{ "uniprot_canonical_ac": "Q03113-1", "uniprot_ac": "Q03113", "uniprot_id": "GNA12_HUMAN", "mass": { "chemical_mass": 44279.0, "monoisotopic_mass": 44279.0 }, "refseq": { "ac": "NP_001269369", "name": "guanine nucleotide-binding protein subunit alpha-12 isoform 2", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269369" }, "gene_names": [ { "name": "GNA12", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/Q03113", "id": "Q03113" }, { "name": "GNA12", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269370", "id": "NP_001269370" }, { "name": "gep; HG1M1; NNX3; RMP", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269370", "id": "NP_001269370" } ], "protein_names": [ { "name": "Guanine nucleotide-binding protein subunit alpha-12", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "Q03113" }, { "name": "G alpha-12", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q03113" }, { "name": "G-protein subunit alpha-12", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q03113" }, { "name": "guanine nucleotide-binding protein subunit alpha-12 isoform 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269369", "id": "NP_001269369" }, { "name": "guanine nucleotide-binding protein subunit alpha-12 isoform 3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269370", "id": "NP_001269370" }, { "name": "guanine nucleotide-binding protein subunit alpha-12; WUGSC:H_GS165O14.2; g alpha-12; guanine nucleotide binding protein (G protein) alpha 12; heterotrimeric guanine nucleotide-binding protein 1M1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269369", "id": "NP_001269369" } ], "function": [ { "annotation": "Divergent C-terminal motifs in Galpha12 and Galpha13 provide distinct mechanisms of effector binding and SRF activation.", "evidence": [ { "database": "RefSeq", "id": "NP_001269370", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269370" }, { "database": "PubMed", "id": "32330601", "url": "https://glygen.org/publication/PubMed/32330601" }, { "database": "RefSeq", "id": "NP_001269369", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269369" } ] }, { "annotation": "ERalpha inhibits mesenchymal and amoeboidal movement of liver cancer cell via Galpha12.", "evidence": [ { "database": "RefSeq", "id": "NP_001269370", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269370" }, { "database": "PubMed", "id": "35020952", "url": "https://glygen.org/publication/PubMed/35020952" }, { "database": "RefSeq", "id": "NP_001269369", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269369" } ] }, { "annotation": "G12/13 is activated by acute tethered agonist exposure in the adhesion GPCR ADGRL3. Erratum:[Nat Chem Biol. 2020 Aug 17;:. PMID: 32807971]", "evidence": [ { "database": "RefSeq", "id": "NP_001269370", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269370" }, { "database": "PubMed", "id": "32778842", "url": "https://glygen.org/publication/PubMed/32778842" }, { "database": "RefSeq", "id": "NP_001269369", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269369" } ] }, { "annotation": "Galpha12 plays a crucial role in human airway smooth muscle contraction via RhoA-dependent activation of the PI3K/ROCK axis; targeting Galpha12 signaling may elucidate novel therapeutic targets in asthma", "evidence": [ { "database": "RefSeq", "id": "NP_001269370", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269370" }, { "database": "PubMed", "id": "28921504", "url": "https://glygen.org/publication/PubMed/28921504" }, { "database": "RefSeq", "id": "NP_001269369", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269369" } ] }, { "annotation": "Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various transmembrane signaling systems (PubMed:22609986, PubMed:15525651, PubMed:15240885, PubMed:17565996, PubMed:12515866, PubMed:16787920, PubMed:16705036, PubMed:23762476, PubMed:27084452). Activates effector molecule RhoA by binding and activating RhoGEFs (ARHGEF12/LARG) (PubMed:15240885, PubMed:12515866, PubMed:16202387). GNA12-dependent Rho signaling subsequently regulates transcription factor AP-1 (activating protein-1) (By similarity). GNA12-dependent Rho signaling also regulates protein phosphatese 2A activation causing dephosphorylation of its target proteins (PubMed:15525651, PubMed:17565996). Promotes tumor cell invasion and metastasis by activating RhoA/ROCK signaling pathway and up-regulating pro-inflammatory cytokine production (PubMed:23762476, PubMed:16787920, PubMed:16705036, PubMed:27084452). Inhibits CDH1-mediated cell adhesion in process independent from Rho activation (PubMed:11976333, PubMed:16787920). Together with NAPA promotes CDH5 localization to plasma membrane (PubMed:15980433). May play a role in the control of cell migration through the TOR signaling cascade (PubMed:22609986).", "evidence": [ { "database": "UniProtKB", "id": "Q03113", "url": "https://www.uniprot.org/uniprot/Q03113#function" }, { "database": "PubMed", "id": "12515866", "url": "https://glygen.org/publication/PubMed/12515866" }, { "database": "UniProtKB", "id": "P27600", "url": "https://www.uniprot.org/uniprot/P27600#function" }, { "database": "PubMed", "id": "27084452", "url": "https://glygen.org/publication/PubMed/27084452" }, { "database": "PubMed", "id": "15240885", "url": "https://glygen.org/publication/PubMed/15240885" }, { "database": "PubMed", "id": "22609986", "url": "https://glygen.org/publication/PubMed/22609986" }, { "database": "PubMed", "id": "16705036", "url": "https://glygen.org/publication/PubMed/16705036" }, { "database": "PubMed", "id": "23762476", "url": "https://glygen.org/publication/PubMed/23762476" }, { "database": "PubMed", "id": "17565996", "url": "https://glygen.org/publication/PubMed/17565996" }, { "database": "PubMed", "id": "16787920", "url": "https://glygen.org/publication/PubMed/16787920" }, { "database": "PubMed", "id": "11976333", "url": "https://glygen.org/publication/PubMed/11976333" }, { "database": "PubMed", "id": "15525651", "url": "https://glygen.org/publication/PubMed/15525651" }, { "database": "PubMed", "id": "15980433", "url": "https://glygen.org/publication/PubMed/15980433" } ] }, { "annotation": "Plant miR171 modulates mTOR pathway in HEK293 cells by targeting GNA12.", "evidence": [ { "database": "RefSeq", "id": "NP_001269370", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269370" }, { "database": "PubMed", "id": "33386590", "url": "https://glygen.org/publication/PubMed/33386590" }, { "database": "RefSeq", "id": "NP_001269369", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269369" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "Q03113", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/Q03113" } ], "glycoeffect": [], "start_pos": 357, "end_pos": 357, "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": "2731258", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E357", "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] }, { "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:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "80.96", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000146535", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000146535" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "79.33", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000146535", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000146535" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "84.76", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000146535", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000146535" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "76.57", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000146535", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000146535" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "92.28", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000146535", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000146535" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "85.73", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000146535", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000146535" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "72.01", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000146535", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000146535" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "91.05", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000146535", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000146535" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "84.68", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000146535", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000146535" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "73.65", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000146535", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000146535" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "81.43", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000146535", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000146535" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "88.12", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000146535", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000146535" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "88.06", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000146535", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000146535" } ] } ], "expression_disease": [ { "significant": "No", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "Q03113", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q03113" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the 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": "No", "trend": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "Q03113", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q03113" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "No", "trend": "down", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "Q03113", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q03113" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder 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}, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "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": "Q03113", "url": "https://www.uniprot.org/uniprot/Q03113" } ], "common_name": "Human" } ], "gene": [ { "name": "GNA12", "url": "https://www.uniprot.org/uniprot/Q03113", "locus": { "chromosome": "7", "start_pos": 2728105, "end_pos": 2844308, "strand": "+", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000146535", "url": "https://www.ensembl.org/id/ENSG00000146535" } ] } } ], "crossref": [ { "id": "ENSG00000146535", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000146535", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "Q03113", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/Q03113", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "cd00066", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd00066", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "CHEMBL3308913", "url": "https://www.ebi.ac.uk/chembldb/target/inspect/CHEMBL3308913", "database": "ChEMBL", "categories": [ "Other" ] }, { "id": "GNA12", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=GNA12", "database": "GeneCards", "categories": [ "Organism-specific", "Gene Annotation" ] }, { "id": "2768", "url": "https://www.ncbi.nlm.nih.gov/gene/2768", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "4380", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=4380", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "Q03113", "url": "https://www.ebi.ac.uk/intact/interactors/id:Q03113*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR000469", "url": "https://www.ebi.ac.uk/interpro/entry/IPR000469", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR001019", "url": "https://www.ebi.ac.uk/interpro/entry/IPR001019", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR011025", "url": "https://www.ebi.ac.uk/interpro/entry/IPR011025", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR027417", "url": "https://www.ebi.ac.uk/interpro/entry/IPR027417", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:2768", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:2768", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "604394", "url": "http://www.omim.org/entry/604394", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_Q03113", "url": "https://www.nextprot.org/entry/NX_Q03113", "database": "neXtProt", "categories": [ "Organism-specific", "Protein" ] }, { "id": "LMEDRCT", "url": "https://omabrowser.org/oma/group/LMEDRCT/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "2897309at2759", "url": "http://www.orthodb.org/?query=2897309at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR10218", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10218", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR10218:SF130", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10218:SF130", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF00503", "url": "http://pfam.xfam.org/family/PF00503", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "Q03113", "url": "https://pharos.nih.gov/targets/Q03113", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_Q03113", "url": "http://purl.obolibrary.org/obo/PR_Q03113", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-416482", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-416482", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-456926", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-456926", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_001269370", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269370", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "C9J2Y7", "url": "https://www.uniprot.org/uniprot/C9J2Y7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9J2Y7-1", "url": "https://www.uniprot.org/uniprot/C9J2Y7-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E9PC54", "url": "https://www.uniprot.org/uniprot/E9PC54", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E9PC54-1", "url": "https://www.uniprot.org/uniprot/E9PC54-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q03113", "url": "https://www.uniprot.org/uniprot/Q03113", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q03113-1", "url": "https://www.uniprot.org/uniprot/Q03113-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q03113-2", "url": "https://www.uniprot.org/uniprot/Q03113-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q03113-3", "url": "https://www.uniprot.org/uniprot/Q03113-3", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MSGVVRTLSRCLLPAEAGGARERRAGSGARDAEREARRRSRDIDALLARERRAVRRLVKILLLGAGESGKSTFLKQMRIIHGREFDQKALLEFRDTIFDNILKGSRVLVDARDKLGIPWQYSENEKHGMFLMAFENKAGLPVEPATFQLYVPALSALWRDSGIREAFSRRSEFQLGESVKYFLDNLDRIGQLNYFPSKQDILLARKATKGIVEHDFVIKKIPFKMVDVGGQRSQRQKWFQCFDGITSILFMVSSSEYDQVLMEDRRTNRLVESMNIFETIVNNKLFFNVSIILFLNKMDLLVEKVKTVSIKKHFPDFRGDPHRLEDVQRYLVQCFDRKRRNRSKPLFHHFTTAIDTENVRFVFHAVKDTILQENLKDIMLQ", "length": 381, "header": "sp|Q03113-1|GNA12_HUMAN Isoform 1 of Guanine nucleotide-binding protein subunit alpha-12 OS=Homo sapiens OX=9606 GN=GNA12 PE=1 SV=4 CANONICAL=Q03113-1" }, "isoforms": [ { "isoform_ac": "C9J2Y7-1", "url": "", "sequence": { "sequence": "MKRRMFPRPCLARMPGSRGSRVLVDARDKLGIPWQYSENEKHGMFLMAFENKAGLPVEPATFQLYVPALSALWRDSG", "length": 77, "header": "tr|C9J2Y7-1|GNA12_HUMAN Computationally mapped isoform of Guanine nucleotide-binding protein subunit alpha-12 OS=Homo sapiens OX=9606 GN=GNA12 PE=1 SV=1 CANONICAL=Q03113-1" }, "locus": { "chromosome": "7", "start_pos": 2814930, "end_pos": 2794967, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000447791.1", "url": "https://www.ensembl.org/id/ENST00000447791.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000391462.1", "url": "https://www.ensembl.org/id/ENSP00000391462.1" } ] } }, { "isoform_ac": "E9PC54-1", "url": "", "sequence": { "sequence": "MAPRAGLGAGPLLLRSRADWVCGGWEAALSAPPPFCTAWVERTGLVHFLREGGHGACFPLALLHPGSVVSFQMIYPLIVLPLCASWHWGLIRKGIVLFWGESVKYFLDNLDRIGQLNYFPSKQDILLARKATKGIVEHDFVIKKIPFKMVDVGGQRSQRQKWFQCFDGITSILFMVSSSEYDQVLMEDRRTNRLVESMNIFETIVNNKLFFNVSIILFLNKMDLLVEKVKTVSIKKHFPDFRGDPHRLEDVQRYLVQCFDRKRRNRSKPLFHHFTTAIDTENVRFVFHAVKDTILQENLKDIMLQ", "length": 305, "header": "tr|E9PC54-1|E9PC54_HUMAN Computationally mapped isoform of G protein subunit alpha 12 OS=Homo sapiens OX=9606 GN=GNA12 PE=1 SV=1 CANONICAL=Q03113-1" }, "locus": { "chromosome": "7", "start_pos": 2762888, "end_pos": 2731184, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000407653.1", "url": "https://www.ensembl.org/id/ENST00000407653.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000386054.1", "url": "https://www.ensembl.org/id/ENSP00000386054.1" } ] } }, { "isoform_ac": "Q03113-1", "url": "", "sequence": { "sequence": "MSGVVRTLSRCLLPAEAGGARERRAGSGARDAEREARRRSRDIDALLARERRAVRRLVKILLLGAGESGKSTFLKQMRIIHGREFDQKALLEFRDTIFDNILKGSRVLVDARDKLGIPWQYSENEKHGMFLMAFENKAGLPVEPATFQLYVPALSALWRDSGIREAFSRRSEFQLGESVKYFLDNLDRIGQLNYFPSKQDILLARKATKGIVEHDFVIKKIPFKMVDVGGQRSQRQKWFQCFDGITSILFMVSSSEYDQVLMEDRRTNRLVESMNIFETIVNNKLFFNVSIILFLNKMDLLVEKVKTVSIKKHFPDFRGDPHRLEDVQRYLVQCFDRKRRNRSKPLFHHFTTAIDTENVRFVFHAVKDTILQENLKDIMLQ", "length": 381, "header": "sp|Q03113-1|GNA12_HUMAN Isoform 1 of Guanine nucleotide-binding protein subunit alpha-12 OS=Homo sapiens OX=9606 GN=GNA12 PE=1 SV=4 CANONICAL=Q03113-1" }, "locus": { "chromosome": "7", "start_pos": 2844161, "end_pos": 2731184, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000275364.8", "url": "https://www.ensembl.org/id/ENST00000275364.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000275364.3", "url": "https://www.ensembl.org/id/ENSP00000275364.3" } ] } }, { "isoform_ac": "Q03113-2", "url": "", "sequence": { "sequence": "MKRRMFPRPCLARMPGSRGSGSTPDGNRKCCRFEHLLIAHPGSRGSRVLVDARDKLGIPWQYSENEKHGMFLMAFENKAGLPVEPATFQLYVPALSALWRDSGIREAFSRRSEFQLGESVKYFLDNLDRIGQLNYFPSKQDILLARKATKGIVEHDFVIKKIPFKMVDVGGQRSQRQKWFQCFDGITSILFMVSSSEYDQVLMEDRRTNRLVESMNIFETIVNNKLFFNVSIILFLNKMDLLVEKVKTVSIKKHFPDFRGDPHRLEDVQRYLVQCFDRKRRNRSKPLFHHFTTAIDTENVRFVFHAVKDTILQENLKDIMLQ", "length": 322, "header": "sp|Q03113-2|GNA12_HUMAN Isoform 2 of Guanine nucleotide-binding protein subunit alpha-12 OS=Homo sapiens OX=9606 GN=GNA12 PE=1 SV=4 CANONICAL=Q03113-1" }, "locus": { "chromosome": "7", "start_pos": 2814930, "end_pos": 2731184, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000407904.7", "url": "https://www.ensembl.org/id/ENST00000407904.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000385935.3", "url": "https://www.ensembl.org/id/ENSP00000385935.3" } ] } }, { "isoform_ac": "Q03113-3", "url": "", "sequence": { "sequence": "MRIIHGREFDQKALLEFRDTIFDNILKGSRVLVDARDKLGIPWQYSENEKHGMFLMAFENKAGLPVEPATFQLYVPALSALWRDSGIREAFSRRSEFQLNYFPSKQDILLARKATKGIVEHDFVIKKIPFKMVDVGGQRSQRQKWFQCFDGITSILFMVSSSEYDQVLMEDRRTNRLVESMNIFETIVNNKLFFNVSIILFLNKMDLLVEKVKTVSIKKHFPDFRGDPHRLEDVQRYLVQCFDRKRRNRSKPLFHHFTTAIDTENVRFVFHAVKDTILQENLKDIMLQ", "length": 288, "header": "sp|Q03113-3|GNA12_HUMAN Isoform 3 of Guanine nucleotide-binding protein subunit alpha-12 OS=Homo sapiens OX=9606 GN=GNA12 PE=1 SV=4 CANONICAL=Q03113-1" }, "locus": {} } ], "glycosylation": [], "phosphorylation": [ { "start_pos": 208, "end_pos": 208, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "Q03113", "url": "https://www.uniprot.org/uniprot/Q03113" } ], "site_lbl": "Thr208" } ], "glycation": [], "keywords": [], "publication": [ { "title": "A novel PDZ domain containing guanine nucleotide exchange factor links heterotrimeric G proteins to Rho.", "journal": "J. Biol. Chem.", "date": "1999", "authors": "Gutkind J.S., Fukuhara S., Igishi T., Murga C., Zohar M.", "evidence": [ { "database": "UniProtKB", "id": "Q03113", "url": "https://www.uniprot.org/uniprot/Q03113" } ], "reference": [ { "type": "PubMed", "id": "10026210", "url": "https://glygen.org/publication/PubMed/10026210" } ] }, { "title": "Leukemia-associated Rho guanine nucleotide exchange factor (LARG) links heterotrimeric G proteins of the G(12) family to Rho.", "journal": "FEBS Lett.", "date": "2000", "authors": "Fukuhara S, Chikumi H, Gutkind JS", "evidence": [ { "database": "UniProtKB", "id": "Q03113", "url": "https://www.uniprot.org/uniprot/Q03113" } ], "reference": [ { "type": "PubMed", "id": "11094164", "url": "https://glygen.org/publication/PubMed/11094164" } ] }, { "title": "Membrane blebbing during apoptosis results from caspase-mediated activation of ROCK I.", "journal": "Nature cell biology", "date": "2001", "authors": "Coleman ML, Sahai EA, Yeo M, Bosch M, Dewar A, Olson MF", "evidence": [ { "database": "Reactome", "id": "R-HSA-416482", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-416482" } ], "reference": [ { "type": "PubMed", "id": "11283606", "url": "https://glygen.org/publication/PubMed/11283606" } ] }, { "title": "Arachidonic acid-induced Ca2+ sensitization of smooth muscle contraction through activation of Rho-kinase.", "journal": "Pflugers Archiv : European journal of physiology", "date": "2001", "authors": "Araki S, Ito M, Kureishi Y, Feng J, Machida H, Isaka N, Amano M, Kaibuchi K, Hartshorne DJ, Nakano T", "evidence": [ { "database": "Reactome", "id": "R-HSA-416482", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-416482" } ], "reference": [ { "type": "PubMed", "id": "11294240", "url": "https://glygen.org/publication/PubMed/11294240" } ] }, { "title": "RGS-containing RhoGEFs: the missing link between transforming G proteins and Rho?", "journal": "Oncogene", "date": "2001", "authors": "Fukuhara S, Chikumi H, Gutkind JS", "evidence": [ { "database": "Reactome", "id": "R-HSA-416482", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-416482" } ], "reference": [ { "type": "PubMed", "id": "11313914", "url": "https://glygen.org/publication/PubMed/11313914" } ] }, { "title": "Competing modes of self-association in the regulatory domains of Bruton's tyrosine kinase: intramolecular contact versus asymmetric homodimerization.", "journal": "Protein science : a publication of the Protein Society", "date": "2002", "authors": "Laederach A, Cradic KW, Brazin KN, Zamoon J, Fulton DB, Huang XY, Andreotti AH", "evidence": [ { "database": "Reactome", "id": "R-HSA-416482", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-416482" } ], "reference": [ { "type": "PubMed", "id": "11742120", "url": "https://glygen.org/publication/PubMed/11742120" } ] }, { "title": "Galpha12 and Galpha13 negatively regulate the adhesive functions of cadherin.", "journal": "J. Biol. Chem.", "date": "2002", "authors": "Meigs T.E., Brackenbury R., Casey P.J., Fedor-Chaiken M., Kaplan D.D.", "evidence": [ { "database": "UniProtKB", "id": "Q03113", "url": "https://www.uniprot.org/uniprot/Q03113" } ], "reference": [ { "type": "PubMed", "id": "11976333", "url": "https://glygen.org/publication/PubMed/11976333" } ] }, { "title": "Guanine nucleotide exchange factors for Rho GTPases: turning on the switch.", "journal": "Genes & development", "date": "2002", "authors": "Schmidt A, Hall A", "evidence": [ { "database": "Reactome", "id": "R-HSA-416482", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-416482" } ], "reference": [ { "type": "PubMed", "id": "12101119", "url": "https://glygen.org/publication/PubMed/12101119" } ] }, { "title": "Plexin-B1 directly interacts with PDZ-RhoGEF/LARG to regulate RhoA and growth cone morphology.", "journal": "Neuron", "date": "2002", "authors": "Swiercz JM, Kuner R, Behrens J, Offermanns S", "evidence": [ { "database": "Reactome", "id": "R-HSA-416482", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-416482" } ], "reference": [ { "type": "PubMed", "id": "12123608", "url": "https://glygen.org/publication/PubMed/12123608" } ] }, { "title": "Galpha(12/13) mediates alpha(1)-adrenergic receptor-induced cardiac hypertrophy.", "journal": "Circulation research", "date": "2002", "authors": "Maruyama Y, Nishida M, Sugimoto Y, Tanabe S, Turner JH, Kozasa T, Wada T, Nagao T, Kurose H", "evidence": [ { "database": "Reactome", "id": "R-HSA-416482", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-416482" } ], "reference": [ { "type": "PubMed", "id": "12433842", "url": "https://glygen.org/publication/PubMed/12433842" } ] }, { "title": "Galpha 12 activates Rho GTPase through tyrosine-phosphorylated leukemia-associated RhoGEF.", "journal": "Proc. Natl. Acad. Sci. U.S.A.", "date": "2003", "authors": "Suzuki N, Nakamura S, Mano H, Kozasa T", "evidence": [ { "database": "UniProtKB", "id": "Q03113", "url": "https://www.uniprot.org/uniprot/Q03113" }, { "database": "Reactome", "id": "R-HSA-416482", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-416482" } ], "reference": [ { "type": "PubMed", "id": "12515866", "url": "https://glygen.org/publication/PubMed/12515866" } ] }, { "title": "A role for Galpha12/Galpha13 in p120ctn regulation.", "journal": "Proc. Natl. Acad. Sci. U.S.A.", "date": "2004", "authors": "Aragay A.M., Ardawatia V.V., Krakstad B.F.", "evidence": [ { "database": "UniProtKB", "id": "Q03113", "url": "https://www.uniprot.org/uniprot/Q03113" } ], "reference": [ { "type": "PubMed", "id": "15240885", "url": "https://glygen.org/publication/PubMed/15240885" } ] }, { "title": "Galpha12 directly interacts with PP2A: evidence for Galpha12-stimulated PP2A phosphatase activity and dephosphorylation of microtubule-associated protein, tau.", "journal": "J. Biol. 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