{ "uniprot_canonical_ac": "O95436-1", "uniprot_ac": "O95436", "uniprot_id": "NPT2B_HUMAN", "mass": { "chemical_mass": 75759.0, "monoisotopic_mass": 75759.0 }, "refseq": { "ac": "NP_001171469", "name": "sodium-dependent phosphate transport protein 2B isoform b", "summary": "The protein encoded by this gene is a pH-sensitive sodium-dependent phosphate transporter. Phosphate uptake is increased at lower pH. Defects in this gene are a cause of pulmonary alveolar microlithiasis. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, May 2010].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001171469" }, "gene_names": [ { "name": "SLC34A2", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O95436", "id": "O95436" }, { "name": "NAPI-3B; NAPI-IIb; NaPi2b; NPTIIb; PULAM", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001171469", "id": "NP_001171469" }, { "name": "SLC34A2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001171469", "id": "NP_001171469" } ], "protein_names": [ { "name": "Sodium-dependent phosphate transport protein 2B", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O95436" }, { "name": "Na(+)-dependent phosphate cotransporter 2B", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95436" }, { "name": "Na(+)/Pi cotransporter 2B", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95436" }, { "name": "NaPi-2b", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95436" }, { "name": "NaPi3b", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95436" }, { "name": "Sodium-phosphate transport protein 2B", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95436" }, { "name": "Sodium/phosphate cotransporter 2B", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95436" }, { "name": "Solute carrier family 34 member 2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95436" }, { "name": "sodium-dependent phosphate transport protein 2B isoform b", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001171469", "id": "NP_001171469" }, { "name": "type II sodium-dependent phosphate transporter 3b; sodium-dependent phosphate transport protein 2B; sodium/phosphate cotransporter 2B; solute carrier family 34 (sodium phosphate), member 2; solute carrier family 34 (type II sodium/phosphate cotransporter), member 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001171469", "id": "NP_001171469" } ], "function": [ { "annotation": "Characterization of SLC34A2 as a Potential Prognostic Marker of Oncological Diseases. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001171469", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001171469" }, { "database": "PubMed", "id": "34944522", "url": "https://glygen.org/publication/PubMed/34944522" } ] }, { "annotation": "Eight novel variants in the SLC34A2 gene in pulmonary alveolar microlithiasis. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001171469", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001171469" }, { "database": "PubMed", "id": "31831582", "url": "https://glygen.org/publication/PubMed/31831582" } ] }, { "annotation": "Impaired phosphate transport in SLC34A2 variants in patients with pulmonary alveolar microlithiasis. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001171469", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001171469" }, { "database": "PubMed", "id": "35443721", "url": "https://glygen.org/publication/PubMed/35443721" } ] }, { "annotation": "Involved in actively transporting phosphate into cells via Na(+) cotransport.", "evidence": [ { "database": "UniProtKB", "id": "O95436", "url": "https://www.uniprot.org/uniprot/O95436#function" }, { "database": "PubMed", "id": "10329428", "url": "https://glygen.org/publication/PubMed/10329428" }, { "database": "UniProtKB", "id": "D6RBC0", "url": "https://www.uniprot.org/uniprot/D6RBC0#function" }, { "database": "UniProtKB", "id": "ARBA00034091", "url": "https://www.uniprot.org/uniprot/ARBA00034091#function" }, { "database": "UniProtKB", "id": "D6RA94", "url": "https://www.uniprot.org/uniprot/D6RA94#function" } ] }, { "annotation": "New insights in the genetic variant spectrum of SLC34A2 in pulmonary alveolar microlithiasis; a systematic review. Review article Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001171469", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001171469" }, { "database": "PubMed", "id": "37259144", "url": "https://glygen.org/publication/PubMed/37259144" } ] }, { "annotation": "SLC34A2 simultaneously promotes papillary thyroid carcinoma growth and invasion through distinct mechanisms.", "evidence": [ { "database": "RefSeq", "id": "NP_001171469", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001171469" }, { "database": "PubMed", "id": "32005974", "url": "https://glygen.org/publication/PubMed/32005974" } ] }, { "annotation": "The protein encoded by this gene is a pH-sensitive sodium-dependent phosphate transporter. Phosphate uptake is increased at lower pH. Defects in this gene are a cause of pulmonary alveolar microlithiasis. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, May 2010].", "evidence": [ { "database": "RefSeq", "id": "NP_001171469", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001171469" } ] } ], "disease": [ { "disease_id": "DOID:12117", "recommended_name": { "id": "DOID:12117", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12117", "name": "pulmonary alveolar microlithiasis", "description": "A lung disease that is characterized the accumulation of tiny fragments of calcium phosphate gradually accumulate in the alveoli of the lungs." }, "synonyms": [ { "id": "MONDO:0009928", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009928", "name": "pulmonary alveolar microlithiasis", "description": "Pulmonary alveolar microlithiasis is a disorder in which tiny fragments (microliths) of calcium phosphate gradually accumulate in the small air sacs (alveoli) of the lungs. These deposits eventually cause widespread damage to the alveoli and surrounding lung tissue (interstitial lung disease). People with this disorder may also develop a persistent cough and difficulty breathing (dyspnea), especially during physical exertion. Chest pain that worsens when coughing, sneezing, or taking deep breaths is another common feature. People with pulmonary alveolar microlithiasismay also develop calcium phosphate deposits in other organs and tissue of the body. Though the course of the disease can be variable,many casesslowly progress to lung fibrosis, respiratory failure, or cor pulmonale. The only effective therapy is lung transplantation. In some cases, pulmonary alveolar microlithiasis is caused by mutations in the SLC34A2 gene and inherited in an autosomal recessive manner." }, { "id": "MONDO:0009928", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009928", "name": "pulmonary alveolar microlithiasis", "description": "" }, { "id": "MIM:265100", "resource": "MIM", "url": "https://www.omim.org/entry/265100", "name": "Pulmonary alveolar microlithiasis", "description": "Pulmonary alveolar microlithiasis" } ], "evidence": [ { "id": "265100", "database": "MIM", "url": "https://www.omim.org/entry/265100" } ] } ], "snv": [ { "evidence": [ { "id": "rs756035307", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756035307" }, { "id": "rs756035307", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756035307" }, { "id": "rs756035307", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs756035307#frequency_tab" }, { "id": "rs756035307", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs756035307" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 135, "end_pos": 135, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SNS->NNS).", "chr_id": "4", "chr_pos": "25666152", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S135", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs748188355", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748188355" }, { "id": "rs748188355", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748188355" }, { "id": "rs748188355", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs748188355#frequency_tab" }, { "id": "rs748188355", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs748188355" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 159, "end_pos": 159, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SSS->NSS).", "chr_id": "4", "chr_pos": "25666224", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S159", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O95436", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O95436" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 161, "end_pos": 161, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (STS->NTS).", "chr_id": "4", "chr_pos": "25666230", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S161", "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": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs750598263", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750598263" }, { "id": "rs750598263", "database": "ExAC", 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"resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs531268967", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs531268967" }, { "id": "rs531268967", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs531268967" }, { "id": "rs531268967", "database": "ExAC", "url": 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], "start_pos": 308, "end_pos": 308, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NKT->SKT).", "chr_id": "4", "chr_pos": "25670829", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N308", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O95436", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O95436" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 