{ "uniprot_canonical_ac": "O95460-1", "uniprot_ac": "O95460", "uniprot_id": "MATN4_HUMAN", "mass": { "chemical_mass": 68487.0, "monoisotopic_mass": 68487.0 }, "refseq": { "ac": "NP_085095", "name": "matrilin-4 isoform 3 precursor", "summary": "This gene encodes a member of von Willebrand factor A domain-containing protein family. The proteins of this family are thought to be involved in the formation of filamentous networks in the extracellular matrices of various tissues. This family member is thought to be play a role in reorganizing and regenerating the corneal matrix in granular and lattice type I dystrophies. It may also be involved in wound healing in the dentin-pulp complex. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_085095" }, "gene_names": [ { "name": "MATN4", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O95460", "id": "O95460" }, { "name": "MATN4", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_085095", "id": "NP_085095" } ], "protein_names": [ { "name": "Matrilin-4", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O95460" }, { "name": "matrilin-4 isoform 3 precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_085095", "id": "NP_085095" } ], "function": [ { "annotation": "Major component of the extracellular matrix of cartilage.", "evidence": [ { "database": "UniProtKB", "id": "O95460", "url": "https://www.uniprot.org/uniprot/O95460#function" } ] }, { "annotation": "Matrilin 4 (MATN4) was the only ECM biogenesis and organization related gene detected in odontoblasts but not in pulp by microarray and RT-PCR. MATN4 protein expression only in odontoblasts was confirmed by Western blot.", "evidence": [ { "database": "RefSeq", "id": "NP_085095", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_085095" }, { "database": "PubMed", "id": "18005044", "url": "https://glygen.org/publication/PubMed/18005044" } ] }, { "annotation": "This gene encodes a member of von Willebrand factor A domain-containing protein family. The proteins of this family are thought to be involved in the formation of filamentous networks in the extracellular matrices of various tissues. This family member is thought to be play a role in reorganizing and regenerating the corneal matrix in granular and lattice type I dystrophies. It may also be involved in wound healing in the dentin-pulp complex. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013].", "evidence": [ { "database": "RefSeq", "id": "NP_085095", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_085095" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "O95460", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O95460" }, { "id": "rs1157381506", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1157381506" }, { "id": "rs1157381506", "database": "NCI-TCGA", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1157381506" }, { "id": "rs1157381506", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1157381506" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 124, "end_pos": 124, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "T", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (NVA->NVT).", "chr_id": "20", "chr_pos": "45304501", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "A124", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs780673215", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780673215" }, { "id": "rs780673215", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780673215" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 251, "end_pos": 251, "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NKS->DKS).", "chr_id": "20", "chr_pos": "45303404", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N251", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1381219329", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1381219329" }, { "id": "rs1381219329", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1381219329" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 251, "end_pos": 251, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NKS->SKS).", "chr_id": "20", "chr_pos": "45303403", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N251", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1182890650", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1182890650" }, { "id": "rs1182890650", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1182890650" }, { "id": "rs1600699686", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1600699686" }, { "id": "rs1600699686", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1600699686" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 