{ "uniprot_canonical_ac": "A2RRL7-1", "sequence": { "header": "sp|A2RRL7-1|TM213_HUMAN Isoform 1 of Transmembrane protein 213 OS=Homo sapiens OX=9606 GN=TMEM213 PE=3 SV=2 CANONICAL=A2RRL7-1", "length": 107, "sequence": "MQRLPAATRATLILSLAFASLHSACSAEASSSNSSSLTAHHPDPGTLEQCLNVDFCPQAARCCRTGVDEYGWIAAAVGWSLWFLTLILLCVDKLMKLTPDEPKDLQA" }, "uniprot_id": "TM213_HUMAN", "enzyme_annotation": [], "synonyms": { "protein": { "refseq": [ "transmembrane protein 213 precursor" ], "uniprotkb": [ "Transmembrane protein 213" ] }, "gene": { "refseq": [ "TMEM213" ], "uniprotkb": [ "TMEM213" ] } }, "keywords": [], "species": [ { "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RRL7", "id": "A2RRL7", "database": "UniProtKB" } ], "name": "Homo sapiens", "taxid": 9606 } ], "recommendedname": { "full": "Transmembrane protein 213." }, "publication": [ { "title": "Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/16344560", "journal": "Genome research", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001078898.1", "id": "NP_001078898.1", "database": "RefSeq" } ], "authors": "Kimura K, Wakamatsu A, Suzuki Y, Ota T, Nishikawa T, Yamashita R, Yamamoto J, Sekine M, Tsuritani K, Wakaguri H, Ishii S, Sugiyama T, Saito K, Isono Y, Irie R, Kushida N, Yoneyama T, Otsuka R, Kanda K, Yokoi T, Kondo H, Wagatsuma M, Murakawa K, Ishida S, Ishibashi T, Takahashi-Fujii A, Tanase T, Nagai K, Kikuchi H, Nakai K, Isogai T, Sugano S", "date": "2006", "pmid": "16344560" }, { "title": "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/12477932", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001078898.1", "id": "NP_001078898.1", "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", "pmid": "12477932" } ], "glycosylation": [], "mutation": [ { "start_pos": 36, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RRL7", "id": "A2RRL7", "database": "BioMuta" } ], "frequency": "1.0", "annotation": "Filters passed (1/5): patient freq. (1.0%).", "sequence_org": "S", "disease": { "doid": "11054", "url": "http://disease-ontology.org/term/DOID:11054", "icd10": "", "name": "Urinary bladder cancer" }, "sequence_mut": "T", "subjects_tested": "103", "end_pos": 36, "type": "Point mutation" }, { "start_pos": 35, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RRL7", "id": "A2RRL7", "database": "BioMuta" } ], "frequency": "2.0", "annotation": "Filters passed (1/5): patient freq. (2.0%).", "sequence_org": "S", "disease": { "doid": "1612", "url": "http://disease-ontology.org/term/DOID:1612", "icd10": "", "name": "Breast cancer" }, "sequence_mut": "L", "subjects_tested": "50", "end_pos": 35, "type": "Point mutation" } ], "isoforms": [ { "url": "https://www.uniprot.org/uniprot/A2RRL7#A2RRL7-1", "isoform_ac": "A2RRL7-1", "locus": { "end_pos": 138798105, "start_pos": 138803066, "chromosome": "7", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000442682", "id": "ENST00000442682", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000390407", "id": "ENSP00000390407", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A2RRL7-1|TM213_HUMAN Isoform 1 of Transmembrane protein 213 OS=Homo sapiens OX=9606 GN=TMEM213 PE=3 SV=2 CANONICAL=A2RRL7-1", "length": 107, "sequence": "MQRLPAATRATLILSLAFASLHSACSAEASSSNSSSLTAHHPDPGTLEQCLNVDFCPQAARCCRTGVDEYGWIAAAVGWSLWFLTLILLCVDKLMKLTPDEPKDLQA" } }, { "url": "https://www.uniprot.org/uniprot/A2RRL7#A2RRL7-2", "isoform_ac": "A2RRL7-2", "locus": { "end_pos": 138798105, "start_pos": 138803066, "chromosome": "7", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000458494", "id": "ENST00000458494", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000393891", "id": "ENSP00000393891", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A2RRL7-2|TM213_HUMAN Isoform 2 of Transmembrane protein 213 OS=Homo sapiens OX=9606 GN=TMEM213 PE=3 SV=2 CANONICAL=A2RRL7-1", "length": 83, "sequence": "MQRLPAATRATLILSLAFASLHSACSADVDFCPQAARCCRTGVDEYGWIAAAVGWSLWFLTLILLCVDKLMKLTPDEPKDLQA" } }, { "url": "https://www.uniprot.org/uniprot/A2RRL7#A2RRL7-3", "isoform_ac": "A2RRL7-3", "locus": { "end_pos": 138798105, "start_pos": 138803066, "chromosome": "7", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000397602", "id": "ENST00000397602", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000380727", "id": "ENSP00000380727", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A2RRL7-3|TM213_HUMAN Isoform 3 of Transmembrane protein 213 OS=Homo sapiens OX=9606 GN=TMEM213 PE=3 SV=2 CANONICAL=A2RRL7-1", "length": 106, "sequence": "MQRLPAATRATLILSLAFASLHSACSAASSSNSSSLTAHHPDPGTLEQCLNVDFCPQAARCCRTGVDEYGWIAAAVGWSLWFLTLILLCVDKLMKLTPDEPKDLQA" } }, { "url": "https://www.uniprot.org/uniprot/A2RRL7#A2RRL7-4", "isoform_ac": "A2RRL7-4", "locus": { "end_pos": 138798105, "start_pos": 138838029, "chromosome": "7", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000413208", "id": "ENST00000413208", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000401570", "id": "ENSP00000401570", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A2RRL7-4|TM213_HUMAN