{ "uniprot_canonical_ac": "A0PJX2-1", "sequence": { "header": "sp|A0PJX2-1|TLDC2_HUMAN Isoform 1 of TLD domain-containing protein 2 OS=Homo sapiens OX=9606 GN=TLDC2 PE=2 SV=1 CANONICAL=A0PJX2-1", "length": 215, "sequence": "MRGLRWRYTRLPSQVEDTLSGEEGNEEEEEEEAAPDPAAAPEDPTVPQLTEASQVLSASEIRQLSFHFPPRVTGHPWSLVFCTSRDGFSLQSLYRRMEGCSGPVLLVLRDQDGQIFGAFSSSAIRLSKGFYGTGETFLFSFSPQLKVFKWTGSNSFFVKGDLDSLMMGSGSGRFGLWLDGDLFRGGSSPCPTFNNEVLARQEQFCIQELEAWLLS" }, "uniprot_id": "TLDC2_HUMAN", "enzyme_annotation": [], "glycation": [], "keywords": [], "species": [ { "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0PJX2", "id": "A0PJX2", "database": "UniProtKB" } ], "name": "Homo sapiens", "taxid": 9606 } ], "publication": [ { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/12477932", "type": "PUBMED", "id": "12477932" } ], "title": "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001291712.1", "id": "NP_001291712.1", "database": "RefSeq" } ], "authors": "Strausberg RL, Feingold EA, Grouse LH, Derge JG, Klausner RD, Collins FS, Wagner L, Shenmen CM, Schuler GD, Altschul SF, Zeeberg B, Buetow KH, Schaefer CF, Bhat NK, Hopkins RF, Jordan H, Moore T, Max SI, Wang J, Hsieh F, Diatchenko L, Marusina K, Farmer AA, Rubin GM, Hong L, Stapleton M, Soares MB, Bonaldo MF, Casavant TL, Scheetz TE, Brownstein MJ, Usdin TB, Toshiyuki S, Carninci P, Prange C, Raha SS, Loquellano NA, Peters GJ, Abramson RD, Mullahy SJ, Bosak SA, McEwan PJ, McKernan KJ, Malek JA, Gunaratne PH, Richards S, Worley KC, Hale S, Garcia AM, Gay LJ, Hulyk SW, Villalon DK, Muzny DM, Sodergren EJ, Lu X, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madan A, Young AC, Shevchenko Y, Bouffard GG, Blakesley RW, Touchman JW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Krzywinski MI, Skalska U, Smailus DE, Schnerch A, Schein JE, Jones SJ, Marra MA", "date": "2002" } ], "uniprot_ac": "A0PJX2", "site_annotation": [], "mutation": [ { "sequence_org": "S", "start_pos": 65, "subjects_positive": "1", "disease": [ { "synonyms": [ { "id": "1319", "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "name": "BT - Brain tumour", "description": "" }, { "id": "1319", "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "name": "adult brain tumor", "description": "" }, { "id": "1319", "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "1319", "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "name": "brain neoplasm", "description": "" }, { "id": "1319", "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "name": "brain neoplasm, adult", "description": "" }, { "id": "1319", "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "name": "malignant brain tumour", "description": "" }, { "id": "1319", "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "1319", "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "name": "malignant primary brain tumor", "description": "" }, { "id": "1319", "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "name": "malignant tumor of Brain", "description": "" }, { "id": "1319", "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "name": "malignant tumor of adult brain", "description": "" }, { "id": "1319", "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "name": "neoplasm of brain", "description": "" }, { "id": "1319", "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "name": "primary brain neoplasm", "description": "" }, { "id": "1319", "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "name": "primary brain tumor", "description": "" }, { "id": "1319", "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "1319", "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "name": "tumor of the Brain", "description": "" } ], "recommended_name": { "id": "1319", "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "name": "brain cancer", "description": "" } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A0PJX2", "id": "A0PJX2", "database": "BioMuta" } ], "frequency": "1.3", "sequence_mut": "R", "subjects_tested": "78", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "end_pos": 65, "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (1.3%)." }, { "sequence_org": "F", "start_pos": 193, "subjects_positive": "1", "disease": [ { "synonyms": [ { "id": "2531", "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "name": "Hematologic malignancy", "description": "" }, { "id": "2531", "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "name": "Hematologic neoplasm", "description": "" }, { "id": "2531", "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "name": "Hematological