253, "end_pos": 253, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NKS->NKN).", "chr_id": "20", "chr_pos": "45300895", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S253", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs372491490", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs372491490" }, { "id": "rs372491490", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs372491490" }, { "id": "rs372491490", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs372491490#frequency_tab" }, { "id": "rs372491490", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs372491490" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 307, "end_pos": 307, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NHS->NHN).", "chr_id": "20", "chr_pos": "45301194", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S307", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs755758701", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755758701" }, { "id": "rs755758701", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755758701" }, { "id": "rs755758701", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs755758701#frequency_tab" }, { "id": "rs755758701", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs755758701" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 412, "end_pos": 412, "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NQI->NQT).", "chr_id": "20", "chr_pos": "45298484", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I412", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs773654403", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773654403" }, { "id": "rs773654403", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773654403" }, { "id": "rs773654403", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs773654403" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 417, "end_pos": 417, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DVS->NVS).", "chr_id": "20", "chr_pos": "45298470", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D417", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O95460", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O95460" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 431, "end_pos": 431, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "L", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "20", "chr_pos": "45298427", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S431", "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the 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"https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of 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"https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": 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"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": "O95460", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95460" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", 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"https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, 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"description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": 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"https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": 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}, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has 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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": "down", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O95460", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95460" } ], "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/O95460" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "No", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "O95460", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95460" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": 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"name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O95460", "url": "https://www.uniprot.org/uniprot/O95460" } ], "common_name": "Human" } ], "gene": [ { "name": "MATN4", "url": "https://www.uniprot.org/uniprot/O95460", "locus": { "chromosome": "20", "start_pos": 