{ "uniprot_canonical_ac": "A6NFX1-1", "uniprot_ac": "A6NFX1", "uniprot_id": "MFS2B_HUMAN", "mass": { "chemical_mass": 53743.0, "monoisotopic_mass": 53743.0 }, "refseq": { "ac": "NP_001333809", "name": "sphingosine-1-phosphate transporter MFSD2B", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001333809" }, "gene_names": [ { "name": "MFSD2B", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/A6NFX1", "id": "A6NFX1" }, { "name": "MFSD2B", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001333809", "id": "NP_001333809" }, { "name": "SLC59A2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001333809", "id": "NP_001333809" } ], "protein_names": [ { "name": "Sphingosine-1-phosphate transporter MFSD2B", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "A6NFX1" }, { "name": "Major facilitator superfamily domain-containing protein 2B", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "A6NFX1" }, { "name": "hMfsd2b", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "A6NFX1" }, { "name": "major facilitator superfamily domain-containing protein 2b; hMfsd2b; S1P transporter; sphingosine 1-phosphate transporter; major facilitator superfamily domain containing 2B", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001333809", "id": "NP_001333809" }, { "name": "sphingosine-1-phosphate transporter MFSD2B", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001333809", "id": "NP_001333809" } ], "function": [ { "annotation": "An erythrocyte-centric view on the MFSD2B sphingosine-1-phosphate transporter. Review article", "evidence": [ { "database": "RefSeq", "id": "NP_001333809", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001333809" }, { "database": "PubMed", "id": "37390971", "url": "https://glygen.org/publication/PubMed/37390971" } ] }, { "annotation": "Lipid transporter that specifically mediates export of sphingosine-1-phosphate in red blood cells and platelets (PubMed:29045386). Sphingosine-1-phosphate is a signaling sphingolipid and its export from red blood cells into in the plasma is required for red blood cell morphology (By similarity). Sphingosine-1-phosphate export from platelets is required for platelet aggregation and thrombus formation (By similarity). Mediates the export of different sphingosine-1-phosphate (S1P) species, including S1P(d18:0) (sphinganine 1-phosphate), S1P (d18:1) (sphing-4-enine 1-phosphate) and S1P (d18:2) (sphinga-4E,14Z-dienine-1-phosphate) (Probable). Release of sphingosine-1-phosphate is facilitated by a proton gradient (By similarity). In contrast, cations, such as sodium, are not required to drive sphingosine-1-phosphate transport (Probable). In addition to export, also able to mediate S1P import (By similarity). Does not transport lysophosphatidylcholine (LPC) (Probable).", "evidence": [ { "database": "UniProtKB", "id": "A6NFX1", "url": "https://www.uniprot.org/uniprot/A6NFX1#function" }, { "database": "PubMed", "id": "29045386", "url": "https://glygen.org/publication/PubMed/29045386" }, { "database": "UniProtKB", "id": "Q3T9M1", "url": "https://www.uniprot.org/uniprot/Q3T9M1#function" }, { "database": "PubMed", "id": "29563527", "url": "https://glygen.org/publication/PubMed/29563527" } ] }, { "annotation": "Results identify Mfsd2a (major facilitator superfamily domain-containing protein 2a) and an additional closely related protein Mfsd2b, and suggest that Mfsd2a plays a role in adaptive thermogenesis.", "evidence": [ { "database": "RefSeq", "id": "NP_001333809", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001333809" }, { "database": "PubMed", "id": "18694395", "url": "https://glygen.org/publication/PubMed/18694395" } ] }, { "annotation": "Revealing concealed cardioprotection by platelet Mfsd2b-released S1P in human and murine myocardial infarction. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001333809", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001333809" }, { "database": "PubMed", "id": "37100836", "url": "https://glygen.org/publication/PubMed/37100836" } ] }, { "annotation": "S1P secretion by Mfsd2b is critical for red blood cell morphology; data reveal an unexpected physiological role of red blood cells in sphingolipid metabolism in circulation; findings open new avenues for investigating the signalling roles of S1P derived from red blood cells and platelets", "evidence": [ { "database": "RefSeq", "id": "NP_001333809", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001333809" }, { "database": "PubMed", "id": "29045386", "url": "https://glygen.org/publication/PubMed/29045386" } ] }, { "annotation": "Using microarray analysis of erythroid cell lines overexpressing human and mouse MFSD2B study showed sphingosine 1-phosphate (S1P) transport activity. The properties of S1P release by MFSD2B were similar to those in erythrocytes. Moreover, knockout of MFSD2B in MEDEP-E14 cells decreased S1P export from the cells. These results strongly suggest that MFSD2B is a novel S1P transporter in erythroid cells. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001333809", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001333809" }, { "database": "PubMed", "id": "29563527", "url": "https://glygen.org/publication/PubMed/29563527" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "A6NFX1", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A6NFX1" } ], "glycoeffect": [], "start_pos": 463, "end_pos": 463, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "T", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (4).", "chr_id": "2", "chr_pos": "24024168", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "A463", "disease": [ { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ] }, { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "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", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "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", 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"MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "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": "Yes", "trend": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "A6NFX1", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A6NFX1" } ], "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", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "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": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "A6NFX1", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A6NFX1" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": 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"name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "A6NFX1", "url": "https://www.uniprot.org/uniprot/A6NFX1" } ], "common_name": "Human" } ], "gene": [ { "name": "MFSD2B", "url": "https://www.uniprot.org/uniprot/A6NFX1", "locus": { "chromosome": "2", "start_pos": 24063321, "end_pos": 24010081, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000205639", "url": "https://www.ensembl.org/id/ENSG00000205639" } ] } } ], "crossref": [ { "id": "ENSG00000205639", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000205639", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "A6NFX1", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A6NFX1", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "cd17452", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd17452", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "MFSD2B", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=MFSD2B", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "388931", "url": "https://www.ncbi.nlm.nih.gov/gene/388931", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "37207", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=37207", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "IPR036259", "url": "https://www.ebi.ac.uk/interpro/entry/IPR036259", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR039672", "url": "https://www.ebi.ac.uk/interpro/entry/IPR039672", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:388931", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:388931", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "617845", "url": "http://www.omim.org/entry/617845", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_A6NFX1", "url": "https://www.nextprot.org/entry/NX_A6NFX1", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "A6NFX1", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=A6NFX1", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "LPMAEWF", "url": "https://omabrowser.org/oma/group/LPMAEWF/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "6761at2759", "url": "http://www.orthodb.org/?query=6761at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR11328", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11328", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR11328:SF30", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11328:SF30", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF13347", "url": "http://pfam.xfam.org/family/PF13347", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "A6NFX1", "url": "https://pharos.nih.gov/targets/A6NFX1", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_A6NFX1", "url": "http://purl.obolibrary.org/obo/PR_A6NFX1", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-1660661", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660661", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_001333809", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001333809", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "38667", "url": "https://www.rhea-db.org/rhea/38667", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "38671", "url": "https://www.rhea-db.org/rhea/38671", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "70207", "url": "https://www.rhea-db.org/rhea/70207", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "A0A2I3JL00", "url": "https://www.uniprot.org/uniprot/A0A2I3JL00", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A2I3JL00-1", "url": "https://www.uniprot.org/uniprot/A0A2I3JL00-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A590UK14", "url": "https://www.uniprot.org/uniprot/A0A590UK14", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A590UK14-1", "url": "https://www.uniprot.org/uniprot/A0A590UK14-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A6NFX1", "url": "https://www.uniprot.org/uniprot/A6NFX1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A6NFX1-1", "url": "https://www.uniprot.org/uniprot/A6NFX1-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H7BZN4", "url": "https://www.uniprot.org/uniprot/H7BZN4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H7BZN4-1", "url": "https://www.uniprot.org/uniprot/H7BZN4-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MAAPPAPAAKGSPQPEPHAPEPGPGSAKRGREDSRAGRLSFCTKVCYGIGGVPNQIASSATAFYLQLFLLDIAQIPAAQVSLVLFGGKVSGAAADPVAGFFINRSQRTGSGRLMPWVLGCTPFIALAYFFLWFLPPFTSLRGLWYTTFYCLFQALATFFQVPYTALTMLLTPCPRERDSATAYRMTVEMAGTLMGATVHGLIVSGAHRPHRCEATATPGPVTVSPNAAHLYCIAAAVVVVTYPVCISLLCLGVKERPDPSAPASGPGLSFLAGLSLTTRHPPYLKLVISFLFISAAVQVEQSYLVLFCTHASQLHDHVQGLVLTVLVSAVLSTPLWEWVLQRFGKKTSAFGIFAMVPFAILLAAVPTAPVAYVVAFVSGVSIAVSLLLPWSMLPDVVDDFQLQHRHGPGLETIFYSSYVFFTKLSGACALGISTLSLEFSGYKAGVCKQAEEVVVTLKVLIGAVPTCMILAGLCILMVGSTPKTPSRDASSRLSLRRRTSYSLA", "length": 504, "header": "sp|A6NFX1-1|MFS2B_HUMAN Isoform 1 of Sphingosine-1-phosphate transporter MFSD2B OS=Homo sapiens OX=9606 GN=MFSD2B PE=1 SV=4 CANONICAL=A6NFX1-1" }, "isoforms": [ { "isoform_ac": "A0A2I3JL00-1", "url": "", "sequence": { "sequence": "MAAPPAPAAKGSPQPEPHAPEPGPGSAKRGREDSRAGRLSFCTKVCYGIGGVPNQIASSATAFYLQLFLLDIAQIPAAQVSLVLFGGKVSGAAADPVAGFFINRSQRTGSGRLMPWVLGCTPFIALAYFFLWFLPPFTSLRGLWYTTFYCLFQALATFFQVPYTALTMLLTPCPRERDSATAYRMTVEMAGTLMGATVHGLIVSGAHRPHRCEATATPGPVTVSPNAAHLYCIAAAVVVVTYPVCISLLCLGVKERPDPSAPASGPGLSFLAGLSLTTRHPPYLKLVISFLFISAAVQVEQSYLVLFCTHASQLHDHVQGLVLTVLVSAVLSTPLWEWVLQRFGKKTSAFGIFAMVPFAILLAAVPTAPVAYVVAFVSGVSIAVSLLLPWSMLPDVVDDFQLQHRHGPGLETIFYSSYVFFTKLSGACALGISTLSLEFSGYKAGVCKQAEEVVVTLKVLIGAVPTCMILAGLCILMVGSTPKTPSRDASSRLSLRR", "length": 497, "header": "tr|A0A2I3JL00-1|MFS2B_HUMAN Computationally mapped isoform of Sphingosine-1-phosphate transporter MFSD2B OS=Homo sapiens OX=9606 GN=MFSD2B PE=1 SV=1 CANONICAL=A6NFX1-1" }, "locus": { "chromosome": "2", "start_pos": 24024272, "end_pos": 24010097, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000406420.7", "url": "https://www.ensembl.org/id/ENST00000406420.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000385527.3", "url": "https://www.ensembl.org/id/ENSP00000385527.3" } ] } }, { "isoform_ac": "A0A590UK14-1", "url": "", "sequence": { "sequence": "MAAPPAPAAKGSPQPEPHAPEPGPGSAKRGREDSRAGRLSFCTKVCYGIGGVPNQIASSATAFYLQLFLLDIAQIPAAQVSLVLFGGKVSGAAADPVAGFFINRSQRTGSGRLMPWVLGCTPFIALAYFFLWFLPPFTSLRGLWYTTFYCLFQALATFFQVPYTALTMLLTPCPRERDSATAYRMTVEMAGTLMGATVHGLIVSGAHRPHRCEATATPGPVTVSPNAVEQSYLALFCTHASQLHDHVQDLVLAVLAHLYCIAAAVVVVTYPVCISLLCLGVKERPDPSAPASGPGLSFLAGLSLTTRHPPYLKLVISFLFISAAVQVEQSYLVLFCTHASQLHDHVQGLVLTVLVSAVLSTPLWEWVLQRFGKKTSAFGIFAMVPFAILLAAVPTAPVAYVVAFVSGVSIAVSLLLPWSMLPDVVDDFQLQHRHGPGLETIFYSSYVFFTKLSGACALGISTLSLEFSGYKAGVCKQAEEVVVTLKVLIGAVPTCMILAGLCILMVGSTPKTPSRDASSRLSLRRRTSYSLA", "length": 532, "header": "tr|A0A590UK14-1|MFS2B_HUMAN Computationally mapped isoform of Sphingosine-1-phosphate transporter MFSD2B OS=Homo sapiens OX=9606 GN=MFSD2B PE=1 SV=1 CANONICAL=A6NFX1-1" }, "locus": { "chromosome": "2", "start_pos": 24025453, "end_pos": 24010097, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000669179.1", "url": "https://www.ensembl.org/id/ENST00000669179.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000499689.1", "url": "https://www.ensembl.org/id/ENSP00000499689.1" } ] } }, { "isoform_ac": "A6NFX1-1", "url": "", "sequence": { "sequence": "MAAPPAPAAKGSPQPEPHAPEPGPGSAKRGREDSRAGRLSFCTKVCYGIGGVPNQIASSATAFYLQLFLLDIAQIPAAQVSLVLFGGKVSGAAADPVAGFFINRSQRTGSGRLMPWVLGCTPFIALAYFFLWFLPPFTSLRGLWYTTFYCLFQALATFFQVPYTALTMLLTPCPRERDSATAYRMTVEMAGTLMGATVHGLIVSGAHRPHRCEATATPGPVTVSPNAAHLYCIAAAVVVVTYPVCISLLCLGVKERPDPSAPASGPGLSFLAGLSLTTRHPPYLKLVISFLFISAAVQVEQSYLVLFCTHASQLHDHVQGLVLTVLVSAVLSTPLWEWVLQRFGKKTSAFGIFAMVPFAILLAAVPTAPVAYVVAFVSGVSIAVSLLLPWSMLPDVVDDFQLQHRHGPGLETIFYSSYVFFTKLSGACALGISTLSLEFSGYKAGVCKQAEEVVVTLKVLIGAVPTCMILAGLCILMVGSTPKTPSRDASSRLSLRRRTSYSLA", "length": 504, "header": "sp|A6NFX1-1|MFS2B_HUMAN Isoform 1 of Sphingosine-1-phosphate transporter MFSD2B OS=Homo sapiens OX=9606 GN=MFSD2B PE=1 SV=4 CANONICAL=A6NFX1-1" }, "locus": { "chromosome": "2", "start_pos": 24025453, "end_pos": 24010097, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000338315.6", "url": "https://www.ensembl.org/id/ENST00000338315.