{ "uniprot_canonical_ac": "O95450-1", "uniprot_ac": "O95450", "uniprot_id": "ATS2_HUMAN", "mass": { "chemical_mass": 134755.0, "monoisotopic_mass": 134755.0 }, "refseq": { "ac": "NP_055059", "name": "A disintegrin and metalloproteinase with thrombospondin motifs 2 isoform 1 preproprotein", "summary": "This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The encoded preproprotein is proteolytically processed to generate the mature procollagen N-proteinase. This proteinase excises the N-propeptide of the fibrillar procollagens types I-III and type V. Mutations in this gene cause Ehlers-Danlos syndrome type VIIC, a recessively inherited connective-tissue disorder. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Feb 2016].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055059" }, "gene_names": [ { "name": "ADAMTS2", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O95450", "id": "O95450" }, { "name": "ADAM-TS2; ADAMTS-2; ADAMTS-3; EDSDERMS; NPI; PC I-NP; PCI-NP; PCINP; PCPNI; PNPI", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055059", "id": "NP_055059" }, { "name": "ADAMTS2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055059", "id": "NP_055059" }, { "name": "PCINP", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O95450", "id": "O95450" }, { "name": "PCPNI", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O95450", "id": "O95450" } ], "protein_names": [ { "name": "A disintegrin and metalloproteinase with thrombospondin motifs 2", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O95450" }, { "name": "3.4.24.14", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95450" }, { "name": "A disintegrin and metalloproteinase with thrombospondin motifs 2 isoform 1 preproprotein", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055059", "id": "NP_055059" }, { "name": "ADAM-TS 2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95450" }, { "name": "ADAM-TS2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95450" }, { "name": "ADAMTS-2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95450" }, { "name": "PC I-NP", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95450" }, { "name": "Procollagen I N-proteinase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95450" }, { "name": "Procollagen I/II amino propeptide-processing enzyme", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95450" }, { "name": "Procollagen N-endopeptidase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95450" }, { "name": "pNPI", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95450" }, { "name": "procollagen I N-proteinase; a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2; a disintegrin and metalloproteinase with thrombospondin motifs 2; procollagen N-endopeptidase; procollagen I/II amino propeptide-processing enzyme", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055059", "id": "NP_055059" } ], "function": [ { "annotation": "ADAMTS12, a new candidate gene for pediatric stroke. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_055059", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055059" }, { "database": "PubMed", "id": "32817637", "url": "https://glygen.org/publication/PubMed/32817637" } ] }, { "annotation": "Cleaves the propeptides of type I and II collagen prior to fibril assembly (By similarity). Does not act on type III collagen (By similarity). Cleaves lysyl oxidase LOX at a site downstream of its propeptide cleavage site to produce a short LOX form with reduced collagen-binding activity (PubMed:31152061).", "evidence": [ { "database": "UniProtKB", "id": "O95450", "url": "https://www.uniprot.org/uniprot/O95450#function" }, { "database": "PubMed", "id": "31152061", "url": "https://glygen.org/publication/PubMed/31152061" }, { "database": "UniProtKB", "id": "P79331", "url": "https://www.uniprot.org/uniprot/P79331#function" } ] }, { "annotation": "Data indicate that ADAMTS2 and 3 cleave the amino-propeptide of fibrillar collagens and regulate blood vessels homeostasis and lymphangiogenesis. Also, ADAMTS2 deficiency leads to the dermatosparactic type of Ehlers-Danlos syndrome. [review] Review article", "evidence": [ { "database": "RefSeq", "id": "NP_055059", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055059" }, { "database": "PubMed", "id": "25863161", "url": "https://glygen.org/publication/PubMed/25863161" } ] }, { "annotation": "Determination of the processing, activity and cleavage specificity of the bovine ADAMTS2 protein.", "evidence": [ { "database": "RefSeq", "id": "NP_055059", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055059" }, { "database": "PubMed", "id": "16046392", "url": "https://glygen.org/publication/PubMed/16046392" } ] }, { "annotation": "Genome-wide association study of early ischaemic stroke risk in Brazilian individuals with sickle cell disease implicates ADAMTS2 and CDK18 and uncovers novel loci.", "evidence": [ { "database": "RefSeq", "id": "NP_055059", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055059" }, { "database": "PubMed", "id": "36602125", "url": "https://glygen.org/publication/PubMed/36602125" } ] }, { "annotation": "Mutations in the TBX15-ADAMTS2 pathway associate with a novel soft palate dysplasia.", "evidence": [ { "database": "RefSeq", "id": "NP_055059", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055059" }, { "database": "PubMed", "id": "36124393", "url": "https://glygen.org/publication/PubMed/36124393" } ] }, { "annotation": "Opposing roles for ADAMTS2 and ADAMTS14 in myofibroblast differentiation and function.", "evidence": [ { "database": "RefSeq", "id": "NP_055059", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055059" }, { "database": "PubMed", "id": "37929635", "url": "https://glygen.org/publication/PubMed/37929635" } ] }, { "annotation": "This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The encoded preproprotein is proteolytically processed to generate the mature procollagen N-proteinase. This proteinase excises the N-propeptide of the fibrillar procollagens types I-III and type V. Mutations in this gene cause Ehlers-Danlos syndrome type VIIC, a recessively inherited connective-tissue disorder. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Feb 2016].", "evidence": [ { "database": "RefSeq", "id": "NP_055059", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055059" } ] } ], "disease": [ { "disease_id": "DOID:0080733", "recommended_name": { "id": "DOID:0080733", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080733", "name": "Ehlers-Danlos syndrome dermatosparaxis type", "description": "An Ehlers-Danlos syndrome that is characterized by severe skin fragility, sagging, redundant skin and that has_material_basis_in mutation in the gene encoding the procollagen protease ADAMTS2 on chromosome 5q35." }, "synonyms": [ { "id": "MONDO:0009161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009161", "name": "Ehlers-Danlos syndrome, dermatosparaxis type", "description": "A form of Ehlers-Danlos syndrome (EDS) characterized by extreme skin fragility and laxity, a prominent facial gestalt, excessive bruising and, sometimes, major complications due to visceral and vascular fragility." }, { "id": "MONDO:0009161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009161", "name": "EDS VIIC", "description": "" }, { "id": "MONDO:0009161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009161", "name": "Ehlers-Danlos syndrome type 7C", "description": "" }, { "id": "MONDO:0009161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009161", "name": "Ehlers-Danlos syndrome, dermatosparaxis type", "description": "" }, { "id": "MONDO:0009161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009161", "name": "EDS 7C", "description": "" }, { "id": "MONDO:0009161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009161", "name": "EDS7C", "description": "" }, { "id": "MONDO:0009161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009161", "name": "EDSDERMS", "description": "" }, { "id": "MONDO:0009161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009161", "name": "Ehlers-Danlos