{ "uniprot_canonical_ac": "O14745-1", "uniprot_ac": "O14745", "uniprot_id": "NHRF1_HUMAN", "mass": { "chemical_mass": 38868.0, "monoisotopic_mass": 38868.0 }, "refseq": { "ac": "NP_004243", "name": "Na(+)/H(+) exchange regulatory cofactor NHE-RF1", "summary": "This gene encodes a sodium/hydrogen exchanger regulatory cofactor. The protein interacts with and regulates various proteins including the cystic fibrosis transmembrane conductance regulator and G-protein coupled receptors such as the beta2-adrenergic receptor and the parathyroid hormone 1 receptor. The protein also interacts with proteins that function as linkers between integral membrane and cytoskeletal proteins. The protein localizes to actin-rich structures including membrane ruffles, microvilli, and filopodia. Mutations in this gene result in hypophosphatemic nephrolithiasis/osteoporosis type 2, and loss of heterozygosity of this gene is implicated in breast cancer.[provided by RefSeq, Sep 2009].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004243" }, "gene_names": [ { "name": "NHERF1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O14745", "id": "O14745" }, { "name": "EBP50; NHE-RF; NHERF; NHERF-1; NPHLOP2; SLC9A3R1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004243", "id": "NP_004243" }, { "name": "NHERF1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004243", "id": "NP_004243" }, { "name": "NHERF", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O14745", "id": "O14745" }, { "name": "SLC9A3R1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O14745", "id": "O14745" } ], "protein_names": [ { "name": "Na(+)/H(+) exchange regulatory cofactor NHE-RF1", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O14745" }, { "name": "EBP50", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O14745" }, { "name": "Ezrin-radixin-moesin-binding phosphoprotein 50", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O14745" }, { "name": "NHERF-1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O14745" }, { "name": "Na(+)/H(+) exchange regulatory cofactor NHE-RF1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004243", "id": "NP_004243" }, { "name": "Na+/H+ exchange regulatory co-factor; ezrin-radixin-moesin binding phosphoprotein-50; regulatory cofactor of Na(+)/H(+) exchanger; SLC9A3 regulator 1; solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 1; Na(+)/H(+) exchange regulatory cofactor 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004243", "id": "NP_004243" }, { "name": "Regulatory cofactor of Na(+)/H(+) exchanger", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O14745" }, { "name": "Sodium-hydrogen exchanger regulatory factor 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O14745" }, { "name": "Solute carrier family 9 isoform A3 regulatory factor 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O14745" } ], "function": [ { "annotation": "Cotranslational interaction of human EBP50 and ezrin overcomes masked binding site during complex assembly.", "evidence": [ { "database": "RefSeq", "id": "NP_004243", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004243" }, { "database": "PubMed", "id": "35140182", "url": "https://glygen.org/publication/PubMed/35140182" } ] }, { "annotation": "High frequency of heterozygous rare variants of the SLC34A1 and SLC9A3R1 genes in patients with atypical femur fracture.", "evidence": [ { "database": "RefSeq", "id": "NP_004243", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004243" }, { "database": "PubMed", "id": "36762943", "url": "https://glygen.org/publication/PubMed/36762943" } ] }, { "annotation": "RGS14 regulates PTH- and FGF23-sensitive NPT2A-mediated renal phosphate uptake via binding to the NHERF1 scaffolding protein.", "evidence": [ { "database": "RefSeq", "id": "NP_004243", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004243" }, { "database": "PubMed", "id": "35307350", "url": "https://glygen.org/publication/PubMed/35307350" } ] }, { "annotation": "Scaffold protein that connects plasma membrane proteins with members of the ezrin/moesin/radixin family and thereby helps to link them to the actin cytoskeleton and to regulate their surface expression. Necessary for recycling of internalized ADRB2. Was first known to play a role in the regulation of the activity and subcellular location of SLC9A3. Necessary for cAMP-mediated phosphorylation and inhibition of SLC9A3. May enhance Wnt signaling. May participate in HTR4 targeting to microvilli (By similarity). Involved in the regulation of phosphate reabsorption in the renal proximal tubules. Involved in sperm capacitation. May participate in the regulation of the chloride and bicarbonate homeostasis in spermatozoa.", "evidence": [ { "database": "UniProtKB", "id": "O14745", "url": "https://www.uniprot.org/uniprot/O14745#function" }, { "database": "PubMed", "id": "9430655", "url": "https://glygen.org/publication/PubMed/9430655" }, { "database": "PubMed", "id": "10499588", "url": "https://glygen.org/publication/PubMed/10499588" }, { "database": "PubMed", "id": "9096337", "url": "https://glygen.org/publication/PubMed/9096337" }, { "database": "PubMed", "id": "18784102", "url": "https://glygen.org/publication/PubMed/18784102" } ] }, { "annotation": "This gene encodes a sodium/hydrogen exchanger regulatory cofactor. The protein interacts with and regulates various proteins including the cystic fibrosis transmembrane conductance regulator and G-protein coupled receptors such as the beta2-adrenergic receptor and the parathyroid hormone 1 receptor. The protein also interacts with proteins that function as linkers between integral membrane and cytoskeletal proteins. The protein localizes to actin-rich structures including membrane ruffles, microvilli, and filopodia. Mutations in this gene result in hypophosphatemic nephrolithiasis/osteoporosis type 2, and loss of heterozygosity of this gene is implicated in breast cancer.