310, "end_pos": 310, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "T", "sequence_mut": "A", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-loss (NKT->NKA).", "chr_id": "4", "chr_pos": "25671601", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "T310", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": 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"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, 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"https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "No", "trend": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O95436", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95436" } ], "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 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"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", 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}, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has 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"description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O95436", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95436" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95436" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "No", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "O95436", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95436" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95436" } ], "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, 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"database": "MIM", "categories": [ "Other" ] }, { "id": "604217", "url": "http://www.omim.org/entry/604217", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_O95436", "url": "https://www.nextprot.org/entry/NX_O95436", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "O95436", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O95436", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "GCPKCCR", "url": "https://omabrowser.org/oma/group/GCPKCCR/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "5404387at2759", "url": "http://www.orthodb.org/?query=5404387at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR10010", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10010", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR10010:SF23", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10010:SF23", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF02690", "url": "http://pfam.xfam.org/family/PF02690", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "O95436", "url": "https://pharos.nih.gov/targets/O95436", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_O95436", "url": "http://purl.obolibrary.org/obo/PR_O95436", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-427589", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-427589", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-5619045", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5619045", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-5683826", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5683826", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-5687583", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5687583", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_001171469", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001171469", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "71255", "url": "https://www.rhea-db.org/rhea/71255", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "D6RA94", "url": "https://www.uniprot.org/uniprot/D6RA94", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "D6RA94-1", "url": "https://www.uniprot.org/uniprot/D6RA94-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "D6RBC0", "url": "https://www.uniprot.org/uniprot/D6RBC0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "D6RBC0-1", "url": "https://www.uniprot.org/uniprot/D6RBC0-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O95436", "url": "https://www.uniprot.org/uniprot/O95436", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O95436-1", "url": "https://www.uniprot.org/uniprot/O95436-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O95436-2", "url": "https://www.uniprot.org/uniprot/O95436-2", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MAPWPELGDAQPNPDKYLEGAAGQQPTAPDKSKETNKTDNTEAPVTKIELLPSYSTATLIDEPTEVDDPWNLPTLQDSGIKWSERDTKGKILCFFQGIGRLILLLGFLYFFVCSLDILSSAFQLVGGKMAGQFFSNSSIMSNPLLGLVIGVLVTVLVQSSSTSTSIVVSMVSSSLLTVRAAIPIIMGANIGTSITNTIVALMQVGDRSEFRRAFAGATVHDFFNWLSVLVLLPVEVATHYLEIITQLIVESFHFKNGEDAPDLLKVITKPFTKLIVQLDKKVISQIAMNDEKAKNKSLVKIWCKTFTNKTQINVTVPSTANCTSPSLCWTDGIQNWTMKNVTYKENIAKCQHIFVNFHLPDLAVGTILLILSLLVLCGCLIMIVKILGSVLKGQVATVIKKTINTDFPFPFAWLTGYLAILVGAGMTFIVQSSSVFTSALTPLIGIGVITIERAYPLTLGSNIGTTTTAILAALASPGNALRSSLQIALCHFFFNISGILLWYPIPFTRLPIRMAKGLGNISAKYRWFAVFYLIIFFFLIPLTVFGLSLAGWRVLVGVGVPVVFIIILVLCLRLLQSRCPRVLPKKLQNWNFLPLWMRSLKPWDAVVSKFTGCFQMRCCCCCRVCCRACCLLCDCPKCCRCSKCCEDLEEAQEGQDVPVKAPETFDNITISREAQGEVPASDSKTECTAL", "length": 