Isoform 4 of Transmembrane protein 213 OS=Homo sapiens OX=9606 GN=TMEM213 PE=3 SV=2 CANONICAL=A2RRL7-1", "length": 105, "sequence": "MQRLPAATRATLILSLAFASLHSACSAEASSSNSSSLTAHHPDPGTLEQCLRSGYLANLRGEADQLWKFCTVLCFWESRRSSSRIALMREAEEWPGWRSSVELVG" } } ], "pathway": [ { "url": "https://www.genome.jp/dbget-bin/www_bget?hsa:155006", "resource": "KEGG Pathway", "id": "hsa:155006", "name": "" } ], "function": [], "orthologs": [ { "uniprot_canonical_ac": "Q08EA8-1", "protein_name": "Transmembrane protein 213.", "sequence": { "length": 116, "sequence": "MAQSGVFLRNPGHLTSAPQAALLFSLVLTSFHLSCGTETSSSNSTLSAHHPDPGTLEQCANVDFCPLASLCCRASVDEYGWIAAAVGWSFWFLTLILLCVDKLMKLTPEEPKDLAA" }, "evidence": [ { "url": "http://www.informatics.jax.org/homology/28553", "id": "28553", "database": "MGI" } ], "organism": "Mus musculus", "tax_id": 10090 }, { "uniprot_canonical_ac": "D3ZZA5-1", "protein_name": "Transmembrane protein 213.", "sequence": { "length": 127, "sequence": "MFPTPEHLCSNMAQTGVFLRSPGYLTSAPQAALLFSLVLTSFYLCCGTEASSGNSTLSTHHPDPGTLEQCANVDFCPLASLCCRASVDEYGWIAAAVGWSFWFLTLILLCVDKLMKLTPEEPKDLAA" }, "evidence": [ { "url": "http://www.informatics.jax.org/homology/28553", "id": "28553", "database": "MGI" }, { "url": "https://omabrowser.org/oma/group/A2RRL7/", "id": "A2RRL7", "database": "OMA" } ], "organism": "Rattus norvegicus", "tax_id": 10116 } ], "refseq": { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001078898.1", "ac": "NP_001078898.1", "name": "transmembrane protein 213 precursor.", "summary": "" }, "go_annotation": { "categories": [ { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016021", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RRL7", "id": "A2RRL7", "database": "UniProtKB" } ], "name": "integral component of membrane", "id": "GO:0016021" } ], "total": 1, "name": "Cellular Component" } ] }, "site_annotation": [ { "end_pos": 35, "annotation": "n_glycosylation_sequon", "start_pos": 33 } ], "crossref": [ { "url": "https://www.ebi.ac.uk/intact/interactors/id:A2RRL7*", "id": "A2RRL7", "database": "IntAct" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR028121", "id": "IPR028121", "database": "InterPro" }, { "url": "http://pfam.xfam.org/family/PF15192", "id": "PF15192", "database": "Pfam" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001078898.1", "id": "NP_001078898.1", "database": "RefSeq" }, { "url": "https://www.genome.jp/dbget-bin/www_bget?hsa:155006", "id": "hsa:155006", "database": "KEGG Pathway" }, { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000214128", "id": "ENSG00000214128", "database": "Bgee" }, { "url": "https://omabrowser.org/oma/group/CHAGVDE/", "id": "CHAGVDE", "database": "OMA" }, { "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR36293", "id": "PTHR36293", "database": "PANTHER" }, { "url": "http://research.bioinformatics.udel.edu/pro/entry/PR_A2RRL7", "id": "PR_A2RRL7", "database": "PRO" }, { "url": "https://www.ncbi.nlm.nih.gov/gene/155006", "id": "155006", "database": "GeneID" }, { "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=27220", "id": "27220", "database": "HGNC" }, { "url": "https://www.nextprot.org/entry/NX_A2RRL7", "id": "NX_A2RRL7", "database": "neXtProt" }, { "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM213", "id": "TMEM213", "database": "GeneCards" } ], "expression_disease": [ { "trend": "Down", "disease": { "doid": "10283", "url": "http://disease-ontology.org/term/DOID:10283", "icd10": "", "name": "DOID:10283 / Prostate cancer [PCa]" }, "significant": "Yes", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A2RRL7", "id": "A2RRL7", "database": "BioXpress" } ] }, { "trend": "Down", "disease": { "doid": "3907", "url": "http://disease-ontology.org/term/DOID:3907", "icd10": "", "name": "DOID:3907 / Lung squamous cell carcinoma" }, "significant": "Yes", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A2RRL7", "id": "A2RRL7", "database": "BioXpress" } ] }, { "trend": "Down", "disease": { "doid": "5041", "url": "http://disease-ontology.org/term/DOID:5041", "icd10": "", "name": "DOID:5041 / Esophageal cancer [EC]" }, "significant": "No", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A2RRL7", "id": "A2RRL7", "database": "BioXpress" } ] }, { "trend": "Up", "disease": { "doid": "3571", "url": "http://disease-ontology.org/term/DOID:3571", "icd10": "", "name": "DOID:3571 / Liver cancer [Livca]" }, "significant": "No", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A2RRL7", "id": "A2RRL7", "database": "BioXpress" } ] }, { "trend": "Down", "disease": { "doid": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "icd10": "", "name": "DOID:1781 / Thyroid cancer [Thyca]" }, "significant": "No", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A2RRL7", "id": "A2RRL7", "database": "BioXpress" } ] }, { "trend": "Up", "disease": { "doid": "11054", "url": "http://disease-ontology.org/term/DOID:11054", "icd10": "", "name": "DOID:11054 / Urinary bladder cancer [UBC]" }, "significant": "No", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A2RRL7", "id": "A2RRL7", "database": "BioXpress" } ] }, { "trend": "Down", "disease": { "doid": "3910", "url": "http://disease-ontology.org/term/DOID:3910", "icd10": "", "name": "DOID:3910 / Lung adenocarcinoma" }, "significant": "No", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A2RRL7", "id": "A2RRL7", "database": "BioXpress" } ] } ], "uniprot_ac": "A2RRL7", "disease": [], "mass": { "monoisotopic_mass": 11520.0, "chemical_mass": 11520.0 }, "expression_tissue": [ { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0009853", "uberon": "0009853", "name": "Body of uterus" }, "present": "no", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000214128", "id": "ENSG00000214128", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000458", "uberon": "0000458", "name": "Endocervix" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000214128", "id": "ENSG00000214128", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000948", "uberon": "0000948", "name": "Heart" }, "present": "no", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000214128", "id": "ENSG00000214128", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000473", "uberon": "0000473", "name": "Testis" }, "present": "no", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000214128", "id": "ENSG00000214128", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0002369", "uberon": "0002369", "name": "Adrenal gland" }, "present": "no", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000214128", "id": "ENSG00000214128", "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=ENSG00000214128", "id": "ENSG00000214128", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000996", "uberon": "0000996", "name": "Vagina" }, "present": "no", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000214128", "id": "ENSG00000214128", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001155", "uberon": "0001155", "name": "Colon" }, "present": "no", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000214128", "id": "ENSG00000214128", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001987", "uberon": "0001987", "name": "Placenta" }, "present": "no", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000214128", "id": "ENSG00000214128", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000955", "uberon": "0000955", "name": "Brain" }, "present": "no", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000214128", "id": "ENSG00000214128", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001160", "uberon": "0001160", "name": "Fundus of stomach" }, "present": "no", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000214128", "id": "ENSG00000214128", "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=ENSG00000214128", "id": "ENSG00000214128", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0002048", "uberon": "0002048", "name": "Lung" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000214128", "id": "ENSG00000214128", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000007", "uberon": "0000007", "name": "Pituitary gland" }, "present": "no", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000214128", "id": "ENSG00000214128", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0002107", "uberon": "0002107", "name": "Liver" }, "present": "no", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000214128", "id": "ENSG00000214128", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0002046", "uberon": "0002046", "name": "Thyroid gland" }, "present": "no", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000214128", "id": "ENSG00000214128", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000178", "uberon": "0000178", "name": "Blood" }, "present": "no", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000214128", "id": "ENSG00000214128", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001043", "uberon": "0001043", "name": "Esophagus" }, "present": "no", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000214128", "id": "ENSG00000214128", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0002367", "uberon": "0002367", "name": "Prostate gland" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000214128", "id": "ENSG00000214128", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001161", "uberon": "0001161", "name": "Body of stomach" }, "present": "no", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000214128", "id": "ENSG00000214128", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001255", "uberon": "0001255", "name": "Urinary bladder" }, "present": "no", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000214128", "id": "ENSG00000214128", "database": "Bgee" } ] } ], "gene": [ { "url": "https://www.uniprot.org/uniprot/A2RRL7", "name": "TMEM213.", "locus": { "end_pos": 138838101, "start_pos": 138797952, "chromosome": "7", "evidence": [ { "url": "https://www.ensembl.org/id/ENSG00000214128", "id": "ENSG00000214128", "database": "Ensembl Gene" } ] } } ] }