{ "uniprot_canonical_ac": "O75185-1", "uniprot_ac": "O75185", "uniprot_id": "AT2C2_HUMAN", "mass": { "chemical_mass": 103169.0, "monoisotopic_mass": 103169.0 }, "refseq": { "ac": "NP_001273456", "name": "calcium-transporting ATPase type 2C member 2 isoform 1", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273456" }, "gene_names": [ { "name": "ATP2C2", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O75185", "id": "O75185" }, { "name": "ATP2C2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273456", "id": "NP_001273456" }, { "name": "KIAA0703", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O75185", "id": "O75185" }, { "name": "SPCA2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273456", "id": "NP_001273456" }, { "name": "SPCA2", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O75185", "id": "O75185" } ], "protein_names": [ { "name": "Calcium-transporting ATPase type 2C member 2", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O75185" }, { "name": "7.2.2.10", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75185" }, { "name": "ATPase 2C2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75185" }, { "name": "Ca(2+)/Mn(2+)-ATPase 2C2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75185" }, { "name": "SPCA2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75185" }, { "name": "Secretory pathway Ca(2+)-transporting ATPase type 2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75185" }, { "name": "calcium-transporting ATPase type 2C member 2 isoform 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273456", "id": "NP_001273456" }, { "name": "calcium-transporting ATPase type 2C member 2; secretory pathway calcium ATPase 2; ATPase 2C2; secretory pathway Ca(2+)-ATPase 2; ATPase, Ca++ transporting, type 2C, member 2; Ca(2+)/Mn(2+)-ATPase 2C2; secretory pathway Ca(2+)-transporting ATPase type 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273456", "id": "NP_001273456" } ], "function": [ { "annotation": "A rare missense variant in the ATP2C2 gene is associated with language impairment and related measures.", "evidence": [ { "database": "RefSeq", "id": "NP_001273456", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273456" }, { "database": "PubMed", "id": "33864365", "url": "https://glygen.org/publication/PubMed/33864365" } ] }, { "annotation": "ATP-driven pump that supplies the Golgi apparatus with Ca(2+) and Mn(2+) ions, both essential cofactors for processing and trafficking of newly synthesized proteins in the secretory pathway (PubMed:15831496, PubMed:16332677, PubMed:30923126, PubMed:15677451). Within a catalytic cycle, acquires Ca(2+) or Mn(2+) ions on the cytoplasmic side of the membrane and delivers them to the lumenal side. The transfer of ions across the membrane is coupled to ATP hydrolysis and is associated with a transient phosphorylation that shifts the pump conformation from inward-facing to outward-facing state (PubMed:15831496, PubMed:16332677). Induces Ca(2+) influx independently of its ATP-driven pump function. At the basolateral membrane of mammary epithelial cells, interacts with Ca(2+) channel ORAI1 and mediates Ca(2+) entry independently of the Ca(2+) content of endoplasmic reticulum or Golgi stores. May facilitate transepithelial transport of large quantities of Ca(2+) for milk secretion via activation of Ca(2+) influx channels at the plasma membrane and active Ca(2+) transport at the Golgi apparatus (PubMed:23840669, PubMed:20887894).", "evidence": [ { "database": "UniProtKB", "id": "O75185", "url": "https://www.uniprot.org/uniprot/O75185#function" }, { "database": "PubMed", "id": "20887894", "url": "https://glygen.org/publication/PubMed/20887894" }, { "database": "PubMed", "id": "23840669", "url": "https://glygen.org/publication/PubMed/23840669" }, { "database": "PubMed", "id": "30923126", "url": "https://glygen.org/publication/PubMed/30923126" }, { "database": "PubMed", "id": "16332677", "url": "https://glygen.org/publication/PubMed/16332677" }, { "database": "PubMed", "id": "15831496", "url": "https://glygen.org/publication/PubMed/15831496" }, { "database": "PubMed", "id": "15677451", "url": "https://glygen.org/publication/PubMed/15677451" } ] }, { "annotation": "ATP2C2 Has Potential to Define Tumor Microenvironment in Breast Cancer. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001273456", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273456" }, { "database": "PubMed", "id": "33936088", "url": "https://glygen.org/publication/PubMed/33936088" } ] }, { "annotation": "Analysis of SPCA1 and SPCA2 isoenzymes by steady-state and transient kinetic analyses", "evidence": [ { "database": "RefSeq", "id": "NP_001273456", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273456" }, { "database": "PubMed", "id": "16332677", "url": "https://glygen.org/publication/PubMed/16332677" } ] }, { "annotation": "HSPCA2 has the ability to transport Ca(2+) and Mn(2+); both its transport and Ca(2+)- and Mn(2+)-dependent phosphoprotein intermediate formation functions are insensitive to thapsigargin inhibition", "evidence": [ { "database": "RefSeq", "id": "NP_001273456", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273456" }, { "database": "PubMed", "id": "15831496", "url": "https://glygen.org/publication/PubMed/15831496" } ] }, { "annotation": "Low SPCA2 expression is associated with Epithelial-Mesenchymal Transition in Breast Cancer.", "evidence": [ { "database": "RefSeq", "id": "NP_001273456", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273456" }, { "database": "PubMed", "id": "31076498", "url": "https://glygen.org/publication/PubMed/31076498" } ] }, { "annotation": "SPCA2 may have a more specialized role in mammalian cells, possibly in cellular detoxification of Mn2+ ions.", "evidence": [ { "database": "RefSeq", "id": "NP_001273456", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273456" }, { "database": "PubMed", "id": "15677451", "url": "https://glygen.org/publication/PubMed/15677451" } ] }, { "annotation": "SPCA2C influences Ca(2+) homeostasis through multiple mechanisms, some of which are independent of Orai1, suggesting novel and possibly cell-specific Ca(2+) regulation.", "evidence": [ { "database": "RefSeq", "id": "NP_001273456", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273456" }, { "database": "PubMed", "id": "31676354", "url": "https://glygen.org/publication/PubMed/31676354" } ] }, { "annotation": "Secretory