690, "header": "sp|O95436-1|NPT2B_HUMAN Isoform 1 of Sodium-dependent phosphate transport protein 2B OS=Homo sapiens OX=9606 GN=SLC34A2 PE=1 SV=3 CANONICAL=O95436-1" }, "isoforms": [ { "isoform_ac": "D6RA94-1", "url": "", "sequence": { "sequence": "MAPWPELGDAQPNPDKYLEGAAGQQPTAPDKSKETNKNNTEAPVTKIELLPSYSTATLIDEPTEVDDPWNLPTLQDSGIKWSERDTKGKILCFFQGIGRLILLLGFLYFFVCSLDILSSAFQLVGGKMAGQFFSNSSIMSNPLLGLVIGVLVTVLVQSSSTST", "length": 163, "header": "tr|D6RA94-1|D6RA94_HUMAN Computationally mapped isoform of Sodium-dependent phosphate transport protein 2B OS=Homo sapiens OX=9606 GN=SLC34A2 PE=1 SV=1 CANONICAL=O95436-1" }, "locus": { "chromosome": "4", "start_pos": 25666240, "end_pos": 25662501, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000513204.5", "url": "https://www.ensembl.org/id/ENST00000513204.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000423038.1", "url": "https://www.ensembl.org/id/ENSP00000423038.1" } ] } }, { "isoform_ac": "D6RBC0-1", "url": "", "sequence": { "sequence": "MAPWPELGDAQPNPDKYLEGAAGQQPTAPDKSKETNKTDNTEAPVTKIELLPSYSTATLIDEPTEVDDPWNLPTLQDSGIKWSERDTKGKILCFFQGIGRLILLLGFLYFFVCSLDILSSAFQLVGGKMAGQFFSNSSIMSNPLLGLVIGVLVTVLVQSSS", "length": 161, "header": "tr|D6RBC0-1|D6RBC0_HUMAN Computationally mapped isoform of Sodium-dependent phosphate transport protein 2B OS=Homo sapiens OX=9606 GN=SLC34A2 PE=1 SV=1 CANONICAL=O95436-1" }, "locus": { "chromosome": "4", "start_pos": 25666231, "end_pos": 25662501, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000507530.1", "url": "https://www.ensembl.org/id/ENST00000507530.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000424266.1", "url": "https://www.ensembl.org/id/ENSP00000424266.1" } ] } }, { "isoform_ac": "O95436-1", "url": "", "sequence": { "sequence": "MAPWPELGDAQPNPDKYLEGAAGQQPTAPDKSKETNKTDNTEAPVTKIELLPSYSTATLIDEPTEVDDPWNLPTLQDSGIKWSERDTKGKILCFFQGIGRLILLLGFLYFFVCSLDILSSAFQLVGGKMAGQFFSNSSIMSNPLLGLVIGVLVTVLVQSSSTSTSIVVSMVSSSLLTVRAAIPIIMGANIGTSITNTIVALMQVGDRSEFRRAFAGATVHDFFNWLSVLVLLPVEVATHYLEIITQLIVESFHFKNGEDAPDLLKVITKPFTKLIVQLDKKVISQIAMNDEKAKNKSLVKIWCKTFTNKTQINVTVPSTANCTSPSLCWTDGIQNWTMKNVTYKENIAKCQHIFVNFHLPDLAVGTILLILSLLVLCGCLIMIVKILGSVLKGQVATVIKKTINTDFPFPFAWLTGYLAILVGAGMTFIVQSSSVFTSALTPLIGIGVITIERAYPLTLGSNIGTTTTAILAALASPGNALRSSLQIALCHFFFNISGILLWYPIPFTRLPIRMAKGLGNISAKYRWFAVFYLIIFFFLIPLTVFGLSLAGWRVLVGVGVPVVFIIILVLCLRLLQSRCPRVLPKKLQNWNFLPLWMRSLKPWDAVVSKFTGCFQMRCCCCCRVCCRACCLLCDCPKCCRCSKCCEDLEEAQEGQDVPVKAPETFDNITISREAQGEVPASDSKTECTAL", "length": 690, "header": "sp|O95436-1|NPT2B_HUMAN Isoform 1 of Sodium-dependent phosphate transport protein 2B OS=Homo sapiens OX=9606 GN=SLC34A2 PE=1 SV=3 CANONICAL=O95436-1" }, "locus": { "chromosome": "4", "start_pos": 25676746, "end_pos": 25662501, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000382051.8", "url": "https://www.ensembl.org/id/ENST00000382051.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000371483.3", "url": "https://www.ensembl.org/id/ENSP00000371483.3" } ] } }, { "isoform_ac": "O95436-2", "url": "", "sequence": { "sequence": "MAPWPELGDAQPNPDKYLEGAAGQQPTAPDKSKETNKNNTEAPVTKIELLPSYSTATLIDEPTEVDDPWNLPTLQDSGIKWSERDTKGKILCFFQGIGRLILLLGFLYFFVCSLDILSSAFQLVGGKMAGQFFSNSSIMSNPLLGLVIGVLVTVLVQSSSTSTSIVVSMVSSSLLTVRAAIPIIMGANIGTSITNTIVALMQVGDRSEFRRAFAGATVHDFFNWLSVLVLLPVEVATHYLEIITQLIVESFHFKNGEDAPDLLKVITKPFTKLIVQLDKKVISQIAMNDEKAKNKSLVKIWCKTFTNKTQINVTVPSTANCTSPSLCWTDGIQNWTMKNVTYKENIAKCQHIFVNFHLPDLAVGTILLILSLLVLCGCLIMIVKILGSVLKGQVATVIKKTINTDFPFPFAWLTGYLAILVGAGMTFIVQSSSVFTSALTPLIGIGVITIERAYPLTLGSNIGTTTTAILAALASPGNALRSSLQIALCHFFFNISGILLWYPIPFTRLPIRMAKGLGNISAKYRWFAVFYLIIFFFLIPLTVFGLSLAGWRVLVGVGVPVVFIIILVLCLRLLQSRCPRVLPKKLQNWNFLPLWMRSLKPWDAVVSKFTGCFQMRCCCCCRVCCRACCLLCDCPKCCRCSKCCEDLEEAQEGQDVPVKAPETFDNITISREAQGEVPASDSKTECTAL", "length": 689, "header": "sp|O95436-2|NPT2B_HUMAN Isoform 2 of Sodium-dependent phosphate transport protein 2B OS=Homo sapiens OX=9606 GN=SLC34A2 PE=1 SV=3 CANONICAL=O95436-1" }, "locus": { "chromosome": "4", "start_pos": 25676746, "end_pos": 25662501, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000503434.5", "url": "https://www.ensembl.org/id/ENST00000503434.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000423021.1", "url": "https://www.ensembl.org/id/ENSP00000423021.