syndrome type 7C (formerly)", "description": "" }, { "id": "MONDO:0009161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009161", "name": "Ehlers-Danlos syndrome, type VII, autosomal recessive", "description": "" }, { "id": "MONDO:0009161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009161", "name": "dEDS", "description": "" }, { "id": "MONDO:0009161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009161", "name": "dermatosparaxis", "description": "" }, { "id": "MONDO:0009161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009161", "name": "dermatosparaxis EDS", "description": "" }, { "id": "MONDO:0009161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009161", "name": "dermatosparaxis Ehlers-Danlos syndrome", "description": "" }, { "id": "MIM:225410", "resource": "MIM", "url": "https://www.omim.org/entry/225410", "name": "Ehlers-Danlos syndrome, dermatosparaxis type", "description": "Ehlers-Danlos syndrome, dermatosparaxis type" } ], "evidence": [ { "id": "225410", "database": "MIM", "url": "https://www.omim.org/entry/225410" } ] } ], "snv": [ { "evidence": [ { "id": "rs775312777", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775312777" }, { "id": "rs775312777", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775312777" }, { "id": "rs775312777", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs775312777#frequency_tab" }, { "id": "rs775312777", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs775312777" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 1031, "end_pos": 1031, "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NIS->DIS).", "chr_id": "5", "chr_pos": "179121748", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N1031", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs746024135", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746024135" }, { "id": "rs746024135", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746024135" }, { "id": "rs746024135", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs746024135" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 1033, "end_pos": 1033, "sequence_org": "S", "sequence_mut": "L", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NIS->NIL).", "chr_id": "5", "chr_pos": "179121741", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S1033", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs957771345", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs957771345" }, { "id": "rs957771345", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs957771345#frequency_tab" }, { "id": "rs957771345", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs957771345" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 1033, "end_pos": 1033, "sequence_org": "S", "sequence_mut": "P", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NIS->NIP).", "chr_id": "5", "chr_pos": "179121742", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S1033", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1561762201", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1561762201" }, { "id": "rs1561762201", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1561762201" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1066, "end_pos": 1066, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DKS->NKS).", "chr_id": "5", "chr_pos": "179114307", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D1066", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1413279287", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1413279287" }, { "id": "rs1413279287", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1413279287#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 1098, "end_pos": 1098, "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NLT->KLT).", "chr_id": "5", "chr_pos": "179114209", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N1098", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs979699810", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs979699810" }, { "id": "rs979699810", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs979699810#frequency_tab" }, { "id": "rs979699810", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs979699810" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 1099, "end_pos": 1099, "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NLT->NPT).", "chr_id": "5", "chr_pos": "179114207", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L1099", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1448153128", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1448153128" }, { "id": "rs1448153128", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1448153128" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 1100, "end_pos": 1100, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NLT->NLI).", "chr_id": "5", "chr_pos": "179114204", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T1100", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs368462217", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs368462217" }, { "id": "rs368462217", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs368462217" }, { "id": "rs368462217", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs368462217#frequency_tab" }, { "id": "rs368462217", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs368462217" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1127, "end_pos": 1127, "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->N).", "chr_id": "5", "chr_pos": "179114123", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T1127", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs763432883", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763432883" }, { "id": "rs763432883", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763432883" }, { "id": "rs763432883", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs763432883" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 112, "end_pos": 112, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NVT->SVT).", "chr_id": "5", "chr_pos": "179343966", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N112", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1272405803", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1272405803" }, { "id": "rs1272405803", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1272405803" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 1145, "end_pos": 1145, "sequence_org": "N", "sequence_mut": "Y", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NAS->YAS).", "chr_id": "5", "chr_pos": "179114070", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N1145", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs754973407", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754973407" }, { "id": "rs754973407", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754973407" }, { "id": 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"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", 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"MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O95450", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95450" } ], "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": 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"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", 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"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": 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cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", 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Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O95450", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95450" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95450" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ 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"name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O95450", "url": "https://www.uniprot.org/uniprot/O95450" } ], "common_name": "Human" } ], "gene": [ { "name": "ADAMTS2", "url": "https://www.uniprot.org/uniprot/O95450", "locus": { "chromosome": "5", "start_pos": 179110853, "end_pos": 179345461, "strand": "+", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000087116", "url": "https://www.ensembl.org/id/ENSG00000087116" } ] } } ], "crossref": [ { "id": "ENSG00000087116", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000087116", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "3.4.24.14", "url": "https://www.brenda-enzymes.org/enzyme.php?ecno=3.4.24.14&UniProtAcc=O95450", "database": "BRENDA", "categories": [ "Enzyme and Pathway" ] }, { "id": "cd04273", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd04273", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "ADAMTS2", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAMTS2", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "9509", "url": "https://www.ncbi.nlm.nih.gov/gene/9509", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "218", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=218", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "O95450", "url": "https://www.ebi.ac.uk/intact/interactors/id:O95450*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR000884", "url": "https://www.ebi.ac.uk/interpro/entry/IPR000884", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR001590", "url": "https://www.ebi.ac.uk/interpro/entry/IPR001590", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR002870", "url": "https://www.ebi.ac.uk/interpro/entry/IPR002870", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR010294", "url": "https://www.ebi.ac.uk/interpro/entry/IPR010294", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR010909", "url": "https://www.ebi.ac.uk/interpro/entry/IPR010909", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR013273", "url": "https://www.ebi.ac.uk/interpro/entry/IPR013273", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR013275", "url": "https://www.ebi.ac.uk/interpro/entry/IPR013275", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR024079", "url": "https://www.ebi.ac.uk/interpro/entry/IPR024079", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR036383", "url": "https://www.ebi.ac.uk/interpro/entry/IPR036383", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR041645", "url": "https://www.ebi.ac.uk/interpro/entry/IPR041645", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR045371", "url": "https://www.ebi.ac.uk/interpro/entry/IPR045371", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:9509", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:9509", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "225410", "url": "http://www.omim.org/entry/225410", "database": "MIM", "categories": [ "Other" ] }, { "id": "604539", "url": "http://www.omim.org/entry/604539", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_O95450", "url": "https://www.nextprot.org/entry/NX_O95450", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "NDDNRET", "url": "https://omabrowser.org/oma/group/NDDNRET/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "2910701at2759", "url": "http://www.orthodb.org/?query=2910701at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR13723", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR13723", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR13723:SF141", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR13723:SF141", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF00090", "url": "http://pfam.xfam.org/family/PF00090", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF01421", "url": "http://pfam.xfam.org/family/PF01421", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF01562", "url": "http://pfam.xfam.org/family/PF01562", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF05986", "url": "http://pfam.xfam.org/family/PF05986", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF17771", "url": "http://pfam.xfam.org/family/PF17771", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF19030", "url": "http://pfam.xfam.org/family/PF19030", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF19236", "url": "http://pfam.xfam.org/family/PF19236", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "O95450", "url": "https://pharos.nih.gov/targets/O95450", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR:000050920", "url": "https://proconsortium.org/app/entry/PR:000050920", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR_O95450", "url": "http://purl.obolibrary.org/obo/PR_O95450", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-1650814", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1650814", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-5083635", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5083635", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-5173214", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5173214", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_055059", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055059", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "O95450", "url": "DISABLED", "database": "UniCarbKB", "categories": [ "Glycoproteomics" ] }, { "id": "A0A1B0GTY3", "url": "https://www.uniprot.org/uniprot/A0A1B0GTY3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A1B0GTY3-1", "url": "https://www.uniprot.org/uniprot/A0A1B0GTY3-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8V8TMU7", "url": "https://www.uniprot.org/uniprot/A0A8V8TMU7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8V8TMU7-1", "url": "https://www.uniprot.org/uniprot/A0A8V8TMU7-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O95450", "url": "https://www.uniprot.org/uniprot/O95450", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O95450-1", "url": "https://www.uniprot.org/uniprot/O95450-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O95450-2", "url": "https://www.uniprot.org/uniprot/O95450-2", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MDPPAGAARRLLCPALLLLLLLLPPPLLPPPPPPANARLAAAADPPGGPLGHGAERILAVPVRTDAQGRLVSHVVSAATSRAGVRARRAAPVRTPSFPGGNEEEPGSHLFYNVTVFGRDLHLRLRPNARLVAPGATMEWQGEKGTTRVEPLLGSCLYVGDVAGLAEASSVALSNCDGLAGLIRMEEEEFFIEPLEKGLAAQEAEQGRVHVVYRRPPTSPPLGGPQALDTGASLDSLDSLSRALGVLEEHANSSRRRARRHAADDDYNIEVLLGVDDSVVQFHGKEHVQKYLLTLMNIVNEIYHDESLGAHINVVLVRIILLSYGKSMSLIEIGNPSQSLENVCRWAYLQQKPDTGHDEYHDHAIFLTRQDFGPSGMQGYAPVTGMCHPVRSCTLNHEDGFSSAFVVAHETGHVLGMEHDGQGNRCGDEVRLGSIMAPLVQAAFHRFHWSRCSQQELSRYLHSYDCLLDDPFAHDWPALPQLPGLHYSMNEQCRFDFGLGYMMCTAFRTFDPCKQLWCSHPDNPYFCKTKKGPPLDGTMCAPGKHCFKGHCIWLTPDILKRDGSWGAWSPFGSCSRTCGTGVKFRTRQCDNPHPANGGRTCSGLAYDFQLCSRQDCPDSLADFREEQCRQWDLYFEHGDAQHHWLPHEHRDAKERCHLYCESRETGEVVSMKRMVHDGTRCSYKDAFSLCVRGDCRKVGCDGVIGSSKQEDKCGVCGGDNSHCKVVKGTFTRSPKKHGYIKMFEIPAGARHLLIQEVDATSHHLAVKNLETGKFILNEENDVDASSKTFIAMGVEWEYRDEDGRETLQTMGPLHGTITVLVIPVGDTRVSLTYKYMIHEDSLNVDDNNVLEEDSVVYEWALKKWSPCSKPCGGGSQFTKYGCRRRLDHKMVHRGFCAALSKPKAIRRACNPQECSQPVWVTGEWEPCSQTCGRTGMQVRSVRCIQPLHDNTTRSVHAKHCNDARPESRRACSRELCPGRWRAGPWSQCSVTCGNGTQERPVLCRTADDSFGICQEERPETARTCRLGPCPRNISDPSKKSYVVQWLSRPDPDSPIRKISSKGHCQGDKSIFCRMEVLSRYCSIPGYNKLCCKSCNLYNNLTNVEGRIEPPPGKHNDIDVFMPTLPVPTVAMEVRPSPSTPLEVPLNASSTNATEDHPETNAVDEPYKIHGLEDEVQPPNLIPRRPSPYEKTRNQRIQELIDEMRKKEMLGKF", "length": 1211, "header": "sp|O95450-1|ATS2_HUMAN Isoform 1 of A disintegrin and metalloproteinase with thrombospondin motifs 2 OS=Homo sapiens OX=9606 GN=ADAMTS2 PE=2 SV=2 CANONICAL=O95450-1" }, "isoforms": [ { "isoform_ac": "A0A1B0GTY3-1", "url": "", "sequence": { "sequence": "MDPPAGAARRLLCPALLLLLLLLPPPLLPPPPPPANARLAAAADPPGGPLGHGAERILAVPVRTDAQGRLVSHVVSAATSRAGVRARRAAPVRTPSFPGGNEEEPGSHLFYNVTVFGRDLHLRLRPNARLVAPGATMEWQGEKGTTRVEPLLGSCLYVGDVAGLAEASSVALSNCDGLAGLIRMEEEEFFIEPLEKGLAAQEAEQGRVHVVYRRPPTSPPLGGPQALDTGASLDSLDSLSRALGVLEEHANSSRRRARRHAADDDYNIEVLLGVDDSVVQFHGKEHVQKYLLTLMNIVNEIYHDESLGAHINVVLVRIILLSYGKSMSLIEIGNPSQSLENVCRWAYLQQKPDTGHDEYHDHAIFLTRQDFGPSGMQGYAPVTGMCHPVRSCTLNHEDGFSSAFVVAHETGHVLGMEHDGQGNRCGDEVRLGSIMAPLVQAAFHRFHWSRCSQQELSRYLHSYDCLLDDPFAHDWPALPQLPGLHYSMNEQCRFDFGLGYMMCTAFRTFDPCKQLWCSHPDNPYFCKTKKGPPLDGTMCAPGKHCFKGHCIWLTPDILKRDGSWGAWSPFGSCSRTCGTGVKFRTRQCDNPHPANGGRTCSGLAYDFQLCSRQDCPDSLADFREEQCRQWDLYFEHGDAQHHWLPHEHRDAKERCHLYCESRETGEVVSMKRMVHDGTRCSYKDAFSLCVRGDCRKVGCDGVIGSSKQEDKCGVCGGDNSHCKVVKGTFTRSPKKHGYIKMFEIPAGARHLLIQEVDATSHHLAVKNLETGKFILNEENDVDASSKTFIAMGVEWEYRDEDGRETLQTMGPLHGTITVLVIPVGDTRVSLTYKYMIHEDSLNVDDNNVLEEDSVVYEWALKKWSPCSKPCGGGSQFTKYGCRRRLDHKMVHRGFCAALSKPKAIRRACNPQECSQPVWVTGEWEPCSQTCGRTGMQVRSVRCIQPLHDNTTRSVHAKHCNDARPESRRACSRELCPGRWRAGPWSQCSVTCGNGTQERPVLCRTADDSFGICQEERPETARTCRLGPCPRNISDPSKKSYVVQWLSRPDPDSPIRKISSSNRPVYNSASALQCMPCALWSLPWAPLLSVYGKLP", "length": 