Rong J, Habuchi H, Kimata K, Lindahl U, Kusche-Gullberg M", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022928", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022928" } ], "reference": [ { "type": "PubMed", "id": "10677367", "url": "https://glygen.org/publication/PubMed/10677367" } ] }, { "title": "Heparan sulfate proteoglycans on the cell surface: versatile coordinators of cellular functions.", "journal": "The international journal of biochemistry & cell biology", "date": "2000", "authors": "Tumova S, Woods A, Couchman JR", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022928", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022928" } ], "reference": [ { "type": "PubMed", "id": "10716625", "url": "https://glygen.org/publication/PubMed/10716625" } ] }, { "title": "Overexpression of different isoforms of glucosaminyl N-deacetylase/N-sulfotransferase results in distinct heparan sulfate N-sulfation patterns.", "journal": "Biochemistry", "date": "2000", "authors": "Eriksson I., Kjellen L., Pikas D.S.", "evidence": [ { "database": "UniProtKB", "id": "P52849", "url": "https://www.uniprot.org/uniprot/P52849" } ], "reference": [ { "type": "PubMed", "id": "10758005", "url": "https://glygen.org/publication/PubMed/10758005" } ] }, { "title": "Multiple isozymes of heparan sulfate/heparin GlcNAc N-deacetylase/GlcN N-sulfotransferase. Structure and activity of the fourth member, NDST4.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Aikawa J, Grobe K, Tsujimoto M, Esko JD", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022928", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022928" } ], "reference": [ { "type": "PubMed", "id": "11087757", "url": "https://glygen.org/publication/PubMed/11087757" } ] }, { "title": "Diminished levels of the putative tumor suppressor proteins EXT1 and EXT2 in exostosis chondrocytes.", "journal": "Cell motility and the cytoskeleton", "date": "2001", "authors": "Bernard MA, Hall CE, Hogue DA, Cole WG, Scott A, Snuggs MB, Clines GA, Ludecke HJ, Lovett M, Van Winkle WB, Hecht JT", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022928", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022928" } ], "reference": [ { "type": "PubMed", "id": "11169766", "url": "https://glygen.org/publication/PubMed/11169766" } ] }, { "title": "Characterization of the D-glucuronyl C5-epimerase involved in the biosynthesis of heparin and heparan sulfate.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Li JP, Gong F, El Darwish K, Jalkanen M, Lindahl U", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022928", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022928" } ], "reference": [ { "type": "PubMed", "id": "11274177", "url": "https://glygen.org/publication/PubMed/11274177" } ] }, { "title": "Cloning, Golgi localization, and enzyme activity of the full-length heparin/heparan sulfate-glucuronic acid C5-epimerase.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Crawford BE, Olson SK, Esko JD, Pinhal MA", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022928", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022928" } ], "reference": [ { "type": "PubMed", "id": "11279150", "url": "https://glygen.org/publication/PubMed/11279150" } ] }, { "title": "Heparan sulfate 3-O-sulfotransferase isoform 5 generates both an antithrombin-binding site and an entry receptor for herpes simplex virus, type 1.