tumors", "description": "" }, { "id": "2531", "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "name": "blood cancer", "description": "" }, { "id": "2531", "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "2531", "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "name": "hematopoietic cancer", "description": "" }, { "id": "2531", "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "name": "hematopoietic neoplasm", "description": "" }, { "id": "2531", "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "name": "hematopoietic tumors", "description": "" }, { "id": "2531", "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "name": "malignant hematopoietic neoplasm", "description": "" } ], "recommended_name": { "id": "2531", "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "name": "hematologic cancer", "description": "" } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A0PJX2", "id": "A0PJX2", "database": "BioMuta" } ], "frequency": "2.1", "sequence_mut": "L", "subjects_tested": "48", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "end_pos": 193, "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. 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(1.5%)." }, { "sequence_org": "Q", "start_pos": 14, "subjects_positive": "1", "disease": [ { "synonyms": [ { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "thyroid neoplasm", "description": "" } ], "recommended_name": { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "thyroid gland cancer", "description": "" } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A0PJX2", "id": "A0PJX2", "database": "BioMuta" } ], "frequency": "2.0", "sequence_mut": "L", "subjects_tested": "50", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "end_pos": 14, "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.0%)." }, { "sequence_org": "P", "start_pos": 12, "subjects_positive": "1", "disease": [ { "synonyms": [ { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "thyroid neoplasm", "description": "" } ], "recommended_name": { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "thyroid gland cancer", "description": "" } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A0PJX2", "id": "A0PJX2", "database": "BioMuta" } ], "frequency": "2.0", "sequence_mut": "H", "subjects_tested": "50", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "end_pos": 12, "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.0%)." } ], "isoforms": [ { "url": "https://www.uniprot.org/uniprot/A0PJX2#A2A2J3-1", "isoform_ac": "A2A2J3-1", "locus": { "end_pos": 36887455, "start_pos": 36892868, "chromosome": "20", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000436941", "id": "ENST00000436941", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000394804", "id": "ENSP00000394804", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|A2A2J3-1|TLDC2_HUMAN Computationally mapped isoform of TLD domain-containing protein 2 OS=Homo sapiens OX=9606 GN=TLDC2 PE=2 SV=1 CANONICAL=A0PJX2-1", "length": 27, "sequence": "VFKWTGSNSFFVKGDLDSLMMGSGRIL" } }, { "url": "https://www.uniprot.org/uniprot/A0PJX2#A0PJX2-1", "isoform_ac": "A0PJX2-1", "locus": { "end_pos": 36876175, "start_pos": 36889383, "chromosome": "20", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000602922", "id": "ENST00000602922", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000473323", "id": "ENSP00000473323", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A0PJX2-1|TLDC2_HUMAN Isoform 1 of TLD domain-containing protein 2 OS=Homo sapiens OX=9606 GN=TLDC2 PE=2 SV=1 CANONICAL=A0PJX2-1", "length": 215, "sequence": "MRGLRWRYTRLPSQVEDTLSGEEGNEEEEEEEAAPDPAAAPEDPTVPQLTEASQVLSASEIRQLSFHFPPRVTGHPWSLVFCTSRDGFSLQSLYRRMEGCSGPVLLVLRDQDGQIFGAFSSSAIRLSKGFYGTGETFLFSFSPQLKVFKWTGSNSFFVKGDLDSLMMGSGSGRFGLWLDGDLFRGGSSPCPTFNNEVLARQEQFCIQELEAWLLS" } } ], "pathway": [ { "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:140711", "resource": "KEGG Pathway", "id": "hsa:140711", "name": "" } ], "function": [], "orthologs": [], "interactions": [], "synthesized_glycans": [], "refseq": { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001291712.1", "ac": "NP_001291712.1", "name": "TLD domain-containing protein 2 isoform 2", "summary": "" }, "go_annotation": {}, "gene_names": [ { "type": "synonym", "resource": "refseq", "name": "TLDC2" }, { "type": "recommended", "resource": "uniprotkb", "name": "TLDC2" }, { "type": "synonym", "resource": "refseq", "name": "C20orf118" } ], "crossref": [ { "url": "https://www.ebi.ac.uk/interpro/entry/IPR006571", "id": "IPR006571", "database": "InterPro" }, { "url": "http://www.orthodb.org/?query=767847at2759", "id": "767847at2759", "database": "OrthoDB" }, { "url": "https://www.nextprot.org/entry/NX_A0PJX2", "id": "NX_A0PJX2", "database": "neXtProt" }, { "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=16112", "id": "16112", "database": "HGNC" }, { "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=TLDC2", "id": "TLDC2", "database": "GeneCards" }, { "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:140711", "id": "hsa:140711", "database": "KEGG Pathway" }, { "url": "https://www.ebi.ac.uk/intact/interactors/id:A0PJX2*", "id": "A0PJX2", "database": "IntAct" }, { "url": "https://pharos.nih.gov/targets/A0PJX2", "id": "A0PJX2", "database": "PHAROS" }, { "url": "http://pfam.xfam.org/family/PF07534", "id": "PF07534", "database": "Pfam" }, { "url": "https://omabrowser.org/oma/group/QMEGCSG/", "id": "QMEGCSG", "database": "OMA" }, { "url": "https://www.ncbi.nlm.nih.gov/gene/140711", "id": "140711", "database": "GeneID" }, { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000101342", "id": "ENSG00000101342", "database": "Bgee" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001291712.1", "id": "NP_001291712.1", "database": "RefSeq" }, { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A0PJX2", "id": "A0PJX2", "database": "BioMuta" }, { "url": "http://research.bioinformatics.udel.edu/pro/entry/PR_A0PJX2", "id": "PR_A0PJX2", "database": "PRO" } ], "expression_disease": [ { "name": "Esophageal cancer [DO disease name]", "trend": "Up", "disease": { "doid": "5041", "url": "http://disease-ontology.org/term/DOID:5041", "icd10": "", "name": "Esophageal cancer" }, "evidence": [ { "url": 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"database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001160", "uberon": "0001160", "name": "Fundus of stomach" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000101342", "id": "ENSG00000101342", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0009853", "uberon": "0009853", "name": "Body of uterus" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000101342", "id": "ENSG00000101342", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000996", "uberon": "0000996", "name": "Vagina" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000101342", "id": "ENSG00000101342", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000178", "uberon": "0000178", "name": "Blood" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000101342", "id": "ENSG00000101342", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0002369", "uberon": "0002369", "name": "Adrenal gland" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000101342", "id": "ENSG00000101342", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001255", "uberon": "0001255", "name": "Urinary bladder" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000101342", "id": "ENSG00000101342", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0002046", "uberon": "0002046", "name": "Thyroid gland" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000101342", "id": "ENSG00000101342", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001150", "uberon": "0001150", "name": "Body of pancreas" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000101342", "id": "ENSG00000101342", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000955", "uberon": "0000955", "name": "Brain" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000101342", "id": "ENSG00000101342", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000992", "uberon": "0000992", "name": "Ovary" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000101342", "id": "ENSG00000101342", "database": "Bgee" } ] } ], "gene": [ { "url": "https://www.uniprot.org/uniprot/A0PJX2", "name": "TLDC2", "locus": { "end_pos": 36894235, "start_pos": 36876121, "chromosome": "20", "evidence": [ { "url": "https://www.ensembl.org/id/ENSG00000101342", "id": "ENSG00000101342", "database": "Ensembl Gene" } ] } } ], "protein_names": [ { "type": "synonym", "resource": "refseq", "name": "TBC/LysM-associated domain-containing protein 2; TLD domain-containing protein 2" }, { "type": "synonym", "resource": "refseq", "name": "TLD domain-containing protein 2 isoform 2" }, { "type": "synonym", "resource": "uniprotkb", "name": "LysM-associated domain-containing protein 2" }, { "type": "recommended", "resource": "uniprotkb", "name": "TLD domain-containing protein 2" } ] }