45293445, "end_pos": 45308529, "strand": "+", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000124159", "url": "https://www.ensembl.org/id/ENSG00000124159" } ] } } ], "crossref": [ { "id": "ENSG00000124159", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000124159", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "O95460", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O95460", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "cd00054", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd00054", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "MATN4", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=MATN4", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "8785", "url": "https://www.ncbi.nlm.nih.gov/gene/8785", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "1493", "url": "https://glyconnect.expasy.org/browser/proteins/1493", "database": "GlyConnect", "categories": [ "Glycoproteomics", "Glycan" ] }, { "id": "6910", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=6910", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "O95460", "url": "https://www.ebi.ac.uk/intact/interactors/id:O95460*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR000742", "url": "https://www.ebi.ac.uk/interpro/entry/IPR000742", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR001881", "url": "https://www.ebi.ac.uk/interpro/entry/IPR001881", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR002035", "url": "https://www.ebi.ac.uk/interpro/entry/IPR002035", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR009030", "url": "https://www.ebi.ac.uk/interpro/entry/IPR009030", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR019466", "url": "https://www.ebi.ac.uk/interpro/entry/IPR019466", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR026823", "url": "https://www.ebi.ac.uk/interpro/entry/IPR026823", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR036337", "url": "https://www.ebi.ac.uk/interpro/entry/IPR036337", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR036465", "url": "https://www.ebi.ac.uk/interpro/entry/IPR036465", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:8785", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:8785", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "603897", "url": "http://www.omim.org/entry/603897", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_O95460", "url": "https://www.nextprot.org/entry/NX_O95460", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "DKRSCSM", "url": "https://omabrowser.org/oma/group/DKRSCSM/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "1453590at2759", "url": "http://www.orthodb.org/?query=1453590at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR24020", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR24020", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR24020:SF14", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR24020:SF14", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF00092", "url": "http://pfam.xfam.org/family/PF00092", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF10393", "url": "http://pfam.xfam.org/family/PF10393", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF12662", "url": "http://pfam.xfam.org/family/PF12662", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF14670", "url": "http://pfam.xfam.org/family/PF14670", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "O95460", "url": "https://pharos.nih.gov/targets/O95460", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_O95460", "url": "http://purl.obolibrary.org/obo/PR_O95460", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-3000178", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000178", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_085095", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_085095", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "A0A8I5KYX9", "url": "https://www.uniprot.org/uniprot/A0A8I5KYX9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8I5KYX9-1", "url": "https://www.uniprot.org/uniprot/A0A8I5KYX9-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A6NNA4", "url": "https://www.uniprot.org/uniprot/A6NNA4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A6NNA4-1", "url": "https://www.uniprot.org/uniprot/A6NNA4-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O95460", "url": "https://www.uniprot.org/uniprot/O95460", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O95460-1