pathway Ca(2+)-ATPase SPCA2 regulates mitochondrial respiration and DNA damage response through store-independent calcium entry.", "evidence": [ { "database": "RefSeq", "id": "NP_001273456", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273456" }, { "database": "PubMed", "id": "35063802", "url": "https://glygen.org/publication/PubMed/35063802" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "O75185", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O75185" } ], "glycoeffect": [], "start_pos": 445, "end_pos": 445, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "V", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "16", "chr_pos": "84442532", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "A445", "disease": [ { "disease_id": "DOID:1793", "recommended_name": { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas." }, "synonyms": [ { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "Ca body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "Ca head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "Ca tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "pancreas neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "pancreatic neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "pancreatic tumor", "description": "" } ] }, { "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": "" }, { "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": "" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "mutagenesis": [ { "start_pos": 379, "end_pos": 379, "sequence_org": "D", "sequence_mut": "N", "comment": "Loss of calcium-dependent ATPase activity. Has no effect on trafficking to the plasma membrane.", "evidence": [ { "database": "UniProtKB", "id": "O75185", "url": "https://www.uniprot.org/uniprot/O75185" }, { "database": "PubMed", "id": "20887894", "url": "https://glygen.org/publication/PubMed/20887894" } ] }, { "start_pos": 772, "end_pos": 772, "sequence_org": "D", "sequence_mut": "A", "comment": "Loss of calcium-dependent ATPase activity.", "evidence": [ { "database": "UniProtKB", "id": "O75185", "url": "https://www.uniprot.org/uniprot/O75185" }, { "database": "PubMed", "id": "20887894", "url": "https://glygen.org/publication/PubMed/20887894" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "62.58", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000064270", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000064270" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "68.01", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000064270", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000064270" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "66.29", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000064270", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000064270" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "49.96", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000064270", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000064270" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "61.9", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000064270", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000064270" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "97.4", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000064270", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000064270" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "76.63", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000064270", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000064270" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "72.82", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000064270", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000064270" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "85", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000064270", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000064270" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "52.97", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000064270", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000064270" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "47.52", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000064270", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000064270" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "92.86", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000064270", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000064270" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "70.81", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000064270", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000064270" } ] } ], "expression_disease": [ { "significant": "No", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O75185", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75185" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", 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"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", 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"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": "O75185", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75185" } ], "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", 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"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": "" }, 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"id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine 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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 developed 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cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "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": "down", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O75185", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75185" } ], "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", "url": "http://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "O75185", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75185" } ], "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": [ { 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"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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"name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O75185", "url": "https://www.uniprot.org/uniprot/O75185" } ], "common_name": "Human" } ], "gene": [ { "name": "ATP2C2", "url": "https://www.uniprot.org/uniprot/O75185", "locus": { "chromosome": "16", "start_pos": 84464187, "end_pos": 84368527, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000064270", "url": "https://www.ensembl.org/id/ENSG00000064270" } ] } } ], "crossref": [ { "id": "ENSG00000064270", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000064270", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "O75185", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O75185", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "7.2.2.10", "url": "https://www.brenda-enzymes.org/enzyme.php?ecno=7.2.2.10&UniProtAcc=O75185", "database": "BRENDA", "categories": [ "Enzyme and Pathway" ] }, { "id": "cd02085", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd02085", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "ATP2C2", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP2C2", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "9914", "url": "https://www.ncbi.nlm.nih.gov/gene/9914", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "29103", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=29103", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "O75185", "url": "https://www.ebi.ac.uk/intact/interactors/id:O75185*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR001757", "url": "https://www.ebi.ac.uk/interpro/entry/IPR001757", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR004014", "url": "https://www.ebi.ac.uk/interpro/entry/IPR004014", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR006068", "url": "https://www.ebi.ac.uk/interpro/entry/IPR006068", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR006413", "url": "https://www.ebi.ac.uk/interpro/entry/IPR006413", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR008250", "url": "https://www.ebi.ac.uk/interpro/entry/IPR008250", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR018303", "url": "https://www.ebi.ac.uk/interpro/entry/IPR018303", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR023214", "url": "https://www.ebi.ac.uk/interpro/entry/IPR023214", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR023298", "url": "https://www.ebi.ac.uk/interpro/entry/IPR023298", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR023299", "url": "https://www.ebi.ac.uk/interpro/entry/IPR023299", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR036412", "url": "https://www.ebi.ac.uk/interpro/entry/IPR036412", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR044492", "url": "https://www.ebi.ac.uk/interpro/entry/IPR044492", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:9914", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:9914", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "613082", "url": "http://www.omim.org/entry/613082", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_O75185", "url": "https://www.nextprot.org/entry/NX_O75185", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "IGWVQGK", "url": "https://omabrowser.org/oma/group/IGWVQGK/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "203629at2759", "url": "http://www.orthodb.org/?query=203629at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR42861", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR42861", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR42861:SF23", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR42861:SF23", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF00122", "url": "http://pfam.xfam.org/family/PF00122", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF00689", "url": "http://pfam.xfam.org/family/PF00689", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF00690", "url": "http://pfam.xfam.org/family/PF00690", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF00702", "url": "http://pfam.xfam.org/family/PF00702", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF13246", "url": "http://pfam.xfam.org/family/PF13246", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "O75185", "url": "https://pharos.nih.gov/targets/O75185", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_O75185", "url": "http://purl.obolibrary.org/obo/PR_O75185", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-936837", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-936837", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_001273456", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273456", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "18105", "url": "https://www.rhea-db.org/rhea/18105", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "66820", "url": "https://www.rhea-db.org/rhea/66820", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "H3BS90", "url": "https://www.uniprot.org/uniprot/H3BS90", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BS90-1", "url": "https://www.uniprot.org/uniprot/H3BS90-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75185", "url": "https://www.uniprot.org/uniprot/O75185", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75185-1", "url": "https://www.uniprot.org/uniprot/O75185-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75185-2", "url": "https://www.uniprot.org/uniprot/O75185-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75185-3", "url": "https://www.uniprot.org/uniprot/O75185-3", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MVEGRVSEFLKKLGFSGGGRQYQALEKDEEEALIDEQSELKAIEKEKKVTALPPKEACKCQKEDLARAFCVDLHTGLSEFSVTQRRLAHGWNEFVADNSEPVWKKYLDQFKNPLILLLLGSALVSVLTKEYEDAVSIATAVLVVVTVAFIQEYRSEKSLEELTKLVPPECNCLREGKLQHLLARELVPGDVVSLSIGDRIPADIRLTEVTDLLVDESSFTGEAEPCSKTDSPLTGGGDLTTLSNIVFMGTLVQYGRGQGVVIGTGESSQFGEVFKMMQAEETPKTPLQKSMDRLGKQLTLFSFGIIGLIMLIGWSQGKQLLSMFTIGVSLAVAAIPEGLPIVVMVTLVLGVLRMAKKRVIVKKLPIVETLGCCSVLCSDKTGTLTANEMTVTQLVTSDGLRAEVSGVGYDGQGTVCLLPSKEVIKEFSNVSVGKLVEAGCVANNAVIRKNAVMGQPTEGALMALAMKMDLSDIKNSYIRKKEIPFSSEQKWMAVKCSLKTEDQEDIYFMKGALEEVIRYCTMYNNGGIPLPLTPQQRSFCLQEEKRMGSLGLRVLALASGPELGRLTFLGLVGIIDPPRVGVKEAVQVLSESGVSVKMITGDALETALAIGRNIGLCNGKLQAMSGEEVDSVEKGELADRVGKVSVFFRTSPKHKLKIIKALQESGAIVAMTGDGVNDAVALKSADIGIAMGQTGTDVSKEAANMILVDDDFSAIMNAVEEGKGIFYNIKNFVRFQLSTSISALSLITLSTVFNLPSPLNAMQILWINIIMDGPPAQSLGVEPVDKDAFRQPPRSVRDTILSRALILKILMSAAIIISGTLFIFWKEMPEDRASTPRTTTMTFTCFVFFDLFNALTCRSQTKLIFEIGFLRNHMFLYSVLGSILGQLAVIYIPPLQRVFQTENLGALDLLFLTGLASSVFILSELLKLCEKYCCSPKRVQMHPEDV", "length": 946, "header": "sp|O75185-1|AT2C2_HUMAN Isoform 1 of Calcium-transporting ATPase type 2C member 2 OS=Homo sapiens OX=9606 GN=ATP2C2 PE=1 SV=3 CANONICAL=O75185-1" }, "isoforms": [ { "isoform_ac": "H3BS90-1", "url": "", "sequence": { "sequence": "XVWKKYLDQFKNPLILLLLGSALVSVLTKEYEDAVSIATAVLVVVTVAFIQHI", "length": 53, "header": "tr|H3BS90-1|AT2C2_HUMAN Computationally mapped isoform of Calcium-transporting ATPase type 2C member 2 OS=Homo sapiens OX=9606 GN=ATP2C2 PE=1 SV=1 CANONICAL=O75185-1" }, "locus": { "chromosome": "16", "start_pos": 84410687, "end_pos": 84405220, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000569207.5", "url": "https://www.ensembl.org/id/ENST00000569207.