{ "uniprot_canonical_ac": "O76082-1", "uniprot_ac": "O76082", "uniprot_id": "S22A5_HUMAN", "mass": { "chemical_mass": 62752.0, "monoisotopic_mass": 62752.0 }, "refseq": { "ac": "NP_001295051", "name": "organic cation/carnitine transporter 2 isoform a", "summary": "Polyspecific organic cation transporters in the liver, kidney, intestine, and other organs are critical for elimination of many endogenous small organic cations as well as a wide array of drugs and environmental toxins. The encoded protein is a plasma integral membrane protein which functions both as an organic cation transporter and as a sodium-dependent high affinity carnitine transporter. The encoded protein is involved in the active cellular uptake of carnitine. Mutations in this gene are the cause of systemic primary carnitine deficiency (CDSP), an autosomal recessive disorder manifested early in life by hypoketotic hypoglycemia and acute metabolic decompensation, and later in life by skeletal myopathy or cardiomyopathy. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2015].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001295051" }, "gene_names": [ { "name": "SLC22A5", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O76082", "id": "O76082" }, { "name": "CDSP; OCTN2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001295051", "id": "NP_001295051" }, { "name": "OCTN2", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O76082", "id": "O76082" }, { "name": "SLC22A5", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001295051", "id": "NP_001295051" } ], "protein_names": [ { "name": "Organic cation/carnitine transporter 2", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O76082" }, { "name": "High-affinity sodium-dependent carnitine cotransporter", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O76082" }, { "name": "Solute carrier family 22 member 5", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O76082" }, { "name": "organic cation/carnitine transporter 2 isoform a", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001295051", "id": "NP_001295051" }, { "name": "organic cation/carnitine transporter 2; high-affinity sodium dependent carnitine cotransporter; systemic carnitine deficiency", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001295051", "id": "NP_001295051" } ], "function": [ { "annotation": "Evaluation of the gene encoding carnitine transporter (OCTN2/SLC22A5) expression in human breast cancer and its association with clinicopathological characteristics.", "evidence": [ { "database": "RefSeq", "id": "NP_001295051", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001295051" }, { "database": "PubMed", "id": "36539562", "url": "https://glygen.org/publication/PubMed/36539562" } ] }, { "annotation": "Functional genomics of OCTN2 variants informs protein-specific variant effect predictor for Carnitine Transporter Deficiency.", "evidence": [ { "database": "RefSeq", "id": "NP_001295051", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001295051" }, { "database": "PubMed", "id": "36343260", "url": "https://glygen.org/publication/PubMed/36343260" } ] }, { "annotation": "Polyspecific organic cation transporters in the liver, kidney, intestine, and other organs are critical for elimination of many endogenous small organic cations as well as a wide array of drugs and environmental toxins. The encoded protein is a plasma integral membrane protein which functions both as an organic cation transporter and as a sodium-dependent high affinity carnitine transporter. The encoded protein is involved in the active cellular uptake of carnitine. Mutations in this gene are the cause of systemic primary carnitine deficiency (CDSP), an autosomal recessive disorder manifested early in life by hypoketotic hypoglycemia and acute metabolic decompensation, and later in life by skeletal myopathy or cardiomyopathy. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2015].", "evidence": [ { "database": "RefSeq", "id": "NP_001295051", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001295051" } ] }, { "annotation": "Retained in the ER, unable to perform carnitine uptake.", "evidence": [ { "database": "UniProtKB", "id": "O76082", "url": "https://www.uniprot.org/uniprot/O76082#function" }, { "database": "PubMed", "id": "17509700", "url": "https://glygen.org/publication/PubMed/17509700" } ] }, { "annotation": "Sodium-ion dependent, high affinity carnitine transporter. Involved in the active cellular uptake of carnitine. Transports one sodium ion with one molecule of carnitine (PubMed:10454528, PubMed:10525100, PubMed:10966938, PubMed:17509700, PubMed:20722056, PubMed:33124720). Also transports organic cations such as tetraethylammonium (TEA) without the involvement of sodium. Relative uptake activity ratio of carnitine to TEA is 11.3 (PubMed:10454528, PubMed:10525100, PubMed:10966938). In intestinal epithelia, transports the quorum-sensing pentapeptide CSF (competence and sporulation factor) from Bacillus Subtilis wich induces cytoprotective heat shock proteins contributing to intestinal homeostasis (PubMed:18005709). May also contribute to regulate the transport of organic compounds in testis across the blood-testis-barrier (Probable).", "evidence": [ { "database": "UniProtKB", "id": "O76082", "url": "https://www.uniprot.org/uniprot/O76082#function" }, { "database": "PubMed", "id": "10454528", "url": "https://glygen.org/publication/PubMed/10454528" }, { "database": "PubMed", "id": "17509700", "url": "https://glygen.org/publication/PubMed/17509700" }, { "database": "PubMed", "id": "20722056", "url": "https://glygen.org/publication/PubMed/20722056" }, { "database": "PubMed", "id": "18005709", "url": "https://glygen.org/publication/PubMed/18005709" }, { "database": "PubMed", "id": "10525100", "url": "https://glygen.org/publication/PubMed/10525100" }, { "database": "PubMed", "id": "35307651", "url": "https://glygen.org/publication/PubMed/35307651" }, { "database": "PubMed", "id": "10966938", "url": "https://glygen.org/publication/PubMed/10966938" } ] }, { "annotation": "The