", "url": "https://www.uniprot.org/uniprot/O95460-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O95460-2", "url": "https://www.uniprot.org/uniprot/O95460-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O95460-3", "url": "https://www.uniprot.org/uniprot/O95460-3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O95460-4", "url": "https://www.uniprot.org/uniprot/O95460-4", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MRGLLCWPVLLLLLQPWETQLQLTGPRCHTGPLDLVFVIDSSRSVRPFEFETMRQFLMGLLRGLNVGPNATRVGVIQYSSQVQSVFPLRAFSRREDMERAIRDLVPLAQGTMTGLAIQYAMNVAFSVAEGARPPEERVPRVAVIVTDGRPQDRVAEVAAQARARGIEIYAVGVQRADVGSLRAMASPPLDEHVFLVESFDLIQEFGLQFQSRLCGKDQCAEGGHGCQHQCVNAWAMFHCTCNPGYKLAADNKSCLAIDLCAEGTHGCEHHCVNSPGSYFCHCQVGFVLQQDQRSCRAIDYCSFGNHSCQHECVSTPGGPRCHCREGHDLQPDGRSCQVRDLCNGVDHGCEFQCVSEGLSYRCLCPEGRQLQADGKSCNRCREGHVDLVLLVDGSKSVRPQNFELVKRFVNQIVDFLDVSPEGTRVGLVQFSSRVRTEFPLGRYGTAAEVKQAVLAVEYMERGTMTGLALRHMVEHSFSEAQGARPRALNVPRVGLVFTDGRSQDDISVWAARAKEEGIVMYAVGVGKAVEAELREIASEPAELHVSYAPDFGTMTHLLENLRGSICPEEGISAGTELRSPCECESLVEFQGRTLGALESLTLNLAQLTARLEDLENQLANQK", "length": 622, "header": "sp|O95460-1|MATN4_HUMAN Isoform 1 of Matrilin-4 OS=Homo sapiens OX=9606 GN=MATN4 PE=1 SV=3 CANONICAL=O95460-1" }, "isoforms": [ { "isoform_ac": "A0A8I5KYX9-1", "url": "", "sequence": { "sequence": "MRGLLCWPVLLLLLQPWETQLQLTAPAACALSSSRPCGSSSWASSEA", "length": 47, "header": "tr|A0A8I5KYX9-1|A0A8I5KYX9_HUMAN Computationally mapped isoform of Matrilin 4 OS=Homo sapiens OX=9606 GN=MATN4 PE=4 SV=1 CANONICAL=O95460-1" }, "locus": { "chromosome": "20", "start_pos": 45305582, "end_pos": 45304681, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000686119.1", "url": "https://www.ensembl.org/id/ENST00000686119.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000510496.1", "url": "https://www.ensembl.org/id/ENSP00000510496.1" } ] } }, { "isoform_ac": "A6NNA4-1", "url": "", "sequence": { "sequence": "MRGLLCWPVLLLLLQPWETQLQLTGPRCHTGPLDLVFVIDSSRSVRPFEFETMRQFLMGLLRGLNVGPNATRVGVIQYSSQVQSVFPLRAFSRREDMERAIRDLVPLAQGTMTGLAIQYAMNVAFSVAEGARPPEERVPRVAVIVTDGRPQDRVAEVAAQARARGIEIYAVGVQRADVGSLRAMASPPLDEHVFLVESFDLIQEFGLQFQSRLCVRDLCNGVDHGCEFQCVSEGLSYRCLCPEGRQLQADGKSCNRCREGHVDLVLLVDGSKSVRPQNFELVKRFVNQIVDFLDVSPEGTRVGLVQFSSRVRTEFPLGRYGTAAEVKQAVLAVEYMERGTMTGLALRHMVEHSFSEAQGARPRALNVPRVGLVFTDGRSQDDISVWAARAKEEGIVMYAVGVGKAVEAELREIASEPAELHVSYAPDFGTMTHLLENLRGSICPEEGISAGTELRSPCECESLVEFQGRTLGALESLTLNLAQLTARLEDLENQLANQK", "length": 499, "header": "tr|A6NNA4-1|A6NNA4_HUMAN Computationally mapped isoform of Matrilin 4 OS=Homo sapiens OX=9606 GN=MATN4 PE=1 SV=2 CANONICAL=O95460-1" }, "locus": { "chromosome": "20", "start_pos": 45305582, "end_pos": 45293770, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000353917.10", "url": "https://www.ensembl.org/id/ENST00000353917.10" }, { "database": "Ensembl Peptide", "id": "ENSP00000243983.5", "url": "https://www.ensembl.org/id/ENSP00000243983.5" } ] } }, { "isoform_ac": "O95460-1", "url": "", "sequence": { "sequence": "MRGLLCWPVLLLLLQPWETQLQLTGPRCHTGPLDLVFVIDSSRSVRPFEFETMRQFLMGLLRGLNVGPNATRVGVIQYSSQVQSVFPLRAFSRREDMERAIRDLVPLAQGTMTGLAIQYAMNVAFSVAEGARPPEERVPRVAVIVTDGRPQDRVAEVAAQARARGIEIYAVGVQRADVGSLRAMASPPLDEHVFLVESFDLIQEFGLQFQSRLCGKDQCAEGGHGCQHQCVNAWAMFHCTCNPGYKLAADNKSCLAIDLCAEGTHGCEHHCVNSPGSYFCHCQVGFVLQQDQRSCRAIDYCSFGNHSCQHECVSTPGGPRCHCREGHDLQPDGRSCQVRDLCNGVDHGCEFQCVSEGLSYRCLCPEGRQLQADGKSCNRCREGHVDLVLLVDGSKSVRPQNFELVKRFVNQIVDFLDVSPEGTRVGLVQFSSRVRTEFPLGRYGTAAEVKQAVLAVEYMERGTMTGLALRHMVEHSFSEAQGARPRALNVPRVGLVFTDGRSQDDISVWAARAKEEGIVMYAVGVGKAVEAELREIASEPAELHVSYAPDFGTMTHLLENLRGSICPEEGISAGTELRSPCECESLVEFQGRTLGALESLTLNLAQLTARLEDLENQLANQK", "length": 622, "header": "sp|O95460-1|MATN4_HUMAN Isoform 1 of Matrilin-4 OS=Homo sapiens OX=9606 GN=MATN4 PE=1 SV=3 CANONICAL=O95460-1" }, "locus": { "chromosome": "20", "start_pos": 45305582, "end_pos": 45293770, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000372754.5", "url": "https://www.ensembl.org/id/ENST00000372754.