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 295, "start_aa": "Asn", "end_pos": 295, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn295", "evidence": [ { "id": "O95436", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O95436#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 308, "start_aa": "Asn", "end_pos": 308, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn308", "evidence": [ { "id": "O95436", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O95436#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 313, "start_aa": "Asn", "end_pos": 313, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn313", "evidence": [ { "id": "O95436", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O95436#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 321, "start_aa": "Asn", "end_pos": 321, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn321", "evidence": [ { "id": "O95436", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O95436#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 340, "start_aa": "Asn", "end_pos": 340, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn340", "evidence": [ { "id": "O95436", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O95436#ptm_processing" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "O95436", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O95436" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" } ] } ], "phosphorylation": [], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_predicted", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Stoichiometry and Na+ binding cooperativity of rat and flounder renal type II Na+-Pi cotransporters.", "journal": "The American journal of physiology", "date": "1999", "authors": "Forster IC, Loo DD, Eskandari S", "evidence": [ { "database": "Reactome", "id": "R-HSA-427589", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-427589" } ], "reference": [ { "type": "PubMed", "id": "10198426", "url": "https://glygen.org/publication/PubMed/10198426" } ] }, { "title": "Cloning and functional characterization of a sodium-dependent phosphate transporter expressed in human lung and small intestine.", "journal": "Biochemical and biophysical research communications", "date": "1999", "authors": "Feild JA, Zhang L, Brun KA, Brooks DP, Edwards RM", "evidence": [ { "database": "UniProtKB", "id": "O95436", "url": "https://www.uniprot.org/uniprot/O95436" }, { "database": "Reactome", "id": "R-HSA-427589", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-427589" } ], "reference": [ { "type": "PubMed", "id": "10329428", "url": "https://glygen.org/publication/PubMed/10329428" } ] }, { "title": "Crystal structure of the trimeric alpha-helical coiled-coil and the three lectin domains of human lung surfactant protein D.", "journal": "Structure (London, England : 1993)", "date": "1999", "authors": "Hakansson K, Lim NK, Hoppe HJ, Reid KB", "evidence": [ { "database": "Reactome", "id": "R-HSA-5683826", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5683826" } ], "reference": [ { "type": "PubMed", "id": "10368295", "url": "https://glygen.org/publication/PubMed/10368295" } ] }, { "title": "Cloning of gp-340, a putative opsonin receptor for lung surfactant protein D.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1999", "authors": "Holmskov U, Mollenhauer J, Madsen J, Vitved L, Gronlund J, Tornoe I, Kliem A, Reid KB, Poustka A, Skjodt K", "evidence": [ { "database": "Reactome", "id": "R-HSA-5683826", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5683826" } ], "reference": [ { "type": "PubMed", "id": "10485905", "url": "https://glygen.org/publication/PubMed/10485905" } ] }, { "title": "Characterization of human A(2B) adenosine receptors: radioligand binding, western blotting, and coupling to G(q) in human embryonic kidney 293 cells and HMC-1 mast cells.", "journal": "Molecular pharmacology", "date": "1999", "authors": "Linden J, Thai T, Figler H, Jin X, Robeva AS", "evidence": [ { "database": "Reactome", "id": "R-HSA-5683826", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5683826" } ], "reference": [ { "type": "PubMed", "id": "10496952", "url": "https://glygen.org/publication/PubMed/10496952" } ] }, { "title": "Napsin A, a member of the aspartic protease family, is abundantly expressed in normal lung and kidney tissue and is expressed in lung adenocarcinomas.", "journal": "FEBS letters", "date": "1999", "authors": "Chuman Y, Bergman A, Ueno T, Saito S, Sakaguchi K, Alaiya AA, Franzen B, Bergman T, Arnott D, Auer G, Appella E, Jornvall H, Linder S", "evidence": [ { "database": "Reactome", "id": "R-HSA-5683826", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5683826" } ], "reference": [ { "type": "PubMed", "id": "10580105", "url": "https://glygen.org/publication/PubMed/10580105" } ] }, { "title": "Molecular cloning, functional characterization, tissue distribution, and chromosomal localization of a human, small intestinal sodium-phosphate (Na+-Pi) transporter (SLC34A2).", "journal": "Genomics", "date": "1999", "authors": "Xu H, Bai L, Collins J F, Ghishan F K", "evidence": [ { "database": "UniProtKB", "id": "O95436", "url": "https://www.uniprot.org/uniprot/O95436" } ], "reference": [ { "type": "PubMed", "id": "10610722", "url": "https://glygen.org/publication/PubMed/10610722" } ] }, { "title": "GATA-6 activates transcription of surfactant protein A.