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000456595.1", "url": "https://www.ensembl.org/id/ENSP00000456595.1" } ] } }, { "isoform_ac": "O75185-1", "url": "", "sequence": { "sequence": "MVEGRVSEFLKKLGFSGGGRQYQALEKDEEEALIDEQSELKAIEKEKKVTALPPKEACKCQKEDLARAFCVDLHTGLSEFSVTQRRLAHGWNEFVADNSEPVWKKYLDQFKNPLILLLLGSALVSVLTKEYEDAVSIATAVLVVVTVAFIQEYRSEKSLEELTKLVPPECNCLREGKLQHLLARELVPGDVVSLSIGDRIPADIRLTEVTDLLVDESSFTGEAEPCSKTDSPLTGGGDLTTLSNIVFMGTLVQYGRGQGVVIGTGESSQFGEVFKMMQAEETPKTPLQKSMDRLGKQLTLFSFGIIGLIMLIGWSQGKQLLSMFTIGVSLAVAAIPEGLPIVVMVTLVLGVLRMAKKRVIVKKLPIVETLGCCSVLCSDKTGTLTANEMTVTQLVTSDGLRAEVSGVGYDGQGTVCLLPSKEVIKEFSNVSVGKLVEAGCVANNAVIRKNAVMGQPTEGALMALAMKMDLSDIKNSYIRKKEIPFSSEQKWMAVKCSLKTEDQEDIYFMKGALEEVIRYCTMYNNGGIPLPLTPQQRSFCLQEEKRMGSLGLRVLALASGPELGRLTFLGLVGIIDPPRVGVKEAVQVLSESGVSVKMITGDALETALAIGRNIGLCNGKLQAMSGEEVDSVEKGELADRVGKVSVFFRTSPKHKLKIIKALQESGAIVAMTGDGVNDAVALKSADIGIAMGQTGTDVSKEAANMILVDDDFSAIMNAVEEGKGIFYNIKNFVRFQLSTSISALSLITLSTVFNLPSPLNAMQILWINIIMDGPPAQSLGVEPVDKDAFRQPPRSVRDTILSRALILKILMSAAIIISGTLFIFWKEMPEDRASTPRTTTMTFTCFVFFDLFNALTCRSQTKLIFEIGFLRNHMFLYSVLGSILGQLAVIYIPPLQRVFQTENLGALDLLFLTGLASSVFILSELLKLCEKYCCSPKRVQMHPEDV", "length": 946, "header": "sp|O75185-1|AT2C2_HUMAN Isoform 1 of Calcium-transporting ATPase type 2C member 2 OS=Homo sapiens OX=9606 GN=ATP2C2 PE=1 SV=3 CANONICAL=O75185-1" }, "locus": { "chromosome": "16", "start_pos": 84463729, "end_pos": 84368616, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000262429.9", "url": "https://www.ensembl.org/id/ENST00000262429.9" }, { "database": "Ensembl Peptide", "id": "ENSP00000262429.4", "url": "https://www.ensembl.org/id/ENSP00000262429.4" } ] } }, { "isoform_ac": "O75185-2", "url": "", "sequence": { "sequence": "MLHFHLLKFKTRVVFSAVIIMVTGLCLFLLSLPHLHGVFEQVPAPWWTSLCPWPIMEAAAFQSGSLYPVASFLAAPMSELVPDLSFQVDLHTGLSEFSVTQRRLAHGWNEFVADNSEPVWKKYLDQFKNPLILLLLGSALVSVLTKEYEDAVSIATAVLVVVTVAFIQEYRSEKSLEELTKLVPPECNCLREGKLQHLLARELVPGDVVSLSIGDRIPADIRLTEVTDLLVDESSFTGEAEPCSKTDSPLTGGGDLTTLSNIVFMGTLVQYGRGQGVVIGTGESSQFGEVFKMMQAEETPKTPLQKSMDRLGKQLTLFSFGIIGLIMLIGWSQGKQLLSMFTIGVSLAVAAIPEGLPIVVMVTLVLGVLRMAKKRVIVKKLPIVETLGCCSVLCSDKTGTLTANEMTVTQLVTSDGLRAEVSGVGYDGQGTVCLLPSKEVIKEFSNVSVGKLVEAGCVANNAVIRKNAVMGQPTEGALMALAMKMDLSDIKNSYIRKKEIPFSSEQKWMAVKCSLKTEDQEDIYFMKGALEEVIRYCTMYNNGGIPLPLTPQQRSFCLQEEKRMGSLGLRVLALASGPELGRLTFLGLVGIIDPPRVGVKEAVQVLSESGVSVKMITGDALETALAIGRNIGLCNGKLQAMSGEEVDSVEKGELADRVGKVSVFFRTSPKHKLKIIKALQESGAIVAMTGDGVNDAVALKSADIGIAMGQTGTDVSKEAANMILVDDDFSAIMNAVEEGKGIFYNIKNFVRFQLSTSISALSLITLSTVFNLPSPLNAMQILWINIIMDGPPAQSLGVEPVDKDAFRQPPRSVRDTILSRALILKILMSAAIIISGTLFIFWKEMPEDRASTPRTTTMTFTCFVFFDLFNALTCRSQTKLIFEIGFLRNHMFLYSVLGSILGQLAVIYIPPLQRVFQTENLGALDLLFLTGLASSVFILSELLKLCEKYCCSPKRVQMHPEDV", "length": 963, "header": "sp|O75185-2|AT2C2_HUMAN Isoform 2 of Calcium-transporting ATPase type 2C member 2 OS=Homo sapiens OX=9606 GN=ATP2C2 PE=1 SV=3 CANONICAL=O75185-1" }, "locus": {} }, { "isoform_ac": "O75185-3", "url": "", "sequence": { "sequence": "MVEGRVSEFLKKLGFSGGGRQYQALEKDEEEALIDEQSELKAIEKEKKVTALPPKEACKCQKEDLARAFCVDLHTGLSEFSVTQRRLAHGWNEFVADNSEPVWKKYLDQFKNPLILLLLGSALVSVLTKEYEDAVSIATAVLVVVTVAFIQEYRSEKSLEELTKLVPPECNCLREGKLQHLLARELVPGDVVSLSIGDRIPADIRLTEVTDLLVDESSFTGEAEPCSKTDSPLTGGGDLTTLSNIVFMGTLVQYGRGQGVVIGTGESSQFGEVFKMMQAEETPKTPLQKSMDRLGKQLTLFSFGIIGLIMLIGWSQGKQLLSMFTIGVSLAVAAIPEGLPIVVMVTLVLGVLRMAKKRVIVKKLPIVETLGCCSVLCSDKTGTLTANEMTVTQLVTSDGLRAEVSGVGYDGQGTVCLLPSKEVIKEFSNVSVGKLVEAGCVANNAVIRKNAVMGQPTEGALMALAMKMDLSDIKNSYIRKKEIPFSSEQKWMAVKCSLKTEDQEDIYFMKGALEEVIRYCTMYNNGGIPLPLTPQQRSFCLQEEKRMGSLGLRVLALASGPELGRLTFLGLVGIIDPPRVGVKEAVQVLSESGVSVKMITGDALETALAIGRNIGLCNGKLQAMSGEEVDSVEKGELADRVGKVSVFFRTSPKHKLKIIKALQESGAIVAMTGDGVNDAVALKSADIGIAMGQTGTDVSKEAANMILVDDDFSAIMNAVEEGKGIFYNIKNFVRFQLSTSISALSLITLSTVFNLPSPLNAMQILWINIIMDGPPAQRSSQKTEVCCTAVRLGVEGRGESTWAGRAGLGVEPVDKDAFRQPPRSVRDTILSRALILKILMSAAIIISGTLFIFWKEMPEDRASTPRTTTMTFTCFVFFDLFNALTCRSQTKLIFEIGFLRNHMFLYSVLGSILGQLAVIYIPPLQRVFQTENLGALDLLFLTGLASSVFILSELLKLCEKYCCSPKRVQMHPEDV", "length": 975, "header": "sp|O75185-3|AT2C2_HUMAN Isoform 3 of Calcium-transporting ATPase type 2C member 2 OS=Homo sapiens OX=9606 GN=ATP2C2 PE=1 SV=3 CANONICAL=O75185-1" }, "locus": { "chromosome": "16", "start_pos": 84463729, "end_pos": 84368616, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000416219.6", "url": "https://www.ensembl.org/id/ENST00000416219.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000397925.2", "url": "https://www.ensembl.org/id/ENSP00000397925.2" } ] } } ], "glycosylation": [], "phosphorylation": [ { "start_pos": 264, "end_pos": 264, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "O75185", "url": "https://www.uniprot.org/uniprot/O75185" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "iPTMnet", "id": "O75185", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75185" } ], "site_lbl": "Thr264" }, { "start_pos": 267, "end_pos": 267, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O75185", "url": "https://www.uniprot.org/uniprot/O75185" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "iPTMnet", "id": "O75185", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75185" } ], "site_lbl": "Ser267" }, { "start_pos": 268, "end_pos": 268, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O75185", "url": "https://www.uniprot.org/uniprot/O75185" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "iPTMnet", "id": "O75185", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75185" } ], "site_lbl": "Ser268" } ], "glycation": [], "keywords": [ "enzyme" ], "publication": [ { "title": "Defective copper-induced trafficking and localization of the Menkes protein in patients with mild and copper-treated classical Menkes disease.", "journal": "Human molecular genetics", "date": "1999", "authors": "Ambrosini L, Mercer JF", "evidence": [ { "database": "Reactome", "id": "R-HSA-936837", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-936837" } ], "reference": [ { "type": "PubMed", "id": "10401004", "url": "https://glygen.org/publication/PubMed/10401004" } ] }, { "title": "The Menkes protein (ATP7A; MNK) cycles via the plasma membrane both in basal and elevated extracellular copper using a C-terminal di-leucine endocytic signal.", "journal": "Human molecular genetics", "date": "1999", "authors": "Petris MJ, Mercer JF", "evidence": [ { "database": "Reactome", "id": "R-HSA-936837", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-936837" } ], "reference": [ { "type": "PubMed", "id": "10484781", "url": "https://glygen.org/publication/PubMed/10484781" } ] }, { "title": "Mutations in ATP2C1, encoding a calcium pump, cause Hailey-Hailey disease.", "journal": "Nature genetics", "date": "2000", "authors": "Hu Z, Bonifas JM, Beech J, Bench G, Shigihara T, Ogawa H, Ikeda S, Mauro T, Epstein EH Jr", "evidence": [ { "database": "Reactome", "id": "R-HSA-936837", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-936837" } ], "reference": [ { "type": "PubMed", "id": "10615129", "url": "https://glygen.org/publication/PubMed/10615129" } ] }, { "title": "Hailey-Hailey disease is caused by mutations in ATP2C1 encoding a novel Ca(2+) pump.", "journal": "Human molecular genetics", "date": "2000", "authors": "Sudbrak R, Brown J, Dobson-Stone C, Carter S, Ramser J, White J, Healy E, Dissanayake M, Larregue M, Perrussel M, Lehrach H, Munro CS, Strachan T, Burge S, Hovnanian A, Monaco AP", "evidence": [ { "database": "Reactome", "id": "R-HSA-936837", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-936837" } ], "reference": [ { "type": "PubMed", "id": "10767338", "url": "https://glygen.org/publication/PubMed/10767338" } ] }, { "title": "A novel isoform of the secretory pathway Ca2+,Mn(2+)-ATPase, hSPCA2, has unusual properties and is expressed in the brain.", "journal": "The Journal of biological chemistry", "date": "2005", "authors": "Xiang M, Mohamalawari D, Rao R", "evidence": [ { "database": "UniProtKB", "id": "O75185", "url": "https://www.uniprot.org/uniprot/O75185" }, { "database": "RefSeq", "id": "NP_001273456", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273456" } ], "reference": [ { "type": "PubMed", "id": "15677451", "url": "https://glygen.org/publication/PubMed/15677451" } ] }, { "title": "The secretory pathway Ca2+/Mn2+-ATPase 2 is a Golgi-localized pump with high affinity for Ca2+ ions.", "journal": "The Journal of biological chemistry", "date": "2005", "authors": "Vanoevelen J, Dode L, Van Baelen K, Fairclough RJ, Missiaen L, Raeymaekers L, Wuytack F", "evidence": [ { "database": "UniProtKB", "id": "O75185", "url": "https://www.uniprot.org/uniprot/O75185" }, { "database": "Reactome", "id": "R-HSA-936837", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-936837" }, { "database": "RefSeq", "id": "NP_001273456", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273456" } ], "reference": [ { "type": "PubMed", "id": "15831496", "url": "https://glygen.org/publication/PubMed/15831496" } ] }, { "title": "The type 4 subfamily of P-type ATPases, putative aminophospholipid translocases with a role in human disease.", "journal": "Biochimica et biophysica acta", "date": "2005", "authors": "Paulusma CC, Oude Elferink RP", "evidence": [ { "database": "Reactome", "id": "R-HSA-936837", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-936837" } ], "reference": [ { "type": "PubMed", "id": "15919184", "url": 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"date": "1991", "authors": "Ma JY, Song YH, Sjostrand SE, Rask L, Mardh S", "evidence": [ { "database": "Reactome", "id": "R-HSA-936837", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-936837" } ], "reference": [ { "type": "PubMed", "id": "1656976", "url": "https://glygen.org/publication/PubMed/1656976" } ] }, { "title": "Review article: the clinical pharmacology of proton pump inhibitors.", "journal": "Alimentary pharmacology & therapeutics", "date": "2006", "authors": "Sachs G, Shin JM, Howden CW", "evidence": [ { "database": "Reactome", "id": "R-HSA-936837", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-936837" } ], "reference": [ { "type": "PubMed", "id": "16700898", "url": "https://glygen.org/publication/PubMed/16700898" } ] }, { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski 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orthologue of human ATP13A2.", "journal": "Biochemical and biophysical research communications", "date": "2009", "authors": "Schmidt K, Wolfe DM, Stiller B, Pearce DA", "evidence": [ { "database": "Reactome", "id": "R-HSA-936837", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-936837" } ], "reference": [ { "type": "PubMed", "id": "19345671", "url": "https://glygen.org/publication/PubMed/19345671" } ] }, { "title": "Crystal structure of human copper homeostasis protein CutC reveals a potential copper-binding site.", "journal": "Journal of structural biology", "date": "2010", "authors": "Li Y, Du J, Zhang P, Ding J", "evidence": [ { "database": "Reactome", "id": "R-HSA-936837", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-936837" } ], "reference": [ { "type": "PubMed", "id": "19878721", "url": "https://glygen.org/publication/PubMed/19878721" } ] }, { "title": "Store-independent activation of Orai1 by SPCA2 in mammary tumors.", "journal": "Cell", "date": "2010", "authors": "Feng M, Grice DM, Faddy HM, Nguyen N, Leitch S, Wang Y, Muend S, Kenny PA, Sukumar S, Roberts-Thomson SJ, Monteith GR, Rao R", "evidence": [ { "database": "UniProtKB", "id": "O75185", "url": "https://www.uniprot.org/uniprot/O75185" } ], "reference": [ { "type": "PubMed", "id": "20887894", "url": "https://glygen.org/publication/PubMed/20887894" } ] }, { "title": "Human gastric (H+ + K+)-ATPase gene. Similarity to (Na+ + K+)-ATPase genes in exon/intron organization but difference in control region.", "journal": "The Journal of biological chemistry", "date": "1990", "authors": "Maeda M, Oshiman K, Tamura S, Futai M", "evidence": [ { "database": "Reactome", "id": "R-HSA-936837", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-936837" } ], "reference": [ { "type": "PubMed", "id": "2160952", "url": "https://glygen.org/publication/PubMed/2160952" } ] }, { "title": "PARK9-associated ATP13A2 localizes to intracellular acidic vesicles