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000361840.1", "url": "https://www.ensembl.org/id/ENSP00000361840.1" } ] } }, { "isoform_ac": "O95460-2", "url": "", "sequence": { "sequence": "MRGLLCWPVLLLLLQPWETQLQLTGPRCHTGPLDLVFVIDSSRSVRPFEFETMRQFLMGLLRGLNVGPNATRVGVIQYSSQVQSVFPLRAFSRREDMERAIRDLVPLAQGTMTGLAIQYAMNVAFSVAEGARPPEERVPRVAVIVTDGRPQDRVAEVAAQARARGIEIYAVGVQRADVGSLRAMASPPLDEHVFLVESFDLIQEFGLQFQSRLCAIDLCAEGTHGCEHHCVNSPGSYFCHCQVGFVLQQDQRSCRAIDYCSFGNHSCQHECVSTPGGPRCHCREGHDLQPDGRSCQVRDLCNGVDHGCEFQCVSEGLSYRCLCPEGRQLQADGKSCNRCREGHVDLVLLVDGSKSVRPQNFELVKRFVNQIVDFLDVSPEGTRVGLVQFSSRVRTEFPLGRYGTAAEVKQAVLAVEYMERGTMTGLALRHMVEHSFSEAQGARPRALNVPRVGLVFTDGRSQDDISVWAARAKEEGIVMYAVGVGKAVEAELREIASEPAELHVSYAPDFGTMTHLLENLRGSICPEEGISAGTELRSPCECESLVEFQGRTLGALESLTLNLAQLTARLEDLENQLANQK", "length": 581, "header": "sp|O95460-2|MATN4_HUMAN Isoform 2 of Matrilin-4 OS=Homo sapiens OX=9606 GN=MATN4 PE=1 SV=3 CANONICAL=O95460-1" }, "locus": { "chromosome": "20", "start_pos": 45305582, "end_pos": 45293770, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000537548.3", "url": "https://www.ensembl.org/id/ENST00000537548.3" }, { "database": "Ensembl Peptide", "id": "ENSP00000440328.1", "url": "https://www.ensembl.org/id/ENSP00000440328.1" } ] } }, { "isoform_ac": "O95460-3", "url": "", "sequence": { "sequence": "MRGLLCWPVLLLLLQPWETQLQLTGKDQCAEGGHGCQHQCVNAWAMFHCTCNPGYKLAADNKSCLAIDLCAEGTHGCEHHCVNSPGSYFCHCQVGFVLQQDQRSCRAIDYCSFGNHSCQHECVSTPGGPRCHCREGHDLQPDGRSCQVRDLCNGVDHGCEFQCVSEGLSYRCLCPEGRQLQADGKSCNRCREGHVDLVLLVDGSKSVRPQNFELVKRFVNQIVDFLDVSPEGTRVGLVQFSSRVRTEFPLGRYGTAAEVKQAVLAVEYMERGTMTGLALRHMVEHSFSEAQGARPRALNVPRVGLVFTDGRSQDDISVWAARAKEEGIVMYAVGVGKAVEAELREIASEPAELHVSYAPDFGTMTHLLENLRGSICPEEGISAGTELRSPCECESLVEFQGRTLGALESLTLNLAQLTARLEDLENQLANQK", "length": 432, "header": "sp|O95460-3|MATN4_HUMAN Isoform 3 of Matrilin-4 OS=Homo sapiens OX=9606 GN=MATN4 PE=1 SV=3 CANONICAL=O95460-1" }, "locus": {} }, { "isoform_ac": "O95460-4", "url": "", "sequence": { "sequence": "MRGLLCWPVLLLLLQPWETQLQLTGPRCHTGPLDLVFVIDSSRSVRPFEFETMRQFLMGLLRGLNVGPNATRVGVIQYSSQVQSVFPLRAFSRREDMERAIRDLVPLAQGTMTGLAIQYAMNVAFSVAEGARPPEERVPRVAVIVTDGRPQDRVAEVAAQARARGIEIYAVGVQRADVGSLRAMASPPLDEHVFLVESFDLIQEFGLQFQSRLCAIDYCSFGNHSCQHECVSTPGGPRCHCREGHDLQPDGRSCQVRDLCNGVDHGCEFQCVSEGLSYRCLCPEGRQLQADGKSCNRCREGHVDLVLLVDGSKSVRPQNFELVKRFVNQIVDFLDVSPEGTRVGLVQFSSRVRTEFPLGRYGTAAEVKQAVLAVEYMERGTMTGLALRHMVEHSFSEAQGARPRALNVPRVGLVFTDGRSQDDISVWAARAKEEGIVMYAVGVGKAVEAELREIASEPAELHVSYAPDFGTMTHLLENLRGSICPEEGISAGTELRSPCECESLVEFQGRTLGALESLTLNLAQLTARLEDLENQLANQK", "length": 540, "header": "sp|O95460-4|MATN4_HUMAN Isoform 4 of Matrilin-4 OS=Homo sapiens OX=9606 GN=MATN4 PE=1 SV=3 CANONICAL=O95460-1" }, "locus": { "chromosome": "20", "start_pos": 45305582, "end_pos": 45293770, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000360607.10", "url": "https://www.ensembl.org/id/ENST00000360607.10" }, { "database": "Ensembl Peptide", "id": "ENSP00000353819.5", "url": "https://www.ensembl.org/id/ENSP00000353819.5" } ] } } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 251, "start_aa": "Asn", "end_pos": 251, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn251", "evidence": [ { "id": "O95460", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O95460#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 305, "start_aa": "Asn", "end_pos": 305, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn305", "evidence": [ { "id": "O95460", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O95460#ptm_processing" } ] }, { "glytoucan_ac": "G25418HZ", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 69, "start_aa": "Asn", "end_pos": 69, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn69", "evidence": [ { "id": "1493", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1493" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G72667IM", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 69, "start_aa": "Asn", "end_pos": 69, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn69", "evidence": [ { "id": "1493", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1493" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G81263BG", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 69, "start_aa": "Asn", "end_pos": 69, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn69", "evidence": [ { "id": "1493", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1493" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G83229XP", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 69, "start_aa": "Asn", "end_pos": 69, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn69", "evidence": [ { "id": "1493", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1493" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G84452RH", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 69, "start_aa": "Asn", "end_pos": 69, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn69", "evidence": [ { "id": "1493", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1493" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G95133RI", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 