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Xia G, Chen J, Tiwari V, Ju W, Li JP, Malmstrom A, Shukla D, Liu J", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022928", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022928" } ], "reference": [ { "type": "PubMed", "id": "12138164", "url": "https://glygen.org/publication/PubMed/12138164" } ] }, { "title": "Biosynthesis of heparan sulphate with diverse structures and functions: two alternatively spliced forms of human heparan sulphate 6-O-sulphotransferase-2 having different expression patterns and properties.", "journal": "The Biochemical journal", "date": "2003", "authors": "Habuchi H, Miyake G, Nogami K, Kuroiwa A, Matsuda Y, Kusche-Gullberg M, Habuchi O, Tanaka M, Kimata K", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022928", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022928" } ], "reference": [ { "type": "PubMed", "id": "12492399", "url": "https://glygen.org/publication/PubMed/12492399" } ] }, { "title": "Antibody-based assay for N-deacetylase activity of heparan sulfate/heparin N-deacetylase/N-sulfotransferase (NDST): novel characteristics of NDST-1 and -2.", "journal": "Glycobiology", "date": "2003", "authors": "Eriksson I., Kjellen L., Berden J.H.M., Pikas D.S., Pisa B.J., van den Born J.", "evidence": [ { "database": "UniProtKB", "id": "P52849", "url": "https://www.uniprot.org/uniprot/P52849" } ], "reference": [ { "type": "PubMed", "id": "12634318", "url": "https://glygen.org/publication/PubMed/12634318" } ] }, { "title": "Molecular cloning and characterization of a human multisubstrate specific nucleotide-sugar transporter homologous to Drosophila fringe connection.", "journal": "The Journal of biological chemistry", "date": "2004", "authors": "Suda T, Kamiyama S, Suzuki M, Kikuchi N, Nakayama K, Narimatsu H, Jigami Y, Aoki T, Nishihara S", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022928", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022928" } ], "reference": [ { "type": "PubMed", "id": "15082721", "url": "https://glygen.org/publication/PubMed/15082721" } ] }, { "title": "Identification and characterization of human Golgi nucleotide sugar transporter SLC35D2, a novel member of the SLC35 nucleotide sugar transporter family.", "journal": "Genomics", "date": "2005", "authors": "Ishida N, Kuba T, Aoki K, Miyatake S, Kawakita M, Sanai Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022928", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022928" } ], "reference": [ { "type": "PubMed", "id": "15607426", "url": "https://glygen.org/publication/PubMed/15607426" } ] }, { "title": "Characterization of the N-deacetylase domain from the heparan sulfate N-deacetylase/N-sulfotransferase 2.", "journal": "Biochem. Biophys. Res. Commun.", "date": "2006", "authors": "Duncan MB, Liu M, Fox C, Liu J", "evidence": [ { "database": "UniProtKB", "id": "P52849", "url": "https://www.uniprot.org/uniprot/P52849" }, { "database": "Reactome", "id": "R-HSA-2022928", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022928" } ], "reference": [ { "type": "PubMed", "id": "16343444", "url": "https://glygen.org/publication/PubMed/16343444" } ] }, { "title": "Target selection of heparan sulfate hexuronic acid 2-O-sulfotransferase.", "journal": "Glycobiology", "date": "2010", "authors": "Smeds E, Feta A, Kusche-Gullberg M", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022928", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022928" } ], "reference": [ { "type": "PubMed", "id": "20554947", "url": "https://glygen.org/publication/PubMed/20554947" } ] }, { "title": "Syndecan-syntenin-ALIX regulates the biogenesis of exosomes.", "journal": "Nat. Cell Biol.", "date": "2012", "authors": "Baietti MF, Zhang Z, Mortier E, Melchior A, Degeest G, Geeraerts A, Ivarsson Y, Depoortere F, Coomans C, Vermeiren E, Zimmermann P, David G", "evidence": [ { "database": "UniProtKB", "id": "P52849", "url": "https://www.uniprot.org/uniprot/P52849" } ], "reference": [ { "type": "PubMed", "id": "22660413", "url": "https://glygen.org/publication/PubMed/22660413" } ] }, { "title": "N-linked glycosylation enrichment for in-depth cell surface proteomics of diffuse large B-cell lymphoma subtypes.", "journal": "Molecular & cellular proteomics : MCP", "date": "2014", "authors": "Deeb SJ, Cox J, Schmidt-Supprian M, Mann M", "evidence": [ { "database": "GlyGen", "id": "GLY_000143", "url": "https://data.glygen.org/GLY_000143" } ], "reference": [ { "type": "PubMed", "id": "24190977", "url": "https://glygen.org/publication/PubMed/24190977" } ] }, { "title": "Cloning of the human heparan sulfate-N-deacetylase/N-sulfotransferase gene from the Treacher Collins syndrome candidate region at 5q32-q33.1.", "journal": "Genomics", "date": "1995", "authors": "Dixon J, Loftus SK, Gladwin AJ, Scambler PJ, Wasmuth JJ, Dixon MJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022928", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022928" } ], "reference": [ { "type": "PubMed", "id": "7601448", "url": "https://glygen.org/publication/PubMed/7601448" } ] }, { "title": "Molecular cloning and expression of mouse and human cDNAs encoding heparan sulfate D-glucosaminyl 3-O-sulfotransferase.", "journal": "The Journal of biological chemistry", "date": "1997", "authors": "Shworak NW, Liu J, Fritze LM, Schwartz JJ, Zhang L, Logeart D, Rosenberg RD", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022928", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022928" } ], "reference": [ { "type": "PubMed", "id": "9346953", "url": "https://glygen.org/publication/PubMed/9346953" } ] }, { "title": "Mutations in the EXT1 and EXT2 genes in hereditary multiple exostoses.", "journal": "American journal of human genetics", "date": "1998", "authors": "Wuyts W, Van Hul W, De Boulle K, Hendrickx J, Bakker E, Vanhoenacker F, Mollica F, Ludecke HJ, Sayli BS, Pazzaglia UE, Mortier G, Hamel B, Conrad EU, Matsushita M, Raskind WH, Willems PJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022928", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022928" } ], "reference": [ { "type": "PubMed", "id": "9463333", "url": "https://glygen.org/publication/PubMed/9463333" } ] }, { "title": "Molecular characterization and expression of heparan-sulfate 6-sulfotransferase. Complete cDNA cloning in human and partial cloning in Chinese hamster ovary cells.", "journal": "The Journal of biological chemistry", "date": "1998", "authors": "Habuchi H, Kobayashi M, Kimata K", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022928", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022928" } ], "reference": [ { "type": "PubMed", "id": "9535912", "url": "https://glygen.org/publication/PubMed/9535912" } ] }, { "title": "cDNA cloning, genomic organization and chromosomal localization of human heparan glucosaminyl N-deacetylase/N-sulphotransferase-2.", "journal": "Biochem. J.", "date": "1998", "authors": "Humphries DE, Lanciotti J, Karlinsky JB", "evidence": [ { "database": "UniProtKB", "id": "P52849", "url": "https://www.uniprot.org/uniprot/P52849" } ], "reference": [ { "type": "PubMed", "id": "9601056", "url": "https://glygen.org/publication/PubMed/9601056" } ] }, { "title": "Molecular cloning and expression of a third member of the heparan sulfate/heparin GlcNAc N-deacetylase/ N-sulfotransferase family.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Aikawa J, Esko JD", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022928", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022928" } ], "reference": [ { "type": "PubMed", "id": "9915799", "url": "https://glygen.org/publication/PubMed/9915799" } ] }, { "title": "Multiple isoforms of heparan sulfate D-glucosaminyl 3-O-sulfotransferase. Isolation, characterization, and expression of human cdnas and identification of distinct genomic loci.