{ "uniprot_canonical_ac": "Q06945-1", "uniprot_ac": "Q06945", "uniprot_id": "SOX4_HUMAN", "mass": { "chemical_mass": 47263.0, "monoisotopic_mass": 47263.0 }, "refseq": { "ac": "NP_003098", "name": "transcription factor SOX-4", "summary": "This intronless gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins, such as syndecan binding protein (syntenin). The protein may function in the apoptosis pathway leading to cell death as well as to tumorigenesis and may mediate downstream effects of parathyroid hormone (PTH) and PTH-related protein (PTHrP) in bone development. The solution structure has been resolved for the HMG-box of a similar mouse protein. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003098" }, "gene_names": [ { "name": "SOX4", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/Q06945", "id": "Q06945" }, { "name": "CSS10; EVI16", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003098", "id": "NP_003098" }, { "name": "SOX4", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003098", "id": "NP_003098" } ], "protein_names": [ { "name": "Transcription factor SOX-4", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "Q06945" }, { "name": "SRY-related HMG-box gene 4; ecotropic viral integration site 16; SRY (sex determining region Y)-box 4; SRY-box 4", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003098", "id": "NP_003098" }, { "name": "transcription factor SOX-4", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003098", "id": "NP_003098" } ], "function": [ { "annotation": "CircSOX4 Enhances Hepatocellular Carcinoma Progression via miR-218-5p/YY1 Signaling. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_003098", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003098" }, { "database": "PubMed", "id": "37143506", "url": "https://glygen.org/publication/PubMed/37143506" } ] }, { "annotation": "Novel Variants of SOX4 in Patients with Intellectual Disability. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_003098", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003098" }, { "database": "PubMed", "id": "36834931", "url": "https://glygen.org/publication/PubMed/36834931" } ] }, { "annotation": "PLAC8 contributes to the malignant behaviors of cervical cancer cells by activating the SOX4-mediated AKT pathway.", "evidence": [ { "database": "RefSeq", "id": "NP_003098", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003098" }, { "database": "PubMed", "id": "36602585", "url": "https://glygen.org/publication/PubMed/36602585" } ] }, { "annotation": "SOX4 is a novel phenotypic regulator of endothelial cells in atherosclerosis revealed by single-cell analysis.", "evidence": [ { "database": "RefSeq", "id": "NP_003098", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003098" }, { "database": "PubMed", "id": "36585108", "url": "https://glygen.org/publication/PubMed/36585108" } ] }, { "annotation": "Temozolomide protects against the progression of glioblastoma via SOX4 downregulation by inhibiting the LINC00470-mediated transcription factor EGR2. Erratum:[CNS Neurosci Ther. 2023 Jun 22;:. PMID: 37349972]", "evidence": [ { "database": "RefSeq", "id": "NP_003098", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003098" }, { "database": "PubMed", "id": "36987665", "url": "https://glygen.org/publication/PubMed/36987665" } ] }, { "annotation": "This intronless gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins, such as syndecan binding protein (syntenin). The protein may function in the apoptosis pathway leading to cell death as well as to tumorigenesis and may mediate downstream effects of parathyroid hormone (PTH) and PTH-related protein (PTHrP) in bone development. The solution structure has been resolved for the HMG-box of a similar mouse protein. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_003098", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003098" } ] }, { "annotation": "Transcriptional activator that binds with high affinity to the T-cell enhancer motif 5'-AACAAAG-3' motif (PubMed:30661772). Required for IL17A-producing Vgamma2-positive gamma-delta T-cell maturation and development, via binding to regulator loci of RORC to modulate expression (By similarity). Involved in skeletal myoblast differentiation by promoting gene expression of CALD1 (PubMed:26291311).", "evidence": [ { "database": "UniProtKB", "id": "Q06945", "url": "https://www.uniprot.org/uniprot/Q06945#function" }, { "database": "UniProtKB", "id": "Q06831", "url": "https://www.uniprot.org/uniprot/Q06831#function" }, { "database": "PubMed", "id": "30661772", "url": "https://glygen.org/publication/PubMed/30661772" }, { "database": "PubMed", "id": "26291311", "url": "https://glygen.org/publication/PubMed/26291311" } ] } ], "disease": [ { "disease_id": "DOID:0112371", "recommended_name": { "id": "DOID:0112371", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112371", "name": "Coffin-Siris syndrome 10", "description": "A Coffin-Siris syndrome characterized by mild to severe intellectual disability, global developmental delay, mild but distinct facial dysmorphism, fifth finger clinodactyly, and small stature that has_material_basis_in heterozygous mutation in the SOX4 gene on chromosome 6p22.3." }, "synonyms": [ { "id": "DOID:0112371", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112371", "name": "CSS10", "description": "" }, { "id": "MONDO:0032791", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0032791", "name": "Coffin-Siris syndrome 10", "description": "" }, { "id": "MONDO:0032791", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0032791", "name": "COFFIN-SIRIS SYNDROME 10", "description": "" }, { "id": "MONDO:0032791", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0032791", "name": "CSS10", "description": "" }, { "id": "MIM:618506", "resource": "MIM", "url": "https://www.omim.org/entry/618506", "name": "Intellectual developmental disorder with speech delay and dysmorphic facies", "description": "Intellectual developmental disorder with speech delay and dysmorphic facies" } ], "evidence": [ { "id": "618506", "database": "MIM", "url": "https://www.omim.org/entry/618506" } ] } ], "snv": [], "mutagenesis": [ { "start_pos": 45, "end_pos": 45, "sequence_org": "K", "sequence_mut": "R", "comment": "Does not affect acetylation by KAT5.", "evidence": [ { "database": "UniProtKB", "id": "Q06945", "url": "https://www.uniprot.org/uniprot/Q06945" }, { "database": "PubMed", "id": "26291311", "url": "https://glygen.org/publication/PubMed/26291311" } ] }, { "start_pos": 95, "end_pos": 95, "sequence_org": "K", "sequence_mut": "R", "comment": "Abolished acetylation by KAT5.", "evidence": [ { "database": "UniProtKB", "id": "Q06945", "url": "https://www.uniprot.org/uniprot/Q06945" }, { "database": "PubMed", "id": "26291311", "url": "https://glygen.org/publication/PubMed/26291311" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "84.14", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000124766", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000124766" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "88.21", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000124766", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000124766" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "86", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000124766", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000124766" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "94.62", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000124766", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000124766" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "76.45", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000124766", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000124766" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "85.05", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000124766", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000124766" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "91.53", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000124766", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000124766" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "84.98", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000124766", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000124766" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "81.59", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000124766", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000124766" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "94.51", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000124766", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000124766" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "71.54", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000124766", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000124766" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "77.96", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000124766", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000124766" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "86.97", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000124766", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000124766" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "Q06945", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q06945" } ], "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, 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"https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "Q06945", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q06945" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "Q06945", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q06945" } ], "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 bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "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": "up", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "Q06945", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q06945" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q06945" } ], "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": 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"https://www.uniprot.org/uniprot/Q06945-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MVQQTNNAENTEALLAGESSDSGAGLELGIASSPTPGSTASTGGKADDPSWCKTPSGHIKRPMNAFMVWSQIERRKIMEQSPDMHNAEISKRLGKRWKLLKDSDKIPFIREAERLRLKHMADYPDYKYRPRKKVKSGNANSSSSAAASSKPGEKGDKVGGSGGGGHGGGGGGGSSNAGGGGGGASGGGANSKPAQKKSCGSKVAGGAGGGVSKPHAKLILAGGGGGGKAAAAAAASFAAEQAGAAALLPLGAAADHHSLYKARTPSASASASSAASASAALAAPGKHLAEKKVKRVYLFGGLGTSSSPVGGVGAGADPSDPLGLYEEEGAGCSPDAPSLSGRSSAASSPAAGRSPADHRGYASLRAASPAPSSAPSHASSSASSHSSSSSSSGSSSSDDEFEDDLLDLNPSSNFESMSLGSFSSSSALDRDLDFNFEPGSGSHFEFPDYCTPEVSEMISGDWLESSISNLVFTY", "length": 474, "header": "sp|Q06945-1|SOX4_HUMAN Isoform 1 of Transcription factor SOX-4 OS=Homo sapiens OX=9606 GN=SOX4 PE=1 SV=1 CANONICAL=Q06945-1" }, "isoforms": [ { "isoform_ac": "Q06945-1", "url": "", "sequence": { "sequence": "MVQQTNNAENTEALLAGESSDSGAGLELGIASSPTPGSTASTGGKADDPSWCKTPSGHIKRPMNAFMVWSQIERRKIMEQSPDMHNAEISKRLGKRWKLLKDSDKIPFIREAERLRLKHMADYPDYKYRPRKKVKSGNANSSSSAAASSKPGEKGDKVGGSGGGGHGGGGGGGSSNAGGGGGGASGGGANSKPAQKKSCGSKVAGGAGGGVSKPHAKLILAGGGGGGKAAAAAAASFAAEQAGAAALLPLGAAADHHSLYKARTPSASASASSAASASAALAAPGKHLAEKKVKRVYLFGGLGTSSSPVGGVGAGADPSDPLGLYEEEGAGCSPDAPSLSGRSSAASSPAAGRSPADHRGYASLRAASPAPSSAPSHASSSASSHSSSSSSSGSSSSDDEFEDDLLDLNPSSNFESMSLGSFSSSSALDRDLDFNFEPGSGSHFEFPDYCTPEVSEMISGDWLESSISNLVFTY", "length": 474, "header": "sp|Q06945-1|SOX4_HUMAN Isoform 1 of Transcription factor SOX-4 OS=Homo sapiens OX=9606 GN=SOX4 PE=1 SV=1 CANONICAL=Q06945-1" }, "locus": { "chromosome": "6", "start_pos": 21595956, "end_pos": 21594535, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000244745.4", "url": "https://www.ensembl.org/id/ENST00000244745.4" }, { "database": "Ensembl Peptide", "id": "ENSP00000244745.1", "url": "https://www.ensembl.org/id/ENSP00000244745.1" } ] } } ], "glycosylation": [], "phosphorylation": [ { "start_pos": 161, "end_pos": 161, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q06945", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q06945" }, { "database": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" } ], "site_lbl": "Ser161" }, { "start_pos": 175, "end_pos": 175, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q06945", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q06945" }, { "database": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" } ], "site_lbl": "Ser175" }, { "start_pos": 185, "end_pos": 185, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q06945", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q06945" }, { "database": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" } ], "site_lbl": "Ser185" }, { "start_pos": 307, "end_pos": 307, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q06945", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q06945" }, { "database": "PubMed", "id": "15345747", "url": "https://glygen.org/publication/PubMed/15345747" } ], "site_lbl": "Ser307" } ], "glycation": [], "keywords": [], "publication": [ { "title": "Regulation of Wnt signaling by Sox proteins: XSox17 alpha/beta and XSox3 physically interact with beta-catenin.", "journal": "Molecular cell", "date": "1999", "authors": "Zorn AM, Barish GD, Williams BO, Lavender P, Klymkowsky MW, Varmus HE", "evidence": [ { "database": "Reactome", "id": "R-HSA-3769402", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3769402" } ], "reference": [ { "type": "PubMed", "id": "10549281", "url": "https://glygen.org/publication/PubMed/10549281" } ] }, { "title": "Inhibition of Wnt signaling by ICAT, a novel beta-catenin-interacting protein.", "journal": "Genes & development", "date": "2000", "authors": "Tago K, Nakamura T, Nishita M, Hyodo J, Nagai S, Murata Y, Adachi S, Ohwada S, Morishita Y, Shibuya H, Akiyama T", "evidence": [ { "database": "Reactome", "id": "R-HSA-3769402", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3769402" } ], "reference": [ { "type": "PubMed", "id": "10898789", "url": "https://glygen.org/publication/PubMed/10898789" } ] }, { "title": "A novel beta-catenin-binding protein inhibits beta-catenin-dependent Tcf activation and axis formation.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Sakamoto I, Kishida S, Fukui A, Kishida M, Yamamoto H, Hino S, Michiue T, Takada S, Asashima M, Kikuchi A", "evidence": [ { "database": "Reactome", "id": "R-HSA-3769402", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3769402" } ], "reference": [ { "type": "PubMed", "id": "10921920", "url": "https://glygen.org/publication/PubMed/10921920" } ] }, { "title": "Inhibition of Wnt signaling pathway by a novel axin-binding protein.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Kadoya T, Kishida S, Fukui A, Hinoi T, Michiue T, Asashima M, Kikuchi A", "evidence": [ { "database": "Reactome", "id": "R-HSA-3769402", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3769402" } ], "reference": [ { "type": "PubMed", "id": "10944533", "url": "https://glygen.org/publication/PubMed/10944533" } ] }, { "title": "SOX7 transcription factor: sequence, chromosomal localisation, expression, transactivation and interference with Wnt signalling.", "journal": "Nucleic acids research", "date": "2001", "authors": "Takash W, Canizares J, Bonneaud N, Poulat F, Mattei MG, Jay P, Berta P", "evidence": [ { "database": "Reactome", "id": "R-HSA-3769402", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3769402" } ], "reference": [ { "type": "PubMed", "id": "11691915", "url": "https://glygen.org/publication/PubMed/11691915" } ] }, { "title": "The crystal structure of the beta-catenin/ICAT complex reveals the inhibitory mechanism of ICAT.", "journal": "Molecular cell", "date": "2002", "authors": "Graham TA, Clements WK, Kimelman D, Xu W", "evidence": [ { "database": "Reactome", "id": "R-HSA-3769402", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3769402" } ], "reference": [ { "type": "PubMed", "id": "12408824", "url": "https://glygen.org/publication/PubMed/12408824" } ] }, { "title": "ICAT inhibits beta-catenin binding to Tcf/Lef-family transcription factors and the general coactivator p300 using independent structural modules.", "journal": "Molecular cell", "date": "2002", "authors": "Daniels DL, Weis WI", "evidence": [ { "database": "Reactome", "id": "R-HSA-3769402", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3769402" } ], "reference": [ { "type": "PubMed", "id": "12408825", "url": "https://glygen.org/publication/PubMed/12408825" } ] }, { "title": "Chibby, a nuclear beta-catenin-associated antagonist of the Wnt/Wingless pathway.", "journal": "Nature", "date": "2003", "authors": "Takemaru K, Yamaguchi S, Lee YS, Zhang Y, Carthew RW, Moon RT", "evidence": [ { "database": "Reactome", "id": "R-HSA-3769402", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3769402" } ], "reference": [ { "type": "PubMed", "id": "12712206", "url": "https://glygen.org/publication/PubMed/12712206" } ] }, { "title": "Crystal structure of a beta-catenin/axin complex suggests a mechanism for the beta-catenin destruction complex.", "journal": "Genes & development", "date": "2003", "authors": "Xing Y, Clements WK, Kimelman D, Xu W", "evidence": [ { "database": "Reactome", "id": "R-HSA-3769402", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3769402" } ], "reference": [ { "type": "PubMed", "id": "14600025", "url": "https://glygen.org/publication/PubMed/14600025" } ] }, { "title": "A novel role for XIAP in copper homeostasis through regulation of MURR1.", "journal": "The EMBO journal", "date": "2004", "authors": "Burstein E, Ganesh L, Dick RD, van De Sluis B, Wilkinson JC, Klomp LW, Wijmenga C, Brewer GJ, Nabel GJ, Duckett CS", "evidence": [ { "database": "Reactome", "id": "R-HSA-3769402", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3769402" } ], "reference": [ { "type": "PubMed", "id": "14685266", "url": "https://glygen.org/publication/PubMed/14685266" } ] }, { "title": "Interactions between Sox9 and beta-catenin control chondrocyte differentiation.", "journal": "Genes & development", "date": "2004", "authors": "Akiyama H, Lyons JP, Mori-Akiyama Y, Yang X, Zhang R, Zhang Z, Deng JM, Taketo MM, Nakamura T, Behringer RR, McCrea PD, de Crombrugghe B", "evidence": [ { "database": "Reactome", "id": "R-HSA-3769402", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3769402" } ], "reference": [ { "type": "PubMed", "id": "15132997", "url": "https://glygen.org/publication/PubMed/15132997" } ] }, { "title": "Crystal structure of a beta-catenin/APC complex reveals a critical role for APC phosphorylation in APC function.", "journal": "Molecular cell", "date": "2004", "authors": "Xing Y, Clements WK, Le Trong I, Hinds TR, Stenkamp R, Kimelman D, Xu W", "evidence": [ { "database": "Reactome", "id": "R-HSA-3769402", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3769402" } ], "reference": [ { "type": "PubMed", "id": "15327769", "url": "https://glygen.org/publication/PubMed/15327769" } ] }, { "title": "Phosphoproteomic analysis of the developing mouse brain.", "journal": "Molecular & cellular proteomics : MCP", "date": "2004", "authors": "Ballif BA, Villen J, Beausoleil SA, Schwartz D, Gygi SP", "evidence": [ { "database": "iPTMnet", "id": "Q06945", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q06945" } ], "reference": [ { "type": "PubMed", "id": "15345747", "url": "https://glygen.org/publication/PubMed/15345747" } ] }, { "title": "The APC tumor suppressor binds to C-terminal binding protein to divert nuclear beta-catenin from TCF.", "journal": "Developmental cell", "date": "2004", "authors": "Hamada F, Bienz M", "evidence": [ { "database": "Reactome", "id": "R-HSA-3769402", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3769402" } ], "reference": [ { "type": "PubMed", "id": "15525529", "url": "https://glygen.org/publication/PubMed/15525529" } ] }, { "title": "A conserved family of genes related to the testis determining gene, SRY.", "journal": "Nucleic Acids Res.", "date": "1992", "authors": "Denny P., Ashworth A., Swift S., Brand N., Barton P., Dabhade N.", "evidence": [ { "database": "UniProtKB", "id": "Q06945", "url": "https://www.uniprot.org/uniprot/Q06945" } ], "reference": [ { "type": "PubMed", "id": "1614875", "url": "https://glygen.org/publication/PubMed/1614875" } ] }, { "title": "The APC tumor suppressor counteracts beta-catenin activation and H3K4 methylation at Wnt target genes.", "journal": "Genes & development", "date": "2006", "authors": "Sierra J, Yoshida T, Joazeiro CA, Jones KA", "evidence": [ { "database": "Reactome", "id": "R-HSA-3769402", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3769402" } ], "reference": [ { "type": "PubMed", "id": "16510874", "url": "https://glygen.org/publication/PubMed/16510874" } ] }, { "title": "Ubc9 interacts with SOX4 and represses its transcriptional activity.", "journal": "Biochem. Biophys. Res. Commun.", "date": "2006", "authors": "Gong W., Li H., Liu H., Tian L., Zhang P., Zhang X., Li W., Zhou T., Zhao J., Jin B., Su G., Pan X., Man J.", "evidence": [ { "database": "UniProtKB", "id": "Q06945", "url": "https://www.uniprot.org/uniprot/Q06945" } ], "reference": [ { "type": "PubMed", "id": "16631117", "url": "https://glygen.org/publication/PubMed/16631117" } ] }, { "title": "Regulation of gammadelta versus alphabeta T lymphocyte differentiation by the transcription factor SOX13.", "journal": "Science (New York, N.Y.)", "date": "2007", "authors": "Melichar HJ, Narayan K, Der SD, Hiraoka Y, Gardiol N, Jeannet G, Held W, Chambers CA, Kang J", "evidence": [ { "database": "Reactome", "id": "R-HSA-3769402", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3769402" } ], "reference": [ { "type": "PubMed", "id": "17218525", "url": "https://glygen.org/publication/PubMed/17218525" } ] }, { "title": "SOX6 suppresses cyclin D1 promoter activity by interacting with beta-catenin and histone deacetylase 1, and its down-regulation induces pancreatic beta-cell proliferation.", "journal": "The Journal of biological chemistry", "date": "2007", "authors": "Iguchi H, Urashima Y, Inagaki Y, Ikeda Y, Okamura M, Tanaka T, Uchida A, Yamamoto TT, Kodama T, Sakai J", "evidence": [ { "database": "Reactome", "id": "R-HSA-3769402", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3769402" } ], "reference": [ { "type": "PubMed", "id": "17412698", "url": "https://glygen.org/publication/PubMed/17412698" } ] }, { "title": "Sox9 regulates cell proliferation and is required for Paneth cell differentiation in the intestinal epithelium.", "journal": "The Journal of cell biology", "date": "2007", "authors": "Bastide P, Darido C, Pannequin J, Kist R, Robine S, Marty-Double C, Bibeau F, Scherer G, Joubert D, Hollande F, Blache P, Jay P", "evidence": [ { "database": "Reactome", "id": "R-HSA-3769402", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3769402" } ], "reference": [ { "type": "PubMed", "id": "17698607", "url": "https://glygen.org/publication/PubMed/17698607" } ] }, { "title": "Sox17 and Sox4 differentially regulate beta-catenin/T-cell factor activity and proliferation of colon carcinoma cells.", "journal": "Molecular and cellular biology", "date": "2007", "authors": "Sinner D, Kordich JJ, Spence JR, Opoka R, Rankin S, Lin SC, Jonatan D, Zorn AM, Wells JM", "evidence": [ { "database": "Reactome", "id": "R-HSA-3769402", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3769402" } ], "reference": [ { "type": "PubMed", "id": "17875931", "url": "https://glygen.org/publication/PubMed/17875931" } ] }, { "title": "CHD8 is an ATP-dependent chromatin remodeling factor that regulates beta-catenin target genes.", "journal": "Molecular and cellular biology", "date": "2008", "authors": "Thompson BA, Tremblay V, Lin G, Bochar DA", "evidence": [ { "database": "Reactome", "id": "R-HSA-3769402", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3769402" } ], "reference": [ { "type": "PubMed", "id": "18378692", "url": "https://glygen.org/publication/PubMed/18378692" } ] }, { "title": "Motif-specific sampling of phosphoproteomes.", "journal": "Journal of proteome research", "date": "2008", "authors": "Ruse CI, McClatchy DB, Lu B, Cociorva D, Motoyama A, Park SK, Yates JR 3rd", "evidence": [ { "database": "iPTMnet", "id": "Q06945", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q06945" } ], "reference": [ { "type": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" } ] }, { "title": "The molecular mechanism governing the oncogenic potential of SOX2 in breast cancer.", "journal": "The Journal of biological chemistry", "date": "2008", "authors": "Chen Y, Shi L, Zhang L, Li R, Liang J, Yu W, Sun L, Yang X, Wang Y, Zhang Y, Shang Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-3769402", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3769402" } ], "reference": [ { "type": "PubMed", "id": "18456656", "url": "https://glygen.org/publication/PubMed/18456656" } ] }, { "title": "Chibby cooperates with 14-3-3 to regulate beta-catenin subcellular distribution and signaling activity.", "journal": "The Journal of cell biology", "date": "2008", "authors": "Li FQ, Mofunanya A, Harris K, Takemaru K", "evidence": [ { "database": "Reactome", "id": "R-HSA-3769402", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3769402" } ], "reference": [ { "type": "PubMed", "id": "18573912", "url": "https://glygen.org/publication/PubMed/18573912" } ] }, { "title": "Human SRY inhibits beta-catenin-mediated transcription.", "journal": "The international journal of biochemistry & cell biology", "date": "2008", "authors": "Bernard P, Sim H, Knower K, Vilain E, Harley V", "evidence": [ { "database": "Reactome", "id": "R-HSA-3769402", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3769402" } ], "reference": [ { "type": "PubMed", "id": "18598779", "url": "https://glygen.org/publication/PubMed/18598779" } ] }, { "title": "Sox7 Is an independent checkpoint for beta-catenin function in prostate and colon epithelial cells.", "journal": "Molecular cancer research : MCR", "date": "2008", "authors": "Guo L, Zhong D, Lau S, Liu X, Dong XY, Sun X, Yang VW, Vertino PM, Moreno CS, Varma V, Dong JT, Zhou W", "evidence": [ { "database": "Reactome", "id": "R-HSA-3769402", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3769402" } ], "reference": [ { "type": "PubMed", "id": "18819930", "url": "https://glygen.org/publication/PubMed/18819930" } ] }, { "title": "Sox9 inhibits Wnt signaling by promoting beta-catenin phosphorylation in the nucleus.", "journal": "The Journal of biological chemistry", "date": "2009", "authors": "Topol L, Chen W, Song H, Day TF, Yang Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-3769402", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3769402" } ], "reference": [ { "type": "PubMed", "id": "19047045", "url": "https://glygen.org/publication/PubMed/19047045" } ] }, { "title": "Inactivation of Chibby affects function of motile airway cilia.", "journal": "The Journal of cell biology", "date": "2009", "authors": "Voronina VA, Takemaru K, Treuting P, Love D, Grubb BR, Hajjar AM, Adams A, Li FQ, Moon RT", "evidence": [ { "database": "Reactome", "id": "R-HSA-3769402", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3769402" } ], "reference": [ { "type": "PubMed", "id": "19364920", "url": "https://glygen.org/publication/PubMed/19364920" } ] }, { "title": "XIAP as a ubiquitin ligase in cellular signaling.", "journal": "Cell death and differentiation", "date": "2010", "authors": "Galban S, Duckett CS", "evidence": [ { "database": "Reactome", "id": "R-HSA-3769402", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3769402" } ], "reference": [ { "type": "PubMed", "id": "19590513", "url": "https://glygen.org/publication/PubMed/19590513" } ] }, { "title": "Nuclear APC.", "journal": "Advances in experimental medicine and biology", "date": "2009", "authors": "Neufeld KL", "evidence": [ { "database": "Reactome", "id": "R-HSA-3769402", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3769402" } ], "reference": [ { "type": "PubMed", "id": "19928349", "url": "https://glygen.org/publication/PubMed/19928349" } ] }, { "title": "Nuclear-cytoplasmic shuttling of Chibby controls beta-catenin signaling.", "journal": "Molecular biology of the cell", "date": "2010", "authors": "Li FQ, Mofunanya A, Fischer V, Hall J, Takemaru K", "evidence": [ { "database": "Reactome", "id": "R-HSA-3769402", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3769402" } ], "reference": [ { "type": "PubMed", "id": "19940019", "url": "https://glygen.org/publication/PubMed/19940019" } ] }, { "title": "XIAP monoubiquitylates Groucho/TLE to promote canonical Wnt signaling.", "journal": "Molecular cell", "date": "2012", "authors": "Hanson AJ, Wallace HA, Freeman TJ, Beauchamp RD, Lee LA, Lee E", "evidence": [ { "database": "Reactome", "id": "R-HSA-3769402", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3769402" } ], "reference": [ { "type": "PubMed", "id": "22304967", "url": "https://glygen.org/publication/PubMed/22304967" } ] }, { "title": "beta-Catenin, a Sox2 binding partner, regulates the DNA binding and transcriptional activity of Sox2 in breast cancer cells.", "journal": "Cellular signalling", "date": "2014", "authors": "Ye X, Wu F, Wu C, Wang P, Jung K, Gopal K, Ma Y, Li L, Lai R", "evidence": [ { "database": "Reactome", "id": "R-HSA-3769402", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3769402" } ], "reference": [ { "type": "PubMed", "id": "24291232", "url": "https://glygen.org/publication/PubMed/24291232" } ] }, { "title": "KAT5-mediated SOX4 acetylation orchestrates chromatin remodeling during myoblast differentiation.", "journal": "Cell Death Dis.", "date": "2015", "authors": "Jang SM, Kim JW, Kim CH, An JH, Johnson A, Song PI, Rhee S, Choi KH", "evidence": [ { "database": "UniProtKB", "id": "Q06945", "url": "https://www.uniprot.org/uniprot/Q06945" } ], "reference": [ { "type": "PubMed", "id": "26291311", "url": "https://glygen.org/publication/PubMed/26291311" } ] }, { "title": "De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated with Mild Dysmorphism.", "journal": "Am. J. Hum. Genet.", "date": "2019", "authors": "Zawerton A, Yao B, Yeager JP, Pippucci T, Haseeb A, Smith JD, Wischmann L, Kuhl SJ, Dean JCS, Pilz DT, Holder SE, McNeill A, Graziano C, Lefebvre V", "evidence": [ { "database": "UniProtKB", "id": "Q06945", "url": "https://www.uniprot.org/uniprot/Q06945" } ], "reference": [ { "type": "PubMed", "id": "30661772", "url": "https://glygen.org/publication/PubMed/30661772" } ] }, { "title": "The 9aaTAD Activation Domains in the Yamanaka Transcription Factors Oct4, Sox2, Myc, and Klf4.", "journal": "Stem. Cell. Rev. Rep.", "date": "2021", "authors": "Piskacek M., Knight A., Otasevic T., Repko M.", "evidence": [ { "database": "UniProtKB", "id": "Q06945", "url": "https://www.uniprot.org/uniprot/Q06945" } ], "reference": [ { "type": "PubMed", "id": "34342803", "url": "https://glygen.org/publication/PubMed/34342803" } ] }, { "title": "SOX4 is a novel phenotypic regulator of endothelial cells in atherosclerosis revealed by single-cell analysis.", "journal": "Journal of advanced research", "date": "2023-01", "authors": "Cheng Chak Kwong, Lin Xiao, Pu Yujie, Tse Joyce Ka Yu, Wang Yu, Zhang Cheng-Lin, Cao Xiaoyun, Lau Chi Wai, Huang Juan, He Lei, Luo Jiang-Yun, Shih Yu-Tsung, Wan Song, Ng Chi Fai, Wang Li, Ma Ronald Ching Wan, Chiu Jeng-Jiann, Chan Ting Fung, Yu Tian Xiao, Huang Yu", "evidence": [ { "database": "RefSeq", "id": "NP_003098", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003098" } ], "reference": [ { "type": "PubMed", "id": "36585108", "url": "https://glygen.org/publication/PubMed/36585108" } ] }, { "title": "PLAC8 contributes to the malignant behaviors of cervical cancer cells by activating the SOX4-mediated AKT pathway.", "journal": "Histochemistry and cell biology", "date": "2023-01-05", "authors": "Deng Boya, Zhang Siyang, Zhou Yingying, Zhu Ying, Fei Jing, Li Ailin", "evidence": [ { "database": "RefSeq", "id": "NP_003098", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003098" } ], "reference": [ { "type": "PubMed", "id": "36602585", "url": "https://glygen.org/publication/PubMed/36602585" } ] }, { "title": "Novel Variants of SOX4 in Patients with Intellectual Disability.", "journal": "International journal of molecular sciences", "date": "2023-02-09", "authors": "Grosse Martin, Kuechler Alma, Dabir Tabib, Spranger Stephanie, Beck-W\u00f6dl Stefanie, Bertrand Miriam, Haack Tobias B, Grasemann Corinna, Manka Eva, Depienne Christel, Kaiser Frank J", "evidence": [ { "database": "RefSeq", "id": "NP_003098", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003098" } ], "reference": [ { "type": "PubMed", "id": "36834931", "url": "https://glygen.org/publication/PubMed/36834931" } ] }, { "title": "Temozolomide protects against the progression of glioblastoma via SOX4 downregulation by inhibiting the LINC00470-mediated transcription factor EGR2.", "journal": "CNS neuroscience & therapeutics", "date": "2023-08", "authors": "Li Wenyang, Wang Ming, Ma Wenjia, Liu Ping, Zhang Mingming, He Jiarong, Cui Yan", "evidence": [ { "database": "RefSeq", "id": "NP_003098", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003098" } ], "reference": [ { "type": "PubMed", "id": "36987665", "url": "https://glygen.org/publication/PubMed/36987665" } ] }, { "title": "circSOX4 Enhances Hepatocellular Carcinoma Progression via miR-218-5p/YY1 Signaling.", "journal": "BioMed research international", "date": "2023", "authors": "Jia Tengfei, Wang Li, Zhang Wenbin, Hu Yuting, Tuerxun Kamili", "evidence": [ { "database": "RefSeq", "id": "NP_003098", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003098" } ], "reference": [ { "type": "PubMed", "id": "37143506", "url": "https://glygen.org/publication/PubMed/37143506" } ] }, { "title": "Characterization and mapping of the human SOX4 gene.", "journal": "Mamm. Genome", "date": "1993", "authors": "Farr CJ, Easty DJ, Ragoussis J, Collignon J, Lovell-Badge R, Goodfellow PN", "evidence": [ { "database": "UniProtKB", "id": "Q06945", "url": "https://www.uniprot.org/uniprot/Q06945" } ], "reference": [ { "type": "PubMed", "id": "8268656", "url": "https://glygen.org/publication/PubMed/8268656" } ] } ], "pathway": [ { "id": "hsa:6659", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:6659", "resource": "KEGG Pathway" }, { "id": "R-HSA-3769402", "name": "Deactivation of the beta-catenin transactivating complex", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3769402", "resource": "Reactome", "description": "Deactivation of the beta-catenin transactivating complex" } ], "orthologs": [ { "uniprot_canonical_ac": "Q06831-1", "protein_name": "Transcription factor SOX-4", "gene_name": "Sox4", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": 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"database": "UniProtKB", "id": "Q06945", "url": "https://www.uniprot.org/uniprot/Q06945" } ], "pmid": "" }, { "name": "spinal cord development", "id": "GO:0021510", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021510", "evidence": [ { "database": "UniProtKB", "id": "Q06945", "url": "https://www.uniprot.org/uniprot/Q06945" } ], "pmid": "" }, { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "Q06945", "url": "https://www.uniprot.org/uniprot/Q06945" } ], "pmid": "" }, { "name": "positive regulation of insulin secretion", "id": "GO:0032024", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032024", "evidence": [ { "database": "UniProtKB", "id": "Q06945", "url": "https://www.uniprot.org/uniprot/Q06945" } ], "pmid": "" }, { "name": "positive regulation of apoptotic process", "id": "GO:0043065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043065", "evidence": [ { "database": "UniProtKB", "id": "Q06945", "url": "https://www.uniprot.org/uniprot/Q06945" } ], "pmid": "" }, { "name": "positive regulation of transcription by RNA polymerase II", "id": "GO:0045944", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045944", "evidence": [ { "database": "UniProtKB", "id": "Q06945", "url": "https://www.uniprot.org/uniprot/Q06945" } ], "pmid": "" }, { "name": "cellular response to glucose stimulus", "id": "GO:0071333", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071333", "evidence": [ { "database": "UniProtKB", "id": "Q06945", "url": "https://www.uniprot.org/uniprot/Q06945" } ], "pmid": "" }, { "name": "response to hypoxia", "id": "GO:0001666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001666", "evidence": [ { "database": "UniProtKB", "id": "Q06945", "url": "https://www.uniprot.org/uniprot/Q06945" } ], "pmid": "" }, { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "Q06945", "url": "https://www.uniprot.org/uniprot/Q06945" } ], "pmid": "" }, { "name": "glucose homeostasis", "id": "GO:0042593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042593", "evidence": [ { "database": "UniProtKB", "id": "Q06945", "url": "https://www.uniprot.org/uniprot/Q06945" } ], "pmid": "" }, { "name": "positive regulation of DNA-templated transcription", "id": "GO:0045893", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045893", "evidence": [ { "database": "UniProtKB", "id": "Q06945", "url": "https://www.uniprot.org/uniprot/Q06945" } ], "pmid": "" }, { "name": "protein stabilization", "id": "GO:0050821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050821", "evidence": [ { "database": "UniProtKB", "id": "Q06945", "url": "https://www.uniprot.org/uniprot/Q06945" } ], "pmid": "" }, { "name": "regulation of protein stability", "id": "GO:0031647", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031647", "evidence": [ { "database": "UniProtKB", "id": "Q06945", "url": "https://www.uniprot.org/uniprot/Q06945" } ], "pmid": "" }, { "name": "neuroepithelial cell differentiation", "id": "GO:0060563", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060563", "evidence": [ { "database": "UniProtKB", "id": "Q06945", "url": "https://www.uniprot.org/uniprot/Q06945" } ], "pmid": "" }, { "name": "positive regulation of translation", "id": "GO:0045727", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045727", "evidence": [ { "database": "UniProtKB", "id": "Q06945", "url": "https://www.uniprot.org/uniprot/Q06945" } ], "pmid": "" }, { "name": "mitral valve morphogenesis", "id": "GO:0003183", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003183", "evidence": [ { "database": "UniProtKB", "id": "Q06945", "url": "https://www.uniprot.org/uniprot/Q06945" } ], "pmid": "" }, { "name": "atrial septum primum morphogenesis", "id": "GO:0003289", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003289", "evidence": [ { "database": "UniProtKB", "id": "Q06945", "url": "https://www.uniprot.org/uniprot/Q06945" } ], "pmid": "" }, { "name": "ventricular septum morphogenesis", "id": "GO:0060412", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060412", "evidence": [ { "database": "UniProtKB", "id": "Q06945", "url": "https://www.uniprot.org/uniprot/Q06945" } ], "pmid": "" }, { "name": "positive regulation of canonical Wnt signaling pathway", "id": "GO:0090263", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090263", "evidence": [ { "database": "UniProtKB", "id": "Q06945", "url": "https://www.uniprot.org/uniprot/Q06945" } ], "pmid": "" }, { "name": "negative regulation of protein ubiquitination", "id": "GO:0031397", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031397", "evidence": [ { "database": "UniProtKB", "id": "Q06945", "url": "https://www.uniprot.org/uniprot/Q06945" } ], "pmid": "" }, { "name": "endocrine pancreas development", "id": "GO:0031018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031018", "evidence": [ { "database": "UniProtKB", "id": "Q06945", "url": "https://www.uniprot.org/uniprot/Q06945" } ], "pmid": "" }, { "name": "glial cell proliferation", "id": "GO:0014009", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014009", "evidence": [ { "database": "UniProtKB", "id": "Q06945", "url": "https://www.uniprot.org/uniprot/Q06945" } ], "pmid": "" }, { "name": "sympathetic nervous system development", "id": "GO:0048485", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048485", "evidence": [ { "database": "UniProtKB", "id": "Q06945", "url": "https://www.uniprot.org/uniprot/Q06945" } ], "pmid": "" }, { "name": "negative regulation of myoblast differentiation", "id": "GO:0045662", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045662", "evidence": [ { "database": "UniProtKB", "id": "Q06945", "url": "https://www.uniprot.org/uniprot/Q06945" } ], "pmid": "" }, { "name": "somatic stem cell population maintenance", "id": "GO:0035019", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035019", "evidence": [ { "database": "UniProtKB", "id": "Q06945", "url": "https://www.uniprot.org/uniprot/Q06945" } ], "pmid": "" }, { "name": "positive regulation of gamma-delta T cell differentiation", "id": "GO:0045588", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045588", "evidence": [ { "database": "UniProtKB", "id": "Q06945", "url": "https://www.uniprot.org/uniprot/Q06945" } ], "pmid": "" }, { "name": "positive regulation of N-terminal peptidyl-lysine acetylation", "id": "GO:2000761", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000761", "evidence": [ { "database": "UniProtKB", "id": "Q06945", "url": "https://www.uniprot.org/uniprot/Q06945" } ], "pmid": "" }, { "name": "T cell differentiation", "id": "GO:0030217", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030217", "evidence": [ { "database": "UniProtKB", "id": "Q06945", "url": "https://www.uniprot.org/uniprot/Q06945" } ], "pmid": "" }, { "name": "gene expression", "id": "GO:0010467", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010467", "evidence": [ { "database": "UniProtKB", "id": "Q06945", "url": "https://www.uniprot.org/uniprot/Q06945" } ], "pmid": "" }, { "name": "anatomical structure morphogenesis", "id": "GO:0009653", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009653", "evidence": [ { "database": "UniProtKB", "id": "Q06945", "url": "https://www.uniprot.org/uniprot/Q06945" } ], "pmid": "" }, { "name": "positive regulation of myoblast differentiation", "id": "GO:0045663", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045663", "evidence": [ { "database": "UniProtKB", "id": "Q06945", "url": "https://www.uniprot.org/uniprot/Q06945" } ], "pmid": "" }, { "name": "mesenchyme development", "id": "GO:0060485", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060485", "evidence": [ { "database": "UniProtKB", "id": "Q06945", "url": "https://www.uniprot.org/uniprot/Q06945" } ], "pmid": "" }, { "name": "cardiac right ventricle morphogenesis", "id": "GO:0003215", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003215", "evidence": [ { "database": "UniProtKB", "id": "Q06945", "url": "https://www.uniprot.org/uniprot/Q06945" } ], "pmid": "" }, { "name": "hematopoietic stem cell homeostasis", "id": "GO:0061484", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061484", "evidence": [ { "database": "UniProtKB", "id": "Q06945", "url": "https://www.uniprot.org/uniprot/Q06945" } ], "pmid": "" }, { "name": "noradrenergic neuron differentiation", "id": "GO:0003357", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003357", "evidence": [ { "database": "UniProtKB", "id": "Q06945", "url": "https://www.uniprot.org/uniprot/Q06945" } ], "pmid": "" }, { "name": "ascending aorta morphogenesis", "id": "GO:0035910", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035910", "evidence": [ { "database": "UniProtKB", "id": "Q06945", "url": "https://www.uniprot.org/uniprot/Q06945" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 7, "go_terms": [ { "name": "DNA-binding transcription factor activity", "id": "GO:0003700", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003700", "evidence": [ { "database": "UniProtKB", "id": "Q06945", "url": "https://www.uniprot.org/uniprot/Q06945" } ], "pmid": "" }, { "name": "transcription cis-regulatory region binding", "id": "GO:0000976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000976", "evidence": [ { "database": "UniProtKB", "id": "Q06945", "url": "https://www.uniprot.org/uniprot/Q06945" } ], "pmid": "" }, { "name": "RNA polymerase II cis-regulatory region sequence-specific DNA binding", "id": "GO:0000978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000978", "evidence": [ { "database": "UniProtKB", "id": "Q06945", "url": "https://www.uniprot.org/uniprot/Q06945" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity, RNA polymerase II-specific", "id": "GO:0000981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000981", "evidence": [ { "database": "UniProtKB", "id": "Q06945", "url": "https://www.uniprot.org/uniprot/Q06945" } ], "pmid": "" }, { "name": "miRNA binding", "id": "GO:0035198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035198", "evidence": [ { "database": "UniProtKB", "id": "Q06945", "url": "https://www.uniprot.org/uniprot/Q06945" } ], "pmid": "" }, { "name": "DNA-binding transcription activator activity, RNA polymerase II-specific", "id": "GO:0001228", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001228", "evidence": [ { "database": "UniProtKB", "id": "Q06945", "url": "https://www.uniprot.org/uniprot/Q06945" } ], "pmid": "" }, { "name": "sequence-specific double-stranded DNA binding", "id": "GO:1990837", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990837", "evidence": [ { "database": "UniProtKB", "id": "Q06945", "url": "https://www.uniprot.org/uniprot/Q06945" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 6, "go_terms": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": 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