activity and surface presence of organic cation/carnitine transporter OCTN2 (SLC22A5) in breast cancer cells depends on AKT kinase.", "evidence": [ { "database": "RefSeq", "id": "NP_001295051", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001295051" }, { "database": "PubMed", "id": "37187422", "url": "https://glygen.org/publication/PubMed/37187422" } ] } ], "disease": [ { "disease_id": "DOID:14365", "recommended_name": { "id": "DOID:14365", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14365", "name": "systemic primary carnitine deficiency disease", "description": "An amino acid metabolic disorder that involves defective proteins called carnitine transporters, which bring carnitine into cells and prevent its escape from the body preventing the body cannot utilize fats for energy." }, "synonyms": [ { "id": "DOID:14365", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14365", "name": "deficiency of plasma-membrane carnitine transporter", "description": "" }, { "id": "DOID:14365", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14365", "name": "carnitine transporter deficiency", "description": "" }, { "id": "DOID:14365", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14365", "name": "carnitine uptake defect", "description": "" }, { "id": "DOID:14365", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14365", "name": "primary carnitine deficiency", "description": "" }, { "id": "DOID:14365", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14365", "name": "renal carnitine transport defect", "description": "" }, { "id": "MONDO:0008919", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008919", "name": "systemic primary carnitine deficiency disease", "description": "Systemic primary carnitine deficiency (SPCD) is a potentially lethal disorder of fatty acid oxidation characterized classically by early childhood onset cardiomyopathy often with weakness and hypotonia, failure to thrive and recurrent hypoglycemic hypoketotic seizures and/or coma." }, { "id": "MONDO:0008919", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008919", "name": "CDSP", "description": "" }, { "id": "MONDO:0008919", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008919", "name": "Carnitine deficiency", "description": "" }, { "id": "MONDO:0008919", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008919", "name": "Carnitine transporter defect", "description": "" }, { "id": "MONDO:0008919", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008919", "name": "Carnitine uptake deficiency", "description": "" }, { "id": "MONDO:0008919", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008919", "name": "SPCD", "description": "" }, { "id": "MONDO:0008919", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008919", "name": "carnitine transporter deficiency", "description": "" }, { "id": "MONDO:0008919", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008919", "name": "carnitine uptake defect", "description": "" }, { "id": "MONDO:0008919", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008919", "name": "cud", "description": "" }, { "id": "MONDO:0008919", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008919", "name": "deficiency of plasma-membrane carnitine transporter", "description": "" }, { "id": "MONDO:0008919", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008919", "name": "primary carnitine deficiency", "description": "" }, { "id": "MONDO:0008919", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008919", "name": "renal carnitine transport defect", "description": "" }, { "id": "MONDO:0008919", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008919", "name": "systemic primary carnitine deficiency disease", "description": "" }, { "id": "MONDO:0008919", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008919", "name": "CARNITINE deficiency, systemic primary", "description": "" }, { "id": "MONDO:0008919", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008919", "name": "Carnitine deficiency, primary", "description": "" }, { "id": "MONDO:0008919", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008919", "name": "Carnitine deficiency, systemic, due to defect in renal reabsorption of Carnitine", "description": "" }, { "id": "MONDO:0008919", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008919", "name": "Carnitine deficiency, systemic, due to defect in renal reabsorption of carnitine", "description": "" }, { "id": "MONDO:0008919", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008919", "name": "Carnitine plasma-membrane transporter deficiency", "description": "" }, { "id": "MONDO:0008919", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008919", "name": "Carnitine transporter, plasma-Membrane, deficiency of", "description": "" }, { "id": "MONDO:0008919", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008919", "name": "Carnitine uptake defect", "description": "" }, { "id": "MONDO:0008919", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008919", "name": "systemic Carnitine deficiency", "description": "" }, { "id": "MONDO:0008919", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008919", "name": "systemic primary carnitine deficiency", "description": "" }, { "id": "MIM:212140", "resource": "MIM", "url": "https://www.omim.org/entry/212140", "name": "Systemic primary carnitine deficiency", "description": "Systemic primary carnitine deficiency" } ], "evidence": [ { "id": "212140", "database": "MIM", "url": "https://www.omim.org/entry/212140" } ] } ], "snv": [ { "evidence": [ { "id": "rs772578415", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772578415" }, { "id": "rs772578415", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772578415" }, { "id": "rs772578415", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs772578415" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 26, "end_pos": 26, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SAS->NAS).", "chr_id": "5", "chr_pos": "132370049", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S26", "disease": [ { "disease_id": "DOID:14365", "recommended_name": { "id": "DOID:14365", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14365", "name": "systemic primary carnitine deficiency disease", "description": "An amino acid metabolic disorder that involves defective proteins called carnitine transporters, which bring carnitine into cells and prevent its escape from the body preventing the body cannot utilize fats for energy." }, "synonyms": [ { "id": "DOID:14365", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14365", "name": "deficiency of plasma-membrane carnitine transporter", "description": "" }, { "id": "DOID:14365", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14365", "name": "carnitine transporter deficiency", "description": "" }, { "id": "DOID:14365", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14365", "name": "carnitine uptake defect", "description": "" }, { "id": "DOID:14365", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14365", "name": "primary carnitine deficiency", "description": "" }, { "id": "DOID:14365", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14365", "name": "renal carnitine transport defect", "description": "" }, { "id": "MONDO:0008919", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008919", "name": "systemic primary carnitine deficiency disease", "description": "Systemic primary carnitine deficiency (SPCD) is a potentially lethal disorder of fatty acid oxidation characterized classically by early childhood onset cardiomyopathy often with weakness and hypotonia, failure to thrive and recurrent hypoglycemic hypoketotic seizures and/or coma." }, { "id": "MONDO:0008919", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008919", "name": "CDSP", "description": "" }, { "id": "MONDO:0008919", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008919", "name": "Carnitine deficiency", "description": "" }, { "id": "MONDO:0008919", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008919", "name": "Carnitine transporter defect", "description": "" }, { "id": "MONDO:0008919", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008919", "name": "Carnitine uptake deficiency", "description": "" }, { "id": "MONDO:0008919", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008919", "name": "SPCD", "description": "" }, { "id": "MONDO:0008919", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008919", "name": "carnitine transporter deficiency", "description": "" }, { "id": "MONDO:0008919", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008919", "name": "carnitine uptake defect", "description": "" }, { "id": "MONDO:0008919", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008919", "name": "cud", 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"https://monarchinitiative.org/disease/MONDO:0008919", "name": "Carnitine deficiency, primary", "description": "" }, { "id": "MONDO:0008919", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008919", "name": "Carnitine deficiency, systemic, due to defect in renal reabsorption of Carnitine", "description": "" }, { "id": "MONDO:0008919", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008919", "name": "Carnitine deficiency, systemic, due to defect in renal reabsorption of carnitine", "description": "" }, { "id": "MONDO:0008919", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008919", "name": "Carnitine plasma-membrane transporter deficiency", "description": "" }, { "id": "MONDO:0008919", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008919", "name": "Carnitine transporter, plasma-Membrane, deficiency of", "description": "" }, { "id": "MONDO:0008919", "resource": "MONDO", "url": 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{ "evidence": [ { "id": "rs1273557402", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1273557402" }, { "id": "rs1273557402", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1273557402" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 59, "end_pos": 59, "sequence_org": "S", "sequence_mut": "G", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NLS->NLG).", "chr_id": "5", "chr_pos": "132370147", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S59", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1482607262", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1482607262" }, { "id": "rs1482607262", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1482607262" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 59, 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"MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", 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"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", 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"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 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"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, 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"MRDYDEVTAFLGEWGPFQRLIFFLLSASIIPNGFTGLSSVFLIATPEHRCRVPDAANLSSAWRNHTVPLRLRDGREVPHSCRRYRLATIANFSALGLEPGRDVDLGQLEQESCLDGWEFSQDVYLSTIVTEWNLVCEDDWKAPLTISLFFVGVLLGSFISGQLSDRFGRKNVLFVTMGMQTGFSFLQIFSKNFEMFVVLFVLVGMGQISNYVAAFVLGMAIRLEFIPESPRWLISQGRFEEAEVIIRKAAKANGIVVPSTIFDPSELQDLSSKKQQSHNILDLLRTWNIRMVTIMSIMLWMTISVGYFGLSLDTPNLHGDIFVNCFLSAMVEVPAYVLAWLLLQYLPRRYSMATALFLGGSVLLFMQLVPPDLYYLATVLVMVGKFGVTAAFSMVYVYTAELYPTVVRNMGVGVSSTASRLGSILSPYFVYLGAYDRFLPYILMGSLTILTAILTLFLPESFGTPLPDTIDQMLRVKGMKHRKTPSHTRMLKDGQERPTILKSTAF", "length": 506, "header": "tr|A0A8I5KTN6-1|A0A8I5KTN6_HUMAN Computationally mapped isoform of Solute carrier family 22 member 5 OS=Homo sapiens OX=9606 GN=SLC22A5 PE=1 SV=1 CANONICAL=O76082-1" }, "locus": { "chromosome": "5", "start_pos": 132394269, "end_pos": 132369973, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000689271.1", "url": "https://www.ensembl.org/id/ENST00000689271.