1094, "header": "tr|A0A1B0GTY3-1|ATS2_HUMAN Computationally mapped isoform of A disintegrin and metalloproteinase with thrombospondin motifs 2 OS=Homo sapiens OX=9606 GN=ADAMTS2 PE=2 SV=2 CANONICAL=O95450-1" }, "locus": { "chromosome": "5", "start_pos": 179345328, "end_pos": 179121557, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000518335.3", "url": "https://www.ensembl.org/id/ENST00000518335.3" }, { "database": "Ensembl Peptide", "id": "ENSP00000489888.2", "url": "https://www.ensembl.org/id/ENSP00000489888.2" } ] } }, { "isoform_ac": "A0A8V8TMU7-1", "url": "", "sequence": { "sequence": "MDPPAGAARRLLCPALLLLLLLLPPPLLPPPPPPANARLAAAADPPGGPLGHGAERILAVPVRTDAQGRLVSHVVSAATSRAGVRARRAAPVRTPSFPGGNEEEPGSHLFYNVTVFGRDLHLRLRPNARLVAPGATMEWQGEKGTTRVEPLLGSCLYVGDVAGLAEASSVALSNCDGLAGLIRMEEEEFFIEPLEKGLAAQEAEQGRVHVVYRRPPTSPPLGGPQALDTGASLDSLDSLSRALGVLEEHANSSRRRARRHAADDDYNIEVLLGVDDSVVQFHGKEHVQKYLLTLMNIVNEIYHDESLGAHINVVLVRIILLSYGKSMSLIEIGNPSQSLENVCRWAYLQQKPDTGHDEYHDHAIFLTRQDFGPSGMQGYAPVTGMCHPVRSCTLNHEDGFSSAFVVAHETGHVLGMEHDGQGNRCGDEVRLGSIMAPLVQAAFHRFHWSRCSQQELSRYLHSYDCLLDDPFAHDWPALPQLPGLHYSMNEQCRFDFGLGYMMCTAFRTFDPCKQLWCSHPDNPYFCKTKKGPPLDGTMCAPGKHCFKGHCIWLTPDILKRDGSWGAWSPFGSCSRTCGTGVKFRTRQCDNPHPANGGRTCSGLAYDFQLCSRQDCPDSLADFREEQCRQWDLYFEHGDAQHHWLPHEHRDAKERCHLYCESRETGEVVSMKRMVHDGTRCSYKDAFSLCVRGDCRKVGCDGVIGSSKQEDKCGVCGGDNSHCKVVKGTFTRSPKKHGYIKMFEIPAGARHLLIQEVDATSHHLAVKNLETGKFILNEENDVDASSKTFIAMGVEWEYRDEDGRETLQTMGPLHGTITVLVIPVGDTRVSLTYKYMIHEDSLNVDDNNVLEEDSVVYEWALKKWSPCSKPCGGGSQFTKYGCRRRLDHKMVHRGFCAALSKPKAIRRACNPQECSQPVWVTGEWEPCSQTCGRTGMQVRSVRCIQPLHDNTTRSVHAKHCNDARPESRRACSRELCPGRWRAGPWSQVRNPPIPCPQLQN", "length": 999, "header": "tr|A0A8V8TMU7-1|A0A8V8TMU7_HUMAN Computationally mapped isoform of ADAM metallopeptidase with thrombospondin type 1 motif 2 OS=Homo sapiens OX=9606 GN=ADAMTS2 PE=1 SV=1 CANONICAL=O95450-1" }, "locus": { "chromosome": "5", "start_pos": 179345328, "end_pos": 179124934, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000698889.1", "url": "https://www.ensembl.org/id/ENST00000698889.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000514008.1", "url": "https://www.ensembl.org/id/ENSP00000514008.1" } ] } }, { "isoform_ac": "O95450-1", "url": "", "sequence": { "sequence": "MDPPAGAARRLLCPALLLLLLLLPPPLLPPPPPPANARLAAAADPPGGPLGHGAERILAVPVRTDAQGRLVSHVVSAATSRAGVRARRAAPVRTPSFPGGNEEEPGSHLFYNVTVFGRDLHLRLRPNARLVAPGATMEWQGEKGTTRVEPLLGSCLYVGDVAGLAEASSVALSNCDGLAGLIRMEEEEFFIEPLEKGLAAQEAEQGRVHVVYRRPPTSPPLGGPQALDTGASLDSLDSLSRALGVLEEHANSSRRRARRHAADDDYNIEVLLGVDDSVVQFHGKEHVQKYLLTLMNIVNEIYHDESLGAHINVVLVRIILLSYGKSMSLIEIGNPSQSLENVCRWAYLQQKPDTGHDEYHDHAIFLTRQDFGPSGMQGYAPVTGMCHPVRSCTLNHEDGFSSAFVVAHETGHVLGMEHDGQGNRCGDEVRLGSIMAPLVQAAFHRFHWSRCSQQELSRYLHSYDCLLDDPFAHDWPALPQLPGLHYSMNEQCRFDFGLGYMMCTAFRTFDPCKQLWCSHPDNPYFCKTKKGPPLDGTMCAPGKHCFKGHCIWLTPDILKRDGSWGAWSPFGSCSRTCGTGVKFRTRQCDNPHPANGGRTCSGLAYDFQLCSRQDCPDSLADFREEQCRQWDLYFEHGDAQHHWLPHEHRDAKERCHLYCESRETGEVVSMKRMVHDGTRCSYKDAFSLCVRGDCRKVGCDGVIGSSKQEDKCGVCGGDNSHCKVVKGTFTRSPKKHGYIKMFEIPAGARHLLIQEVDATSHHLAVKNLETGKFILNEENDVDASSKTFIAMGVEWEYRDEDGRETLQTMGPLHGTITVLVIPVGDTRVSLTYKYMIHEDSLNVDDNNVLEEDSVVYEWALKKWSPCSKPCGGGSQFTKYGCRRRLDHKMVHRGFCAALSKPKAIRRACNPQECSQPVWVTGEWEPCSQTCGRTGMQVRSVRCIQPLHDNTTRSVHAKHCNDARPESRRACSRELCPGRWRAGPWSQCSVTCGNGTQERPVLCRTADDSFGICQEERPETARTCRLGPCPRNISDPSKKSYVVQWLSRPDPDSPIRKISSKGHCQGDKSIFCRMEVLSRYCSIPGYNKLCCKSCNLYNNLTNVEGRIEPPPGKHNDIDVFMPTLPVPTVAMEVRPSPSTPLEVPLNASSTNATEDHPETNAVDEPYKIHGLEDEVQPPNLIPRRPSPYEKTRNQRIQELIDEMRKKEMLGKF", "length": 1211, "header": "sp|O95450-1|ATS2_HUMAN Isoform 1 of A disintegrin and metalloproteinase with thrombospondin motifs 2 OS=Homo sapiens OX=9606 GN=ADAMTS2 PE=2 SV=2 CANONICAL=O95450-1" }, "locus": { "chromosome": "5", "start_pos": 179345328, "end_pos": 179113870, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000251582.12", "url": "https://www.ensembl.org/id/ENST00000251582.12" }, { "database": "Ensembl Peptide", "id": "ENSP00000251582.7", "url": "https://www.ensembl.org/id/ENSP00000251582.7" } ] } }, { "isoform_ac": "O95450-2", "url": "", "sequence": { "sequence": "MDPPAGAARRLLCPALLLLLLLLPPPLLPPPPPPANARLAAAADPPGGPLGHGAERILAVPVRTDAQGRLVSHVVSAATSRAGVRARRAAPVRTPSFPGGNEEEPGSHLFYNVTVFGRDLHLRLRPNARLVAPGATMEWQGEKGTTRVEPLLGSCLYVGDVAGLAEASSVALSNCDGLAGLIRMEEEEFFIEPLEKGLAAQEAEQGRVHVVYRRPPTSPPLGGPQALDTGASLDSLDSLSRALGVLEEHANSSRRRARRHAADDDYNIEVLLGVDDSVVQFHGKEHVQKYLLTLMNIVNEIYHDESLGAHINVVLVRIILLSYGKSMSLIEIGNPSQSLENVCRWAYLQQKPDTGHDEYHDHAIFLTRQDFGPSGMQGYAPVTGMCHPVRSCTLNHEDGFSSAFVVAHETGHVLGMEHDGQGNRCGDEVRLGSIMAPLVQAAFHRFHWSRCSQQELSRYLHSYDCLLDDPFAHDWPALPQLPGLHYSMNEQCRFDFGLGYMMCTAFRTFDPCKQLWCSHPDNPYFCKTKKGPPLDGTMCAPGKFRPGAVAHACYPSTLGGQGRWIA", "length": 566, "header": "sp|O95450-2|ATS2_HUMAN Isoform 2 of A disintegrin and metalloproteinase with thrombospondin motifs 2 OS=Homo sapiens OX=9606 GN=ADAMTS2 PE=2 SV=2 CANONICAL=O95450-1" }, "locus": { "chromosome": "5", "start_pos": 179345328, "end_pos": 179151132, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000274609.5", "url": "https://www.ensembl.org/id/ENST00000274609.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000274609.5", "url": "https://www.ensembl.org/id/ENSP00000274609.5" } ] } } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 1031, "start_aa": "Asn", "end_pos": 1031, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1031", "evidence": [ { "id": "O95450", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O95450#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 1098, "start_aa": "Asn", "end_pos": 1098, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1098", "evidence": [ { "id": "O95450", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O95450#ptm_processing" } ] }, { "glytoucan_ac": "G43417UB", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "", "start_pos": 1127, "start_aa": "Thr", "end_pos": 1127, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1127", "evidence": [ { "id": "O95450", "database": "UniCarbKB", "url": "" }, { "id": "30459171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30459171" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 112, "start_aa": "Asn", "end_pos": 112, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn112", "evidence": [ { "id": "O95450", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O95450#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) 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"reference": [ { "type": "PubMed", "id": "25863161", "url": "https://glygen.org/publication/PubMed/25863161" } ] }, { "title": "Mapping the O-glycoproteome using site-specific extraction of O-linked glycopeptides (EXoO).", "journal": "Molecular systems biology", "date": "2018", "authors": "Yang W, Ao M, Hu Y, Li QK, Zhang H", "evidence": [ { "database": "UniCarbKB", "id": "O95450", "url": "" } ], "reference": [ { "type": "PubMed", "id": "30459171", "url": "https://glygen.org/publication/PubMed/30459171" } ] }, { "title": "Differential cleavage of lysyl oxidase by the metalloproteinases BMP1 and ADAMTS2/14 regulates collagen binding through a tyrosine sulfate domain.", "journal": "The Journal of biological chemistry", "date": "2019", "authors": "Rosell-Garcia T, Paradela A, Bravo G, Dupont L, Bekhouche M, Colige A, Rodriguez-Pascual F", "evidence": [ { "database": "UniProtKB", "id": "O95450", "url": "https://www.uniprot.org/uniprot/O95450" } ], "reference": [ { "type": "PubMed", "id": "31152061", "url": "https://glygen.org/publication/PubMed/31152061" } ] }, { "title": "Defective co-translational formation