[provided by RefSeq, Sep 2009].", "evidence": [ { "database": "RefSeq", "id": "NP_004243", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004243" } ] } ], "disease": [ { "disease_id": "DOID:0080078", "recommended_name": { "id": "DOID:0080078", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080078", "name": "hypophosphatemic nephrolithiasis/osteoporosis 2", "description": "A hypophosphatemic nephrolithiasis/osteoporosis that has_material_basis_in heterozygous mutation in the SLC9A3R1 gene on chromosome 17q25.1." }, "synonyms": [ { "id": "MONDO:0012851", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012851", "name": "hypophosphatemic nephrolithiasis/osteoporosis 2", "description": "" }, { "id": "MONDO:0012851", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012851", "name": "hypophosphatemic nephrolithiasis/osteoporosis type 2", "description": "" }, { "id": "MONDO:0012851", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012851", "name": "nephrolithiasis/osteoporosis, hypophosphatemic, type 2", "description": "" }, { "id": "MONDO:0012851", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012851", "name": "NPHLOP2", "description": "" }, { "id": "MONDO:0012851", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012851", "name": "nephrolithiasis/osteoporosis, hypophosphatemic, 2", "description": "" }, { "id": "MIM:612287", "resource": "MIM", "url": "https://www.omim.org/entry/612287", "name": "Nephrolithiasis/osteoporosis, hypophosphatemic, 2", "description": "Nephrolithiasis/osteoporosis, hypophosphatemic, 2" } ], "evidence": [ { "id": "612287", "database": "MIM", "url": "https://www.omim.org/entry/612287" } ] } ], "snv": [], "mutagenesis": [ { "start_pos": 164, "end_pos": 166, "sequence_org": "YGF", "sequence_mut": "AGA", "comment": "Loss of interaction with ACE2.", "evidence": [ { "database": "UniProtKB", "id": "O14745", "url": "https://www.uniprot.org/uniprot/O14745" }, { "database": "PubMed", "id": "34189428", "url": "https://glygen.org/publication/PubMed/34189428" } ] }, { "start_pos": 24, "end_pos": 26, "sequence_org": "YGF", "sequence_mut": "AGA", "comment": "Loss of interaction with ACE2.", "evidence": [ { "database": "UniProtKB", "id": "O14745", "url": "https://www.uniprot.org/uniprot/O14745" }, { "database": "PubMed", "id": "34189428", "url": "https://glygen.org/publication/PubMed/34189428" } ] }, { "start_pos": 355, "end_pos": 355, "sequence_org": "F", "sequence_mut": "R", "comment": "Loss of MSX binding.", "evidence": [ { "database": "UniProtKB", "id": "O14745", "url": "https://www.uniprot.org/uniprot/O14745" }, { "database": "PubMed", "id": "15020681", "url": "https://glygen.org/publication/PubMed/15020681" } ] }, { "start_pos": 358, "end_pos": 358, "sequence_org": "L", "sequence_mut": "", "comment": "Reduces MSX binding.", "evidence": [ { "database": "UniProtKB", "id": "O14745", "url": "https://www.uniprot.org/uniprot/O14745" }, { "database": "PubMed", "id": "15020681", "url": "https://glygen.org/publication/PubMed/15020681" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "97.18", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000109062", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000109062" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "95.36", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000109062", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000109062" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "91.55", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000109062", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000109062" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "78.1", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000109062", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000109062" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "88.73", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000109062", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000109062" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "95.86", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000109062", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000109062" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "86.53", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000109062", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000109062" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "77.6", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000109062", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000109062" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "87.02", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000109062", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000109062" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "75.32", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000109062", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000109062" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "96.07", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000109062", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000109062" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "94.39", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000109062", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000109062" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "92.83", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000109062", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000109062" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O14745", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O14745" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the 