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000510797.1", "url": "https://www.ensembl.org/id/ENSP00000510797.1" } ] } }, { "isoform_ac": "A0A8I5KUR7-1", "url": "", "sequence": { "sequence": "MRDYDEVTAFLGEWGPFQRLIFFLLSASIIPNGFTGLSSVFLIATPEHRCRVPDAANLSSAWRNHTVPLRLRDGREVPHSCRRYRLATIANFSALGLEPGRDVDLGQLEQESCLDGWEFSQDVYLSTIVTEWNLVCEDDWKAPLTISLFFVGVLLGSFISGQLSDRFGRKNVLFVTMGMQTGFSFLQIFSKNFEMFVVLFVLVGMGQISNYVAAFVLGMAIRLEDRNSWQVSSYNILYVRSVHILCIWLHGAATVCLLHPRLADAAGGADDAGGAMRGTLVGRFEEAEVIIRKAAKANGIVVPSTIFDPSELQDLSSKKQQSHNILDLLRTWNIRMVTIMSIMLWMTISVGYFGLSLDTPNLHGDIFVNCFLSAMVEVPAYVLAWLLLQYLPRRYSMATALFLGGSVLLFMQLVPPDLYYLATVLVMVGKFGVTAAFSMVYVYTAELYPTVVRNMGVGVSSTASRLGSILSPYFVYLGAYDRFLPYILMGSLTILTAILTLFLPESFGTPLPDTIDQMLRVKGMKHRKTPSHTRMLKDGQERPTILKSTAF", "length": 551, "header": "tr|A0A8I5KUR7-1|S22A5_HUMAN Computationally mapped isoform of Organic cation/carnitine transporter 2 OS=Homo sapiens OX=9606 GN=SLC22A5 PE=1 SV=1 CANONICAL=O76082-1" }, "locus": { "chromosome": "5", "start_pos": 132394269, "end_pos": 132369973, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000692413.1", "url": "https://www.ensembl.org/id/ENST00000692413.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000509374.1", "url": "https://www.ensembl.org/id/ENSP00000509374.1" } ] } }, { "isoform_ac": "A0A8I5KUV4-1", "url": "", "sequence": { "sequence": "MRDYDEVTAFLGEWGPFQRLIFFLLSASIIPNGFTGLSSVFLIATPEHRCRVPDAANLSSAWRNHTVPLRLRDGREVPHSCRRYRLATIANFSALGLEPGRDVDLGQLEQESCLDGWEFSQDVYLSTIVTETVGPTML", "length": 138, "header": "tr|A0A8I5KUV4-1|S22A5_HUMAN Computationally mapped isoform of Organic cation/carnitine transporter 2 OS=Homo sapiens OX=9606 GN=SLC22A5 PE=1 SV=1 CANONICAL=O76082-1" }, "locus": { "chromosome": "5", "start_pos": 132378188, "end_pos": 132369973, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000692825.1", "url": "https://www.ensembl.org/id/ENST00000692825.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000509447.1", "url": "https://www.ensembl.org/id/ENSP00000509447.1" } ] } }, { "isoform_ac": "A0A8I5KW68-1", "url": "", "sequence": { "sequence": "XVGVLLGSFISGQLSDRFGRKNVLFVTMGMQTGFSFLQIFSKNFEMFVVLFVLVGMGQISNYVAAFVLVTRPKFQEAAVPQHSGSASNLEYPDGHHHVHNAVDDHISGLFWAFA", "length": 114, "header": "tr|A0A8I5KW68-1|A0A8I5KW68_HUMAN Computationally mapped isoform of Solute carrier family 22 member 5 OS=Homo sapiens OX=9606 GN=SLC22A5 PE=4 SV=1 CANONICAL=O76082-1" }, "locus": { "chromosome": "5", "start_pos": 132390726, "end_pos": 132378433, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000692355.1", "url": "https://www.ensembl.org/id/ENST00000692355.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000509316.1", "url": "https://www.ensembl.org/id/ENSP00000509316.1" } ] } }, { "isoform_ac": "A0A8I5KXW0-1", "url": "", "sequence": { "sequence": "MRDYDEVTAFLGEWGPFQRLIFFLLSASIIPNGFTGLSSVFLIATPEHRCRVPDAANLSSAWRNHTVPLRLRDGREVPHSCRRYRLATIANFSALGLEPGRDVDLGQLEQESCLDGWEFSQDVYLSTIVTEWNLVCEDDWKAPLTISLFFVGVLLGSFISGQLSDRFGRKNVLFVTMGMQTGFSFLQIFSKNFEMFVVLFVLVGMGQISNYVAAFVLGMAIRLEDRNSWQVSSYNILYVRSVHILCIWLHGAATVCLLHPRLADAAGGADDAGGAMRGTLVVHP", "length": 284, "header": "tr|A0A8I5KXW0-1|S22A5_HUMAN Computationally mapped isoform of Organic cation/carnitine transporter 2 OS=Homo sapiens OX=9606 GN=SLC22A5 PE=1 SV=1 CANONICAL=O76082-1" }, "locus": { "chromosome": "5", "start_pos": 132387033, "end_pos": 132369973, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000686757.1", "url": "https://www.ensembl.org/id/ENST00000686757.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000510721.1", "url": "https://www.ensembl.org/id/ENSP00000510721.1" } ] } }, { "isoform_ac": "A0A8I5KYG6-1", "url": "", "sequence": { "sequence": "MRDYDEVTAFLGEWGPFQRLIFFLLSASIIPNGFTGLSSVFLIATPEHRCRVPDAANLSSAWRNHTVPLRLRDGREVPHSCRRYRLATIANFSALGLEPGRDVDLGQLEQESCLDGWEFSQDVYLSTIVTEWNLVCEDDWKAPLTISLFFVGVLLGSFISGQLSDRFGRKNVLFVTMGMQTGFSFLQIFSKNFEMFVVLFVLVGMGQISNYVAAFVLGMAIRDRNSWQVSSYNILYVRSVHILCIWLHGAATVCLLHPRLADAAGGADDAGGAMRGTLVGGLTEIGPCTARFIPESPRWLISQGRFEEAEVIIRKAAKANGIVVPSTIFDPSELQDLSSKKQQSHNILDLLRTWNIRMVTIMSIMLWMTISVGYFGLSLDTPNLHGDIFVNCFLSAMVEVPAYVLAWLLLQYLPRRYSMATALFLGGSVLLFMQLVPPDLYYLATVLVMVGKFGVTAAFSMVYVYTAELYPTVVRNMGVGVSSTASRLGSILSPYFVYLGAYDRFLPYILMGSLTILTAILTLFLPESFGTPLPDTIDQMLRVKGMKHRKTPSHTRMLKDGQERPTILKSTAF", "length": 573, "header": "tr|A0A8I5KYG6-1|S22A5_HUMAN Computationally mapped isoform of Organic cation/carnitine transporter 2 OS=Homo sapiens OX=9606 GN=SLC22A5 PE=1 SV=1 CANONICAL=O76082-1" }, "locus": { "chromosome": "5", "start_pos": 132394269, "end_pos": 132369973, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000693308.1", "url": "https://www.ensembl.org/id/ENST00000693308.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000509770.1", "url": "https://www.ensembl.org/id/ENSP00000509770.1" } ] } }, { "isoform_ac": "A0A8I5QL37-1", "url": "", "sequence": { "sequence": "MRDYDEVTAFLGEWGPFQRLIFFLLSASIIPNGFTGLSSVFLIATPEHRCRVPDAANLSSAWRNHTVPLRLRDGREVPHSCRRYRLATIANFSALGLEPGRDVDLGQLEQESCLDGWEFSQDVYLSTIVTEWNLVCEDDWKAPLTISLFFVGVLLGSFISGQLSDRFGRKNVLFVTMGMQTGFSFLQIFSKNFEMFVVLFVLVGMGQISNYVAAFVLGMAIRLESVHILCIWLHGAATVCLLHPRLADAAGGADDAGGAMRGTLVVHP", "length": 268, "header": "tr|A0A8I5QL37-1|A0A8I5QL37_HUMAN Computationally mapped isoform of Solute carrier family 22 member 5 OS=Homo sapiens OX=9606 GN=SLC22A5 PE=1 SV=1 CANONICAL=O76082-1" }, "locus": { "chromosome": "5", "start_pos": 132387033, "end_pos": 132369973, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000690900.1", "url": "https://www.ensembl.org/id/ENST00000690900.