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000342501.4", "url": "https://www.ensembl.org/id/ENSP00000342501.4" } ] } }, { "isoform_ac": "H7BZN4-1", "url": "", "sequence": { "sequence": "KVLIGAVPTCMILAGLCILMVGSTPKTPSRDASSRLSLRRVLHH", "length": 44, "header": "tr|H7BZN4-1|MFS2B_HUMAN Computationally mapped isoform of Sphingosine-1-phosphate transporter MFSD2B OS=Homo sapiens OX=9606 GN=MFSD2B PE=1 SV=1 CANONICAL=A6NFX1-1" }, "locus": { "chromosome": "2", "start_pos": 24033179, "end_pos": 24024153, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000453731.1", "url": "https://www.ensembl.org/id/ENST00000453731.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000390490.1", "url": "https://www.ensembl.org/id/ENSP00000390490.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "A6NFX1", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=A6NFX1" }, { "id": "28411811", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28411811" } ] } ], "phosphorylation": [], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Purification of the serine palmitoyltransferase complex responsible for sphingoid base synthesis by using affinity peptide chromatography techniques.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Hanada K, Hara T, Nishijima M", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660661", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660661" } ], "reference": [ { "type": "PubMed", "id": "10722674", "url": "https://glygen.org/publication/PubMed/10722674" } ] }, { "title": "Molecular cloning and functional characterization of a novel mammalian sphingosine kinase type 2 isoform.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Liu H, Sugiura M, Nava VE, Edsall LC, Kono K, Poulton S, Milstien S, Kohama T, Spiegel S", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660661", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660661" } ], "reference": [ { "type": "PubMed", "id": "10751414", "url": "https://glygen.org/publication/PubMed/10751414" } ] }, { "title": "Functional characterization of human sphingosine kinase-1.", "journal": "FEBS letters", "date": "2000", "authors": "Nava VE, Lacana E, Poulton S, Liu H, Sugiura M, Kono K, Milstien S, Kohama T, Spiegel S", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660661", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660661" } ], "reference": [ { "type": "PubMed", "id": "10802064", "url": "https://glygen.org/publication/PubMed/10802064" } ] }, { "title": "Human sphingosine kinase: purification, molecular cloning and characterization of the native and recombinant enzymes.", "journal": "The Biochemical journal", "date": "2000", "authors": "Pitson SM, D'andrea RJ, Vandeleur L, Moretti PA, Xia P, Gamble JR, Vadas MA, Wattenberg BW", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660661", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660661" } ], "reference": [ { "type": "PubMed", "id": "10947957", "url": "https://glygen.org/publication/PubMed/10947957" } ] }, { "title": "Identification and characterization of a sphingolipid delta 4-desaturase family.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Ternes P, Franke S, Zahringer U, Sperling P, Heinz E", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660661", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660661" } ], "reference": [ { "type": "PubMed", "id": "11937514", "url": "https://glygen.org/publication/PubMed/11937514" } ] }, { "title": "Molecular machinery for non-vesicular trafficking of ceramide.", "journal": "Nature", "date": "2003", "authors": "Hanada K, Kumagai K, Yasuda S, Miura Y, Kawano M, Fukasawa M, Nishijima M", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660661", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660661" } ], "reference": [ { "type": "PubMed", "id": "14685229", "url": "https://glygen.org/publication/PubMed/14685229" } ] }, { "title": "Identification of a family of animal sphingomyelin synthases.", "journal": "The EMBO journal", "date": "2004", "authors": "Huitema K, van den Dikkenberg J, Brouwers JF, Holthuis JC", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660661", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660661" } ], "reference": [ { "type": "PubMed", "id": "14685263", "url": "https://glygen.org/publication/PubMed/14685263" } ] }, { "title": "Expression cloning of a human cDNA restoring sphingomyelin synthesis and cell growth in sphingomyelin synthase-defective lymphoid cells.", "journal": "The Journal of biological chemistry", "date": "2004", "authors": "Yamaoka S, Miyaji M, Kitano T, Umehara H, Okazaki T", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660661", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660661" } ], "reference": [ { "type": "PubMed", "id": "14976195", "url": "https://glygen.org/publication/PubMed/14976195" } ] }, { "title": "Identification of the human sphingolipid C4-hydroxylase, hDES2, and its up-regulation during keratinocyte differentiation.", "journal": "FEBS letters", "date": "2004", "authors": "Mizutani Y, Kihara A, Igarashi Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660661", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660661" } ], "reference": [ { "type": "PubMed", "id": "15063729", "url": "https://glygen.org/publication/PubMed/15063729" } ] }, { "title": "FVT-1 is a mammalian 3-ketodihydrosphingosine reductase with an active site that faces the cytosolic side of the endoplasmic reticulum membrane.", "journal": "The Journal of biological chemistry", "date": "2004", "authors": "Kihara A, Igarashi Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660661", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660661" } ], "reference": [ { "type": "PubMed", "id": "15328338", "url": "https://glygen.org/publication/PubMed/15328338" } ] }, { "title": "The human FA2H gene encodes a fatty acid 2-hydroxylase.", "journal": "The Journal of biological chemistry", "date": "2004", "authors": "Alderson NL, Rembiesa BM, Walla MD, Bielawska A, Bielawski J, Hama H", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660661", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660661" } ], "reference": [ { "type": "PubMed", "id": "15337768", "url": "https://glygen.org/publication/PubMed/15337768" } ] }, { "title": "LASS5 is a bona fide dihydroceramide synthase that selectively utilizes palmitoyl-CoA as acyl donor.", "journal": "The Journal of biological chemistry", "date": "2005", "authors": "Lahiri S, Futerman AH", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660661", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660661" } ], "reference": [ { "type": "PubMed", "id": "16100120", "url": "https://glygen.org/publication/PubMed/16100120" } ] }, { "title": "SphK1 and SphK2, sphingosine kinase isoenzymes with opposing functions in sphingolipid metabolism.", "journal": "The Journal of biological chemistry", "date": "2005", "authors": "Maceyka M, Sankala H, Hait NC, Le Stunff H, Liu H, Toman R, Collier C, Zhang M, Satin LS, Merrill AH Jr, Milstien S, Spiegel S", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660661", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660661" } ], "reference": [ { "type": "PubMed", "id": "16118219", "url": "https://glygen.org/publication/PubMed/16118219" } ] }, { "title": "Oxysterol-binding protein and vesicle-associated membrane protein-associated protein are required for sterol-dependent activation of the ceramide transport protein.", "journal": "Molecular biology of the cell", "date": "2006", "authors": "Perry RJ, Ridgway ND", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660661", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660661" } ], "reference": [ { "type": "PubMed", "id": "16571669", "url": "https://glygen.org/publication/PubMed/16571669" } ] }, { "title": "When do Lasses (longevity assurance genes) become CerS (ceramide synthases)?: Insights into the regulation of ceramide synthesis.", "journal": "The Journal of biological chemistry", "date": "2006", "authors": "Pewzner-Jung Y, Ben-Dor S, Futerman AH", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660661", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660661" } ], "reference": [ { "type": "PubMed", "id": "16793762", "url": "https://glygen.org/publication/PubMed/16793762" } ] }, { "title": "Efficient trafficking of ceramide from the endoplasmic reticulum to the Golgi apparatus requires a VAMP-associated protein-interacting FFAT motif of CERT.", "journal": "The Journal of biological chemistry", "date": "2006", "authors": "Kawano M, Kumagai K, Nishijima M, Hanada K", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660661", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660661" } ], "reference": [ { "type": "PubMed", "id": "16895911", "url": "https://glygen.org/publication/PubMed/16895911" } ] }, { "title": "Cloning and initial characterization of a new subunit for mammalian serine-palmitoyltransferase.", "journal": "The Journal of biological chemistry", "date": "2006", "authors": "Hornemann T, Richard S, Rutti MF, Wei Y, von Eckardstein A", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660661", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660661" } ], "reference": [ { 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