and regulates cation homeostasis and neuronal integrity.", "journal": "Human molecular genetics", "date": "2012", "authors": "Ramonet D, Podhajska A, Stafa K, Sonnay S, Trancikova A, Tsika E, Pletnikova O, Troncoso JC, Glauser L, Moore DJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-936837", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-936837" } ], "reference": [ { "type": "PubMed", "id": "22186024", "url": "https://glygen.org/publication/PubMed/22186024" } ] }, { "title": "Early-onset autosomal-recessive parkinsonian-pyramidal syndrome.", "journal": "Acta neurologica Taiwanica", "date": "2012", "authors": "Lai HJ, Lin CH, Wu RM", "evidence": [ { "database": "Reactome", "id": "R-HSA-936837", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-936837" } ], "reference": [ { "type": "PubMed", "id": "23196729", "url": "https://glygen.org/publication/PubMed/23196729" } ] }, { "title": "SPCA2 regulates Orai1 trafficking and store independent Ca2+ entry in a model of lactation.", "journal": "PloS one", "date": "2013", "authors": "Cross BM, Hack A, Reinhardt TA, Rao R", "evidence": [ { "database": "UniProtKB", "id": "O75185", "url": "https://www.uniprot.org/uniprot/O75185" } ], "reference": [ { "type": "PubMed", "id": "23840669", "url": "https://glygen.org/publication/PubMed/23840669" } ] }, { "title": "The yeast p5 type ATPase, spf1, regulates manganese transport into the endoplasmic reticulum.", "journal": "PloS one", "date": "2013", "authors": "Cohen Y, Megyeri M, Chen OC, Condomitti G, Riezman I, Loizides-Mangold U, Abdul-Sada A, Rimon N, Riezman H, Platt FM, Futerman AH, Schuldiner M", "evidence": [ { "database": "Reactome", "id": "R-HSA-936837", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-936837" } ], "reference": [ { "type": "PubMed", "id": "24392018", "url": "https://glygen.org/publication/PubMed/24392018" } ] }, { "title": "Pharmacokinetics, Pharmacodynamics and Safety of Multiple-Infusion Ilaprazole in Healthy Chinese Subjects.", "journal": "Clinical drug investigation", "date": "2016", "authors": "Wang H, Lang L, Ou N, Shi R, Hu H, Hu P, Jiang J", "evidence": [ { "database": "Reactome", "id": "R-HSA-936837", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-936837" } ], "reference": [ { "type": "PubMed", "id": "27067231", "url": "https://glygen.org/publication/PubMed/27067231" } ] }, { "title": "An N-terminal Ca(2+)-binding motif regulates the secretory pathway Ca(2+)/Mn(2+)-transport ATPase SPCA1.", "journal": "The Journal of biological chemistry", "date": "2019", "authors": "Chen J, Smaardijk S, Mattelaer CA, Pamula F, Vandecaetsbeek I, Vanoevelen J, Wuytack F, Lescrinier E, Eggermont J, Vangheluwe P", "evidence": [ { "database": "UniProtKB", "id": "O75185", "url": "https://www.uniprot.org/uniprot/O75185" } ], "reference": [ { "type": "PubMed", "id": "30923126", "url": "https://glygen.org/publication/PubMed/30923126" } ] }, { "title": "A Ca(2+)-ATPase Regulates E-cadherin Biogenesis and Epithelial-Mesenchymal Transition in Breast Cancer Cells.", "journal": "Molecular cancer research : MCR", "date": "2019", "authors": "Dang DK, Makena MR, Llongueras JP, Prasad H, Ko M, Bandral M, Rao R", "evidence": [ { "database": "RefSeq", "id": "NP_001273456", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273456" } ], "reference": [ { "type": "PubMed", "id": "31076498", "url": "https://glygen.org/publication/PubMed/31076498" } ] }, { "title": "The pancreas-specific form of secretory pathway calcium ATPase 2 regulates multiple pathways involved in calcium homeostasis.", "journal": "Biochimica et biophysica acta. 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"MGRRFKFLQKLAFLGQNHRYKALERDEVDTLIDEQYELKAIEREKAVAALPPREACKCSKEELARTFHVDLDSGLSEFAVAQRRLVHGWNEFVTDNTEPVWKKYLDQFRNPLILLLLGSSVVSVLTKEYEDAISIALAVLIVVTVGFIQEYRSEKSLEELTKLVPPECNCLRDGKLRHMLARDLVPGDVVSLSMGDRIPADIRLTEVTDLLVDESSFTGEVEPCSKTDSPLAGGGDLSTLSNVVFMGTLVQCGKGQGVVIGTGEQSQFGEVFKMMRAEETPKTPLQKSMDKLGKQLTVFSFGIIGLLMLVGWVQGKPLLSMFTIGVSLAVAAIPEGLPIVVMVTLVLGVLRMAKKRVIVKKLPIVETLGCCNVICSDKTGTLTANEMTATQLVTSDGFHAEVSGIGYSGEGTVCLLPSKEVIKEFSNVSVGKLVEAGCVANNAVVRKNAVMGQPTEGALVVLAMKMNLGSIKDSYIRKKEIPFSSEQKWMAVRCSLKNEDEEDVYFMKGAFEEVIHHCSTYNNGGIPLPLTPQQKSYCQQEEKKMGSLGLRVLALASGPELGRLTFLGLVGIIDPPRAGVKEAVQALSESDVSVKMVTGDALETALAIGRTIGLCDEKLKAMSGEEVEGMEQDALAARVRQVSVFFRTSPKHKVKIIKALQESGAIVAMTGDGVNDSVALKSADIGIAMGQTGTDVSKEAADMILVDDDFSAIMSAVEEGKGIFYNIKNFVRFQLSTSIAALSLITLSTVCNLPNPLNAMQILWVNIIMDGPPAQSLGVEPVDRDALKRPPRSVKDTILNRALILKILMSAAVILGGTLFIFWREIPENRTSTPRTTTMAFTCFVFFDLFNALSCRSQTKLIFEIGFFRNRMFLYSILGSLLGQLAVIYAPPLQKVFQTENLSALDLLLLTGLASSVFILSELLKLCEKFCSRAKADQMLPEAV", "length": 944 }, "evidence": [ { "id": "45932948", "url": "http://www.informatics.jax.org/homology/45932948", "database": "MGI" } ], "common_name": "Rat" } ], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 9, "go_terms": [ { "name": "Golgi membrane", "id": "GO:0000139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000139", "evidence": [ { "database": "UniProtKB", "id": "O75185", "url": "https://www.uniprot.org/uniprot/O75185" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "O75185", "url": "https://www.uniprot.org/uniprot/O75185" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "O75185", "url": "https://www.uniprot.org/uniprot/O75185" } ], "pmid": "" }, { "name": "basolateral plasma membrane", "id": "GO:0016323", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016323", "evidence": [ { "database": "UniProtKB", "id": "O75185", "url": "https://www.uniprot.org/uniprot/O75185" } ], "pmid": "" }, { "name": "trans-Golgi network membrane", "id": "GO:0032588", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032588", "evidence": [ { "database": "UniProtKB", "id": "O75185", "url": "https://www.uniprot.org/uniprot/O75185" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "O75185", "url": "https://www.uniprot.org/uniprot/O75185" } ], "pmid": "" }, { "name": "cytoplasmic vesicle", "id": "GO:0031410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031410", "evidence": [ { "database": "UniProtKB", "id": "O75185", "url": "https://www.uniprot.org/uniprot/O75185" } ], "pmid": "" }, { "name": "cytoplasmic side of plasma membrane", "id": "GO:0009898", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009898", "evidence": [ { "database": "UniProtKB", "id": "O75185", "url": "https://www.uniprot.org/uniprot/O75185" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "O75185", "url": "https://www.uniprot.org/uniprot/O75185" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 5, "go_terms": [ { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "O75185", "url": "https://www.uniprot.org/uniprot/O75185" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "O75185", "url": "https://www.uniprot.org/uniprot/O75185" } ], "pmid": "" }, { "name": "ATP hydrolysis activity", "id": "GO:0016887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016887", "evidence": [ { "database": "UniProtKB", "id": "O75185", "url": "https://www.uniprot.org/uniprot/O75185" } ], "pmid": "" }, { "name": "P-type calcium transporter activity", "id": "GO:0005388", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005388", "evidence": [ { "database": "UniProtKB", "id": "O75185", "url": "https://www.uniprot.org/uniprot/O75185" } ], "pmid": "" }, { "name": "P-type manganese transporter activity", "id": "GO:0140613", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140613", "evidence": [ { "database": "UniProtKB", "id": "O75185", "url": "https://www.uniprot.org/uniprot/O75185" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 6, "go_terms": [ { "name": "protein localization to plasma membrane", "id": "GO:0072659", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072659", "evidence": [ { "database": "UniProtKB", "id": "O75185", "url": "https://www.uniprot.org/uniprot/O75185" } ], "pmid": "" }, { "name": "intracellular calcium ion homeostasis", "id": "GO:0006874", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006874", "evidence": [ { "database": "UniProtKB", "id": "O75185", "url": "https://www.uniprot.org/uniprot/O75185" } ], "pmid": "" }, { "name": "calcium ion transmembrane transport", "id": "GO:0070588", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070588", "evidence": [ { "database": "UniProtKB", "id": "O75185", "url": "https://www.uniprot.org/uniprot/O75185" } ], "pmid": "" }, { "name": "positive regulation of calcium ion import", "id": "GO:0090280", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090280", "evidence": [ { "database": "UniProtKB", "id": "O75185", "url": "https://www.uniprot.org/uniprot/O75185" } ], "pmid": "" }, { "name": "manganese ion transport", "id": "GO:0006828", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006828", "evidence": [ { "database": "UniProtKB", "id": "O75185", "url": "https://www.uniprot.org/uniprot/O75185" } ], "pmid": "" }, { "name": "mammary gland epithelium development", "id": "GO:0061180", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061180", "evidence": [ { "database": "UniProtKB", "id": "O75185", "url": "https://www.uniprot.org/uniprot/O75185" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 429, "end_pos": 431, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [ { "id": "18105", "name": "", "equation": "ATP + Ca(2+)(in) + H2O = ADP + Ca(2+)(out) + H(+) + phosphate", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q64542-1", "P11506-13", "P11507-1", "P18596-2", "Q64578-1", "P11505-3", "Q64566-1", "Q64568-1", "Q8R4C1-1", "Q01814-1", "P23634-1", "Q16720-1", "P16615-1", "P98194-1", "Q93084-2", "O14983-1", "O75185-1", "P20020-3", "Q0VF55-1", "Q8R429-1", "O55143-1", "A7L9Z8-1", "G5E829-1", "Q80XR2-1", "Q6Q477-1", "Q64518-2", "Q9R0K7-1", "P13586-1", "P38929-1", "Q54PE8-1", "Q54HG6-1", "P54678-1", "P22700-1", "Q59DP9-1", "M9PG15-1" ], "evidence": [ { "id": "18105", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/18105" } ] }, { "id": "66820", "name": "", "equation": "ATP + H2O + Mn(2+)(in) = ADP + H(+) + Mn(2+)(out) + phosphate", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q64566-1", "Q8R4C1-1", "P98194-1", "O75185-1", "A7L9Z8-1", "Q80XR2-1", "M9PG15-1" ], "evidence": [ { "id": "66820", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/66820" } ] }, { "id": "R-HSA-936883", "name": "ATP2C1/2:Mg2+ transport cytosolic Ca2+ to Golgi lumen", "equation": "", "summary": "Accumulation of calcium into the Golgi apparatus is mediated by sarco(endo)plasmic reticulum calcium-ATPases (SERCAs) and by secretory pathway calcium-ATPases (SPCAs). There are two human genes which encode SPCAs; ATP2C1 and ATP2C2 which encode magnesium-dependent calcium-transporting ATPase type 2C members 1 and 2 (ATP2C1 and 2) respectively (Sudbrak et al, 2000; Vanoevelen et al, 2005). Defects in ATP2C1 are the cause of Hailey-Hailey disease (HHD), an autosomal dominant disease characterized by persistent blisters and erosions of the skin (Hu et al, 2000).", "cellular_location": "Golgi membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O75185-1", "P98194-1" ], "evidence": [ { "id": "R-HSA-936883", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-936883" } ] } ], "reaction_participants": [], "reaction_enzymes": [ { "uniprot_ac": "A7L9Z8", "gene_name": "Atp2c2", "activity": [ { "ec_number": "7.2.2.10", "activity": "ATP + Ca(2+)(in) + H2O = ADP + Ca(2+)(out) + H(+) + phosphate.", "evidence": [ { "id": "A7L9Z8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A7L9Z8" } ] }, { "ec_number": "7.2.2.10", "activity": "", "evidence": [ { "id": "A7L9Z8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A7L9Z8" } ] } ] }, { "uniprot_ac": "G5E829", "gene_name": "Atp2b1", "activity": [ { "ec_number": "7.2.2.10", "activity": "ATP + Ca(2+)(in) + H2O = ADP + Ca(2+)(out) + H(+) + phosphate.", "evidence": [ { "id": "G5E829", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/G5E829" } ] }, { "ec_number": "7.2.2.10", "activity": "", "evidence": [ { "id": "G5E829", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/G5E829" } ] } ] }, { "uniprot_ac": "M9PG15", "gene_name": "SPoCk", "activity": [ { "ec_number": "7.2.2.10", "activity": "ATP + Ca(2+)(in) + H2O = ADP + Ca(2+)(out) + H(+) + phosphate.", "evidence": [ { "id": "M9PG15", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/M9PG15" } ] }, { "ec_number": "7.2.2.10", "activity": "", "evidence": [ { "id": "M9PG15", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/M9PG15" } ] } ] }, { "uniprot_ac": "O14983", "gene_name": "ATP2A1", "activity": [ { "ec_number": "7.2.2.10", "activity": "ATP + Ca(2+)(in) + H2O = ADP + Ca(2+)(out) + H(+) + phosphate.", "evidence": [ { "id": "O14983", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O14983" } ] }, { "ec_number": "7.2.2.10", "activity": "", "evidence": [ { "id": "O14983", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O14983" } ] } ] }, { "uniprot_ac": "O55143", "gene_name": "Atp2a2", "activity": [ { "ec_number": "7.2.2.10", "activity": "ATP + Ca(2+)(in) + H2O = ADP + Ca(2+)(out) + H(+) + phosphate.", "evidence": [ { "id": "O55143", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O55143" } ] }, { "ec_number": "7.2.2.10", "activity": "", "evidence": [ { "id": "O55143", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O55143" } ] } ] }, { "uniprot_ac": "O75185", "gene_name": "ATP2C2", "activity": [ { "ec_number": "7.2.2.10", "activity": "ATP + Ca(2+)(in) + H2O = ADP + Ca(2+)(out) + H(+) + phosphate.", "evidence": [ { "id": "O75185", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O75185" } ] }, { "ec_number": "7.2.2.10", "activity": "", "evidence": [ { "id": "O75185", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O75185" } ] } ] }, { "uniprot_ac": "P11505", "gene_name": "Atp2b1", "activity": [ { "ec_number": "7.2.2.10", "activity": "ATP + Ca(2+)(in) + H2O = ADP + Ca(2+)(out) + H(+) + phosphate.", "evidence": [ { "id": "P11505", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P11505" } ] }, { "ec_number": "7.2.2.10", "activity": "", "evidence": [ { "id": "P11505", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P11505" } ] } ] }, { "uniprot_ac": "P11506", "gene_name": "Atp2b2", "activity": [ { "ec_number": "7.2.2.10", "activity": "ATP + Ca(2+)(in) + H2O = ADP + Ca(2+)(out) + H(+) + phosphate.", "evidence": [ { "id": "P11506", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P11506" } ] }, { "ec_number": "7.2.2.10", "activity": "", "evidence": [ { "id": "P11506", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P11506" } ] } ] }, { "uniprot_ac": "P11507", "gene_name": "Atp2a2", "activity": [ { "ec_number": "7.2.2.10", "activity": "ATP + Ca(2+)(in) + H2O = ADP + Ca(2+)(out) + H(+) + phosphate.", "evidence": [ { "id": "P11507", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P11507" } ] }, { "ec_number": "7.2.2.10", "activity": "", "evidence": [ { "id": "P11507", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P11507" } ] } ] }, { "uniprot_ac": "P13586", "gene_name": "PMR1", "activity": [ { "ec_number": "7.2.2.10", "activity": "ATP + Ca(2+)(in) + H2O = ADP + Ca(2+)(out) + H(+) + phosphate.", "evidence": [ { "id": "P13586", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P13586" } ] }, { "ec_number": "7.2.2.10", "activity": "", "evidence": [ { "id": "P13586", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P13586" } ] } ] }, { "uniprot_ac": "P16615", "gene_name": "ATP2A2", "activity": [ { "ec_number": "7.2.2.10", "activity": "ATP + Ca(2+)(in) + H2O = ADP + Ca(2+)(out) + H(+) + phosphate.", "evidence": [ { "id": "P16615", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P16615" } ] }, { "ec_number": "7.2.2.10", "activity": "", "evidence": [ { "id": "P16615", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P16615" } ] } ] }, { "uniprot_ac": "P18596", "gene_name": "Atp2a3", "activity": [ { "ec_number": "7.2.2.10", "activity": "ATP + Ca(2+)(in) + H2O = ADP + Ca(2+)(out) + H(+) + phosphate.", "evidence": [ { "id": "P18596", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P18596" } ] }, { "ec_number": "7.2.2.10", "activity": "", "evidence": [ { "id": "P18596", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P18596" } ] } ] }, { "uniprot_ac": "P20020", "gene_name": "ATP2B1", "activity": [ { "ec_number": "7.2.2.10", "activity": "ATP + Ca(2+)(in) + H2O = ADP + Ca(2+)(out) + H(+) + phosphate.", "evidence": [ { "id": "P20020", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P20020" } ] }, { "ec_number": "7.2.2.10", "activity": "", "evidence": [ { "id": "P20020", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P20020" } ] } ] }, { "uniprot_ac": "P22700", "gene_name": "SERCA", "activity": [ { "ec_number": "7.2.2.10", "activity": "ATP + Ca(2+)(in) + H2O = ADP + Ca(2+)(out) + H(+) + phosphate.", "evidence": [ { "id": "P22700", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P22700" } ] }, { "ec_number": "7.2.2.10", "activity": "", "evidence": [ { "id": "P22700", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P22700" } ] } ] }, { "uniprot_ac": "P23634", "gene_name": "ATP2B4", "activity": [ { "ec_number": "7.2.2.10", "activity": "ATP + Ca(2+)(in) + H2O = ADP + Ca(2+)(out) + H(+) + phosphate.", "evidence": [ { "id": "P23634", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P23634" } ] }, { "ec_number": "7.2.2.10", "activity": "", "evidence": [ { "id": "P23634", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P23634" } ] } ] }, { "uniprot_ac": "P38929", "gene_name": "PMC1", "activity": [ { "ec_number": "7.2.2.10", "activity": "ATP + Ca(2+)(in) + H2O = ADP + Ca(2+)(out) + H(+) + phosphate.", "evidence": [ { "id": "P38929", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P38929" } ] }, { "ec_number": "7.2.2.10", "activity": "", "evidence": [ { "id": "P38929", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P38929" } ] } ] }, { "uniprot_ac": "P54678", "gene_name": "patA", "activity": [ { "ec_number": "7.2.2.10", "activity": "ATP + Ca(2+)(in) + H2O = ADP + Ca(2+)(out) + H(+) + phosphate.", "evidence": [ { "id": "P54678", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P54678" } ] }, { "ec_number": "7.2.2.10", "activity": "", "evidence": [ { "id": "P54678", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P54678" } ] } ] }, { "uniprot_ac": "P98194", "gene_name": "ATP2C1", "activity": [ { "ec_number": "7.2.2.10", "activity": "ATP + Ca(2+)(in) + H2O = ADP + Ca(2+)(out) + H(+) + phosphate.", "evidence": [ { "id": "P98194", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P98194" } ] }, { "ec_number": "7.2.2.10", "activity": "", "evidence": [ { "id": "P98194", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P98194" } ] } ] }, { "uniprot_ac": "Q01814", "gene_name": "ATP2B2", "activity": [ { "ec_number": "7.2.2.10", "activity": "ATP + Ca(2+)(in) + H2O = ADP + Ca(2+)(out) + H(+) + phosphate.", "evidence": [ { "id": "Q01814", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q01814" } ] }, { "ec_number": "7.2.2.10", "activity": "", "evidence": [ { "id": "Q01814", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q01814" } ] } ] }, { "uniprot_ac": "Q0VF55", "gene_name": "Atp2b3", "activity": [ { "ec_number": "7.2.2.10", "activity": "ATP + 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