of disulphide bonds in protein disulphide-isomerase-deficient microsomes.", "journal": "Nature", "date": "1988", "authors": "Bulleid NJ, Freedman RB", "evidence": [ { "database": "Reactome", "id": "R-HSA-1650814", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1650814" } ], "reference": [ { "type": "PubMed", "id": "3173483", "url": "https://glygen.org/publication/PubMed/3173483" } ] }, { "title": "ADAMTS12, a new candidate gene for pediatric stroke.", "journal": "PloS one", "date": "2020", "authors": "Witten A, Ruhle F, de Witt M, Barysenka A, Stach M, Junker R, Nowak-Gottl U, Stoll M", "evidence": [ { "database": "RefSeq", "id": "NP_055059", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055059" } ], "reference": [ { "type": "PubMed", "id": "32817637", "url": "https://glygen.org/publication/PubMed/32817637" } ] }, { "title": "Mutations in the TBX15-ADAMTS2 pathway associate with a novel soft palate dysplasia.", "journal": "Human mutation", "date": "2022-12", "authors": "Zhang Yuying, Li Jian, Ji Yaoting, Cheng Yibin, Fu Xiazhou", "evidence": [ { "database": "RefSeq", "id": "NP_055059", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055059" } ], "reference": [ { "type": "PubMed", "id": "36124393", "url": "https://glygen.org/publication/PubMed/36124393" } ] }, { "title": "Genome-wide association study of early ischaemic stroke risk in Brazilian individuals with sickle cell disease implicates ADAMTS2 and CDK18 and uncovers novel loci.", "journal": "British journal of haematology", "date": "2023-04", "authors": "Earley Eric Jay, Kelly Shannon, Fang Fang, Alencar Cec\u00edlia Salete, Rodrigues Daniela de Oliveira Werneck, Soares Cruz Dahra Teles, Flanagan Jonathan M, Ware Russell E, Zhang Xu, Gordeuk Victor, Gladwin Mark, Zhang Yingze, Nouraie Mehdi, Nekhai Sergei, Sabino Ester, Custer Brian, Dinardo Carla, Page Grier P,", "evidence": [ { "database": "RefSeq", "id": "NP_055059", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055059" } ], "reference": [ { "type": "PubMed", "id": "36602125", "url": "https://glygen.org/publication/PubMed/36602125" } ] }, { "title": "Opposing roles for ADAMTS2 and ADAMTS14 in myofibroblast differentiation and function.", "journal": "The Journal of pathology", "date": "2024-01", "authors": "Carter Edward P, Yoneten Kubra K, Gavara Nuria, Tyler Eleanor J, Gauthier Valentine, Murray Elizabeth R, Ten Dijke Peter, Cameron Angus J, Pearce Oliver, Grose Richard P", "evidence": [ { "database": "RefSeq", "id": "NP_055059", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055059" } ], "reference": [ { "type": "PubMed", "id": "37929635", "url": "https://glygen.org/publication/PubMed/37929635" } ] }, { "title": "Type I procollagen carboxyl-terminal proteinase from chick embryo tendons. Purification and characterization.", "journal": "The Journal of biological chemistry", "date": "1985", "authors": "Hojima Y, van der Rest M, Prockop DJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-1650814", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1650814" } ], "reference": [ { "type": "PubMed", "id": "3905801", "url": "https://glygen.org/publication/PubMed/3905801" } ] }, { "title": "Structure and macromolecular organization of type VI collagen.", "journal": "Annals of the New York Academy of Sciences", "date": "1985", "authors": "Engel J, Furthmayr H, Odermatt E, von der Mark H, Aumailley M, Fleischmajer R, Timpl R", "evidence": [ { "database": "Reactome", "id": "R-HSA-1650814", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1650814" } ], "reference": [ { "type": "PubMed", "id": "3938630", "url": "https://glygen.org/publication/PubMed/3938630" } ] }, { "title": "Electron-microscopical approach to a structural model of intima collagen.", "journal": "The Biochemical journal", "date": "1983", "authors": "Furthmayr H, Wiedemann H, Timpl R, Odermatt E, Engel J", "evidence": [ { "database": "Reactome", "id": "R-HSA-1650814", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1650814" } ], "reference": [ { "type": "PubMed", "id": "6307276", "url": "https://glygen.org/publication/PubMed/6307276" } ] }, { "title": "Human lysyl hydroxylase: purification to homogeneity, partial characterization and comparison of catalytic properties with those of a mutant enzyme from Ehlers-Danlos syndrome type VI fibroblasts.", "journal": "Collagen and related research", "date": "1981", "authors": "Turpeenniemi-Hujanen TM, Puistola U, Kivirikko KI", "evidence": [ { "database": "Reactome", "id": "R-HSA-1650814", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1650814" } ], "reference": [ { "type": "PubMed", "id": "6809411", "url": "https://glygen.org/publication/PubMed/6809411" } ] }, { "title": "The role of cis-trans isomerization of peptide bonds in the coil leads to and comes from triple helix conversion of collagen.", "journal": "European journal of biochemistry", "date": "1978", "authors": "Bachinger HP, Bruckner P, Timpl R, Engel J", "evidence": [ { "database": "Reactome", "id": "R-HSA-1650814", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1650814" } ], "reference": [ { "type": "PubMed", "id": "710450", "url": "https://glygen.org/publication/PubMed/710450" } ] }, { "title": "Cloning and characterization of a novel human lysyl hydroxylase isoform highly expressed in pancreas and muscle.", "journal": "The Journal of biological chemistry", "date": "1997", "authors": "Valtavaara M, Papponen H, Pirttila AM, Hiltunen K, Helander H, Myllyla R", "evidence": [ { "database": "Reactome", "id": "R-HSA-1650814", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1650814" } ], "reference": [ { "type": "PubMed", "id": "9054364", "url": "https://glygen.org/publication/PubMed/9054364" } ] }, { "title": "Protein disulfide isomerase acts as a molecular chaperone during the assembly of procollagen.", "journal": "The Journal of biological chemistry", "date": "1998", "authors": "Wilson R, Lees JF, Bulleid NJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-1650814", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1650814" } ], "reference": [ { "type": "PubMed", "id": "9545296", "url": "https://glygen.org/publication/PubMed/9545296" } ] }, { "title": "Thiol-independent interaction of protein disulphide isomerase with type X collagen during intra-cellular folding and assembly.", "journal": "The Biochemical journal", "date": "1998", "authors": "McLaughlin SH, Bulleid NJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-1650814", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1650814" } ], "reference": [ { "type": "PubMed", "id": "9560306", "url": "https://glygen.org/publication/PubMed/9560306" } ] }, { "title": "Primary structure, tissue distribution, and chromosomal localization of a novel isoform of lysyl hydroxylase (lysyl hydroxylase 3)", "journal": "The Journal of biological chemistry", "date": "1998", "authors": "Valtavaara M, Szpirer C, Szpirer J, Myllyla R", "evidence": [ { "database": "Reactome", "id": "R-HSA-1650814", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1650814" } ], "reference": [ { "type": "PubMed", "id": "9582318", "url": "https://glygen.org/publication/PubMed/9582318" } ] } ], "pathway": [ { "id": "hsa:9509", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:9509", "resource": "KEGG Pathway" }, { "id": "R-HSA-1650814", "name": "Collagen biosynthesis and modifying enzymes", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1650814", "resource": "Reactome", "description": "Collagen biosynthesis and modifying enzymes" }, { "id": "R-HSA-5083635", "name": "Defective B3GALTL causes PpS", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5083635", "resource": "Reactome", "description": "Defective B3GALTL causes PpS" }, { "id": "R-HSA-5173214", "name": "O-glycosylation of TSR domain-containing proteins", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5173214", "resource": "Reactome", "description": "O-glycosylation of TSR domain-containing proteins" } ], "orthologs": [ { "uniprot_canonical_ac": "D3ZTE7-1", "protein_name": "ADAM metallopeptidase with thrombospondin type 1 motif, 2", "gene_name": "Adamts2", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MDPPAGAARCLLCPALLLLLLLPPPPLLLLPPPPASARLVAATETPGGPPGYGAERILAVPVRTDAQGRLVSHVVSLETARAGVRARRAAPVQTSGLPGGAEQDPGGRLFYNLTVFGRDLHLRLRPNARLVAPGATVEWQGETGDTRVEPLLGTCLYVGDVADLPKTSSVALSNCDGLAGLIRMEEEEFFIEPLEKGQTDQEAEQGRVHVVYRRPPTPKPPPVGGPQALDTGASQGNLDSLSRALGVLEERINSSRRRVRRHATDDDYNIEVLLGVDDSVVQFHGKEHVQKYLLTLMNIVNEIYHDESLGAHINVVLVRIILLSHAKSMSLIEIGNPSQSLENVCRWAYLQQKPDTDHDEYHDHAIFLTRQDFGPSGMQGYAPVTGMCHPVRSCTLNHEDGFSSAFVVAHETGHVLGMEHDGQGNRCGDEVRLGSIMAPLVQAAFHRFHWSRCSQQELSRYLHSYDCLRDDPFAHDWPALPQLPGLHYSMNEQCRFDFGLGYMMCTAFRTFDPCKQLWCSHPDNPYFCKTKKGPPLDGTMCAPGKHCFKGHCIWLTPDILKRDGNWGAWTPFGSCSRTCGTGVKFRTRQCDSPHPANGGRTCSGLAYDFQLCNPQDCPNSLADFREEQCRQWDLYFEHGDAQHHWLPHEHRDAKERCHLYCESKETGEVVSMKRMVHDGTRCSYKDAFSLCVRGDCRKVGCDGVIGSRKQEDKCGVCGGDNTHCKVVKGTFTRSPRKQDYIKMFEIPAGARHLLIQETDTTSHHLSVKNLETGKFILNEENHLDPNSRSFIAMGVEWEYRNEDERETLQTIGPLHGTITVLVIPEGDARISLTYKYMIHEDSLNVDDNNVLEDDSVRHEWALKKWSPCSKPCGGGSQFTKYGCRRRLDSKMVHRAFCSALAKPKAIRRACNPQECSQPVWVTGEWEPCTQSCGRTGMQVRSVRCIQPLHNNTTRSVHTKHCNDHRPESRRACNRELCPGRWRAGSWSQCSVTCGNGTQERPVLCRTADDNFGVCQEERPETARICRLAPCPRNSSDPSKKSYVVQWLSRPDPDSPIQKISSKDQCQGDKSMFCRMEVLSRYCSIPSYNKLCCKSCSPNLGHAEDRGSEPPPGKHNDIDVFMPTLPGPTVATQVQPSPGPPLEAPLNVSIANATEDHPETNAVDVPYKIHGVDEEAQSPNLIPRRPSPYVKTRNQRIQELINAAQRKEKPGKF", "length": 1212 }, "evidence": [ { "id": "O95450", "url": "https://omabrowser.org/oma/group/O95450/", "database": "OMA" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "Q8C9W3-1", "protein_name": "A disintegrin and metalloproteinase with thrombospondin motifs 2", "gene_name": "Adamts2", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MDPPAGAARRLLCPALLLLLLPPPPLLLLPPPPASVRLVAATEPPGGPPGQGAERILAVPVRTDAQGRLVSHVVSLETAGAGVRARRAALDQTSGLPGGAAQDPGGRLFYNLTVFGRDLHLRLRPNARLVAPGATVEWQGETGDTRVEPLLGSCLYVGDVADLPKASSVALSNCDGLAGLIRMEEEEFFIEPLEKGQTDQEAEQGRVHVVYRRPPTPKPPPVSEPQALDTGVSQGNLDSLSRALGVLEERINSSRRRVRRHATDDDYNIEVLLGVDDSVVQFHGKEHVQKYLLTLMNIVNEIYHDESLGAHINVVLVRIILLSHAKSMSLIEIGNPSQSLENVCRWAYLQQKPDTDHDEYHDHAIFLTRQDFGPSGMQGYAPVTGMCHPVRSCTLNHEDGFSSAFVVAHETGHVLGMEHDGQGNRCGDEVRLGSIMAPLVQAAFHRFHWSRCSQQELSRYLHSYDCLRDDPFAHDWPALPQLPGLHYSMNEQCRFDFGLGYMMCTAFRTFDPCKQLWCSHPDNPYFCKTKKGPPLDGTMCAPGKHCFKGHCIWLTPDILKRDGNWGAWTPFGSCSRTCGTGVKFRTRQCDNPHPANGGRTCSGLAYDFQLCNPQDCPNSLADFREEQCQQWDLYFEHGDVQHHWLPHEHRDAKERCHLYCESKETGEVVSMKRMVHDGTRCSYKDAFSLCVRGDCRKVGCDGVIGSRKQEDKCGVCGGDNTHCKVVKGTFTRSPRKQDYIKMFEIPAGARHLLIQEADTTSHHLSVKNLETGKFILNEENHLDPNSRSFIAMGVEWEYRNEDERETLQTIGPLHGTITVLVIPEGDTRISLTYKYMIHEDSLNVDDNNVLEDDAVRHEWALKKWSPCSKPCGGGSQFTKYGCRRRLDSKMVHRAFCSALAKPKAIRRACNPQECSQPVWVTGEWEPCTQSCGRTGMQVRSVRCIQPLHNNTTRSVHTKHCNDHRPESRRACNRELCPGRWRAGSWSQCSVTCGNGTQERPVLCRTADDNFGVCREERPETARICRLAPCPRNGSDPSKKSYVVQWLSRPDPDSPIQKISSKDQCQGDKSMFCRMEVLSRYCSIPSYNKLCCKSCNPPRNLSNTEDGGVEPPPGKHNDIDVFMPTLPGPTVATQVQPSPGPPLEAPLNVSSTNATEDHPETNAVDVPYKIHGVDEEVPSPNLIPRRPSLYVKTRNQRIQELINAVQRKEKPGKF", "length": 1213 }, "evidence": [ { "id": "45921695", "url": "http://www.informatics.jax.org/homology/45921695", "database": "MGI" }, { "id": "O95450", "url": "https://omabrowser.org/oma/group/O95450/", "database": "OMA" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Molecular Function", "total": 3, "go_terms": [ { "name": "metalloendopeptidase activity", "id": "GO:0004222", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004222", "evidence": [ { "database": "UniProtKB", "id": "O95450", "url": "https://www.uniprot.org/uniprot/O95450" } ], "pmid": "" }, { "name": "metallopeptidase activity", "id": "GO:0008237", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008237", "evidence": [ { "database": "UniProtKB", "id": "O95450", "url": "https://www.uniprot.org/uniprot/O95450" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "O95450", "url": "https://www.uniprot.org/uniprot/O95450" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 3, "go_terms": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "O95450", "url": "https://www.uniprot.org/uniprot/O95450" } ], "pmid": "" }, { "name": "extracellular matrix", "id": "GO:0031012", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031012", "evidence": [ { "database": "UniProtKB", "id": "O95450", "url": "https://www.uniprot.org/uniprot/O95450" } ], "pmid": "" }, { "name": "collagen-containing extracellular matrix", "id": "GO:0062023", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0062023", "evidence": [ { "database": "UniProtKB", "id": "O95450", "url": "https://www.uniprot.org/uniprot/O95450" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 8, "go_terms": [ { "name": "spermatogenesis", "id": "GO:0007283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007283", "evidence": [ { "database": "UniProtKB", "id": "O95450", "url": "https://www.uniprot.org/uniprot/O95450" } ], "pmid": "" }, { "name": "protein processing", "id": "GO:0016485", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016485", "evidence": [ { "database": "UniProtKB", "id": "O95450", "url": "https://www.uniprot.org/uniprot/O95450" } ], "pmid": "" }, { "name": "extracellular matrix organization", "id": "GO:0030198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030198", "evidence": [ { "database": "UniProtKB", "id": "O95450", "url": "https://www.uniprot.org/uniprot/O95450" } ], "pmid": "" }, { "name": "lung development", "id": "GO:0030324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030324", "evidence": [ { "database": "UniProtKB", "id": "O95450", "url": "https://www.uniprot.org/uniprot/O95450" } ], "pmid": "" }, { "name": "collagen fibril organization", "id": "GO:0030199", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030199", "evidence": [ { "database": "UniProtKB", "id": "O95450", "url": "https://www.uniprot.org/uniprot/O95450" } ], "pmid": "" }, { "name": "skin development", "id": "GO:0043588", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043588", "evidence": [ { "database": "UniProtKB", "id": "O95450", "url": "https://www.uniprot.org/uniprot/O95450" } ], "pmid": "" }, { "name": "collagen catabolic process", "id": "GO:0030574", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030574", "evidence": [ { "database": "UniProtKB", "id": "O95450", "url": "https://www.uniprot.org/uniprot/O95450" } ], "pmid": "" }, { "name": "proteolysis", "id": "GO:0006508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006508", "evidence": [ { "database": "UniProtKB", "id": "O95450", "url": "https://www.uniprot.org/uniprot/O95450" } ], "pmid": "" } ] } ] }, "pro_annotation": [ { "name": "a disintegrin and metalloproteinase with thrombospondin motifs 2 O-glycosylated 1 (human)", "definition": "An a disintegrin and metalloproteinase with thrombospondin motifs 2 (human) that has been O-glycosylated at the residue equivalent to Thr-1127 of the amino acid sequence represented by UniProtKB:O95450-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:O95450-1, Thr-1127, MOD:00005~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000050920", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000050920" } ] } ], "site_annotation": [ { "start_pos": 1031, "end_pos": 1033, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1098, "end_pos": 1100, "annotation": "n_glycosylation_sequon" }, { "start_pos": 112, "end_pos": 114, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1145, "end_pos": 1147, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1150, "end_pos": 1152, "annotation": "n_glycosylation_sequon" }, { "start_pos": 251, "end_pos": 253, "annotation": "n_glycosylation_sequon" }, { "start_pos": 949, "end_pos": 951, "annotation": "n_glycosylation_sequon" }, { "start_pos": 993, "end_pos": 995, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [ { "id": "R-HSA-2002428", "name": "Removal of fibrillar collagen N-propeptides", "equation": "", "summary": "Fibrillar collagen is synthesized in the ER as procollagen with N- and C-terminal propeptides flanking the collagenous domain (Bellamy & Bornstein 1971). These propeptides, particularly