{ "uniprot_canonical_ac": "Q9UGI8-1", "uniprot_ac": "Q9UGI8", "uniprot_id": "TES_HUMAN", "mass": { "chemical_mass": 47996.0, "monoisotopic_mass": 47996.0 }, "refseq": { "ac": "NP_056456", "name": "testin isoform 1", "summary": "Cancer-associated chromosomal changes often involve regions containing fragile sites. This gene maps to a common fragile site on chromosome 7q31.2 designated FRA7G. This gene is similar to mouse Testin, a testosterone-responsive gene encoding a Sertoli cell secretory protein containing three LIM domains. LIM domains are double zinc-finger motifs that mediate protein-protein interactions between transcription factors, cytoskeletal proteins and signaling proteins. This protein is a negative regulator of cell growth and may act as a tumor suppressor. This scaffold protein may also play a role in cell adhesion, cell spreading and in the reorganization of the actin cytoskeleton. Multiple protein isoforms are encoded by transcript variants of this gene.[provided by RefSeq, Aug 2023].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056456" }, "gene_names": [ { "name": "TES", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/Q9UGI8", "id": "Q9UGI8" }, { "name": "TESS; TESS-2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056456", "id": "NP_056456" }, { "name": "TES", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056456", "id": "NP_056456" } ], "protein_names": [ { "name": "Testin", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "Q9UGI8" }, { "name": "TESS", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q9UGI8" }, { "name": "testin isoform 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056456", "id": "NP_056456" }, { "name": "testis derived transcript (3 LIM domains)", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056456", "id": "NP_056456" } ], "function": [ { "annotation": "Cancer-associated chromosomal changes often involve regions containing fragile sites. This gene maps to a common fragile site on chromosome 7q31.2 designated FRA7G. This gene is similar to mouse Testin, a testosterone-responsive gene encoding a Sertoli cell secretory protein containing three LIM domains. LIM domains are double zinc-finger motifs that mediate protein-protein interactions between transcription factors, cytoskeletal proteins and signaling proteins. This protein is a negative regulator of cell growth and may act as a tumor suppressor. This scaffold protein may also play a role in cell adhesion, cell spreading and in the reorganization of the actin cytoskeleton. Multiple protein isoforms are encoded by transcript variants of this gene.[provided by RefSeq, Aug 2023].", "evidence": [ { "database": "RefSeq", "id": "NP_056456", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056456" } ] }, { "annotation": "Chitinase 3-Like 1, Nestin, and Testin Proteins as Novel Biomarkers of Potential Clinical Use in Colorectal Cancer: A Review. Review article", "evidence": [ { "database": "RefSeq", "id": "NP_056456", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056456" }, { "database": "PubMed", "id": "32170669", "url": "https://glygen.org/publication/PubMed/32170669" } ] }, { "annotation": "Scaffold protein that may play a role in cell adhesion, cell spreading and in the reorganization of the actin cytoskeleton. Plays a role in the regulation of cell proliferation. May act as a tumor suppressor. Inhibits tumor cell growth.", "evidence": [ { "database": "UniProtKB", "id": "Q9UGI8", "url": "https://www.uniprot.org/uniprot/Q9UGI8#function" }, { "database": "PubMed", "id": "11420696", "url": "https://glygen.org/publication/PubMed/11420696" }, { "database": "PubMed", "id": "12571287", "url": "https://glygen.org/publication/PubMed/12571287" }, { "database": "PubMed", "id": "12695497", "url": "https://glygen.org/publication/PubMed/12695497" } ] }, { "annotation": "Stress fiber strain recognition by the LIM protein testin is cryptic and mediated by RhoA.", "evidence": [ { "database": "RefSeq", "id": "NP_056456", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056456" }, { "database": "PubMed", "id": "34038160", "url": "https://glygen.org/publication/PubMed/34038160" } ] }, { "annotation": "TES-mediated upregulation of the transcription factor DDIT3 is involved in CFP suppression of breast cancer cell growth", "evidence": [ { "database": "RefSeq", "id": "NP_056456", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056456" }, { "database": "PubMed", "id": "30755730", "url": "https://glygen.org/publication/PubMed/30755730" } ] }, { "annotation": "These findings provide a better understanding of the development and progression of gastric cancer (GC) and indicate that TES may be used as a potential prognostic marker and therapeutic target for GC patients. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_056456", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056456" }, { "database": "PubMed", "id": "30728082", "url": "https://glygen.org/publication/PubMed/30728082" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "Q9UGI8", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/Q9UGI8" } ], "glycoeffect": [], "start_pos": 185, "end_pos": 185, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "7", "chr_pos": "116250347", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "E185", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] }, { "disease_id": "DOID: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" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "mutagenesis": [ { "start_pos": 328, "end_pos": 328, "sequence_org": "C", "sequence_mut": "A", "comment": "Abolishes interaction with ACTL7A.", "evidence": [ { "database": "UniProtKB", "id": "Q9UGI8", "url": "https://www.uniprot.org/uniprot/Q9UGI8" }, { "database": "PubMed", "id": "21278383", "url": "https://glygen.org/publication/PubMed/21278383" } ] }, { "start_pos": 391, "end_pos": 391, "sequence_org": "C", "sequence_mut": "A", "comment": "Abolishes localization at focal adhesions.", "evidence": [ { "database": "UniProtKB", "id": "Q9UGI8", "url": "https://www.uniprot.org/uniprot/Q9UGI8" }, { "database": "PubMed", "id": "12695497", "url": "https://glygen.org/publication/PubMed/12695497" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "86.7", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000135269", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000135269" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "93.35", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000135269", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000135269" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "95.2", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000135269", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000135269" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "96.34", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000135269", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000135269" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "98.49", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000135269", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000135269" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "97.02", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000135269", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000135269" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "93.27", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000135269", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000135269" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "96.72", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000135269", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000135269" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "93.14", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000135269", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000135269" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "89.09", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000135269", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000135269" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "85.15", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000135269", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000135269" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "93.12", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000135269", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000135269" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "92.75", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000135269", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000135269" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "Q9UGI8", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q9UGI8" } ], "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": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "Q9UGI8", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q9UGI8" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor 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"https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "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": "down", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "Q9UGI8", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q9UGI8" } ], "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", 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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": "Q9UGI8", "url": "https://www.uniprot.org/uniprot/Q9UGI8" } ], "common_name": "Human" } ], "gene": [ { "name": "TES", "url": "https://www.uniprot.org/uniprot/Q9UGI8", "locus": { "chromosome": "7", "start_pos": 116258783, "end_pos": 116210506, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000135269", "url": "https://www.ensembl.org/id/ENSG00000135269" } ] } } ], "crossref": [ { "id": "ENSG00000135269", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000135269", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "Q9UGI8", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/Q9UGI8", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "cd09413", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd09413", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "cd09416", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd09416", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "cd09419", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd09419", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "cd09829", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd09829", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "TES", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=TES", "database": "GeneCards", "categories": [ "Organism-specific", "Gene Annotation" ] }, { "id": "26136", "url": "https://www.ncbi.nlm.nih.gov/gene/26136", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "14620", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=14620", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "Q9UGI8", "url": "https://www.ebi.ac.uk/intact/interactors/id:Q9UGI8*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR001781", "url": "https://www.ebi.ac.uk/interpro/entry/IPR001781", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR010442", "url": "https://www.ebi.ac.uk/interpro/entry/IPR010442", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR033724", "url": "https://www.ebi.ac.uk/interpro/entry/IPR033724", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR034958", "url": "https://www.ebi.ac.uk/interpro/entry/IPR034958", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR034959", "url": "https://www.ebi.ac.uk/interpro/entry/IPR034959", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR034960", "url": "https://www.ebi.ac.uk/interpro/entry/IPR034960", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR047120", "url": "https://www.ebi.ac.uk/interpro/entry/IPR047120", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:26136", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:26136", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "606085", "url": "http://www.omim.org/entry/606085", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_Q9UGI8", "url": "https://www.nextprot.org/entry/NX_Q9UGI8", "database": "neXtProt", "categories": [ "Organism-specific", "Protein" ] }, { "id": "Q9UGI8", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9UGI8", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "NFSCHQC", "url": "https://omabrowser.org/oma/group/NFSCHQC/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "370973at2759", "url": "http://www.orthodb.org/?query=370973at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR24211", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR24211", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR24211:SF1", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR24211:SF1", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "2IYB", "url": "https://www.rcsb.org/structure/2IYB", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "2XQN", "url": "https://www.rcsb.org/structure/2XQN", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF00412", "url": "http://pfam.xfam.org/family/PF00412", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF06297", "url": "http://pfam.xfam.org/family/PF06297", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "Q9UGI8", "url": "https://pharos.nih.gov/targets/Q9UGI8", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_Q9UGI8", "url": "http://purl.obolibrary.org/obo/PR_Q9UGI8", "database": "PRO", "categories": [ "Protein" ] }, { "id": "NP_056456", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056456", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "F8W7T0", "url": "https://www.uniprot.org/uniprot/F8W7T0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F8W7T0-1", "url": "https://www.uniprot.org/uniprot/F8W7T0-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F8WDI4", "url": "https://www.uniprot.org/uniprot/F8WDI4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F8WDI4-1", "url": "https://www.uniprot.org/uniprot/F8WDI4-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H7BYK1", "url": "https://www.uniprot.org/uniprot/H7BYK1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H7BYK1-1", "url": "https://www.uniprot.org/uniprot/H7BYK1-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q9UGI8", "url": "https://www.uniprot.org/uniprot/Q9UGI8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q9UGI8-1", "url": "https://www.uniprot.org/uniprot/Q9UGI8-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q9UGI8-2", "url": "https://www.uniprot.org/uniprot/Q9UGI8-2", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MDLENKVKKMGLGHEQGFGAPCLKCKEKCEGFELHFWRKICRNCKCGQEEHDVLLSNEEDRKVGKLFEDTKYTTLIAKLKSDGIPMYKRNVMILTNPVAAKKNVSINTVTYEWAPPVQNQALARQYMQMLPKEKQPVAGSEGAQYRKKQLAKQLPAHDQDPSKCHELSPREVKEMEQFVKKYKSEALGVGDVKLPCEMDAQGPKQMNIPGGDRSTPAAVGAMEDKSAEHKRTQYSCYCCKLSMKEGDPAIYAERAGYDKLWHPACFVCSTCHELLVDMIYFWKNEKLYCGRHYCDSEKPRCAGCDELIFSNEYTQAENQNWHLKHFCCFDCDSILAGEIYVMVNDKPVCKPCYVKNHAVVCQGCHNAIDPEVQRVTYNNFSWHASTECFLCSCCSKCLIGQKFMPVEGMVFCSVECKKRMS", "length": 421, "header": "sp|Q9UGI8-1|TES_HUMAN Isoform 1 of Testin OS=Homo sapiens OX=9606 GN=TES PE=1 SV=1 CANONICAL=Q9UGI8-1" }, "isoforms": [ { "isoform_ac": "F8W7T0-1", "url": "", "sequence": { "sequence": "MYKRNVMILTNPVAAKKNVSINTVTYEWAPPVQNQALARQYMQMLPKEKQPVAGSEGAQYRKKQLAKQLPAHDQDPSKC", "length": 79, "header": "tr|F8W7T0-1|TES_HUMAN Computationally mapped isoform of Testin OS=Homo sapiens OX=9606 GN=TES PE=1 SV=1 CANONICAL=Q9UGI8-1" }, "locus": { "chromosome": "7", "start_pos": 116250286, "end_pos": 116249162, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000455989.1", "url": "https://www.ensembl.org/id/ENST00000455989.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000413002.1", "url": "https://www.ensembl.org/id/ENSP00000413002.1" } ] } }, { "isoform_ac": "F8WDI4-1", "url": "", "sequence": { "sequence": "MDLENKVKKMGLGHEQGFGAPCLKCKEKCEGFELHFWSPAIAAN", "length": 44, "header": "tr|F8WDI4-1|TES_HUMAN Computationally mapped isoform of Testin OS=Homo sapiens OX=9606 GN=TES PE=1 SV=1 CANONICAL=Q9UGI8-1" }, "locus": { "chromosome": "7", "start_pos": 116251778, "end_pos": 116210708, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000492891.5", "url": "https://www.ensembl.org/id/ENST00000492891.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000420220.1", "url": "https://www.ensembl.org/id/ENSP00000420220.1" } ] } }, { "isoform_ac": "H7BYK1-1", "url": "", "sequence": { "sequence": "XTPAAVGAMEDKSAEHKRTQYSCYCCKLSMKEGDPAIYAERAGYDKLWHPACFVCSTCHELLVDMIYFWKNEKLYCGRHYCDSEKPRCAGCDELIFSNEYTQAENQNWHLKHFCCFDCDSILAGEIYVMVNDKPVCKPCYVKNHAVVRSVLRIWLPQPALGLEFMLFLKPLTNGKQKAVLLSRKQIIPTTGC", "length": 192, "header": "tr|H7BYK1-1|H7BYK1_HUMAN Computationally mapped isoform of Testin LIM domain protein OS=Homo sapiens OX=9606 GN=TES PE=1 SV=1 CANONICAL=Q9UGI8-1" }, "locus": { "chromosome": "7", "start_pos": 116252615, "end_pos": 116250435, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000393484.2", "url": "https://www.ensembl.org/id/ENST00000393484.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000377124.2", "url": "https://www.ensembl.org/id/ENSP00000377124.2" } ] } }, { "isoform_ac": "Q9UGI8-1", "url": "", "sequence": { "sequence": "MDLENKVKKMGLGHEQGFGAPCLKCKEKCEGFELHFWRKICRNCKCGQEEHDVLLSNEEDRKVGKLFEDTKYTTLIAKLKSDGIPMYKRNVMILTNPVAAKKNVSINTVTYEWAPPVQNQALARQYMQMLPKEKQPVAGSEGAQYRKKQLAKQLPAHDQDPSKCHELSPREVKEMEQFVKKYKSEALGVGDVKLPCEMDAQGPKQMNIPGGDRSTPAAVGAMEDKSAEHKRTQYSCYCCKLSMKEGDPAIYAERAGYDKLWHPACFVCSTCHELLVDMIYFWKNEKLYCGRHYCDSEKPRCAGCDELIFSNEYTQAENQNWHLKHFCCFDCDSILAGEIYVMVNDKPVCKPCYVKNHAVVCQGCHNAIDPEVQRVTYNNFSWHASTECFLCSCCSKCLIGQKFMPVEGMVFCSVECKKRMS", "length": 421, "header": "sp|Q9UGI8-1|TES_HUMAN Isoform 1 of Testin OS=Homo sapiens OX=9606 GN=TES PE=1 SV=1 CANONICAL=Q9UGI8-1" }, "locus": { "chromosome": "7", "start_pos": 116257479, "end_pos": 116210708, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000358204.9", "url": "https://www.ensembl.org/id/ENST00000358204.9" }, { "database": "Ensembl Peptide", "id": "ENSP00000350937.4", "url": "https://www.ensembl.org/id/ENSP00000350937.4" } ] } }, { "isoform_ac": "Q9UGI8-2", "url": "", "sequence": { "sequence": "MGLGHEQGFGAPCLKCKEKCEGFELHFWRKICRNCKCGQEEHDVLLSNEEDRKVGKLFEDTKYTTLIAKLKSDGIPMYKRNVMILTNPVAAKKNVSINTVTYEWAPPVQNQALARQYMQMLPKEKQPVAGSEGAQYRKKQLAKQLPAHDQDPSKCHELSPREVKEMEQFVKKYKSEALGVGDVKLPCEMDAQGPKQMNIPGGDRSTPAAVGAMEDKSAEHKRTQYSCYCCKLSMKEGDPAIYAERAGYDKLWHPACFVCSTCHELLVDMIYFWKNEKLYCGRHYCDSEKPRCAGCDELIFSNEYTQAENQNWHLKHFCCFDCDSILAGEIYVMVNDKPVCKPCYVKNHAVVCQGCHNAIDPEVQRVTYNNFSWHASTECFLCSCCSKCLIGQKFMPVEGMVFCSVECKKRMS", "length": 412, "header": "sp|Q9UGI8-2|TES_HUMAN Isoform 2 of Testin OS=Homo sapiens OX=9606 GN=TES PE=1 SV=1 CANONICAL=Q9UGI8-1" }, "locus": { "chromosome": "7", "start_pos": 116257479, "end_pos": 116234534, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000393481.6", "url": "https://www.ensembl.org/id/ENST00000393481.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000377121.2", "url": "https://www.ensembl.org/id/ENSP00000377121.2" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "Q9UGI8", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9UGI8" }, { "id": "23301498", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23301498" }, { "id": "33214551", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33214551" }, { "id": "34229054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34229054" } ] } ], "phosphorylation": [ { "start_pos": 214, "end_pos": 214, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q9UGI8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UGI8" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser214" }, { "start_pos": 237, "end_pos": 237, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q9UGI8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UGI8" }, { "database": "PubMed", "id": "18083107", "url": "https://glygen.org/publication/PubMed/18083107" }, { "database": "phospho.ELM", "id": "Q9UGI8", "url": "http://phospho.elm.eu.org/byAccession/Q9UGI8.html" } ], "site_lbl": "Tyr237" }, { "start_pos": 251, "end_pos": 251, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q9UGI8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UGI8" }, { "database": "PubMed", "id": "18083107", "url": "https://glygen.org/publication/PubMed/18083107" }, { "database": "phospho.ELM", "id": "Q9UGI8", "url": "http://phospho.elm.eu.org/byAccession/Q9UGI8.html" } ], "site_lbl": "Tyr251" }, { "start_pos": 288, "end_pos": 288, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q9UGI8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UGI8" }, { "database": "PubMed", "id": "18083107", "url": "https://glygen.org/publication/PubMed/18083107" }, { "database": "phospho.ELM", "id": "Q9UGI8", "url": "http://phospho.elm.eu.org/byAccession/Q9UGI8.html" } ], "site_lbl": "Tyr288" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Characterization of the human TESTIN gene localized in the FRA7G region at 7q31.2.", "journal": "Genomics", "date": "2000", "authors": "Croce C.M., Mimori K., Linnenbach A., Tatarelli C.", "evidence": [ { "database": "UniProtKB", "id": "Q9UGI8", "url": "https://www.uniprot.org/uniprot/Q9UGI8" } ], "reference": [ { "type": "PubMed", "id": "10950921", "url": "https://glygen.org/publication/PubMed/10950921" } ] }, { "title": "The TES gene at 7q31.1 is methylated in tumours and encodes a novel growth-suppressing LIM domain protein.", "journal": "Oncogene", "date": "2001", "authors": "Tobias ES, Hurlstone AF, MacKenzie E, McFarlane R, Black DM", "evidence": [ { "database": "UniProtKB", "id": "Q9UGI8", "url": "https://www.uniprot.org/uniprot/Q9UGI8" } ], "reference": [ { "type": "PubMed", "id": "11420696", "url": "https://glygen.org/publication/PubMed/11420696" } ] }, { "title": "TES is a novel focal adhesion protein with a role in cell spreading.", "journal": "J. Cell Sci.", "date": "2003", "authors": "Coutts AS, MacKenzie E, Griffith E, Black DM", "evidence": [ { "database": "UniProtKB", "id": "Q9UGI8", "url": "https://www.uniprot.org/uniprot/Q9UGI8" } ], "reference": [ { "type": "PubMed", "id": "12571287", "url": "https://glygen.org/publication/PubMed/12571287" } ] }, { "title": "The conformational state of Tes regulates its zyxin-dependent recruitment to focal adhesions.", "journal": "J. Cell Biol.", "date": "2003", "authors": "Garvalov BK, Higgins TE, Sutherland JD, Zettl M, Scaplehorn N, Kocher T, Piddini E, Griffiths G, Way M", "evidence": [ { "database": "UniProtKB", "id": "Q9UGI8", "url": "https://www.uniprot.org/uniprot/Q9UGI8" } ], "reference": [ { "type": "PubMed", "id": "12695497", "url": "https://glygen.org/publication/PubMed/12695497" } ] }, { "title": "Global survey of phosphotyrosine signaling identifies oncogenic kinases in lung cancer.", "journal": "Cell", "date": "2007", "authors": "Rikova K, Guo A, Zeng Q, Possemato A, Yu J, Haack H, Nardone J, Lee K, Reeves C, Li Y, Hu Y, Tan Z, Stokes M, Sullivan L, Mitchell J, Wetzel R, Macneill J, Ren JM, Yuan J, Bakalarski CE, Villen J, Kornhauser JM, Smith B, Li D, Zhou X, Gygi SP, Gu TL, Polakiewicz RD, Rush J, Comb MJ", "evidence": [ { "database": "iPTMnet", "id": "Q9UGI8-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UGI8-1" } ], "reference": [ { "type": "PubMed", "id": "18083107", "url": "https://glygen.org/publication/PubMed/18083107" } ] }, { "title": "Tes, a specific Mena interacting partner, breaks the rules for EVH1 binding.", "journal": "Mol. Cell", "date": "2007", "authors": "Boeda B., Briggs D.C., Garvalov B.K., McDonald N.Q., Way M., Fadden A.J., Higgins T.", "evidence": [ { "database": "UniProtKB", "id": "Q9UGI8", "url": "https://www.uniprot.org/uniprot/Q9UGI8" } ], "reference": [ { "type": "PubMed", "id": "18158903", "url": "https://glygen.org/publication/PubMed/18158903" } ] }, { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "iPTMnet", "id": "Q9UGI8-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UGI8-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] }, { "title": "Molecular recognition of the Tes LIM2-3 domains by the actin-related protein Arp7A.", "journal": "J. Biol. Chem.", "date": "2011", "authors": "Boeda B, Knowles PP, Briggs DC, Murray-Rust J, Soriano E, Garvalov BK, McDonald NQ, Way M", "evidence": [ { "database": "UniProtKB", "id": "Q9UGI8", "url": "https://www.uniprot.org/uniprot/Q9UGI8" } ], "reference": [ { "type": "PubMed", "id": "21278383", "url": "https://glygen.org/publication/PubMed/21278383" } ] }, { "title": "Human ALKBH4 interacts with proteins associated with transcription.", "journal": "PLoS ONE", "date": "2012", "authors": "Bjornstad LG, Meza TJ, Otterlei M, Olafsrud SM, Meza-Zepeda LA, Falnes PO", "evidence": [ { "database": "UniProtKB", "id": "Q9UGI8", "url": "https://www.uniprot.org/uniprot/Q9UGI8" } ], "reference": [ { "type": "PubMed", "id": "23145062", "url": "https://glygen.org/publication/PubMed/23145062" } ] }, { "title": "Proteome wide purification and identification of O-GlcNAc-modified proteins using click chemistry and mass spectrometry.", "journal": "Journal of proteome research", "date": "2013", "authors": "Hahne H, Sobotzki N, Nyberg T, Helm D, Borodkin VS, van Aalten DM, Agnew B, Kuster B", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9UGI8", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9UGI8" } ], "reference": [ { "type": "PubMed", "id": "23301498", "url": "https://glygen.org/publication/PubMed/23301498" } ] }, { "title": "TES functions as a Mena-dependent tumor suppressor in gastric cancer carcinogenesis and metastasis.", "journal": "Cancer communications (London, England)", "date": "2019", "authors": "Wang DD, Chen YB, Zhao JJ, Zhang XF, Zhu GC, Weng DS, Pan K, Lv L, Pan QZ, Jiang SS, Wang LL, Xia JC", "evidence": [ { "database": "RefSeq", "id": "NP_056456", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056456" } ], "reference": [ { "type": "PubMed", "id": "30728082", "url": "https://glygen.org/publication/PubMed/30728082" } ] }, { "title": "CFP suppresses breast cancer cell growth by TES-mediated upregulation of the transcription factor DDIT3.", "journal": "Oncogene", "date": "2019", "authors": "Block I, Muller C, Sdogati D, Pedersen H, List M, Jaskot AM, Syse SD, Lund Hansen P, Schmidt S, Christiansen H, Casella C, Bering Olsen S, Blomstrom MM, Riedel A, Thomassen M, Kruse TA, Karlskov Hansen SW, Kioschis P, Mollenhauer J", "evidence": [ { "database": "RefSeq", "id": "NP_056456", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056456" } ], "reference": [ { "type": "PubMed", "id": "30755730", "url": "https://glygen.org/publication/PubMed/30755730" } ] }, { "title": "Chitinase 3-Like 1, Nestin, and Testin Proteins as Novel Biomarkers of Potential Clinical Use in Colorectal Cancer: A Review.", "journal": "Advances in experimental medicine and biology", "date": "2020", "authors": "Szymanska-Chabowska A, Juzwiszyn J, Jankowska-Polanska B, Tanski W, Chabowski M", "evidence": [ { "database": "RefSeq", "id": "NP_056456", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056456" } ], "reference": [ { "type": "PubMed", "id": "32170669", "url": "https://glygen.org/publication/PubMed/32170669" } ] }, { "title": "Proteomic profiling and genome-wide mapping of O-GlcNAc chromatin-associated proteins reveal an O-GlcNAc-regulated genotoxic stress response.", "journal": "Nature communications", "date": "2020", "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": "Q9UGI8", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9UGI8" } ], "reference": [ { "type": "PubMed", "id": "33214551", "url": "https://glygen.org/publication/PubMed/33214551" } ] }, { "title": "Stress fiber strain recognition by the LIM protein testin is cryptic and mediated by RhoA.", "journal": "Molecular biology of the cell", "date": "2021", "authors": "Sala S, Oakes PW", "evidence": [ { "database": "RefSeq", "id": "NP_056456", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056456" } ], "reference": [ { "type": "PubMed", "id": "34038160", "url": 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