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Shworak NW, Liu J, Petros LM, Zhang L, Kobayashi M, Copeland NG, Jenkins NA, Rosenberg RD", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022928", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022928" } ], "reference": [ { "type": "PubMed", "id": "9988767", "url": "https://glygen.org/publication/PubMed/9988767" } ] } ], "pathway": [ { "id": "hsa:8509", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:8509", "resource": "KEGG Pathway" }, { "id": "R-HSA-2022928", "name": "HS-GAG biosynthesis", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022928", "resource": "Reactome", "description": "HS-GAG biosynthesis" } ], "orthologs": [ { "uniprot_canonical_ac": "D3ZD62-1", "protein_name": "[heparan sulfate]-glucosamine N-sulfotransferase", "gene_name": "Ndst2", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MLQLWKVVRPARQLELHRLILLLIGFSLVSMAFLAYFVSTSPKAKEPLPLPLGDCSSSGAAGPGPARPPVPPRPPRPPETTRTEPVVLVFVESAYSQLGQEIVAILESSRFRYSTELAPGRGDMPTLTDHTHGRYVLVIYENLLKYVNLDSWSRELLDRYCVEYGVGIIGFFRAHEHSLLSAQLKGFPLFLYSNLGLRDYQVNPSAPLLHLTRPSRLEPGPLPGDDWTIFQSNHSTYEPVLIASHRPAELPLPGPALRRARLPTVVQDLGLHDGIQRVLFGHGLSFWLHKLVFVDAVAYLTGKRLCLDLDRYILVDIDDIFVGKEGTRMKVADVEALLTTQNKLRTLVPNFTFNLGFSGKFYHTGTEEEDAGDDMLLRHRREFWWFPHMWSHMQPHLFHNRSVLADQMRLNKQFALEHGIPTDLGYAVAPHHSGVYPIHTQLYEAWKSVWGIQVTSTEEYPHLRPARYRRGFIHNGIMVLPRQTCGLFTHTIFYNEYPGGSRELDRSIRGGELFLTVLLNPISVFMTHLSNYGNDRLGLYTFESLVRFLQCWTRLRLQTLPPVPLAQKYFELFPQERSPLWQNPCDDKRHKDIWSKEKTCDRLPKFLIVGPQKTGTTAIHFFLSLHPAVTSSFPSPSTFEEIQFFNGPNYHKGIDWYMDFFPVPSNASTDFLFEKSATYFDSEVVPRRGAALLPRAKIITVLINPADRAYSWYQHQRAHGDPVALNYTFYQVISASSHAPLLLRSLQSRCLVPGYYSTHLQRWLTYYPSGQLLIMDGQELRVNPAASMEIIQKFLGITPFLNYTRTLRFDADKGFWCQGLEGGKTRCLGRSKGRRYPDMDMESRLFLTDFFRTHNLELSKLLSRLGQPAPLWLQEELQHSSVG", "length": 883 }, "evidence": [ { "id": "45230385", "url": "http://www.informatics.jax.org/homology/45230385", "database": "MGI" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "P52850-1", "protein_name": "Bifunctional heparan sulfate N-deacetylase/N-sulfotransferase 2", "gene_name": "Ndst2", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MLQLWKVVRPARQLELHRLILLLIGFSLVSMGFLAYYVSTSPKAKEPLPLPLGDCSSSGAAGPGPARPPVPPRPQRPPETTRTEPVVLVFVESAYSQLGQEIVAILESSRFRYSTELAPGRGDMPTLTDHTHGRYVLVIYENLLKYVNLDAWSRELLDRYCVEYGVGIIGFFRAREHSLLSAQLKGFPLFLHSNLGLRDYQVNPSAPLLHLTRPSRLEPGPLPGDDWTIFQSNHSTYEPVLIASHRPAELSMPGPVLRRARLPTVVQDLGLHDGIQRVLFGHGLSFWLHKLVFVDAVAYLTGKRLCLDLDRYILVDIDDIFVGKEGTRMKVADVEALLTTQNKLRTLVPNFTFNLGFSGKFYHTGTEEEDAGDDMLLKHRREFWWFPHMWSHMQPHLFHNRSVLADQMRLNKQFALEHGIPTDLGYAVAPHHSGVYPIHSQLYEAWKSVWGIQVTSTEEYPHLRPARYRRGFIHNGIMVLPRQTCGLFTHTIFYNEYPGGSRELDRSIRGGELFLTVLLNPISVFMTHLSNYGNDRLGLYTFESLVRFLQCWTRLRLQTLPPVPLAQKYFELFPQERSPLWQNPCDDKRHKDIWSKEKTCDRLPKFLIVGPQKTGTTAIHFFLSLHPAVTSSFPSPSTFEEIQFFNGPNYHKGIDWYMDFFPVPSNASTDFLFEKSATYFDSEVVPRRGAALLPRAKIITVLINPADRAYSWYQHQRAHGDPIALNYTFYQVISASSQAPLLLRSLQNRCLVPGYYSTHLQRWLTYYPSGQLLIMDGQELRVNPAASMEIIQKFLGITPFLNYTRTLRFDEDKGFWCQGLEGGKTRCLGRSKGRRYPDMDMESRLFLTDFFRNHNLELSKLLSRLGQPAPLWLREELQHSSVG", "length": 883 }, "evidence": [ { "id": "45230385", "url": "http://www.informatics.jax.org/homology/45230385", "database": "MGI" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 3, "go_terms": [ { "name": "Golgi membrane", "id": "GO:0000139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000139", "evidence": [ { "database": "UniProtKB", "id": "P52849", "url": "https://www.uniprot.org/uniprot/P52849" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "P52849", "url": "https://www.uniprot.org/uniprot/P52849" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "P52849", "url": "https://www.uniprot.org/uniprot/P52849" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 5, "go_terms": [ { "name": "deacetylase activity", "id": "GO:0019213", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019213", "evidence": [ { "database": "UniProtKB", "id": "P52849", "url": "https://www.uniprot.org/uniprot/P52849" } ], "pmid": "" }, { "name": "[heparan sulfate]-glucosamine N-sulfotransferase activity", "id": "GO:0015016", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015016", "evidence": [ { "database": "UniProtKB", "id": "P52849", "url": "https://www.uniprot.org/uniprot/P52849" } ], "pmid": "" }, { "name": "N-acetylglucosamine deacetylase activity", "id": "GO:0050119", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050119", "evidence": [ { "database": "UniProtKB", "id": "P52849", "url": "https://www.uniprot.org/uniprot/P52849" } ], "pmid": "" }, { "name": "heparan sulfate N-deacetylase activity", "id": "GO:0102140", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0102140", "evidence": [ { "database": "UniProtKB", "id": "P52849", "url": "https://www.uniprot.org/uniprot/P52849" } ], "pmid": "" }, { "name": "sulfotransferase activity", "id": "GO:0008146", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008146", "evidence": [ { "database": "UniProtKB", "id": "P52849", "url": "https://www.uniprot.org/uniprot/P52849" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 6, "go_terms": [ { "name": "heparin biosynthetic process", "id": "GO:0030210", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030210", "evidence": [ { "database": "UniProtKB", "id": "P52849", "url": "https://www.uniprot.org/uniprot/P52849" } ], "pmid": "" }, { "name": "heparan sulfate proteoglycan biosynthetic process, enzymatic modification", "id": "GO:0015015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015015", "evidence": [ { "database": "UniProtKB", "id": "P52849", "url": "https://www.uniprot.org/uniprot/P52849" } ], "pmid": "" }, { "name": "mast cell mediated immunity", "id": "GO:0002448", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002448", "evidence": [ { "database": "UniProtKB", "id": "P52849", "url": "https://www.uniprot.org/uniprot/P52849" } ], "pmid": "" }, { "name": "heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process", "id": "GO:0015014", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015014", "evidence": [ { "database": "UniProtKB", "id": "P52849", "url": "https://www.uniprot.org/uniprot/P52849" } ], "pmid": "" }, { "name": "regulation of angiotensin levels in blood", "id": "GO:0002002", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002002", "evidence": [ { "database": "UniProtKB", "id": "P52849", "url": "https://www.uniprot.org/uniprot/P52849" } ], "pmid": "" }, { "name": "heparan sulfate proteoglycan biosynthetic process", "id": "GO:0015012", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015012", "evidence": [ { "database": "UniProtKB", "id": "P52849", "url": "https://www.uniprot.org/uniprot/P52849" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 233, "end_pos": 235, "annotation": "n_glycosylation_sequon" }, { "start_pos": 350, "end_pos": 352, "annotation": "n_glycosylation_sequon" }, { "start_pos": 400, "end_pos": 402, "annotation": "n_glycosylation_sequon" }, { "start_pos": 666, "end_pos": 668, "annotation": "n_glycosylation_sequon" }, { "start_pos": 726, "end_pos": 728, "annotation": "n_glycosylation_sequon" }, { "start_pos": 802, "end_pos": 804, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [ { "id": "21980", "name": "", "equation": "3'-phosphoadenylyl sulfate + alpha-D-glucosaminyl-[heparan sulfate](n) = adenosine 3',5'-bisphosphate + 2 H(+) + N-sulfo-alpha-D-glucosaminyl-[heparan sulfate](n)", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q02353-1", "P52848-1", "Q9H3R1-1", "P52849-1", "O95803-1", "Q9EQH7-1", "P52850-1", "Q9EQW8-1", "Q3UHN9-1", "Q9V3L1-1" ], "evidence": [ { "id": "21980", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/21980" } ] }, { "id": "R-HSA-2022860", "name": "NDST1-4 can sulfate a glucosamine residue in heparan to form heparan sulfate (HS)", "equation": "", "summary": "The bifunctional enzymes heparan sulfate N-deacetylases/N-sulfotransferases 1-4 (NDST1-4) catalyse both the N-deacetylation and the N-sulfation of N-acetylglucosamine (GlcNAc) of heparan (Dixon et al. 1995, Duncan et al. 2006, Aikawa & Esko 1999, Aikawa et al. 2001). Once GlcNAc is deacetylated to glucosamine, the NDST enzymes can sulfate it on position 2 (N).", "cellular_location": "Golgi lumen, Golgi membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P52849-1", "Q9H3R1-1" ], "evidence": [ { "id": "R-HSA-2022860", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022860" } ] }, { "id": "R-HSA-2022887", "name": "NDST1-4 N-deacetylates GlcNAc residues in heparan", "equation": "", "summary": "The bifunctional enzymes heparan sulfate N-deacetylase/N-sulfotransferase 1-4 (NDST1-4) catalyse both the N-deacetylation and the N-sulfation of N-acetylglucosamine (GlcNAc) of heparan (Dixon et al. 1995, Duncan et al. 2006, Aikawa & Esko 1999, Aikawa et al. 2001). The N-deacetylation of a GlcNAc residue to a glucosamine residue is shown here.", "cellular_location": "Golgi lumen, Golgi membrane", "input_participant_list": [ "R-ALL-2022884" ], "output_participant_list": [], "enzyme_list": [ "P52849-1", "Q9H3R1-1" ], "evidence": [ { "id": "R-HSA-2022887", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022887" } ] } ], "reaction_participants": [ { "participant_id": "R-ALL-2022884", "participant_name": "H2O [Golgi lumen]", "crossref": [ { "id": "C00001", "database": "COMPOUND", "url": "" }, { "id": "8145132", "database": "PubChem Substance", "url": "" }, { "id": "HMDB0002111", "database": "HMDB Metabolite", "url": "" }, { "id": "15377", "database": "ChEBI", "url": "" }, { "id": "8145132", "database": "PubChem Substance", "url": "" }, { "id": "C00001", "database": "COMPOUND", "url": "" }, { "id": "15377", "database": "ChEBI", "url": "" }, { "id": "HMDB0002111", "database": "HMDB Metabolite", "url": "" }, { "id": "15377", "database": "ChEBI", "url": "" }, { "id": "HMDB0002111", "database": "HMDB Metabolite", "url": "" }, { "id": "C00001", "database": "COMPOUND", "url": "" }, { "id": "8145132", "database": "PubChem Substance", "url": "" }, { "id": "15377", "database": "ChEBI", "url": "" }, { "id": "HMDB0002111", "database": "HMDB Metabolite", "url": "" }, { "id": "C00001", "database": "COMPOUND", "url": "" }, { "id": "8145132", "database": "PubChem Substance", "url": "" }, { "id": "C00001", "database": "COMPOUND", "url": "" }, { "id": "15377", "database": "ChEBI", "url": "" }, { "id": "8145132", "database": "PubChem Substance", "url": "" }, { "id": "HMDB0002111", "database": "HMDB Metabolite", "url": "" }, { "id": "HMDB0002111", "database": "HMDB Metabolite", "url": "" }, { "id": "15377", "database": "ChEBI", "url": "" }, { "id": "C00001", "database": "COMPOUND", "url": "" }, { "id": "8145132", "database": "PubChem Substance", "url": "" } ] } ], "reaction_enzymes": [ { "uniprot_ac": "O95803", "gene_name": "NDST3", "activity": [ { "ec_number": "3.-.-.-", "activity": "", "evidence": [ { "id": "O95803", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O95803" } ] }, { "ec_number": "2.8.2.8", "activity": "3'-phosphoadenylyl sulfate + alpha-D-glucosaminyl-[heparan sulfate](n) = adenosine 3',5'-bisphosphate + 2 H(+) + N-sulfo-alpha-D-glucosaminyl-[heparan sulfate](n).", "evidence": [ { "id": "O95803", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O95803" } ] } ] }, { "uniprot_ac": "P52848", "gene_name": "NDST1", "activity": [ { "ec_number": "2.8.2.8", "activity": "3'-phosphoadenylyl sulfate + alpha-D-glucosaminyl-[heparan sulfate](n) = adenosine 3',5'-bisphosphate + 2 H(+) + N-sulfo-alpha-D-glucosaminyl-[heparan sulfate](n).", "evidence": [ { "id": "P52848", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P52848" } ] }, { "ec_number": "3.5.1.-", "activity": "", "evidence": [ { "id": "P52848", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P52848" } ] } ] }, { "uniprot_ac": "P52849", "gene_name": "NDST2", "activity": [ { "ec_number": "2.8.2.-", "activity": "", "evidence": [ { "id": "P52849", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P52849" } ] }, { "ec_number": "2.8.2.8", "activity": "3'-phosphoadenylyl sulfate + alpha-D-glucosaminyl-[heparan sulfate](n) = adenosine 3',5'-bisphosphate + 2 H(+) + N-sulfo-alpha-D-glucosaminyl-[heparan sulfate](n).", "evidence": [ { "id": "P52849", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P52849" } ] }, { "ec_number": "3.-.-.-", "activity": "", "evidence": [ { "id": "P52849", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P52849" } ] }, { "ec_number": "2.8.2.8", "activity": "", "evidence": [ { "id": "P52849", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P52849" } ] } ] }, { "uniprot_ac": "P52850", "gene_name": "Ndst2", "activity": [ { "ec_number": "2.8.2.-", "activity": "", "evidence": [ { "id": "P52850", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P52850" } ] }, { "ec_number": "2.8.2.8", "activity": "3'-phosphoadenylyl sulfate + alpha-D-glucosaminyl-[heparan sulfate](n) = adenosine 3',5'-bisphosphate + 2 H(+) + N-sulfo-alpha-D-glucosaminyl-[heparan sulfate](n).", "evidence": [ { "id": "P52850", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P52850" } ] }, { "ec_number": "3.-.-.-", "activity": "", "evidence": [ { "id": "P52850", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P52850" } ] }, { "ec_number": "2.8.2.8", "activity": "", "evidence": [ { "id": "P52850", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P52850" } ] } ] }, { "uniprot_ac": "Q02353", "gene_name": "Ndst1", "activity": [ { "ec_number": "2.8.2.8", "activity": "3'-phosphoadenylyl sulfate + alpha-D-glucosaminyl-[heparan sulfate](n) = adenosine 3',5'-bisphosphate + 2 H(+) + N-sulfo-alpha-D-glucosaminyl-[heparan sulfate](n).", "evidence": [ { "id": "Q02353", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q02353" } ] }, { "ec_number": "3.5.1.-", "activity": "", "evidence": [ { "id": "Q02353", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q02353" } ] } ] }, { "uniprot_ac": "Q3UHN9", "gene_name": "Ndst1", "activity": [ { "ec_number": "2.8.2.8", "activity": "3'-phosphoadenylyl sulfate + alpha-D-glucosaminyl-[heparan sulfate](n) = adenosine 3',5'-bisphosphate + 2 H(+) + N-sulfo-alpha-D-glucosaminyl-[heparan sulfate](n).", "evidence": [ { "id": "Q3UHN9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q3UHN9" } ] }, { "ec_number": "3.5.1.-", "activity": "", "evidence": [ { "id": "Q3UHN9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q3UHN9" } ] }, { "ec_number": "2.8.2.-", "activity": "", "evidence": [ { "id": "Q3UHN9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q3UHN9" } ] } ] }, { "uniprot_ac": "Q9EQH7", "gene_name": "Ndst3", "activity": [ { "ec_number": "2.8.2.