the C-propeptide, inhibit fibril formation (Kadler et al. 1987). Type V collagen N-propeptide removal is partial, and reported to be mediated by BMP-1 which cleaves between the proline/arginine-rich protein domain and the variable domain of the alpha1 chain and between the small and the large collagenous domain of alpha3 chain (refs. in Colige et al. 2005). ; ; ; Mutations in procollagen peptide type V (COL5A1) can cause diseases such as Ehlers-Danlos Sydrome. Majority of the cases result from haploinsufficiency of COL5A1 protein that may lead to a disorganised extracellular matrix. Moreover, other mutations result in structural defects which may in turn result in defective collagen fibrils. The accumulation and interaction of this defective collagen fibrils may lead to ER stress and other complications in the cell (Takahara K et al. 2002, Symoens S et al. 2012).", "cellular_location": "extracellular region", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O95450-1", "P13497-1", "O15072-1", "Q8WXS8-1" ], "evidence": [ { "id": "R-HSA-2002428", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2002428" } ] }, { "id": "R-HSA-5173005", "name": "B3GALTL transfers glucose to O-fucosyl-proteins", "equation": "", "summary": "Human beta-1,3-glucosyltransferase-like protein (B3GALTL, HGNC Approved Gene Symbol: B3GLCT; MIM:610308; CAZy family GT31), localised on the ER membrane, glucosylates O-fucosylated proteins. The resultant glc-beta-1,3-fuc disaccharide modification on thrombospondin type 1 repeat (TSR1) domain-containing proteins is thought to assist in the secretion of many of these proteins from the ER lumen, and mediate an ER quality-control mechanism of folded TSRs (Vasudevan et al. 2015). Defects in B3GALTL can cause Peters plus syndrome (PpS; MIM:261540), an autosomal recessive disorder characterised by anterior eye chamber defects, short stature, delay in growth and mental developmental and cleft lip and/or palate (Heinonen & Maki 2009). More than 10 mutations in B3GALTL causing PsP are known (Weh et al. 2014) including the missense mutation G393E (Dassie Ajdid et al. 2009).", "cellular_location": "endoplasmic reticulum lumen, endoplasmic reticulum membrane", "input_participant_list": [ "R-ALL-173594" ], "output_participant_list": [], "enzyme_list": [ "P58397-1", "P59510-1", "Q76LX8-1", "Q8TE56-1", "Q8TE57-1", "Q9UNA0-1", "O95450-1", "Q8TE58-1", "Q9H324-1", "Q6Y288-1", "O15072-1", "O75173-1", "Q8TE59-1", "Q8TE60-1", "Q8WXS8-1", "Q9P2N4-3", "Q9UHI8-1", "Q9UKP4-1", "Q9UKP5-1", "Q9UP79-1" ], "evidence": [ { "id": "R-HSA-5173005", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5173005" } ] }, { "id": "R-HSA-5173192", "name": "POFUT2 transfers fucose to TSR domain-containing proteins", "equation": "", "summary": "The O-fucosylation of proteins containing thrombospondin type 1 repeat (TSR1) domains is carried out by protein fucosyltransferase 2 (POFUT2). Only POFUT2 recognises the consensus sequence CSXS/TCG found in TSR1 domains and the fucosyl residue is attached to the hydroxyl group of conserved serine (S) or threonine (T) residues within the consensus sequence (Chen et al. 2012). The modification was first demonstrated on thrombospondin 1 (THBS1, TSP1), found in platelets and the ECM (Hofsteenge et al. 2001, Luo et al. 2006). In humans, there are more than 60 of these TSR1 domain-containing proteins. Only the proteins with similarity to experimentally confirmed ones are listed as candidates.", "cellular_location": "endoplasmic reticulum lumen, endoplasmic reticulum membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q9Y2G5-3", "P58397-1", "P59510-1", "Q76LX8-1", "Q8TE56-1", "Q8TE57-1", "Q9UNA0-1", "O95450-1", "Q8TE58-1", "Q9H324-1", "O15072-1", "O75173-1", "Q8TE59-1", "Q8TE60-1", "Q8WXS8-1", "Q9P2N4-3", "Q9UHI8-1", "Q9UKP4-1", "Q9UKP5-1", "Q9UP79-1" ], "evidence": [ { "id": "R-HSA-5173192", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5173192" } ] }, { "id": "R-HSA-6785565", "name": "Defective B3GALTL does not transfer glucose to O-fucosyl-proteins", "equation": "", "summary": "Human beta-1,3-glucosyltransferase-like protein (B3GALTL, HGNC Approved Gene Symbol: B3GLCT; MIM:610308; CAZy family GT31), localised on the ER membrane, glucosylates O-fucosylated proteins. The resultant glc-beta-1,3-fuc disaccharide modification on thrombospondin type 1 repeat (TSR1) domain-containing proteins is thought to assist in the secretion of many of these proteins from the ER lumen, and mediate an ER quality-control mechanism of folded TSRs (Vasudevan et al. 2015). Defects in B3GALTL can cause Peters plus syndrome (PpS; MIM:261540), an autosomal recessive disorder characterised by anterior eye chamber defects, short stature, delay in growth and mental developmental and cleft lip and/or palate (Heinonen & Maki 2009). More than 10 mutations in B3GALTL causing PsP are known (Weh et al. 2014) including the missense mutation G393E (Dassie Ajdid et al. 2009).", "cellular_location": "endoplasmic reticulum lumen, endoplasmic reticulum membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P58397-1", "P59510-1", "Q76LX8-1", "Q8TE56-1", "Q8TE57-1", "Q9UNA0-1", "O95450-1", "Q8TE58-1", "Q9H324-1", "Q6Y288-1", "O15072-1", "O75173-1", "Q8TE59-1", "Q8TE60-1", "Q8WXS8-1", "Q9P2N4-3", "Q9UHI8-1", "Q9UKP4-1", "Q9UKP5-1", "Q9UP79-1" ], "evidence": [ { "id": "R-HSA-6785565", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6785565" } ] } ], "reaction_participants": [ { "participant_id": "R-ALL-173594", "participant_name": "UDP-D-glucose(2-) [endoplasmic reticulum lumen]", "crossref": [ { "id": "000008551096", "database": "ZINC", "url": "" }, { "id": "133-89-1", "database": "CAS", "url": "" }, { "id": "58367", "database": "ChEBI", "url": "" }, { "id": "000008215472", "database": "ZINC", "url": "" }, { "id": "C00029", "database": "COMPOUND", "url": "" }, { "id": "C00029", "database": "KEGG Gene", "url": "" }, { "id": "C00001514", "database": "KNApSAcK", "url": "" }, { "id": "UDP-GLUCOSE", "database": "AraCyc", "url": "" }, { "id": "44229134", "database": "PubChem Compound", "url": "" }, { "id": "C00029", "database": "COMPOUND", "url": "" }, { "id": "58367", "database": "ChEBI", "url": "" }, { "id": "C00001514", "database": "KNApSAcK", "url": "" }, { "id": "000008551096", "database": "ZINC", "url": "" }, { "id": "44229134", "database": "PubChem Compound", "url": "" }, { "id": "000008215472", "database": "ZINC", "url": "" }, { "id": "C00029", "database": "KEGG Gene", "url": "" }, { "id": "133-89-1", "database": "CAS", "url": "" }, { "id": "UDP-GLUCOSE", "database": "AraCyc", "url": "" }, { "id": "C00029", "database": "COMPOUND", "url": "" }, { "id": "58367", "database": "ChEBI", "url": "" }, { "id": "C00001514", "database": "KNApSAcK", "url": "" }, { "id": "000008551096", "database": "ZINC", "url": "" }, { "id": "44229134", "database": "PubChem Compound", "url": "" }, { "id": "000008215472", "database": "ZINC", "url": "" }, { "id": "C00029", "database": "KEGG Gene", "url": "" }, { "id": "133-89-1", "database": "CAS", "url": "" }, { "id": "UDP-GLUCOSE", "database": "AraCyc", "url": "" }, { "id": "C00029", "database": "KEGG Gene", "url": "" }, { "id": "C00001514", "database": "KNApSAcK", "url": "" }, { "id": "UDP-GLUCOSE", "database": "AraCyc", "url": "" }, { "id": "44229134", "database": "PubChem Compound", "url": "" }, { "id": "C00029", "database": "COMPOUND", "url": "" }, { "id": "000008551096", "database": "ZINC", "url": "" }, { "id": "133-89-1", "database": "CAS", "url": "" }, { "id": "000008215472", "database": "ZINC", "url": "" }, { "id": "58367", "database": "ChEBI", "url": "" }, { "id": "C00029", "database": "KEGG Gene", "url": "" }, { "id": "C00001514", "database": "KNApSAcK", "url": "" }, { "id": "UDP-GLUCOSE", "database": "AraCyc", "url": "" }, { "id": "44229134", "database": "PubChem Compound", "url": "" }, { "id": "C00029", "database": "COMPOUND", "url": "" }, { "id": "000008215472", "database": "ZINC", "url": "" }, { "id": "58367", "database": "ChEBI", "url": "" }, { "id": "133-89-1", "database": "CAS", "url": "" }, { "id": "000008551096", "database": "ZINC", "url": "" } ] } ], "reaction_enzymes": [ { "uniprot_ac": "O15072", "gene_name": "ADAMTS3", "activity": [ { "ec_number": "3.4.24.-", "activity": "", "evidence": [ { "id": "O15072", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O15072" } ] } ] }, { "uniprot_ac": "O75173", "gene_name": "ADAMTS4", "activity": [ { "ec_number": "3.4.24.82", "activity": "Glutamyl endopeptidase. Bonds cleaved include 370-Thr-Glu-Gly-Glu-|-Ala-Arg-Gly-Ser-377 in the interglobular domain of mammalian aggrecan.", "evidence": [ { "id": "O75173", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O75173" } ] }, { "ec_number": "3.4.24.82", "activity": "", "evidence": [ { "id": "O75173", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O75173" } ] } ] }, { "uniprot_ac": "O95450", "gene_name": "ADAMTS2", "activity": [ { "ec_number": "3.4.24.14", "activity": "Cleaves the N-propeptide of collagen chain alpha1(I) at Pro-|-Gln and of alpha1(II) and alpha2(I) at Ala-|-Gln.", "evidence": [ { "id": "O95450", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O95450" } ] }, { "ec_number": "3.4.24.14", "activity": "", "evidence": [ { "id": "O95450", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O95450" } ] } ] }, { "uniprot_ac": "P13497", "gene_name": "BMP1", "activity": [ { "ec_number": "3.4.24.19", "activity": "Cleavage of the C-terminal propeptide at Ala-|-Asp in type I and II procollagens and at Arg-|-Asp in type III.", "evidence": [ { "id": "P13497", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P13497" } ] }, { "ec_number": "3.4.24.19", "activity": "", "evidence": [ { "id": "P13497", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P13497" } ] }, { "ec_number": "3.4.24.-", "activity": "", "evidence": [ { "id": "P13497", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P13497" } ] } ] }, { "uniprot_ac": "P58397", "gene_name": "ADAMTS12", "activity": [ { "ec_number": "3.4.24.-", "activity": "", "evidence": [ { "id": "P58397", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P58397" } ] } ] }, { "uniprot_ac": "P59510", "gene_name": "ADAMTS20", "activity": [ { "ec_number": "3.4.24.-", "activity": "", "evidence": [ { "id": "P59510", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P59510" } ] } ] }, { "uniprot_ac": "Q6Y288", "gene_name": "B3GLCT", "activity": [ { "ec_number": "2.4.1.-", "activity": "", "evidence": [ { "id": "Q6Y288", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q6Y288" } ] } ] }, { "uniprot_ac": "Q76LX8", "gene_name": "ADAMTS13", "activity": [ { "ec_number": "3.4.24.87", "activity": "The enzyme cleaves the von Willebrand factor at bond 842-Tyr-|-Met-843 within the A2 domain.", "evidence": [ { "id": "Q76LX8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q76LX8" } ] }, { "ec_number": "3.4.24.87", "activity": "", "evidence": [ { "id": "Q76LX8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q76LX8" } ] } ] }, { "uniprot_ac": "Q8TE56", "gene_name": "ADAMTS17", "activity": [ { "ec_number": "3.4.24.-", "activity": "", "evidence": [ { "id": "Q8TE56", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8TE56" } ] } ] }, { "uniprot_ac": "Q8TE57", "gene_name": "ADAMTS16", "activity": [ { "ec_number": "3.4.24.-", "activity": "", "evidence": [ { "id": "Q8TE57", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8TE57" } ] } ] }, { "uniprot_ac": "Q8TE58", "gene_name": "ADAMTS15", "activity": [ { "ec_number": "3.4.24.-", "activity": "", "evidence": [ { "id": "Q8TE58", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8TE58" } ] } ] }, { "uniprot_ac": "Q8TE59", "gene_name": "ADAMTS19", "activity": [ { "ec_number": "3.4.24.-", "activity": "", "evidence": [ { "id": "Q8TE59", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8TE59" } ] } ] }, { "uniprot_ac": "Q8TE60", "gene_name": "ADAMTS18", "activity": [ { "ec_number": "3.4.24.-", "activity": "", "evidence": [ { "id": "Q8TE60", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8TE60" } ] } ] }, { "uniprot_ac": "Q8WXS8", "gene_name": "ADAMTS14", "activity": [ { "ec_number": "3.4.24.-", "activity": "", "evidence": [ { "id": "Q8WXS8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8WXS8" } ] } ] }, { "uniprot_ac": "Q9H324", "gene_name": "ADAMTS10", "activity": [ { "ec_number": "3.4.24.-", "activity": "", "evidence": [ { "id": "Q9H324", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9H324" } ] } ] }, { "uniprot_ac": "Q9P2N4", "gene_name": "ADAMTS9", "activity": [ { "ec_number": "3.4.24.-", "activity": "", "evidence": [ { "id": "Q9P2N4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9P2N4" } ] } ] }, { "uniprot_ac": "Q9UHI8", "gene_name": "ADAMTS1", "activity": [ { "ec_number": "3.4.24.-", "activity": "", "evidence": [ { "id": "Q9UHI8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9UHI8" } ] } ] }, { "uniprot_ac": "Q9UKP4", "gene_name": "ADAMTS7", "activity": [ { "ec_number": "3.4.24.-", "activity": "", "evidence": [ { "id": "Q9UKP4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9UKP4" } ] } ] }, { "uniprot_ac": "Q9UKP5", "gene_name": "ADAMTS6", "activity": [ { "ec_number": "3.4.24.-", "activity": "", "evidence": [ { "id": "Q9UKP5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9UKP5" } ] } ] }, { "uniprot_ac": "Q9UNA0", "gene_name": "ADAMTS5", "activity": [ { "ec_number": "3.4.24.-", "activity": "", "evidence": [ { "id": "Q9UNA0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9UNA0" } ] } ] }, { "uniprot_ac": "Q9UP79", "gene_name": "ADAMTS8", "activity": [ { "ec_number": "3.4.24.-", "activity": "", "evidence": [ { "id": "Q9UP79", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9UP79" } ] } ] }, { "uniprot_ac": "Q9Y2G5", "gene_name": "POFUT2", "activity": [ { "ec_number": "2.4.1.221", "activity": "GDP-beta-L-fucose + L-threonyl-[protein] = 3-O-(alpha-L-fucosyl)-L-threonyl-[protein] + GDP + H(+).", "evidence": [ { "id": "Q9Y2G5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9Y2G5" } ] }, { "ec_number": "2.4.1.221", "activity": "", "evidence": [ { "id": "Q9Y2G5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9Y2G5" } ] } ] } ], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.oma", "label": "OMA Homologs" }, { "name": "homologset.mgi", "label": "MGI Homologs" } ], "sequence_features": { "n_linked_sites": [ 112, 251, 949, 993, 1031, 1098, 1145, 1150 ], "o_linked_sites": [ 57, 64, 1127 ], "snv_sites": [ 112, 238, 251, 253, 343, 535, 597, 599, 718, 862, 927, 948, 949, 962, 995, 1031, 1033, 1066, 1098, 1099, 1100, 1127, 1145, 1147, 1150, 1152, 1180 ], "glycation_sites": [], "phosphorylation_sites": [], "sequon_annotation_sites": [ { "start_pos": 1031, "end_pos": 1033 }, { "start_pos": 1098, "end_pos": 1100 }, { "start_pos": 112, "end_pos": 114 }, { "start_pos": 1145, "end_pos": 1147 }, { "start_pos": 1150, "end_pos": 1152 }, { "start_pos": 251, "end_pos": 253 }, { "start_pos": 949, "end_pos": 951 }, { "start_pos": 993, "end_pos": 995 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 11 }, { "field": "total_sites", "count": 11 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 8 }, { "field": "o_linked_glycans", "count": 2 }, { "field": "o_linked_glycan_sites", "count": 3 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 3 }, { "field": "total_sites", "count": 3 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 2 }, { "field": "o_linked_glycan_sites", "count": 3 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 8 }, { "field": "total_sites", "count": 8 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 8 }, { "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": 31 }, { "field": "total_sites", "count": 27 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 5 }, { "field": "total_sites", "count": 5 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 26 }, { "field": "total_sites", "count": 23 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 45 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }