{ "uniprot_canonical_ac": "O15119-1", "uniprot_ac": "O15119", "uniprot_id": "TBX3_HUMAN", "mass": { "chemical_mass": 79389.0, "monoisotopic_mass": 79389.0 }, "refseq": { "ac": "NP_005987", "name": "T-box transcription factor TBX3 isoform 1", "summary": "This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. This protein is a transcriptional repressor and is thought to play a role in the anterior/posterior axis of the tetrapod forelimb. Mutations in this gene cause ulnar-mammary syndrome, affecting limb, apocrine gland, tooth, hair, and genital development. Alternative splicing of this gene results in three transcript variants encoding different isoforms; however, the full length nature of one variant has not been determined. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005987" }, "gene_names": [ { "name": "TBX3", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O15119", "id": "O15119" }, { "name": "TBX3-ISO; UMS; XHL", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005987", "id": "NP_005987" }, { "name": "TBX3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005987", "id": "NP_005987" } ], "protein_names": [ { "name": "T-box transcription factor TBX3", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O15119" }, { "name": "T-box protein 3", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O15119" }, { "name": "T-box transcription factor TBX3 isoform 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005987", "id": "NP_005987" }, { "name": "bladder cancer related protein XHL; T-box transcription factor TBX3; T-box protein 3; T-box 3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005987", "id": "NP_005987" } ], "function": [ { "annotation": "Hierarchical deployment of Tbx3 dictates the identity of hypothalamic KNDy neurons to control puberty onset.", "evidence": [ { "database": "RefSeq", "id": "NP_005987", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005987" }, { "database": "PubMed", "id": "36383654", "url": "https://glygen.org/publication/PubMed/36383654" } ] }, { "annotation": "Intracellular mechanics and TBX3 expression jointly dictate the spreading mode of melanoma cells in 3D environments.", "evidence": [ { "database": "RefSeq", "id": "NP_005987", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005987" }, { "database": "PubMed", "id": "37172754", "url": "https://glygen.org/publication/PubMed/37172754" } ] }, { "annotation": "Mutations in Tbx3 are responsible for ulnar-mammary syndrome (UMS), an autosomal dominant disorder affecting limb, tooth, hair, apocrine gland and genital development.", "evidence": [ { "database": "RefSeq", "id": "NP_005987", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005987" }, { "database": "PubMed", "id": "11689487", "url": "https://glygen.org/publication/PubMed/11689487" } ] }, { "annotation": "Suppressed Cellular Senescence Mediated by T-box3 in Aged Gastric Epithelial Cells may Contribute to Aging-related Carcinogenesis. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_005987", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005987" }, { "database": "PubMed", "id": "36923312", "url": "https://glygen.org/publication/PubMed/36923312" } ] }, { "annotation": "TBX3 Promotes Cervical Cancer Proliferation and Migration via HPV E6 and E7 Signaling.", "evidence": [ { "database": "RefSeq", "id": "NP_005987", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005987" }, { "database": "PubMed", "id": "36622795", "url": "https://glygen.org/publication/PubMed/36622795" } ] }, { "annotation": "TBX3 is dynamically expressed in pancreatic organogenesis and fine-tunes regeneration. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_005987", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005987" }, { "database": "PubMed", "id": "36941669", "url": "https://glygen.org/publication/PubMed/36941669" } ] }, { "annotation": "This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. This protein is a transcriptional repressor and is thought to play a role in the anterior/posterior axis of the tetrapod forelimb. Mutations in this gene cause ulnar-mammary syndrome, affecting limb, apocrine gland, tooth, hair, and genital development. Alternative splicing of this gene results in three transcript variants encoding different isoforms; however, the full length nature of one variant has not been determined. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_005987", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005987" } ] }, { "annotation": "Transcriptional repressor involved in developmental processes (PubMed:10468588). Binds to the palindromic T site 5'-TTCACACCTAGGTGTGAA-3' DNA sequence, or a half-site, which are present in the regulatory region of several genes (PubMed:12000749). Probably plays a role in limb pattern formation (PubMed:10468588). Required for mammary placode induction, and maintenance of the mammary buds during development (By similarity). Involved in branching morphogenesis in both developing lungs and adult mammary glands, via negative modulation of target genes; acting redundantly with TBX2 (By similarity). Required, together with TBX2, to maintain cell proliferation in the embryonic lung mesenchyme; perhaps acting downstream of SHH, BMP and TGFbeta signaling (By similarity). Involved in modulating early inner ear development, acting independently of, and also redundantly with, TBX2 in different subregions of the developing ear (By similarity). Acts as a negative regulator of PML function in cellular senescence (PubMed:22002537).", "evidence": [ { "database": "UniProtKB", "id": "O15119", "url": "https://www.uniprot.org/uniprot/O15119#function" }, { "database": "PubMed", "id": "22002537", "url": "https://glygen.org/publication/PubMed/22002537" }, { "database": "PubMed", "id": "10468588", "url": "https://glygen.org/publication/PubMed/10468588" }, { "database": "UniProtKB", "id": "P70324", "url": "https://www.uniprot.org/uniprot/P70324#function" }, { "database": "PubMed", "id": "12000749", "url": "https://glygen.org/publication/PubMed/12000749" } ] } ], "disease": [ { "disease_id": "DOID:0060614", "recommended_name": { "id": "DOID:0060614", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060614", "name": "ulnar-mammary syndrome", "description": "A syndrome that is characterized by posterior limb deficiencies or duplications, apocrine/mammary gland hypoplasia and, or dysfunction, abnormal dentition, delayed puberty in males, and genital anomalies and that has_material_basis_in heterozygous mutation in the TBX3 gene." }, "synonyms": [ { "id": "DOID:0060614", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060614", "name": "Pallister ulnar-mammary syndrome", "description": "" }, { "id": "DOID:0060614", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060614", "name": "Schinzel syndrome", "description": "" }, { "id": "MONDO:0008411", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008411", "name": "ulnar-mammary syndrome", "description": "Ulnar-mammary syndrome (UMS) is a rare developmental disorder characterized by ulnar defects, mammary and apocrine gland hypoplasia and genital anomalies. Delayed puberty dental anomalies, short stature and obesity have also been described." }, { "id": "MONDO:0008411", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008411", "name": "Pallister ulnar-mammary syndrome", "description": "" }, { "id": "MONDO:0008411", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008411", "name": "Schinzel syndrome", "description": "" }, { "id": "MONDO:0008411", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008411", "name": "ulnar-mammary syndrome", "description": "" }, { "id": "MONDO:0008411", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008411", "name": "ums", "description": "" }, { "id": "MONDO:0008411", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008411", "name": "ulnar-mammary syndrome of Pallister", "description": "" }, { "id": "MIM:181450", "resource": "MIM", "url": "https://www.omim.org/entry/181450", "name": "Ulnar-mammary syndrome", "description": "Ulnar-mammary syndrome" } ], "evidence": [ { "id": "181450", "database": "MIM", "url": "https://www.omim.org/entry/181450" } ] } ], "snv": [ { "evidence": [ { "id": "rs1242201658", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1242201658" }, { "id": "rs1242201658", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1242201658" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 394, "end_pos": 394, "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (KIS->NIS).", "chr_id": "12", "chr_pos": "114674753", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K394", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O15119", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O15119" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 407, "end_pos": 407, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "K", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (KGS->NGS).", "chr_id": "12", "chr_pos": "114674714", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "K407", "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": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "O15119", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O15119" }, { "id": "rs1565862637", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1565862637" }, { "id": "rs1565862637", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1565862637" }, { "id": "rs1565862637", "database": "NCI-TCGA", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1565862637" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 51, "end_pos": 51, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "T", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (NGA->NGT).", "chr_id": "12", "chr_pos": "114683050", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "A51", "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": "" } ] }, { "disease_id": "DOID:0060614", "recommended_name": { "id": "DOID:0060614", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060614", "name": "ulnar-mammary syndrome", "description": "A syndrome that is characterized by posterior limb deficiencies or duplications, apocrine/mammary gland hypoplasia and, or dysfunction, abnormal dentition, delayed puberty in males, and genital anomalies and that has_material_basis_in heterozygous mutation in the TBX3 gene." }, "synonyms": [ { "id": "DOID:0060614", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060614", "name": "Pallister ulnar-mammary syndrome", "description": "" }, { "id": "DOID:0060614", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060614", "name": "Schinzel syndrome", "description": "" }, { "id": "MONDO:0008411", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008411", "name": "ulnar-mammary syndrome", "description": "Ulnar-mammary syndrome (UMS) is a rare developmental disorder characterized by ulnar defects, mammary and apocrine gland hypoplasia and genital anomalies. Delayed puberty dental anomalies, short stature and obesity have also been described." }, { "id": "MONDO:0008411", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008411", "name": "Pallister ulnar-mammary syndrome", "description": "" }, { "id": "MONDO:0008411", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008411", "name": "Schinzel syndrome", "description": "" }, { "id": "MONDO:0008411", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008411", "name": "ulnar-mammary syndrome", "description": "" }, { "id": "MONDO:0008411", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008411", "name": "ums", "description": "" }, { "id": "MONDO:0008411", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008411", "name": "ulnar-mammary syndrome of Pallister", "description": "" }, { "id": "MIM:181450", "resource": "MIM", "url": "https://www.omim.org/entry/181450", "name": "Ulnar-mammary syndrome", "description": "Ulnar-mammary syndrome" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs1180900873", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1180900873" }, { "id": "rs1180900873", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1180900873#frequency_tab" }, { "id": "rs1180900873", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1180900873" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 696, "end_pos": 696, "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->F).", "chr_id": "12", "chr_pos": "114671986", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S696", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [ { "start_pos": 143, "end_pos": 143, "sequence_org": "L", "sequence_mut": "P", "comment": "Reduces binding to T site 5'-TTCACACCTAGGTGTGAA-3' DNA sequence.", "evidence": [ { "database": "UniProtKB", "id": "O15119", "url": "https://www.uniprot.org/uniprot/O15119" }, { "database": "PubMed", "id": "12000749", "url": "https://glygen.org/publication/PubMed/12000749" } ] }, { "start_pos": 149, "end_pos": 149, "sequence_org": "Y", "sequence_mut": "S", "comment": "Reduces binding to T site 5'-TTCACACCTAGGTGTGAA-3' DNA sequence.", "evidence": [ { "database": "UniProtKB", "id": "O15119", "url": "https://www.uniprot.org/uniprot/O15119" }, { "database": "PubMed", "id": "12000749", "url": "https://glygen.org/publication/PubMed/12000749" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "73.73", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000135111", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000135111" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "70.23", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000135111", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000135111" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "63.45", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000135111", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000135111" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "61.06", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000135111", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000135111" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "86.34", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000135111", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000135111" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "78.69", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000135111", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000135111" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "54.75", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000135111", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000135111" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "95.01", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000135111", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000135111" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "95.71", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000135111", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000135111" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "82.4", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000135111", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000135111" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "84.74", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000135111", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000135111" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "98.25", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000135111", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000135111" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "92.38", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000135111", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000135111" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O15119", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15119" } ], "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": 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"MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", 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"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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Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O15119", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15119" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15119" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "No", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { 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"malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O15119", "url": "https://www.uniprot.org/uniprot/O15119" } ], "common_name": "Human" } ], "gene": [ { "name": "TBX3", "url": "https://www.uniprot.org/uniprot/O15119", "locus": { "chromosome": "12", "start_pos": 114670255, "end_pos": 114684175, "strand": "+", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000135111", "url": "https://www.ensembl.org/id/ENSG00000135111" } ] } } ], "crossref": [ { "id": "ENSG00000135111", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000135111", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "O15119", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O15119", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "cd20188", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd20188", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "TBX3", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=TBX3", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "6926", "url": "https://www.ncbi.nlm.nih.gov/gene/6926", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "11602", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=11602", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "O15119", "url": "https://www.ebi.ac.uk/intact/interactors/id:O15119*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR001699", "url": "https://www.ebi.ac.uk/interpro/entry/IPR001699", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR008967", "url": "https://www.ebi.ac.uk/interpro/entry/IPR008967", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR018186", "url": "https://www.ebi.ac.uk/interpro/entry/IPR018186", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR022582", "url": "https://www.ebi.ac.uk/interpro/entry/IPR022582", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR036960", "url": "https://www.ebi.ac.uk/interpro/entry/IPR036960", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR046360", "url": "https://www.ebi.ac.uk/interpro/entry/IPR046360", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR048387", "url": "https://www.ebi.ac.uk/interpro/entry/IPR048387", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:6926", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:6926", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "181450", "url": "http://www.omim.org/entry/181450", "database": "MIM", "categories": [ "Other" ] }, { "id": "601621", "url": "http://www.omim.org/entry/601621", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_O15119", "url": "https://www.nextprot.org/entry/NX_O15119", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "O15119", "url": "https://oglcnac.org/atlas/detail/O15119", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "O15119", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O15119", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "QGIAMSP", "url": "https://omabrowser.org/oma/group/QGIAMSP/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "5323209at2759", "url": "http://www.orthodb.org/?query=5323209at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR11267", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11267", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR11267:SF91", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11267:SF91", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "1H6F", "url": "https://www.rcsb.org/structure/1H6F", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF00907", "url": "http://pfam.xfam.org/family/PF00907", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF12598", "url": "http://pfam.xfam.org/family/PF12598", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF20627", "url": "http://pfam.xfam.org/family/PF20627", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "O15119", "url": "https://pharos.nih.gov/targets/O15119", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_O15119", "url": "http://purl.obolibrary.org/obo/PR_O15119", "database": "PRO", "categories": [ "Protein" ] }, { "id": "NP_005987", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005987", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "O15119", "url": "https://www.uniprot.org/uniprot/O15119", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O15119-1", "url": "https://www.uniprot.org/uniprot/O15119-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O15119-2", "url": "https://www.uniprot.org/uniprot/O15119-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O15119-3", "url": "https://www.uniprot.org/uniprot/O15119-3", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MSLSMRDPVIPGTSMAYHPFLPHRAPDFAMSAVLGHQPPFFPALTLPPNGAAALSLPGALAKPIMDQLVGAAETGIPFSSLGPQAHLRPLKTMEPEEEVEDDPKVHLEAKELWDQFHKRGTEMVITKSGRRMFPPFKVRCSGLDKKAKYILLMDIIAADDCRYKFHNSRWMVAGKADPEMPKRMYIHPDSPATGEQWMSKVVTFHKLKLTNNISDKHGFTLAFPSDHATWQGNYSFGTQTILNSMHKYQPRFHIVRANDILKLPYSTFRTYLFPETEFIAVTAYQNDKITQLKIDNNPFAKGFRDTGNGRREKRKQLTLQSMRVFDERHKKENGTSDESSSEQAAFNCFAQASSPAASTVGTSNLKDLCPSEGESDAEAESKEEHGPEACDAAKISTTTSEEPCRDKGSPAVKAHLFAAERPRDSGRLDKASPDSRHSPATISSSTRGLGAEERRSPVREGTAPAKVEEARALPGKEAFAPLTVQTDAAAAHLAQGPLPGLGFAPGLAGQQFFNGHPLFLHPSQFAMGGAFSSMAAAGMGPLLATVSGASTGVSGLDSTAMASAAAAQGLSGASAATLPFHLQQHVLASQGLAMSPFGSLFPYPYTYMAAAAAASSAAASSSVHRHPFLNLNTMRPRLRYSPYSIPVPVPDGSSLLTTALPSMAAAAGPLDGKVAALAASPASVAVDSGSELNSRSSTLSSSSMSLSPKLCAEKEAATSELQSIQRLVSGLEAKPDRSRSASP", "length": 743, "header": "sp|O15119-1|TBX3_HUMAN Isoform 1 of T-box transcription factor TBX3 OS=Homo sapiens OX=9606 GN=TBX3 PE=1 SV=4 CANONICAL=O15119-1" }, "isoforms": [ { "isoform_ac": "O15119-1", "url": "", "sequence": { "sequence": "MSLSMRDPVIPGTSMAYHPFLPHRAPDFAMSAVLGHQPPFFPALTLPPNGAAALSLPGALAKPIMDQLVGAAETGIPFSSLGPQAHLRPLKTMEPEEEVEDDPKVHLEAKELWDQFHKRGTEMVITKSGRRMFPPFKVRCSGLDKKAKYILLMDIIAADDCRYKFHNSRWMVAGKADPEMPKRMYIHPDSPATGEQWMSKVVTFHKLKLTNNISDKHGFTLAFPSDHATWQGNYSFGTQTILNSMHKYQPRFHIVRANDILKLPYSTFRTYLFPETEFIAVTAYQNDKITQLKIDNNPFAKGFRDTGNGRREKRKQLTLQSMRVFDERHKKENGTSDESSSEQAAFNCFAQASSPAASTVGTSNLKDLCPSEGESDAEAESKEEHGPEACDAAKISTTTSEEPCRDKGSPAVKAHLFAAERPRDSGRLDKASPDSRHSPATISSSTRGLGAEERRSPVREGTAPAKVEEARALPGKEAFAPLTVQTDAAAAHLAQGPLPGLGFAPGLAGQQFFNGHPLFLHPSQFAMGGAFSSMAAAGMGPLLATVSGASTGVSGLDSTAMASAAAAQGLSGASAATLPFHLQQHVLASQGLAMSPFGSLFPYPYTYMAAAAAASSAAASSSVHRHPFLNLNTMRPRLRYSPYSIPVPVPDGSSLLTTALPSMAAAAGPLDGKVAALAASPASVAVDSGSELNSRSSTLSSSSMSLSPKLCAEKEAATSELQSIQRLVSGLEAKPDRSRSASP", "length": 743, "header": "sp|O15119-1|TBX3_HUMAN Isoform 1 of T-box transcription factor TBX3 OS=Homo sapiens OX=9606 GN=TBX3 PE=1 SV=4 CANONICAL=O15119-1" }, "locus": { "chromosome": "12", "start_pos": 114683200, "end_pos": 114671844, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000257566.7", "url": "https://www.ensembl.org/id/ENST00000257566.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000257566.3", "url": "https://www.ensembl.org/id/ENSP00000257566.3" } ] } }, { "isoform_ac": "O15119-2", "url": "", "sequence": { "sequence": "MSLSMRDPVIPGTSMAYHPFLPHRAPDFAMSAVLGHQPPFFPALTLPPNGAAALSLPGALAKPIMDQLVGAAETGIPFSSLGPQAHLRPLKTMEPEEEVEDDPKVHLEAKELWDQFHKRGTEMVITKSGRRMFPPFKVRCSGLDKKAKYILLMDIIAADDCRYKFHNSRWMVAGKADPEMPKRMYIHPDSPATGEQWMSKVVTFHKLKLTNNISDKHGFTILNSMHKYQPRFHIVRANDILKLPYSTFRTYLFPETEFIAVTAYQNDKITQLKIDNNPFAKGFRDTGNGRREKRKQLTLQSMRVFDERHKKENGTSDESSSEQAAFNCFAQASSPAASTVGTSNLKDLCPSEGESDAEAESKEEHGPEACDAAKISTTTSEEPCRDKGSPAVKAHLFAAERPRDSGRLDKASPDSRHSPATISSSTRGLGAEERRSPVREGTAPAKVEEARALPGKEAFAPLTVQTDAAAAHLAQGPLPGLGFAPGLAGQQFFNGHPLFLHPSQFAMGGAFSSMAAAGMGPLLATVSGASTGVSGLDSTAMASAAAAQGLSGASAATLPFHLQQHVLASQGLAMSPFGSLFPYPYTYMAAAAAASSAAASSSVHRHPFLNLNTMRPRLRYSPYSIPVPVPDGSSLLTTALPSMAAAAGPLDGKVAALAASPASVAVDSGSELNSRSSTLSSSSMSLSPKLCAEKEAATSELQSIQRLVSGLEAKPDRSRSASP", "length": 723, "header": "sp|O15119-2|TBX3_HUMAN Isoform 2 of T-box transcription factor TBX3 OS=Homo sapiens OX=9606 GN=TBX3 PE=1 SV=4 CANONICAL=O15119-1" }, "locus": { "chromosome": "12", "start_pos": 114683200, "end_pos": 114671844, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000349155.7", "url": "https://www.ensembl.org/id/ENST00000349155.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000257567.2", "url": "https://www.ensembl.org/id/ENSP00000257567.2" } ] } }, { "isoform_ac": "O15119-3", "url": "", "sequence": { "sequence": "MSLSMRDPVIPGTSMAYHPFLPHRAPDFAMSAVLGHQPPFFPALTLPPNGAAALSLPGALAKPIMDQLVGAAETGIPFSSLGPQAHLRPLKTMEPEEEVEDDPKVHLEAKELWDQFHKRGTEMVITKSGRRMFPPFKVRCSGLDKKAKYILLMDIIAADDCRYKFHNSRWMVAGKADPEMPKRMYIHPDSPATGEQWMSKVVTFHKLKLTNNISDKHGFTLAFPSDHATWQGNYSFGTQTILNSMHKYQPRFHIVRANDILKLPYSTFRTYLFPETEFIAVTAYQNDKITQLKIDNNPFAKGFRDTGNGRREKRKQLTLQSMRVFDERHKKENGTSDESSSEQAAFNCFAQASSPAASTVGTSNLKDLCPSEGESDAEAESKEEHGPEACDAAKISTTTSEEPCRDKGSPAVKAHLFAAERPRDSGRLDKASPDSRHSPATISSSTRGLGAEERRSPVREGTAPAKVEEARALPGKEAFAPLTVQTDAASAAASSSVHRHPFLNLNTMRPRLRYSPYSIPVPVPDGSSLLTTALAASPASVAVDSGSELNSRSSTLSSSSMSLSPKLCAEKEAATSELQSIQRLVSGLEAKPDRSRSASP", "length": 600, "header": "sp|O15119-3|TBX3_HUMAN Isoform 3 of T-box transcription factor TBX3 OS=Homo sapiens OX=9606 GN=TBX3 PE=1 SV=4 CANONICAL=O15119-1" }, "locus": {} } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 696, "start_aa": "Ser", "end_pos": 696, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser696", "evidence": [ { "id": "O15119", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O15119" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 697, "start_aa": "Ser", "end_pos": 697, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser697", "evidence": [ { "id": "O15119", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O15119" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "O15119", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O15119" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "33214551", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33214551" } ] } ], "phosphorylation": [ { "start_pos": 190, "end_pos": 190, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O15119", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15119" }, { "database": "PubMed", "id": 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"authors": "Liu Y, Chen Q, Zhang N, Zhang K, Dou T, Cao Y, Liu Y, Li K, Hao X, Xie X, Li W, Ren Y, Zhang J", "evidence": [ { "database": "O-GlcNAc Database", "id": "O15119", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O15119" } ], "reference": [ { "type": "PubMed", "id": "33214551", "url": "https://glygen.org/publication/PubMed/33214551" } ] }, { "title": "Hierarchical deployment of Tbx3 dictates the identity of hypothalamic KNDy neurons to control puberty onset.", "journal": "Science advances", "date": "2022-11-18", "authors": "Shi Xiang, Zhuang Yanrong, Chen Zhenhua, Xu Mingrui, Kuang Junqi, Sun Xue-Lian, Gao Lisen, Kuang Xia, Zhang Huairen, Li Wei, Wong Samuel Zheng Hao, Liu Chuanyu, Liu Longqi, Jiang Danhua, Pei Duanqing, Lin Yi, Wu Qing-Feng", "evidence": [ { "database": "RefSeq", "id": "NP_005987", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005987" } ], "reference": [ { "type": "PubMed", "id": "36383654", "url": "https://glygen.org/publication/PubMed/36383654" 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spreading mode of melanoma cells in 3D environments.", "journal": "Experimental cell research", "date": "2023-05-10", "authors": "Higgins Ghodeejah, Higgins Faatiemah, Peres Jade, Lang Dirk M, Abdalrahman Tamer, Zaman Muhammad H, Prince Sharon, Franz Thomas", "evidence": [ { "database": "RefSeq", "id": "NP_005987", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005987" } ], "reference": [ { "type": "PubMed", "id": "37172754", "url": "https://glygen.org/publication/PubMed/37172754" } ] }, { "title": "Mutations in human TBX3 alter limb, apocrine and genital development in ulnar-mammary syndrome.", "journal": "Nat. 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"https://www.uniprot.org/uniprot/O15119" } ], "pmid": "" }, { "name": "mammary gland development", "id": "GO:0030879", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030879", "evidence": [ { "database": "UniProtKB", "id": "O15119", "url": "https://www.uniprot.org/uniprot/O15119" } ], "pmid": "" }, { "name": "stem cell proliferation", "id": "GO:0072089", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072089", "evidence": [ { "database": "UniProtKB", "id": "O15119", "url": "https://www.uniprot.org/uniprot/O15119" } ], "pmid": "" }, { "name": "atrioventricular canal morphogenesis", "id": "GO:1905222", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905222", "evidence": [ { "database": "UniProtKB", "id": "O15119", "url": "https://www.uniprot.org/uniprot/O15119" } ], "pmid": "" }, { "name": "endocardial cushion formation", "id": "GO:0003272", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003272", "evidence": [ { "database": "UniProtKB", "id": "O15119", "url": 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