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000510703.1", "url": "https://www.ensembl.org/id/ENSP00000510703.1" } ] } }, { "isoform_ac": "F8WCC9-1", "url": "", "sequence": { "sequence": "MRDYDEVTAFLGEWGPFQRLIFFLLSASIIPNGFTGLSSVFLIATPEHRCRVPDAANLSSAWRNHTVPLRLRDGREVPHSCRRYRLATIANFSALGLEPGRDVDLGQLEQESCLDGWEFSQDVYLSTIVTEGQKFLASQFV", "length": 141, "header": "tr|F8WCC9-1|F8WCC9_HUMAN Computationally mapped isoform of Solute carrier family 22 member 5 OS=Homo sapiens OX=9606 GN=SLC22A5 PE=1 SV=1 CANONICAL=O76082-1" }, "locus": { "chromosome": "5", "start_pos": 132385357, "end_pos": 132369973, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000437841.6", "url": "https://www.ensembl.org/id/ENST00000437841.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000400553.1", "url": "https://www.ensembl.org/id/ENSP00000400553.1" } ] } }, { "isoform_ac": "H7BZC0-1", "url": "", "sequence": { "sequence": "MRDYDEVTAFLGEWGPFQRLIFFLLSASIIPNGFTGLSSVFLIATPEHRCRVPDAANLSSAWRNHTVPLRLRDGREVPHSCRRYRLATIANFSALGLEPGRDVDLGQLEQESCLDGWEFSQDVYLSTIVTEWNLVCEDDWKAPLTISLFFVGVLLGSFISGQLSDRFGRKNVLFVTMGMQTGFSFLQIFSKNFEMFVVLFVLVGMGQISNYVAAFVLGMAIRFIPESPRWLISQGRFEEAEVIIRKAAKANGIVVPSTIFDPSELQDLSSKKQQSHNILDLLRTWNIRMVTIMSIMLWMTISVGYFGLSLDTPNLHGDIFVNCFLSAMVEVPAYVLAWLLLQYLPRRYSMATALFLGGSVLLFMQLVPPDLYYLATVLVMVGKFGVTAAFSMVYVYTAELYPTVVRNMGVGVSSTASRLGSILSPYFVYLE", "length": 431, "header": "tr|H7BZC0-1|S22A5_HUMAN Computationally mapped isoform of Organic cation/carnitine transporter 2 OS=Homo sapiens OX=9606 GN=SLC22A5 PE=1 SV=2 CANONICAL=O76082-1" }, "locus": { "chromosome": "5", "start_pos": 132394186, "end_pos": 132369973, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000415928.6", "url": "https://www.ensembl.org/id/ENST00000415928.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000388838.2", "url": "https://www.ensembl.org/id/ENSP00000388838.2" } ] } }, { "isoform_ac": "H7BZF0-1", "url": "", "sequence": { "sequence": "XFLQLQDLSSKKQQSHNILDLLRTWNIRMVTIMSIML", "length": 37, "header": "tr|H7BZF0-1|S22A5_HUMAN Computationally mapped isoform of Organic cation/carnitine transporter 2 OS=Homo sapiens OX=9606 GN=SLC22A5 PE=1 SV=1 CANONICAL=O76082-1" }, "locus": { "chromosome": "5", "start_pos": 132389021, "end_pos": 132388911, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000447841.5", "url": "https://www.ensembl.org/id/ENST00000447841.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000389284.1", "url": "https://www.ensembl.org/id/ENSP00000389284.1" } ] } }, { "isoform_ac": "H7C1R8-1", "url": "", "sequence": { "sequence": "MRDYDEVTAFLGEWGPFQRLIFFLLSASIIPNGFTGLSSVFLIATPEHRCRVPDAANLSSAWRNHTVPLRLRDGREVPHSCRRYRLATIANFSALGLEPGRDVDLGQLEQESCLDGWEFSQDVYLSTIVTEWNLVCEDDWKAPLTISLFFVGVLLGSFISGQLSDRFGRKNVLFVTMGMQTGFSFLQIFSKNFEMFVVLFVLVGMGQISNYVAAFVLGTEILGKSVRIIFSTLGVCIFYAFGYMVLPLFAYFIRDWRMLLVALTMPGVLCVALWWFIPESPRWLISQGRFEEAEVIIRKAAKANGIVVPSTIFDPSELQDLSSKKQQSHNILDLLRTWNIRMVTIMSIMLCDG", "length": 353, "header": "tr|H7C1R8-1|H7C1R8_HUMAN Computationally mapped isoform of Solute carrier family 22 member 5 OS=Homo sapiens OX=9606 GN=SLC22A5 PE=1 SV=2 CANONICAL=O76082-1" }, "locus": { "chromosome": "5", "start_pos": 132390782, "end_pos": 132369973, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000448810.6", "url": "https://www.ensembl.org/id/ENST00000448810.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000401860.2", "url": "https://www.ensembl.org/id/ENSP00000401860.2" } ] } }, { "isoform_ac": "O76082-1", "url": "", "sequence": { "sequence": "MRDYDEVTAFLGEWGPFQRLIFFLLSASIIPNGFTGLSSVFLIATPEHRCRVPDAANLSSAWRNHTVPLRLRDGREVPHSCRRYRLATIANFSALGLEPGRDVDLGQLEQESCLDGWEFSQDVYLSTIVTEWNLVCEDDWKAPLTISLFFVGVLLGSFISGQLSDRFGRKNVLFVTMGMQTGFSFLQIFSKNFEMFVVLFVLVGMGQISNYVAAFVLGTEILGKSVRIIFSTLGVCIFYAFGYMVLPLFAYFIRDWRMLLVALTMPGVLCVALWWFIPESPRWLISQGRFEEAEVIIRKAAKANGIVVPSTIFDPSELQDLSSKKQQSHNILDLLRTWNIRMVTIMSIMLWMTISVGYFGLSLDTPNLHGDIFVNCFLSAMVEVPAYVLAWLLLQYLPRRYSMATALFLGGSVLLFMQLVPPDLYYLATVLVMVGKFGVTAAFSMVYVYTAELYPTVVRNMGVGVSSTASRLGSILSPYFVYLGAYDRFLPYILMGSLTILTAILTLFLPESFGTPLPDTIDQMLRVKGMKHRKTPSHTRMLKDGQERPTILKSTAF", "length": 557, "header": "sp|O76082-1|S22A5_HUMAN Isoform 1 of Organic cation/carnitine transporter 2 OS=Homo sapiens OX=9606 GN=SLC22A5 PE=1 SV=1 CANONICAL=O76082-1" }, "locus": { "chromosome": "5", "start_pos": 132394269, "end_pos": 132369973, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000245407.8", "url": "https://www.ensembl.org/id/ENST00000245407.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000245407.3", "url": "https://www.ensembl.org/id/ENSP00000245407.3" } ] } }, { "isoform_ac": "O76082-2", "url": "", "sequence": { "sequence": "MWILLFQLSSALCFRMTISVGYFGLSLDTPNLHGDIFVNCFLSAMVEVPAYVLAWLLLQYLPRRYSMATALFLGGSVLLFMQLVPPDLYYLATVLVMVGKFGVTAAFSMVYVYTAELYPTVVRNMGVGVSSTASRLGSILSPYFVYLGAYDRFLPYILMGSLTILTAILTLFLPESFGTPLPDTIDQMLRVKGMKHRKTPSHTRMLKDGQERPTILKSTAF", "length": 221, "header": "sp|O76082-2|S22A5_HUMAN Isoform 2 of Organic cation/carnitine transporter 2 OS=Homo sapiens OX=9606 GN=SLC22A5 PE=1 SV=1 CANONICAL=O76082-1" }, "locus": {} }, { "isoform_ac": "O76082-3", "url": "", "sequence": { "sequence": "MRDYDEVTAFLGEWGPFQRLIFFLLSASIIPNGFTGLSSVFLIATPEHRCRVPDAANLSSAWRNHTVPLRLRDGREVPHSCRRYRLATIANFSALGLEPGRDVDLGQLEQESCLDGWEFSQDVYLSTIVTEQDSGAYNAMKNRMGKKPALCLPAQWNLVCEDDWKAPLTISLFFVGVLLGSFISGQLSDRFGRKNVLFVTMGMQTGFSFLQIFSKNFEMFVVLFVLVGMGQISNYVAAFVLGTEILGKSVRIIFSTLGVCIFYAFGYMVLPLFAYFIRDWRMLLVALTMPGVLCVALWWFIPESPRWLISQGRFEEAEVIIRKAAKANGIVVPSTIFDPSELQDLSSKKQQSHNILDLLRTWNIRMVTIMSIMLWMTISVGYFGLSLDTPNLHGDIFVNCFLSAMVEVPAYVLAWLLLQYLPRRYSMATALFLGGSVLLFMQLVPPDLYYLATVLVMVGKFGVTAAFSMVYVYTAELYPTVVRNMGVGVSSTASRLGSILSPYFVYLGAYDRFLPYILMGSLTILTAILTLFLPESFGTPLPDTIDQMLRVKGMKHRKTPSHTRMLKDGQERPTILKSTAF", "length": 581, "header": "sp|O76082-3|S22A5_HUMAN Isoform 3 of Organic cation/carnitine transporter 2 OS=Homo sapiens OX=9606 GN=SLC22A5 PE=1 SV=1 CANONICAL=O76082-1" }, "locus": { "chromosome": "5", "start_pos": 132394269, "end_pos": 132369973, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000435065.7", "url": "https://www.ensembl.org/id/ENST00000435065.