-", "activity": "", "evidence": [ { "id": "Q9EQH7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9EQH7" } ] }, { "ec_number": "2.8.2.8", "activity": "3'-phosphoadenylyl sulfate + alpha-D-glucosaminyl-[heparan sulfate](n) = adenosine 3',5'-bisphosphate + 2 H(+) + N-sulfo-alpha-D-glucosaminyl-[heparan sulfate](n).", "evidence": [ { "id": "Q9EQH7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9EQH7" } ] }, { "ec_number": "2.8.2.8", "activity": "", "evidence": [ { "id": "Q9EQH7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9EQH7" } ] }, { "ec_number": "3.-.-.-", "activity": "", "evidence": [ { "id": "Q9EQH7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9EQH7" } ] } ] }, { "uniprot_ac": "Q9EQW8", "gene_name": "Ndst4", "activity": [ { "ec_number": "2.8.2.-", "activity": "", "evidence": [ { "id": "Q9EQW8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9EQW8" } ] }, { "ec_number": "2.8.2.8", "activity": "3'-phosphoadenylyl sulfate + alpha-D-glucosaminyl-[heparan sulfate](n) = adenosine 3',5'-bisphosphate + 2 H(+) + N-sulfo-alpha-D-glucosaminyl-[heparan sulfate](n).", "evidence": [ { "id": "Q9EQW8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9EQW8" } ] }, { "ec_number": "3.-.-.-", "activity": "", "evidence": [ { "id": "Q9EQW8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9EQW8" } ] }, { "ec_number": "2.8.2.8", "activity": "", "evidence": [ { "id": "Q9EQW8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9EQW8" } ] } ] }, { "uniprot_ac": "Q9H3R1", "gene_name": "NDST4", "activity": [ { "ec_number": "2.8.2.8", "activity": "3'-phosphoadenylyl sulfate + alpha-D-glucosaminyl-[heparan sulfate](n) = adenosine 3',5'-bisphosphate + 2 H(+) + N-sulfo-alpha-D-glucosaminyl-[heparan sulfate](n).", "evidence": [ { "id": "Q9H3R1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9H3R1" } ] }, { "ec_number": "2.8.2.-", "activity": "", "evidence": [ { "id": "Q9H3R1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9H3R1" } ] }, { "ec_number": "3.-.-.-", "activity": "", "evidence": [ { "id": "Q9H3R1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9H3R1" } ] }, { "ec_number": "2.8.2.8", "activity": "", "evidence": [ { "id": "Q9H3R1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9H3R1" } ] } ] }, { "uniprot_ac": "Q9V3L1", "gene_name": "sfl", "activity": [ { "ec_number": "2.8.2.-", "activity": "", "evidence": [ { "id": "Q9V3L1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9V3L1" } ] }, { "ec_number": "3.-.-.-", "activity": "", "evidence": [ { "id": "Q9V3L1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9V3L1" } ] }, { "ec_number": "2.8.2.8", "activity": "3'-phosphoadenylyl sulfate + alpha-D-glucosaminyl-[heparan sulfate](n) = adenosine 3',5'-bisphosphate + 2 H(+) + N-sulfo-alpha-D-glucosaminyl-[heparan sulfate](n).", "evidence": [ { "id": "Q9V3L1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9V3L1" } ] }, { "ec_number": "2.8.2.8", "activity": "", "evidence": [ { "id": "Q9V3L1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9V3L1" } ] }, { "ec_number": "3.1.1.-", "activity": "", "evidence": [ { "id": "Q9V3L1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9V3L1" } ] } ] } ], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" } ], "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 6 }, { "field": "total_sites", "count": 6 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 6 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 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_predicted", "table_stats": [ { "field": "total", "count": 5 }, { "field": "total_sites", "count": 5 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 5 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 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": 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": 10 }, { "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": "publication", "table_stats": [ { "field": "total", "count": 25 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }