{ "uniprot_canonical_ac": "A8K855-1", "uniprot_ac": "A8K855", "uniprot_id": "EFCB7_HUMAN", "mass": { "chemical_mass": 71981.0, "monoisotopic_mass": 71981.0 }, "refseq": { "ac": "NP_115813", "name": "EF-hand calcium-binding domain-containing protein 7", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_115813" }, "gene_names": [ { "name": "EFCAB7", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/A8K855", "id": "A8K855" }, { "name": "EFCAB7", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_115813", "id": "NP_115813" }, { "name": "KIAA1799", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/A8K855", "id": "A8K855" } ], "protein_names": [ { "name": "EF-hand calcium-binding domain-containing protein 7", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "A8K855" }, { "name": "EF-hand calcium-binding domain-containing protein 7", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_115813", "id": "NP_115813" } ], "function": [ { "annotation": "Component of the EvC complex that positively regulates ciliary Hedgehog (Hh) signaling. Required for the localization of the EVC2:EVC subcomplex at the base of primary cilia.", "evidence": [ { "database": "UniProtKB", "id": "A8K855", "url": "https://www.uniprot.org/uniprot/A8K855#function" }, { "database": "UniProtKB", "id": "Q8VDY4", "url": "https://www.uniprot.org/uniprot/Q8VDY4#function" } ] }, { "annotation": "Novel mutation in EFCAB7 alters expression and interaction with EVC2 protein.", "evidence": [ { "database": "RefSeq", "id": "NP_115813", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_115813" }, { "database": "PubMed", "id": "29845660", "url": "https://glygen.org/publication/PubMed/29845660" } ] }, { "annotation": "We detected two novel nonsense mutations and a partial deletion of EVC/EVC2 in two Vietnamese families with EvC. Moreover, we found in one family a missense mutation of EFCAB7, a possible modifier gene in EvC and its related disorders.", "evidence": [ { "database": "RefSeq", "id": "NP_115813", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_115813" }, { "database": "PubMed", "id": "26748586", "url": "https://glygen.org/publication/PubMed/26748586" } ] } ], "disease": [], "snv": [], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "74.17", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000203965", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000203965" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "70.15", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000203965", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000203965" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "73.11", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000203965", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000203965" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "82.39", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000203965", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000203965" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "79.67", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000203965", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000203965" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "79.25", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000203965", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000203965" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "78.47", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000203965", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000203965" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "66.72", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000203965", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000203965" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "79.12", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000203965", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000203965" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "78.15", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000203965", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000203965" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "A8K855", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A8K855" } ], "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": "A8K855", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A8K855" } ], "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", 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"https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", 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cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "A8K855", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A8K855" } ], "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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"MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary 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{ "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 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cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "A8K855", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A8K855" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A8K855" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "A8K855", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A8K855" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", 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sapiens OX=9606 GN=EFCAB7 PE=1 SV=1 CANONICAL=A8K855-1" }, "locus": {} } ], "glycosylation": [], "phosphorylation": [ { "start_pos": 200, "end_pos": 200, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "A8K855", "url": "https://www.uniprot.org/uniprot/A8K855" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "A8K855", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/A8K855" } ], "site_lbl": "Ser200" }, { "start_pos": 212, "end_pos": 212, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "A8K855", "url": "https://www.uniprot.org/uniprot/A8K855" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "A8K855", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/A8K855" } ], "site_lbl": "Ser212" } ], "glycation": [], "keywords": [], "publication": [ { "title": "Hedgehog induces opposite changes in turnover and subcellular localization of patched and smoothened.", "journal": "Cell", "date": "2000", "authors": "Denef N, Neubuser D, Perez L, Cohen SM", "evidence": [ { "database": "Reactome", "id": "R-HSA-5635838", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5635838" } ], "reference": [ { "type": "PubMed", "id": "10966113", "url": "https://glygen.org/publication/PubMed/10966113" } ] }, { "title": "Identification of a functional interaction between the transmembrane protein Smoothened and the kinesin-related protein Costal2.", "journal": "Current biology : CB", "date": "2003", "authors": "Ogden SK, Ascano M Jr, Stegman MA, Suber LM, Hooper JE, Robbins DJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-5635838", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5635838" } ], "reference": [ { "type": "PubMed", "id": "14614827", "url": "https://glygen.org/publication/PubMed/14614827" } ] }, { "title": "Hedgehog signal transduction via Smoothened association with a cytoplasmic complex scaffolded by the atypical kinesin, Costal-2.", "journal": "Molecular cell", "date": "2003", "authors": "Lum L, Zhang C, Oh S, Mann RK, von Kessler DP, Taipale J, Weis-Garcia F, Gong R, Wang B, Beachy PA", "evidence": [ { "database": "Reactome", "id": "R-HSA-5635838", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5635838" } ], "reference": [ { "type": "PubMed", "id": "14636583", "url": "https://glygen.org/publication/PubMed/14636583" } ] }, { "title": "Activity-dependent internalization of smoothened mediated by beta-arrestin 2 and GRK2.", "journal": "Science (New York, N.Y.)", "date": "2004", "authors": "Chen W, Ren XR, Nelson CD, Barak LS, Chen JK, Beachy PA, de Sauvage F, Lefkowitz RJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-5635838", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5635838" } ], "reference": [ { "type": "PubMed", "id": "15618519", "url": "https://glygen.org/publication/PubMed/15618519" } ] }, { "title": "Hedgehog-regulated Costal2-kinase complexes control phosphorylation and proteolytic processing of Cubitus interruptus.", "journal": "Developmental cell", "date": "2005", "authors": "Zhang W, Zhao Y, Tong C, Wang G, Wang B, Jia J, Jiang J", "evidence": [ { "database": "Reactome", "id": "R-HSA-5635838", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5635838" } ], "reference": [ { "type": "PubMed", "id": "15691767", "url": "https://glygen.org/publication/PubMed/15691767" } ] }, { "title": "Vertebrate Smoothened functions at the primary cilium.", "journal": "Nature", "date": "2005", "authors": "Corbit KC, Aanstad P, Singla V, Norman AR, Stainier DY, Reiter JF", "evidence": [ { "database": "Reactome", "id": "R-HSA-5635838", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5635838" } ], "reference": [ { "type": "PubMed", "id": "16136078", "url": "https://glygen.org/publication/PubMed/16136078" } ] }, { "title": "The ihog cell-surface proteins bind Hedgehog and mediate pathway activation.", "journal": "Cell", "date": "2006", "authors": "Yao S, Lum L, Beachy P", "evidence": [ { "database": "Reactome", "id": "R-HSA-5635838", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5635838" } ], "reference": [ { "type": "PubMed", "id": "16630821", "url": "https://glygen.org/publication/PubMed/16630821" } ] }, { "title": "Smoothened signal transduction is promoted by G protein-coupled receptor kinase 2.", "journal": "Molecular and cellular biology", "date": "2006", "authors": "Meloni AR, Fralish GB, Kelly P, Salahpour A, Chen JK, Wechsler-Reya RJ, Lefkowitz RJ, Caron MG", "evidence": [ { "database": "Reactome", "id": "R-HSA-5635838", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5635838" } ], "reference": [ { "type": "PubMed", "id": "16908539", "url": "https://glygen.org/publication/PubMed/16908539" } ] }, { "title": "Patched1 regulates hedgehog signaling at the primary cilium.", "journal": "Science (New York, N.Y.)", "date": "2007", "authors": "Rohatgi R, Milenkovic L, Scott MP", "evidence": [ { "database": "Reactome", "id": "R-HSA-5635838", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5635838" } ], "reference": [ { "type": "PubMed", "id": "17641202", "url": "https://glygen.org/publication/PubMed/17641202" } ] }, { "title": "Hedgehog regulates smoothened activity by inducing a conformational switch.", "journal": "Nature", "date": "2007", "authors": "Zhao Y, Tong C, Jiang J", "evidence": [ { "database": "Reactome", "id": "R-HSA-5635838", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5635838" } ], "reference": [ { "type": "PubMed", "id": "17960137", "url": "https://glygen.org/publication/PubMed/17960137" } ] }, { "title": "Beta-arrestin-mediated localization of smoothened to the primary cilium.", "journal": "Science (New York, N.Y.)", "date": "2008", "authors": "Kovacs JJ, Whalen EJ, Liu R, Xiao K, Kim J, Chen M, Wang J, Chen W, Lefkowitz RJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-5635838", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5635838" } ], "reference": [ { "type": "PubMed", "id": "18497258", "url": "https://glygen.org/publication/PubMed/18497258" } ] }, { "title": "Smoothened signaling in vertebrates is facilitated by a G protein-coupled receptor kinase.", "journal": "Molecular biology of the cell", "date": "2008", "authors": "Philipp M, Fralish GB, Meloni AR, Chen W, MacInnes AW, Barak LS, Caron MG", "evidence": [ { "database": "Reactome", "id": "R-HSA-5635838", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5635838" } ], "reference": [ { "type": "PubMed", "id": "18815277", "url": "https://glygen.org/publication/PubMed/18815277" } ] }, { "title": "Selective translocation of intracellular Smoothened to the primary cilium in response to Hedgehog pathway modulation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2009", "authors": "Wang Y, Zhou Z, Walsh CT, McMahon AP", "evidence": [ { "database": "Reactome", "id": "R-HSA-5635838", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5635838" } ], "reference": [ { "type": "PubMed", "id": "19196978", "url": "https://glygen.org/publication/PubMed/19196978" } ] }, { "title": "Hedgehog signal transduction by Smoothened: pharmacologic evidence for a 2-step activation process.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2009", "authors": "Rohatgi R, Milenkovic L, Corcoran RB, Scott MP", "evidence": [ { "database": "Reactome", "id": "R-HSA-5635838", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5635838" } ], "reference": [ { "type": "PubMed", "id": "19218434", "url": "https://glygen.org/publication/PubMed/19218434" } ] }, { "title": "Smoothened adopts multiple active and inactive conformations capable of trafficking to the primary cilium.", "journal": "PloS one", "date": "2009", "authors": "Wilson CW, Chen MH, Chuang PT", "evidence": [ { "database": "Reactome", "id": "R-HSA-5635838", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5635838" } ], "reference": [ { "type": "PubMed", "id": "19365551", "url": "https://glygen.org/publication/PubMed/19365551" } ] }, { "title": "Lateral transport of Smoothened from the plasma membrane to the membrane of the cilium.", "journal": "The Journal of cell biology", "date": "2009", "authors": "Milenkovic L, Scott MP, Rohatgi R", "evidence": [ { "database": "Reactome", "id": "R-HSA-5635838", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5635838" } ], "reference": [ { "type": "PubMed", "id": "19948480", "url": "https://glygen.org/publication/PubMed/19948480" } ] }, { "title": "G protein-coupled receptor kinase 2 promotes high-level Hedgehog signaling by regulating the active state of Smo through kinase-dependent and kinase-independent mechanisms in Drosophila.", "journal": "Genes & development", "date": "2010", "authors": "Chen Y, Li S, Tong C, Zhao Y, Wang B, Liu Y, Jia J, Jiang J", "evidence": [ { "database": "Reactome", "id": "R-HSA-5635838", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5635838" } ], "reference": [ { "type": "PubMed", "id": "20844016", "url": "https://glygen.org/publication/PubMed/20844016" } ] }, { "title": "Evc2 is a positive modulator of Hedgehog signalling that interacts with Evc at the cilia membrane and is also found in the nucleus.", "journal": "BMC biology", "date": "2011", "authors": "Blair HJ, Tompson S, Liu YN, Campbell J, MacArthur K, Ponting CP, Ruiz-Perez VL, Goodship JA", "evidence": [ { "database": "Reactome", "id": "R-HSA-5635838", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5635838" } ], "reference": [ { "type": "PubMed", "id": "21356043", "url": "https://glygen.org/publication/PubMed/21356043" } ] }, { "title": "Growth Arrest Specific 8 (Gas8) and G protein-coupled receptor kinase 2 (GRK2) cooperate in the control of Smoothened signaling.", "journal": "The Journal of biological chemistry", "date": "2011", "authors": "Evron T, Philipp M, Lu J, Meloni AR, Burkhalter M, Chen W, Caron MG", "evidence": [ { "database": "Reactome", "id": "R-HSA-5635838", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5635838" } ], "reference": [ { "type": "PubMed", "id": "21659505", "url": "https://glygen.org/publication/PubMed/21659505" } ] }, { "title": "Sonic Hedgehog dependent phosphorylation by CK1alpha and GRK2 is required for ciliary accumulation and activation of smoothened.", "journal": "PLoS biology", "date": "2011", "authors": "Chen Y, Sasai N, Ma G, Yue T, Jia J, Briscoe J, Jiang J", "evidence": [ { "database": "Reactome", "id": "R-HSA-5635838", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5635838" } ], "reference": [ { "type": "PubMed", "id": "21695114", "url": "https://glygen.org/publication/PubMed/21695114" } ] }, { "title": "GRK2: multiple roles beyond G protein-coupled receptor desensitization.", "journal": "Trends in pharmacological sciences", "date": "2012", "authors": "Evron T, Daigle TL, Caron MG", "evidence": [ { "database": "Reactome", "id": "R-HSA-5635838", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5635838" } ], "reference": [ { "type": "PubMed", "id": "22277298", "url": "https://glygen.org/publication/PubMed/22277298" } ] }, { "title": "A Smoothened-Evc2 complex transduces the Hedgehog signal at primary cilia.", "journal": "Developmental cell", "date": "2012", "authors": "Dorn KV, Hughes CE, Rohatgi R", "evidence": [ { "database": "Reactome", "id": "R-HSA-5635838", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5635838" } ], "reference": [ { "type": "PubMed", "id": "22981989", "url": "https://glygen.org/publication/PubMed/22981989" } ] }, { "title": "Smoothened transduces Hedgehog signal by forming a complex with Evc/Evc2.", "journal": "Cell research", "date": "2012", "authors": "Yang C, Chen W, Chen Y, Jiang J", "evidence": [ { "database": "Reactome", "id": "R-HSA-5635838", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5635838" } ], "reference": [ { "type": "PubMed", "id": "22986504", "url": "https://glygen.org/publication/PubMed/22986504" } ] }, { "title": "The ciliary Evc/Evc2 complex interacts with Smo and controls Hedgehog pathway activity in chondrocytes by regulating Sufu/Gli3 dissociation and Gli3 trafficking in primary cilia.", "journal": "Human molecular genetics", "date": "2013", "authors": "Caparros-Martin JA, Valencia M, Reytor E, Pacheco M, Fernandez M, Perez-Aytes A, Gean E, Lapunzina P, Peters H, Goodship JA, Ruiz-Perez VL", "evidence": [ { "database": "Reactome", "id": "R-HSA-5635838", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5635838" } ], "reference": [ { "type": "PubMed", "id": "23026747", "url": "https://glygen.org/publication/PubMed/23026747" } ] }, { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "A8K855", "url": "https://www.uniprot.org/uniprot/A8K855" }, { "database": "iPTMnet", "id": "A8K855", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/A8K855" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] }, { "title": "The mechanisms of Hedgehog signalling and its roles in development and disease.", "journal": "Nature reviews. Molecular cell biology", "date": "2013", "authors": "Briscoe J, Therond PP", "evidence": [ { "database": "Reactome", "id": "R-HSA-5635838", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5635838" } ], "reference": [ { "type": "PubMed", "id": "23719536", "url": "https://glygen.org/publication/PubMed/23719536" } ] }, { "title": "Interaction of smoothened with integrin-linked kinase in primary cilia mediates Hedgehog signalling.", "journal": "EMBO reports", "date": "2013", "authors": "Barakat B, Yu L, Lo C, Vu D, De Luca E, Cain JE, Martelotto LG, Dedhar S, Sadler AJ, Wang D, Watkins DN, Hannigan GE", "evidence": [ { "database": "Reactome", "id": "R-HSA-5635838", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5635838" } ], "reference": [ { "type": "PubMed", "id": "23877428", "url": "https://glygen.org/publication/PubMed/23877428" } ] }, { "title": "EFCAB7 and IQCE regulate hedgehog signaling by tethering the EVC-EVC2 complex to the base of primary cilia.", "journal": "Developmental cell", "date": "2014", "authors": "Pusapati GV, Hughes CE, Dorn KV, Zhang D, Sugianto P, Aravind L, Rohatgi R", "evidence": [ { "database": "Reactome", "id": "R-HSA-5635838", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5635838" } ], "reference": [ { "type": "PubMed", "id": "24582806", "url": "https://glygen.org/publication/PubMed/24582806" } ] }, { "title": "G-protein-coupled receptors, Hedgehog signaling and primary cilia.", "journal": "Seminars in cell & developmental biology", "date": "2014", "authors": "Mukhopadhyay S, Rohatgi R", "evidence": [ { "database": "Reactome", "id": "R-HSA-5635838", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5635838" } ], "reference": [ { "type": "PubMed", "id": "24845016", "url": "https://glygen.org/publication/PubMed/24845016" } ] }, { "title": "Requirement of Smurf-mediated endocytosis of Patched1 in sonic hedgehog signal reception.", "journal": "eLife", "date": "2014", "authors": "Yue S, Tang LY, Tang Y, Tang Y, Shen QH, Ding J, Chen Y, Zhang Z, Yu TT, Zhang YE, Cheng SY", "evidence": [ { "database": "Reactome", "id": "R-HSA-5635838", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5635838" } ], "reference": [ { "type": "PubMed", "id": "24925320", "url": "https://glygen.org/publication/PubMed/24925320" } ] }, { "title": "Truncation and microdeletion of EVC/EVC2 with missense mutation of EFCAB7 in Ellis-van Creveld syndrome.", "journal": "Congenital anomalies", "date": "2016", "authors": "Nguyen TQ, Saitoh M, Trinh HT, Doan NM, Mizuno Y, Seki M, Sato Y, Ogawa S, Mizuguchi M", "evidence": [ { "database": "RefSeq", "id": "NP_115813", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_115813" } ], "reference": [ { "type": "PubMed", "id": "26748586", "url": "https://glygen.org/publication/PubMed/26748586" } ] }, { "title": "Novel mutation in EFCAB7 alters expression and interaction of Ellis-van Creveld ciliary proteins.", "journal": "Congenital anomalies", "date": "2019", "authors": "Nguyen 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