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000402760.2", "url": "https://www.ensembl.org/id/ENSP00000402760.2" } ] } } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 57, "start_aa": "Asn", "end_pos": 57, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn57", "evidence": [ { "id": "O76082", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O76082#ptm_processing" }, { "id": "19349973", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19349973" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 64, "start_aa": "Asn", "end_pos": 64, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn64", "evidence": [ { "id": "O76082", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O76082#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 91, "start_aa": "Asn", "end_pos": 91, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn91", "evidence": [ { "id": "O76082", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O76082#ptm_processing" }, { "id": "19349973", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19349973" }, { "id": "17509700", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/17509700" }, { "id": "24190977", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24190977" }, { "id": "GLY_000143", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000143" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "O76082", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O76082" }, { "id": "37217939", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37217939" } ] } ], "phosphorylation": [ { "start_pos": 486, "end_pos": 486, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "Phosphotyrosine", "evidence": [ { "database": "UniProtKB", "id": "O76082", "url": "https://www.uniprot.org/uniprot/O76082" }, { "database": "PubMed", "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332" }, { "database": "iPTMnet", "id": "O76082", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O76082" } ], "site_lbl": "Tyr486" }, { "start_pos": 550, "end_pos": 550, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "O76082", "url": "https://www.uniprot.org/uniprot/O76082" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "O76082", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O76082" } ], "site_lbl": "Thr550" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported", "glycoprotein_predicted", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Mutations of OCTN2, an organic cation/carnitine transporter, lead to deficient cellular carnitine uptake in primary carnitine deficiency.", "journal": "Human molecular genetics", "date": "1999", "authors": "Tang NL, Ganapathy V, Wu X, Hui J, Seth P, Yuen PM, Wanders RJ, Fok TF, Hjelm NM", "evidence": [ { "database": "UniProtKB", "id": "O76082", "url": "https://www.uniprot.org/uniprot/O76082" }, { "database": "Reactome", "id": "R-HSA-549127", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-549127" } ], "reference": [ { "type": "PubMed", "id": "10072434", "url": "https://glygen.org/publication/PubMed/10072434" } ] }, { "title": "Molecular identification of the corticosterone-sensitive extraneuronal catecholamine transporter.", "journal": "Nature neuroscience", "date": "1998", "authors": "Grundemann D, Schechinger B, Rappold GA, Schomig E", "evidence": [ { "database": "Reactome", "id": "R-HSA-549127", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-549127" } ], "reference": [ { "type": "PubMed", "id": "10196521", "url": "https://glygen.org/publication/PubMed/10196521" } ] }, { "title": "Carnitine transporter OCTN2 mutations in systemic primary carnitine deficiency: a novel Arg169Gln mutation and a recurrent Arg282ter mutation associated with an unconventional splicing abnormality.", "journal": "Biochemical and biophysical research communications", "date": "1999", "authors": "Burwinkel B, Kreuder J, Schweitzer S, Vorgerd M, Gempel K, Gerbitz KD, Kilimann MW", "evidence": [ { "database": "UniProtKB", "id": "O76082", "url": "https://www.uniprot.org/uniprot/O76082" }, { "database": "Reactome", "id": "R-HSA-5619053", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5619053" } ], "reference": [ { "type": "PubMed", "id": "10425211", "url": "https://glygen.org/publication/PubMed/10425211" } ] }, { "title": "Functional characteristics and tissue distribution pattern of organic cation transporter 2 (OCTN2), an organic cation/carnitine transporter.", "journal": "The Journal of pharmacology and experimental therapeutics", "date": "1999", "authors": "Wu X, Huang W, Prasad PD, Seth P, Rajan DP, Leibach FH, Chen J, Conway SJ, Ganapathy V", "evidence": [ { "database": "UniProtKB", "id": "O76082", "url": "https://www.uniprot.org/uniprot/O76082" } ], "reference": [ { "type": "PubMed", "id": "10454528", "url": "https://glygen.org/publication/PubMed/10454528" } ] }, { "title": "Identification of two novel mutations in OCTN2 of three patients with systemic carnitine deficiency.", 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Genet.", "date": "1999", "authors": "Nezu J, Tamai I, Oku A, Ohashi R, Yabuuchi H, Hashimoto N, Nikaido H, Sai Y, Koizumi A, Shoji Y, Takada G, Matsuishi T, Yoshino M, Kato H, Ohura T, Tsujimoto