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Bruno MD, Korfhagen TR, Liu C, Morrisey EE, Whitsett JA", "evidence": [ { "database": "Reactome", "id": "R-HSA-5683826", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5683826" } ], "reference": [ { "type": "PubMed", "id": "10625644", "url": "https://glygen.org/publication/PubMed/10625644" } ] }, { "title": "Regulation of the human sodium-phosphate cotransporter NaPi-IIb gene promoter by epidermal growth factor.", "journal": "Am. J. Physiol.", "date": "2001", "authors": "Xu H, Collins J F, Bai L, Kiela P R, Ghishan F K", "evidence": [ { "database": "UniProtKB", "id": "O95436", "url": "https://www.uniprot.org/uniprot/O95436" } ], "reference": [ { "type": "PubMed", "id": "11171583", "url": "https://glygen.org/publication/PubMed/11171583" } ] }, { "title": "Secretion of surfactant protein C, an integral membrane protein, requires the N-terminal propeptide.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Conkright JJ, Bridges JP, Na CL, Voorhout WF, Trapnell B, Glasser SW, Weaver TE", "evidence": [ { "database": "Reactome", "id": "R-HSA-5683826", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5683826" } ], "reference": [ { "type": "PubMed", "id": "11278984", "url": "https://glygen.org/publication/PubMed/11278984" } ] }, { "title": "Human salivary agglutinin binds to lung surfactant protein-D and is identical with scavenger receptor protein gp-340.", "journal": "The Biochemical journal", "date": "2001", "authors": "Ligtenberg TJ, Bikker FJ, Groenink J, Tornoe I, Leth-Larsen R, Veerman EC, Nieuw Amerongen AV, Holmskov U", "evidence": [ { "database": "Reactome", "id": "R-HSA-5683826", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5683826" } ], "reference": [ { "type": "PubMed", "id": "11563989", "url": "https://glygen.org/publication/PubMed/11563989" } ] }, { "title": "Growth-related renal type II Na/Pi cotransporter.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Segawa H, Kaneko I, Takahashi A, Kuwahata M, Ito M, Ohkido I, Tatsumi S, Miyamoto K", "evidence": [ { "database": "Reactome", "id": "R-HSA-427589", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-427589" } ], "reference": [ { "type": "PubMed", "id": "11880379", "url": "https://glygen.org/publication/PubMed/11880379" } ] }, { "title": "Rare mutations of the DMBT1 gene in human astrocytic gliomas.", "journal": "Oncogene", "date": "2002", "authors": "Mueller W, Mollenhauer J, Stockhammer F, Poustka A, von Deimling A", "evidence": [ { "database": "Reactome", "id": "R-HSA-5683826", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5683826" } ], "reference": [ { "type": "PubMed", "id": "12185598", "url": "https://glygen.org/publication/PubMed/12185598" } ] }, { "title": "Nephrolithiasis and osteoporosis associated with hypophosphatemia caused by mutations in the type 2a sodium-phosphate cotransporter.", "journal": "The New England journal of medicine", "date": "2002", "authors": "Prie D, Huart V, Bakouh N, Planelles G, Dellis O, Gerard B, Hulin P, Benque-Blanchet F, Silve C, Grandchamp B, Friedlander G", "evidence": [ { "database": "Reactome", "id": "R-HSA-427589", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-427589" } ], "reference": [ { "type": "PubMed", "id": "12324554", "url": "https://glygen.org/publication/PubMed/12324554" } ] }, { "title": "Forging the link between structure and function of electrogenic 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McCormack FX, Campo I, Mariani F, Escribano-Montaner A, Holm AM, Martinez-Colls MDM, Pintos-Morell G, Taille C, Crestani B, Hilberg O, Hvarregaard Christensen J, Simonsen U", "evidence": [ { "database": "RefSeq", "id": "NP_001171469", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001171469" } ], "reference": [ { "type": "PubMed", "id": "31831582", "url": "https://glygen.org/publication/PubMed/31831582" } ] }, { "title": "SLC34A2 simultaneously promotes papillary thyroid carcinoma growth and invasion through distinct mechanisms.", "journal": "Oncogene", "date": "2020", "authors": "He J, Zhou M, Li X, Gu S, Cao Y, Xing T, Chen W, Chu C, Gu F, Zhou J, Jin Y, Ma J, Ma D, Zou Q", "evidence": [ { "database": "RefSeq", "id": "NP_001171469", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001171469" } ], "reference": [ { "type": "PubMed", "id": "32005974", "url": "https://glygen.org/publication/PubMed/32005974" } ] }, { "title": "Hydrophobic 3.7 kDa surfactant polypeptide: structural 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