69, "start_aa": "Asn", "end_pos": 69, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn69", "evidence": [ { "id": "1493", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1493" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 69, "start_aa": "Asn", "end_pos": 69, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn69", "evidence": [ { "id": "O95460", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O95460#ptm_processing" } ] } ], "phosphorylation": [], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported", "glycoprotein_predicted", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Binding of the G domains of laminin alpha1 and alpha2 chains and perlecan to heparin, sulfatides, alpha-dystroglycan and several extracellular matrix proteins.", "journal": "The EMBO journal", "date": "1999", "authors": "Talts JF, Andac Z, Gohring W, Brancaccio A, Timpl R", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000178", "url": 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"Cotman SL, Halfter W, Cole GJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000178", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000178" } ], "reference": [ { "type": "PubMed", "id": "10673326", "url": "https://glygen.org/publication/PubMed/10673326" } ] }, { "title": "Mutations in cartilage oligomeric matrix protein causing pseudoachondroplasia and multiple epiphyseal dysplasia affect binding of calcium and collagen I, II, and IX.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Thur J, Rosenberg K, Nitsche DP, Pihlajamaa T, Ala-Kokko L, Heinegard D, Paulsson M, Maurer P", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000178", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000178" } ], "reference": [ { "type": "PubMed", "id": "11084047", "url": "https://glygen.org/publication/PubMed/11084047" } ] }, { "title": "Biglycan and decorin bind close to the n-terminal region of the collagen VI triple helix.", "journal": 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"https://glygen.org/publication/PubMed/9685393" } ] }, { "title": "Genomic organisation, alternative splicing and primary structure of human matrilin-4.", "journal": "FEBS Lett.", "date": "1998", "authors": "Wagener R, Kobbe B, Paulsson M", "evidence": [ { "database": "UniProtKB", "id": "O95460", "url": "https://www.uniprot.org/uniprot/O95460" } ], "reference": [ { "type": "PubMed", "id": "9827539", "url": "https://glygen.org/publication/PubMed/9827539" } ] }, { "title": "Tenascin-C inhibits beta1 integrin-dependent cell adhesion and neurite outgrowth on fibronectin by a disialoganglioside-mediated signaling mechanism.", "journal": "Glycobiology", "date": "1999", "authors": "Probstmeier R, Pesheva P", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000178", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000178" } ], "reference": [ { "type": "PubMed", "id": "9949188", "url": "https://glygen.org/publication/PubMed/9949188" } ] } ], "pathway": [ { "id": "hsa:8785", "name": 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"MKGPFCWPLPLLLLFLQSWETQLQPAGPRCYTGPLDLVFMIDSSRSVRPFEFETMRQFLVGLLHSLDVGLNATRVGVIQYSSQVQSVFPLGAFSNREDMERAIRAVVPLAQGTMTGLAIQYAMNVAFSEAEGARPSEERVPRVLVIVTDGRPQDRVAEVAAQARARGIEIYAVGVQRADVGSLRAMASPPLDQHVFLVESFDLIQEFGLQFQGRLWKDLCAELEHGCQHLCVNAPGTFYCACNSGYKLAPDNRNCLAIDLCAEGTHGCEHLCVSSVDSYFCRCRAGFALQQDQRSCRAIDYCSFGNHSCQHECVSTLVGPQCRCREGHDLLPDGRSCQVRDFCNGVDHGCEFQCVSEGLSFHCLCPEGRRLQADGKSCDRCREGHVDLVLLVDGSKSVRPQNFELVKRFVNQIVDFLDVSPEGTRVGLVQFSSRVRTEFPLGRYGTAAEVKQAVLAVEYMERGTMTGLALRHMVEHSFSEVQGARPRDLNVPRVGLVFTDGRSQDDISVWAARAKEEGIVMYAVGVGKAVEEELREIASEPSELHVSYSPDFNTMTHLLENLKGSICPEEGISAGTELRSPCECESLVEFQGRTLGALESLTQNQARLTERLEELENQLASRK", "length": 623 }, "evidence": [ { "id": "O95460", "url": "https://omabrowser.org/oma/group/O95460/", "database": "OMA" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "F1SDQ7-1", "protein_name": "Matrilin 4", "gene_name": "MATN4", "tax_id": 9823, "organism": "Sus scrofa", "sequence": { "sequence": "MRGLLGLLLPLLLLLLQPWETQLQFAGPRCRTGPLDLVFVIDSSRSVRPFEFETMRQFLVGLLRSLDVGPNATRVGVIQYSSQVQSVFPLGAFSRREDMEGAIRALVPLAQGTMTGLAIQYAMNVAFSVAEGARPPEARVPRVAVIVTDGRPQDRVAEVAAQARSRGIEIYAVGVQRADVGSLRAMASPPLDEHVFLVESFDLIQEFGQQFQGRLCRKDLCAEGGHGCQHQCVSAPGTFHCACNPGYRLAADNKSCLAINLCAEETHGCEHHCVSSPGSYFCHCRAGFVLQQDQRSCRAIDYCGFGNHSCQHECVNTFGGPRCRCREGHDLLPDGRSCQARDLCNGVDHGCEFQCVSEGLSYRCLCPEGQQLLADGKSCNRCREGHVDLVLLVDGSKSVRPQNFELVKRFVNQIVDFLDVSPEGTRVGLVQFSSRVRTEFPLGRYGTAAEVKQAVLAVEYMERGTMTGLALRHMVEHSFSEAQGARPRALNVPRVGLVFTDGRSQDDVSVWAARAKEEGIVMYAVGVGKAVEEELREIASEPAELHVSYSPDFSTMTHLLENLKGSICPEEGIGAGTELRSPCECDSLVEFQGRTLGALESLSQNLAQLTARLEELENQLAAQK", "length": 