G, Hayakawa J, Shimane M, Tsuji A", "evidence": [ { "database": "UniProtKB", "id": "O76082", "url": "https://www.uniprot.org/uniprot/O76082" }, { "database": "Reactome", "id": "R-HSA-5619053", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5619053" } ], "reference": [ { "type": "PubMed", "id": "9916797", "url": "https://glygen.org/publication/PubMed/9916797" } ] } ], "pathway": [ { "id": "hsa:6584", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:6584", "resource": "KEGG Pathway" }, { "id": "R-HSA-200425", "name": "Carnitine metabolism", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-200425", "resource": "Reactome", "description": "Carnitine metabolism" }, { "id": "R-HSA-549127", "name": "Organic cation transport", "url": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "O76082", "url": "https://www.uniprot.org/uniprot/O76082" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "O76082", "url": "https://www.uniprot.org/uniprot/O76082" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "O76082", "url": "https://www.uniprot.org/uniprot/O76082" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "O76082", "url": "https://www.uniprot.org/uniprot/O76082" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "O76082", "url": "https://www.uniprot.org/uniprot/O76082" } ], "pmid": "" }, { "name": "extracellular exosome", "id": "GO:0070062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070062", "evidence": [ { "database": "UniProtKB", "id": "O76082", "url": "https://www.uniprot.org/uniprot/O76082" } ], "pmid": "" }, { "name": "apical plasma membrane", "id": "GO:0016324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016324", "evidence": [ { "database": "UniProtKB", "id": "O76082", "url": "https://www.uniprot.org/uniprot/O76082" } ], "pmid": "" }, { "name": "brush border membrane", "id": "GO:0031526", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031526", "evidence": [ { "database": "UniProtKB", "id": "O76082", "url": "https://www.uniprot.org/uniprot/O76082" } ], "pmid": "" }, { "name": "basal plasma membrane", "id": "GO:0009925", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009925", "evidence": [ { "database": "UniProtKB", "id": "O76082", "url": "https://www.uniprot.org/uniprot/O76082" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 9, "go_terms": [ { "name": "quaternary ammonium group transmembrane transporter activity", "id": "GO:0015651", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015651", "evidence": [ { "database": "UniProtKB", "id": "O76082", "url": "https://www.uniprot.org/uniprot/O76082" } ], "pmid": "" }, { "name": "amino-acid betaine transmembrane transporter activity", "id": "GO:0015199", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015199", "evidence": [ { "database": "UniProtKB", "id": "O76082", "url": "https://www.uniprot.org/uniprot/O76082" } ], "pmid": "" }, { "name": "xenobiotic transmembrane transporter activity", "id": "GO:0042910", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042910", "evidence": [ { "database": "UniProtKB", "id": "O76082", "url": "https://www.uniprot.org/uniprot/O76082" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "O76082", "url": "https://www.uniprot.org/uniprot/O76082" } ], "pmid": "" }, { "name": "symporter activity", "id": "GO:0015293", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015293", "evidence": [ { "database": "UniProtKB", "id": "O76082", "url": "https://www.uniprot.org/uniprot/O76082" } ], "pmid": "" }, { "name": "PDZ domain binding", "id": "GO:0030165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030165", "evidence": [ { "database": "UniProtKB", "id": "O76082", "url": "https://www.uniprot.org/uniprot/O76082" } ], "pmid": "" }, { "name": "carnitine transmembrane transporter activity", "id": "GO:0015226", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015226", "evidence": [ { "database": "UniProtKB", "id": "O76082", "url": "https://www.uniprot.org/uniprot/O76082" } ], "pmid": "" }, { "name": "(R)-carnitine transmembrane transporter activity", "id": "GO:1901235", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901235", "evidence": [ { "database": "UniProtKB", "id": "O76082", "url": "https://www.uniprot.org/uniprot/O76082" } ], "pmid": "" }, { "name": "transmembrane transporter activity", "id": "GO:0022857", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022857", "evidence": [ { "database": "UniProtKB", "id": "O76082", "url": "https://www.uniprot.org/uniprot/O76082" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 13, "go_terms": [ { "name": "quaternary ammonium group transport", "id": "GO:0015697", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015697", "evidence": [ { "database": "UniProtKB", "id": "O76082", "url": "https://www.uniprot.org/uniprot/O76082" } ], "pmid": "" }, { "name": "response to symbiotic bacterium", "id": "GO:0009609", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009609", "evidence": [ { "database": "UniProtKB", "id": "O76082", "url": "https://www.uniprot.org/uniprot/O76082" } ], "pmid": "" }, { "name": "response to tumor necrosis factor", "id": "GO:0034612", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034612", "evidence": [ { "database": "UniProtKB", "id": "O76082", "url": "https://www.uniprot.org/uniprot/O76082" } ], "pmid": "" }, { "name": "sodium ion transport", "id": "GO:0006814", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006814", "evidence": [ { "database": "UniProtKB", "id": "O76082", "url": "https://www.uniprot.org/uniprot/O76082" } ], "pmid": "" }, { "name": "positive regulation of intestinal epithelial structure maintenance", "id": "GO:0060731", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060731", "evidence": [ { "database": "UniProtKB", "id": "O76082", "url": "https://www.uniprot.org/uniprot/O76082" } ], "pmid": "" }, { "name": "sodium-dependent organic cation transport", "id": "GO:0070715", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070715", "evidence": [ { "database": "UniProtKB", "id": "O76082", "url": "https://www.uniprot.org/uniprot/O76082" } ], "pmid": "" }, { "name": "carnitine transmembrane transport", "id": "GO:1902603", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902603", "evidence": [ { "database": "UniProtKB", "id": "O76082", "url": "https://www.uniprot.org/uniprot/O76082" } ], "pmid": "" }, { "name": "response to type II interferon", "id": "GO:0034341", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034341", "evidence": [ { "database": "UniProtKB", "id": "O76082", "url": "https://www.uniprot.org/uniprot/O76082" } ], "pmid": "" }, { "name": "carnitine transport", "id": "GO:0015879", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015879", "evidence": [ { "database": "UniProtKB", "id": "O76082", "url": "https://www.uniprot.org/uniprot/O76082" } ], "pmid": "" }, { "name": "xenobiotic detoxification by transmembrane export across the plasma membrane", "id": "GO:1990961", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990961", "evidence": [ { "database": "UniProtKB", "id": "O76082", "url": "https://www.uniprot.org/uniprot/O76082" } ], "pmid": "" }, { "name": "transport across blood-brain barrier", "id": "GO:0150104", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0150104", "evidence": [ { "database": "UniProtKB", "id": "O76082", "url": "https://www.uniprot.org/uniprot/O76082" } ], "pmid": "" }, { "name": "(R)-carnitine transmembrane transport", "id": "GO:1902270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902270", "evidence": [ { "database": "UniProtKB", "id": "O76082", "url": "https://www.uniprot.org/uniprot/O76082" } ], "pmid": "" }, { "name": "(R)-carnitine transport", "id": "GO:1900749", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900749", "evidence": [ { "database": "UniProtKB", "id": "O76082", "url": "https://www.uniprot.org/uniprot/O76082" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 57, "end_pos": 59, "annotation": "n_glycosylation_sequon" }, { "start_pos": 64, "end_pos": 66, "annotation": "n_glycosylation_sequon" }, { "start_pos": 91, "end_pos": 93, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [ { "annotation": "Glycosylated. Glycosylation affects the expression levels.", "evidence": [ { "database": "UniProtKB", "id": "O76082", "url": "https://www.uniprot.org/uniprot/O76082" }, { "database": "PubMed", "id": "17509700", "url": "https://glygen.org/publication/PubMed/17509700" } ] }, { "annotation": "Not glycosylated.", "evidence": [ { "database": "UniProtKB", "id": "O76082", "url": "https://www.uniprot.org/uniprot/O76082" }, { "database": "PubMed", "id": "17509700", "url": "https://glygen.org/publication/PubMed/17509700" } ] } ], "interactions": [], "reactions": [ { "id": "72091", "name": "", "equation": "(R)-carnitine(out) + Na(+)(out) = (R)-carnitine(in) + Na(+)(in)", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [], "evidence": [ { "id": "72091", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/72091" } ] }, { "id": "72095", "name": "", "equation": "(S)-carnitine(out) + Na(+)(out) = (S)-carnitine(in) + Na(+)(in)", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [], "evidence": [ { "id": "72095", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/72095" } ] }, { "id": "72099", "name": "", "equation": "Na(+)(out) + O-acetyl-(R)-carnitine(out) = Na(+)(in) + O-acetyl-(R)-carnitine(in)", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [], "evidence": [ { "id": "72099", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/72099" } ] }, { "id": "72103", "name": "", "equation": "Na(+)(out) + O-propanoyl-(R)-carnitine(out) = Na(+)(in) + O-propanoyl-(R)-carnitine(in)", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [], "evidence": [ { "id": "72103", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/72103" } ] }, { "id": "72107", "name": "", "equation": "Na(+)(out) + O-acyl-(R)-carnitine(out) = Na(+)(in) + O-acyl-(R)-carnitine(in)", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [], "evidence": [ { "id": "72107", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/72107" } ] }, { "id": "72111", "name": "", "equation": "L-glutamyl-L-arginyl-glycyl-L-methionyl-L-threonine(out) + Na(+)(out) = L-glutamyl-L-arginyl-glycyl-L-methionyl-L-threonine(in) + Na(+)(in)", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [], "evidence": [ { "id": "72111", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/72111" } ] }, { "id": "72115", "name": "", "equation": "glycine betaine(out) + Na(+)(out) = glycine betaine(in) + Na(+)(in)", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [], "evidence": [ { "id": "72115", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/72115" } ] }, { "id": "72119", "name": "", "equation": "(R)-carnitine(in) + glycine betaine(out) = (R)-carnitine(out) + glycine betaine(in)", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [], "evidence": [ { "id": "72119", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/72119" } ] }, { "id": "72123", "name": "", "equation": "Na(+)(out) + O-butanoyl-(R)-carnitine(out) = Na(+)(in) + O-butanoyl-(R)-carnitine(in)", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [], "evidence": [ { "id": "72123", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/72123" } ] }, { "id": "76591", "name": "", "equation": "N,N-dimethylglycine(out) + Na(+)(out) = N,N-dimethylglycine(in) + Na(+)(in)", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [], "evidence": [ { "id": "76591", "database": "Rhea", "url": 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