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"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", 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"BioXpress", "id": "O14745", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O14745" } ], "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": 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"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", 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"description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "No", "trend": "up", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "O14745", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O14745" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary 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"MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "O14745", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O14745" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "O14745", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O14745" } ], "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "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 kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "O14745", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O14745" } ], "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "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 in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast 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": "No", "trend": "down", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O14745", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O14745" } ], "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": "up", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "O14745", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O14745" } ], "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": "Yes", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "O14745", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O14745" } ], "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": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Uterine cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:363", "evidence": [ { "database": "BioXpress", "id": "O14745", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O14745" } ], "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": "" }, { "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": "" } ] } ] }, { "significant": "No", "trend": "down", "name": "Esophageal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:5041", "evidence": [ { "database": "BioXpress", "id": "O14745", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O14745" } ], "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is 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"https://www.rcsb.org/structure/1GQ4", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "1GQ5", "url": "https://www.rcsb.org/structure/1GQ5", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "1I92", "url": "https://www.rcsb.org/structure/1I92", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "1SGH", "url": "https://www.rcsb.org/structure/1SGH", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "2D10", "url": "https://www.rcsb.org/structure/2D10", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "2JXO", "url": "https://www.rcsb.org/structure/2JXO", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "2KJD", "url": "https://www.rcsb.org/structure/2KJD", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "2KRG", "url": "https://www.rcsb.org/structure/2KRG", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "2M0T", "url": "https://www.rcsb.org/structure/2M0T", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "2M0U", "url": "https://www.rcsb.org/structure/2M0U", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "2M0V", "url": "https://www.rcsb.org/structure/2M0V", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "2OZF", "url": "https://www.rcsb.org/structure/2OZF", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4JL7", "url": "https://www.rcsb.org/structure/4JL7", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4LMM", "url": "https://www.rcsb.org/structure/4LMM", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4MPA", "url": "https://www.rcsb.org/structure/4MPA", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4N6X", "url": "https://www.rcsb.org/structure/4N6X", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4PQW", "url": "https://www.rcsb.org/structure/4PQW", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4Q3H", "url": "https://www.rcsb.org/structure/4Q3H", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6RQR", "url": "https://www.rcsb.org/structure/6RQR", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF00595", "url": "http://pfam.xfam.org/family/PF00595", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF09007", "url": "http://pfam.xfam.org/family/PF09007", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "O14745", "url": "https://pharos.nih.gov/targets/O14745", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_O14745", "url": "http://purl.obolibrary.org/obo/PR_O14745", "database": "PRO", "categories": [ "Protein" ] }, { "id": "NP_004243", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004243", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "J3QRA3", "url": "https://www.uniprot.org/uniprot/J3QRA3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "J3QRA3-1", "url": "https://www.uniprot.org/uniprot/J3QRA3-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "J3QRP6", "url": "https://www.uniprot.org/uniprot/J3QRP6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "J3QRP6-1", "url": "https://www.uniprot.org/uniprot/J3QRP6-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O14745", "url": "https://www.uniprot.org/uniprot/O14745", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O14745-1", "url": "https://www.uniprot.org/uniprot/O14745-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O14745-2", "url": "https://www.uniprot.org/uniprot/O14745-2", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MSADAAAGAPLPRLCCLEKGPNGYGFHLHGEKGKLGQYIRLVEPGSPAEKAGLLAGDRLVEVNGENVEKETHQQVVSRIRAALNAVRLLVVDPETDEQLQKLGVQVREELLRAQEAPGQAEPPAAAEVQGAGNENEPREADKSHPEQRELRPRLCTMKKGPSGYGFNLHSDKSKPGQFIRSVDPDSPAEASGLRAQDRIVEVNGVCMEGKQHGDVVSAIRAGGDETKLLVVDRETDEFFKKCRVIPSQEHLNGPLPVPFTNGEIQKENSREALAEAALESPRPALVRSASSDTSEELNSQDSPPKQDSTAPSSTSSSDPILDFNISLAMAKERAHQKRSSKRAPQMDWSKKNELFSNL", "length": 358, "header": "sp|O14745-1|NHRF1_HUMAN Isoform 1 of Na(+)/H(+) exchange regulatory cofactor NHE-RF1 OS=Homo sapiens OX=9606 GN=NHERF1 PE=1 SV=4 CANONICAL=O14745-1" }, "isoforms": [ { "isoform_ac": "J3QRA3-1", "url": "", "sequence": { "sequence": "XGDETKLLVVDRETDEFFKKCRVIPSQEHLNGEQS", "length": 35, "header": "tr|J3QRA3-1|J3QRA3_HUMAN Computationally mapped isoform of NHERF family PDZ scaffold protein 1 OS=Homo sapiens OX=9606 GN=NHERF1 PE=1 SV=1 CANONICAL=O14745-1" }, "locus": { "chromosome": "17", "start_pos": 74768158, "end_pos": 74763428, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000581356.1", "url": "https://www.ensembl.org/id/ENST00000581356.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000464117.1", "url": "https://www.ensembl.org/id/ENSP00000464117.1" } ] } }, { "isoform_ac": "J3QRP6-1", "url": "", "sequence": { "sequence": "MSADAAAGAPLPRLCCLEKGPNGYGFHLHGEKGKLGQYIRLVEPGSPAEKAGLLAGDRLVEVNGENVEKETHQQVVSRIRAALNAVRLLVVDPETDEQLQKLGVQVREELLRAQEAPGQAEPPAAAEVQGAGNENEPREADKSHPEQENSREALAEAALESPRPALVRSASSDTSEELNSQDSPPKQDSTAPSSTSSSDPILDFNISLAMAKERA", "length": 215, "header": "tr|J3QRP6-1|NHRF1_HUMAN Computationally mapped isoform of Na(+)/H(+) exchange regulatory cofactor NHE-RF1 OS=Homo sapiens OX=9606 GN=NHERF1 PE=1 SV=1 CANONICAL=O14745-1" }, "locus": { "chromosome": "17", "start_pos": 74768581, "end_pos": 74748847, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000583369.5", "url": "https://www.ensembl.org/id/ENST00000583369.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000464321.1", "url": "https://www.ensembl.org/id/ENSP00000464321.1" } ] } }, { "isoform_ac": "O14745-1", "url": "", "sequence": { "sequence": "MSADAAAGAPLPRLCCLEKGPNGYGFHLHGEKGKLGQYIRLVEPGSPAEKAGLLAGDRLVEVNGENVEKETHQQVVSRIRAALNAVRLLVVDPETDEQLQKLGVQVREELLRAQEAPGQAEPPAAAEVQGAGNENEPREADKSHPEQRELRPRLCTMKKGPSGYGFNLHSDKSKPGQFIRSVDPDSPAEASGLRAQDRIVEVNGVCMEGKQHGDVVSAIRAGGDETKLLVVDRETDEFFKKCRVIPSQEHLNGPLPVPFTNGEIQKENSREALAEAALESPRPALVRSASSDTSEELNSQDSPPKQDSTAPSSTSSSDPILDFNISLAMAKERAHQKRSSKRAPQMDWSKKNELFSNL", "length": 358, "header": "sp|O14745-1|NHRF1_HUMAN Isoform 1 of Na(+)/H(+) exchange regulatory cofactor NHE-RF1 OS=Homo sapiens OX=9606 GN=NHERF1 PE=1 SV=4 CANONICAL=O14745-1" }, "locus": { "chromosome": "17", "start_pos": 74768653, "end_pos": 74748847, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000262613.10", "url": "https://www.ensembl.org/id/ENST00000262613.10" }, { "database": "Ensembl Peptide", "id": "ENSP00000262613.5", "url": "https://www.ensembl.org/id/ENSP00000262613.5" } ] } }, { "isoform_ac": "O14745-2", "url": "", "sequence": { "sequence": "MKKGPSGYGFNLHSDKSKPGQFIRSVDPDSPAEASGLRAQDRIVEVNGVCMEGKQHGDVVSAIRAGGDETKLLVVDRETDEFFKKCRVIPSQEHLNGPLPVPFTNGEIQKENSREALAEAALESPRPALVRSASSDTSEELNSQDSPPKQDSTAPSSTSSSDPILDFNISLAMAKERAHQKRSSKRAPQMDWSKKNELFSNL", "length": 202, "header": "sp|O14745-2|NHRF1_HUMAN Isoform 2 of Na(+)/H(+) exchange regulatory cofactor NHE-RF1 OS=Homo sapiens OX=9606 GN=NHERF1 PE=1 SV=4 CANONICAL=O14745-1" }, "locus": { "chromosome": "17", "start_pos": 74768653, "end_pos": 74762039, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000413388.2", "url": "https://www.ensembl.org/id/ENST00000413388.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000464982.1", "url": "https://www.ensembl.org/id/ENSP00000464982.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "O14745", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O14745" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "28510447", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28510447" } ] } ], "phosphorylation": [ { "start_pos": 156, "end_pos": 156, "kinase_uniprot_canonical_ac": "P31749-1", "kinase_gene_name": "AKT1", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O14745", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O14745" }, { "database": "PubMed", "id": "25492869", "url": "https://glygen.org/publication/PubMed/25492869" } ], "site_lbl": "Thr156" }, { "start_pos": 156, "end_pos": 156, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O14745", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O14745" }, { "database": "PubMed", "id": "26862730", "url": "https://glygen.org/publication/PubMed/26862730" } ], "site_lbl": "Thr156" }, { "start_pos": 162, "end_pos": 162, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O14745", "url": "https://www.uniprot.org/uniprot/O14745" }, { "database": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" }, { "database": "phospho.ELM", "id": "O14745", "url": "http://phospho.elm.eu.org/byAccession/O14745.html" }, { "database": "iPTMnet", "id": "O14745", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O14745" }, { "database": "PubMed", "id": "12881487", "url": "https://glygen.org/publication/PubMed/12881487" }, { "database": "PubMed", "id": "22801783", "url": "https://glygen.org/publication/PubMed/22801783" } ], "site_lbl": "Ser162" }, { "start_pos": 269, "end_pos": 269, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O14745", "url": "https://www.uniprot.org/uniprot/O14745" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" }, { "database": "iPTMnet", "id": "O14745", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O14745" }, { "database": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" }, { "database": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" }, { "database": "phospho.ELM", "id": "O14745", "url": "http://phospho.elm.eu.org/byAccession/O14745.html" } ], "site_lbl": "Ser269" }, { "start_pos": 280, "end_pos": 280, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O14745", "url": "https://www.uniprot.org/uniprot/O14745" }, { "database": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" }, { "database": "PubMed", "id": "17924679", "url": "https://glygen.org/publication/PubMed/17924679" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" }, { "database": "PubMed", "id": "18220336", "url": "https://glygen.org/publication/PubMed/18220336" }, { "database": "PubMed", "id": "18088087", "url": "https://glygen.org/publication/PubMed/18088087" }, { "database": "iPTMnet", "id": "O14745", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O14745" }, { "database": "PubMed", "id": "18212344", "url": "https://glygen.org/publication/PubMed/18212344" }, { "database": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "18707149", "url": "https://glygen.org/publication/PubMed/18707149" }, { "database": "PubMed", "id": "18767875", "url": "https://glygen.org/publication/PubMed/18767875" }, { "database": "PubMed", "id": "19415658", "url": "https://glygen.org/publication/PubMed/19415658" }, { "database": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" }, { "database": "PubMed", "id": "19664994", "url": "https://glygen.org/publication/PubMed/19664994" }, { "database": "PubMed", "id": "19664995", "url": "https://glygen.org/publication/PubMed/19664995" }, { "database": "phospho.ELM", "id": "O14745", "url": "http://phospho.elm.eu.org/byAccession/O14745.html" }, { "database": "PubMed", "id": "20937695", "url": "https://glygen.org/publication/PubMed/20937695" } ], "site_lbl": "Ser280" }, { "start_pos": 288, "end_pos": 288, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O14745", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O14745" }, { "database": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" }, { "database": "PubMed", "id": "19664995", "url": "https://glygen.org/publication/PubMed/19664995" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "PubMed", "id": "20166139", "url": "https://glygen.org/publication/PubMed/20166139" } ], "site_lbl": "Ser288" }, { "start_pos": 290, "end_pos": 290, "kinase_uniprot_canonical_ac": "P43250-1", "kinase_gene_name": "GRK6", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O14745", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O14745" }, { "database": "PubMed", "id": "15302935", "url": "https://glygen.org/publication/PubMed/15302935" }, { "database": "PubMed", "id": "18088087", "url": "https://glygen.org/publication/PubMed/18088087" }, { "database": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" }, { "database": "PubMed", "id": "19664995", "url": "https://glygen.org/publication/PubMed/19664995" }, { "database": "PubMed", "id": "20166139", "url": "https://glygen.org/publication/PubMed/20166139" }, { "database": "PubMed", "id": "10446210", "url": "https://glygen.org/publication/PubMed/10446210" } ], "site_lbl": "Ser290" }, { "start_pos": 290, "end_pos": 290, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O14745", "url": "https://www.uniprot.org/uniprot/O14745" }, { "database": "iPTMnet", "id": "O14745", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O14745" }, { "database": "PubMed", "id": "15302935", "url": "https://glygen.org/publication/PubMed/15302935" }, { "database": "PubMed", "id": "18088087", "url": "https://glygen.org/publication/PubMed/18088087" }, { "database": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { 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Endocrinol.", "date": "2002", "authors": "Ediger Tracy R, Park Seong-Eun, Katzenellenbogen Benita S", "evidence": [ { "database": "UniProtKB", "id": "O14745", "url": "https://www.uniprot.org/uniprot/O14745" } ], "reference": [ { "type": "PubMed", "id": "12145337", "url": "https://glygen.org/publication/PubMed/12145337" } ] }, { "title": "The PDZ-interacting domain of TRPC4 controls its localization and surface expression in HEK293 cells.", "journal": "J. Cell Sci.", "date": "2002", "authors": "Mery L, Strauss B, Dufour JF, Krause KH, Hoth M", "evidence": [ { "database": "UniProtKB", "id": "O14745", "url": "https://www.uniprot.org/uniprot/O14745" } ], "reference": [ { "type": "PubMed", "id": "12154080", "url": "https://glygen.org/publication/PubMed/12154080" } ] }, { "title": "Regulation of GTP-binding protein alpha q (Galpha q) signaling by the ezrin-radixin-moesin-binding phosphoprotein-50 (EBP50).", "journal": "J. Biol. Chem.", "date": "2002", "authors": "Rochdi Moulay Driss, Watier Val\u00e9rie, La Madeleine Carole, Nakata Hiroko, Kozasa Tohru, Parent Jean-Luc", "evidence": [ { "database": "UniProtKB", "id": "O14745", "url": "https://www.uniprot.org/uniprot/O14745" } ], "reference": [ { "type": "PubMed", "id": "12193606", "url": "https://glygen.org/publication/PubMed/12193606" } ] }, { "title": "The cystic fibrosis transmembrane conductance regulator interacts with and regulates the activity of the HCO3- salvage transporter human Na+-HCO3-cotransport isoform 3.", "journal": "J. Biol. Chem.", "date": "2002", "authors": "Park M, Ko SB, Choi JY, Muallem G, Thomas PJ, Pushkin A, Lee MS, Kim JY, Lee MG, Muallem S, Kurtz I", "evidence": [ { "database": "UniProtKB", "id": "O14745", "url": "https://www.uniprot.org/uniprot/O14745" } ], "reference": [ { "type": "PubMed", "id": "12403779", "url": "https://glygen.org/publication/PubMed/12403779" } ] }, { "title": "The COOH termini of NBC3 and the 56-kDa H+-ATPase subunit are PDZ motifs involved in their interaction.", "journal": "Am. J. Physiol.", "date": "2003", "authors": "Pushkin A, Abuladze N, Newman D, Muronets V, Sassani P, Tatishchev S, Kurtz I", "evidence": [ { "database": "UniProtKB", "id": "O14745", "url": "https://www.uniprot.org/uniprot/O14745" } ], "reference": [ { "type": "PubMed", "id": "12444018", "url": "https://glygen.org/publication/PubMed/12444018" } ] }, { "title": "Isoforms of SLC26A6 mediate anion transport and have functional PDZ interaction domains.", "journal": "Am. J. 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Chem.", "date": "2003", "authors": "Gentzsch M, Cui L, Mengos A, Chang XB, Chen JH, Riordan JR", "evidence": [ { "database": "UniProtKB", "id": "O14745", "url": "https://www.uniprot.org/uniprot/O14745" } ], "reference": [ { "type": "PubMed", "id": "12471024", "url": "https://glygen.org/publication/PubMed/12471024" } ] }, { "title": "Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides.", "journal": "Nat. 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the United States of America", "date": "2004", "authors": "Beausoleil SA, Jedrychowski M, Schwartz D, Elias JE, Villen J, Li J, Cohn MA, Cantley LC, Gygi SP", "evidence": [ { "database": "iPTMnet", "id": "O14745-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O14745-1" } ], "reference": [ { "type": "PubMed", "id": "15302935", "url": "https://glygen.org/publication/PubMed/15302935" } ] }, { "title": "Structural basis for NHERF recognition by ERM proteins.", "journal": "Structure", "date": "2006", "authors": "Terawaki Shin-ichi, Maesaki Ryoko, Hakoshima Toshio", "evidence": [ { "database": "UniProtKB", "id": "O14745", "url": "https://www.uniprot.org/uniprot/O14745" } ], "reference": [ { "type": "PubMed", "id": "16615918", "url": "https://glygen.org/publication/PubMed/16615918" } ] }, { "title": "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.", "journal": "Cell", "date": "2006", "authors": "Olsen JV, Blagoev B, Gnad F, Macek B, Kumar C, Mortensen P, Mann M", "evidence": [ { "database": "UniProtKB", "id": "O14745", "url": "https://www.uniprot.org/uniprot/O14745" }, { "database": "iPTMnet", "id": "O14745-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O14745-1" } ], "reference": [ { "type": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" } ] }, { "title": "Protein kinase C phosphorylation disrupts Na+/H+ exchanger regulatory factor 1 autoinhibition and promotes cystic fibrosis transmembrane conductance regulator macromolecular assembly.", "journal": "The Journal of biological chemistry", "date": "2007-09-14", "authors": "Li Jianquan, Poulikakos Poulikos I, Dai Zhongping, Testa Joseph R, Callaway David J E, Bu Zimei", "evidence": [ { "database": "iPTMnet", "id": "O14745", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O14745" } ], "reference": [ { "type": "PubMed", "id": "17613530", "url": "https://glygen.org/publication/PubMed/17613530" } ] }, { "title": "Improved titanium dioxide enrichment of phosphopeptides from HeLa cells and high confident phosphopeptide identification by cross-validation of MS/MS and MS/MS/MS spectra.", "journal": "Journal of proteome research", "date": "2007", "authors": "Yu LR, Zhu Z, Chan KC, Issaq HJ, Dimitrov DS, Veenstra TD", "evidence": [ { "database": "UniProtKB", "id": "O14745", "url": "https://www.uniprot.org/uniprot/O14745" }, { "database": "iPTMnet", "id": "O14745-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O14745-1" } ], "reference": [ { "type": "PubMed", "id": "17924679", "url": "https://glygen.org/publication/PubMed/17924679" } ] }, { "title": "Phosphoproteome of resting human platelets.", "journal": "Journal of proteome research", "date": "2008", "authors": "Zahedi RP, Lewandrowski U, Wiesner J, Wortelkamp S, Moebius J, Schutz C, Walter U, Gambaryan S, Sickmann A", "evidence": [ { "database": "UniProtKB", "id": "O14745", "url": 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"date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "iPTMnet", "id": "O14745-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O14745-1" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "title": "Immobilized metal affinity chromatography revisited: pH/acid control toward high selectivity in phosphoproteomics.", "journal": "Journal of proteome research", "date": "2008", "authors": "Tsai CF, Wang YT, Chen YR, Lai CY, Lin PY, Pan KT, Chen JY, Khoo KH, Chen YJ", "evidence": [ { "database": "iPTMnet", "id": "O14745-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O14745-1" } ], "reference": [ { "type": "PubMed", "id": "18707149", "url": "https://glygen.org/publication/PubMed/18707149" } ] }, { "title": "Successive and selective release of phosphorylated peptides captured by hydroxy acid-modified metal 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Mutoh H, Kondoh O, Morimoto S, Inomata N, Ashihara M, Ishii N, Aoki Y, Haramura M", "evidence": [ { "database": "iPTMnet", "id": "O14745-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O14745-1" } ], "reference": [ { "type": "PubMed", "id": "19415658", "url": "https://glygen.org/publication/PubMed/19415658" } ] }, { "title": "MCC, a new interacting protein for Scrib, is required for cell migration in epithelial cells.", "journal": "FEBS Lett.", "date": "2009", "authors": "Arnaud C, Sebbagh M, Nola S, Audebert S, Bidaut G, Hermant A, Gayet O, Dusetti NJ, Ollendorff V, Santoni MJ, Borg JP, Lecine P", "evidence": [ { "database": "UniProtKB", "id": "O14745", "url": "https://www.uniprot.org/uniprot/O14745" } ], "reference": [ { "type": "PubMed", "id": "19555689", "url": "https://glygen.org/publication/PubMed/19555689" } ] }, { "title": "Global effects of kinase inhibitors on signaling networks revealed by quantitative phosphoproteomics.", "journal": "Molecular & cellular 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variants of the SLC34A1 and SLC9A3R1 genes in patients with atypical femur fracture.", "journal": "European journal of endocrinology", "date": "2023-01-10", "authors": "Marini Francesca, Giusti Francesca, Marasco Elena, Xumerle Luciano, Kwiatkowska Katarzyna Malgorzata, Garagnani Paolo, Biver Emmanuel, Ferrari Serge, Iolascon Giovanni, Iantomasi Teresa, Brandi Maria Luisa", "evidence": [ { "database": "RefSeq", "id": "NP_004243", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004243" } ], "reference": [ { "type": "PubMed", "id": "36762943", "url": "https://glygen.org/publication/PubMed/36762943" } ] }, { "title": "cAMP-mediated inhibition of the epithelial brush border Na+/H+ exchanger, NHE3, requires an associated regulatory protein.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1997-04-01", "authors": "Yun C H, Oh S, Zizak M, Steplock D, Tsao S, Tse C M, Weinman E J, Donowitz M", "evidence": [ { "database": "UniProtKB", "id": "O14745", "url": "https://www.uniprot.org/uniprot/O14745" } ], "reference": [ { "type": "PubMed", "id": "9096337", "url": "https://glygen.org/publication/PubMed/9096337" } ] }, { "title": "Identification of EBP50: A PDZ-containing phosphoprotein that associates with members of the ezrin-radixin-moesin family.", "journal": "The Journal of cell biology", "date": "1997", "authors": "Reczek D, Berryman M, Bretscher A", "evidence": [ { "database": "UniProtKB", "id": "O14745", "url": "https://www.uniprot.org/uniprot/O14745" } ], "reference": [ { "type": "PubMed", "id": "9314537", "url": "https://glygen.org/publication/PubMed/9314537" } ] }, { "title": "NHE-RF, a regulatory cofactor for Na(+)-H+ exchange, is a common interactor for merlin and ERM (MERM) proteins.", "journal": "The Journal of biological chemistry", "date": "1998", "authors": "Murthy A, Gonzalez-Agosti C, Cordero E, Pinney D, Candia C, Solomon F, Gusella J, Ramesh V", "evidence": [ { "database": "UniProtKB", "id": 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"O14745", "url": "https://www.uniprot.org/uniprot/O14745" } ], "pmid": "" }, { "name": "renal sodium ion transport", "id": "GO:0003096", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003096", "evidence": [ { "database": "UniProtKB", "id": "O14745", "url": "https://www.uniprot.org/uniprot/O14745" } ], "pmid": "" }, { "name": "glutathione transport", "id": "GO:0034635", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034635", "evidence": [ { "database": "UniProtKB", "id": "O14745", "url": "https://www.uniprot.org/uniprot/O14745" } ], "pmid": "" }, { "name": "renal phosphate ion absorption", "id": "GO:0097291", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097291", "evidence": [ { "database": "UniProtKB", "id": "O14745", "url": "https://www.uniprot.org/uniprot/O14745" } ], "pmid": "" }, { "name": "plasma membrane organization", "id": "GO:0007009", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007009", "evidence": [ { "database": "UniProtKB", "id": "O14745", "url": "https://www.uniprot.org/uniprot/O14745" } ], "pmid": "" }, { "name": "negative regulation of cell population proliferation", "id": "GO:0008285", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008285", "evidence": [ { "database": "UniProtKB", "id": "O14745", "url": "https://www.uniprot.org/uniprot/O14745" } ], "pmid": "" }, { "name": "establishment of epithelial cell apical/basal polarity", "id": "GO:0045198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045198", "evidence": [ { "database": "UniProtKB", "id": "O14745", "url": "https://www.uniprot.org/uniprot/O14745" } ], "pmid": "" }, { "name": "protein localization to plasma membrane", "id": "GO:0072659", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072659", "evidence": [ { "database": "UniProtKB", "id": "O14745", "url": "https://www.uniprot.org/uniprot/O14745" } ], "pmid": "" }, { "name": "negative regulation of canonical Wnt signaling pathway", "id": "GO:0090090", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090090", "evidence": [ { "database": "UniProtKB", "id": "O14745", "url": "https://www.uniprot.org/uniprot/O14745" } ], "pmid": "" }, { "name": "actin cytoskeleton organization", "id": "GO:0030036", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030036", "evidence": [ { "database": "UniProtKB", "id": "O14745", "url": "https://www.uniprot.org/uniprot/O14745" } ], "pmid": "" }, { "name": "negative regulation of mitotic cell cycle", "id": "GO:0045930", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045930", "evidence": [ { "database": "UniProtKB", "id": "O14745", "url": "https://www.uniprot.org/uniprot/O14745" } ], "pmid": "" }, { "name": "negative regulation of ERK1 and ERK2 cascade", "id": "GO:0070373", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070373", "evidence": [ { "database": "UniProtKB", "id": "O14745", "url": "https://www.uniprot.org/uniprot/O14745" } ], "pmid": "" }, { "name": "Wnt signaling pathway", "id": "GO:0016055", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016055", "evidence": [ { "database": "UniProtKB", "id": "O14745", "url": "https://www.uniprot.org/uniprot/O14745" } ], "pmid": "" }, { "name": "establishment of Golgi localization", "id": "GO:0051683", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051683", "evidence": [ { "database": "UniProtKB", "id": "O14745", "url": "https://www.uniprot.org/uniprot/O14745" } ], "pmid": "" }, { "name": "sensory perception of sound", "id": "GO:0007605", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007605", "evidence": [ { "database": "UniProtKB", "id": "O14745", "url": "https://www.uniprot.org/uniprot/O14745" } ], "pmid": "" }, { "name": "regulation of cell shape", "id": "GO:0008360", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008360", "evidence": [ { "database": "UniProtKB", "id": "O14745", "url": "https://www.uniprot.org/uniprot/O14745" } ], "pmid": "" }, { "name": "negative regulation of platelet-derived growth factor receptor signaling pathway", "id": "GO:0010642", "url": 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{ "name": "maintenance of epithelial cell apical/basal polarity", "id": "GO:0045199", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045199", "evidence": [ { "database": "UniProtKB", "id": "O14745", "url": "https://www.uniprot.org/uniprot/O14745" } ], "pmid": "" }, { "name": "negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction", "id": "GO:0051898", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051898", "evidence": [ { "database": "UniProtKB", "id": "O14745", "url": "https://www.uniprot.org/uniprot/O14745" } ], "pmid": "" }, { "name": "renal absorption", "id": "GO:0070293", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070293", "evidence": [ { "database": "UniProtKB", "id": "O14745", "url": "https://www.uniprot.org/uniprot/O14745" } ], "pmid": "" }, { "name": "fibroblast migration", "id": "GO:0010761", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010761", "evidence": [ { "database": "UniProtKB", "id": "O14745", "url": "https://www.uniprot.org/uniprot/O14745" } ], "pmid": "" }, { "name": "auditory receptor cell stereocilium organization", "id": "GO:0060088", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060088", "evidence": [ { "database": "UniProtKB", "id": "O14745", "url": "https://www.uniprot.org/uniprot/O14745" } ], "pmid": "" }, { "name": "negative regulation of sodium ion transport", "id": "GO:0010766", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010766", "evidence": [ { "database": "UniProtKB", "id": "O14745", "url": "https://www.uniprot.org/uniprot/O14745" } ], "pmid": "" }, { "name": "cilium organization", "id": "GO:0044782", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044782", "evidence": [ { "database": "UniProtKB", "id": "O14745", "url": "https://www.uniprot.org/uniprot/O14745" } ], "pmid": "" }, { "name": "gamma-aminobutyric acid import", "id": "GO:0051939", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051939", "evidence": [ { "database": "UniProtKB", "id": "O14745", "url": "https://www.uniprot.org/uniprot/O14745" } ], "pmid": "" }, { "name": "gland morphogenesis", "id": "GO:0022612", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022612", "evidence": [ { "database": "UniProtKB", "id": "O14745", "url": "https://www.uniprot.org/uniprot/O14745" } ], "pmid": "" }, { "name": "morphogenesis of an epithelium", "id": "GO:0002009", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002009", "evidence": [ { "database": "UniProtKB", "id": "O14745", "url": "https://www.uniprot.org/uniprot/O14745" } ], "pmid": "" }, { "name": "nuclear migration", "id": "GO:0007097", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007097", "evidence": [ { "database": "UniProtKB", "id": "O14745", "url": "https://www.uniprot.org/uniprot/O14745" } ], "pmid": "" }, { "name": "regulation of protein kinase activity", "id": "GO:0045859", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045859", "evidence": [ { "database": "UniProtKB", "id": "O14745", "url": "https://www.uniprot.org/uniprot/O14745" 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