624 }, "evidence": [ { "id": "O95460", "url": "https://omabrowser.org/oma/group/O95460/", "database": "OMA" } ], "common_name": "Pig" }, { "uniprot_canonical_ac": "O89029-1", "protein_name": "Matrilin-4", "gene_name": "Matn4", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MRGPCCWPLSLLLLFLQSWETQLQSAGPRCYNGPLDLVFMIDSSRSVRPFEFETMRQFLVGLLRSLDVGLNATRVGVIQYSSQVQSVFPLGAFSRREDMERAIRAVVPLAQGTMTGLAIQYAMNVAFSEAEGARPSEERVPRVLVIVTDGRPQDRVAEVAAQARARGIEIYAVGVQRADVGSLRTMASPPLDQHVFLVESFDLIQEFGLQFQGRLCGKDLCAELVHGCQHLCVNAPGTFYCACNSGYKLAPDNKNCLALDLCAEGTHGCEHLCVNSVDSYFCRCRAGFALQQDQRSCRAIDYCSFGNHSCQHECVSTLAGPQCRCREGHDLLPDGRSCRVRDFCNGVDHGCEFQCVSEGLSFHCLCPEGRRLQADGKSCDRCREGHVDLVLLVDGSKSVRPQNFELVKRFVNQIVDFLDVSPEGTRVGLVQFSSRVRTEFPLGRYGTAAEVKQAVLAVEYMERGTMTGLALRHMVEHSFSEAQGARPRDLNVPRVGLVFTDGRSQDDISVWAARAKEEGIVMYAVGVGKAVEEELREIASEPSELHVSYSPDFSTMTHLLENLKGSICPEEGIGAGTELRSPCECESLVEFQGRTLGALESLTQNLARLTERLEELENQLASRK", "length": 624 }, "evidence": [ { "id": "45919416", "url": "http://www.informatics.jax.org/homology/45919416", "database": "MGI" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "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": "O95460", "url": "https://www.uniprot.org/uniprot/O95460" } ], "pmid": "" }, { "name": "collagen-containing extracellular matrix", "id": "GO:0062023", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0062023", "evidence": [ { "database": "UniProtKB", "id": "O95460", "url": "https://www.uniprot.org/uniprot/O95460" } ], "pmid": "" }, { "name": "matrilin complex", "id": "GO:0120216", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120216", "evidence": [ { "database": "UniProtKB", "id": "O95460", "url": "https://www.uniprot.org/uniprot/O95460" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 1, "go_terms": [ { "name": "extracellular matrix organization", "id": "GO:0030198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030198", "evidence": [ { "database": "UniProtKB", "id": "O95460", "url": "https://www.uniprot.org/uniprot/O95460" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 1, "go_terms": [ { "name": "calcium ion binding", "id": "GO:0005509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005509", "evidence": [ { "database": "UniProtKB", "id": "O95460", "url": "https://www.uniprot.org/uniprot/O95460" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 251, "end_pos": 253, "annotation": "n_glycosylation_sequon" }, { "start_pos": 305, "end_pos": 307, "annotation": "n_glycosylation_sequon" }, { "start_pos": 69, "end_pos": 71, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "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": [ 69, 251, 305 ], "o_linked_sites": [], "snv_sites": [ 71, 124, 251, 253, 307, 412, 417, 431, 476, 544, 599 ], "glycation_sites": [], "phosphorylation_sites": [], "sequon_annotation_sites": [ { "start_pos": 251, "end_pos": 253 }, { "start_pos": 305, "end_pos": 307 }, { "start_pos": 69, "end_pos": 71 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 9 }, { "field": "total_sites", "count": 3 }, { "field": "n_linked_glycans", "count": 6 }, { "field": "n_linked_glycan_sites", "count": 4 }, { "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": 6 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 6 }, { "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_predicted", "table_stats": [ { "field": "total", "count": 2 }, { "field": "total_sites", "count": 2 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 2 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 12 }, { "field": "total_sites", "count": 11 } ], "sort_fields": [ "start_pos", "end_pos", "subjects_tested", "subjects_positive", "frequency", "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": 2 }, { "field": "total_sites", "count": 2 } ], "sort_fields": [ "start_pos", "end_pos", "subjects_tested", "subjects_positive", "frequency", "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": 10 }, { "field": "total_sites", "count": 9 } ], "sort_fields": [ "start_pos", "end_pos", "subjects_tested", "subjects_positive", "frequency", "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": 44 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }