{ "uniprot_canonical_ac": "O95452-1", "uniprot_ac": "O95452", "uniprot_id": "CXB6_HUMAN", "mass": { "chemical_mass": 30387.0, "monoisotopic_mass": 30387.0 }, "refseq": { "ac": "NP_001103689", "name": "gap junction beta-6 protein", "summary": "Gap junctions allow the transport of ions and metabolites between the cytoplasm of adjacent cells. They are formed by two hemichannels, made up of six connexin proteins assembled in groups. Each connexin protein has four transmembrane segments, two extracellular loops, a cytoplasmic loop formed between the two inner transmembrane segments, and the N- and C-terminus both being in the cytoplasm. The specificity of the gap junction is determined by which connexin proteins comprise the hemichannel. In the past, connexin protein names were based on their molecular weight, however the new nomenclature uses sequential numbers based on which form (alpha or beta) of the gap junction is present. This gene encodes one of the connexin proteins. Mutations in this gene have been found in some forms of deafness and in some families with hidrotic ectodermal dysplasia. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001103689" }, "gene_names": [ { "name": "GJB6", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O95452", "id": "O95452" }, { "name": "CX30; DFNA3; DFNA3B; DFNB1B; ECTD2; ED2; EDH; HED; HED2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001103689", "id": "NP_001103689" }, { "name": "GJB6", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001103689", "id": "NP_001103689" } ], "protein_names": [ { "name": "Gap junction beta-6 protein", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O95452" }, { "name": "Connexin-30", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95452" }, { "name": "Cx30", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95452" }, { "name": "ectodermal dysplasia 2, hidrotic (Clouston syndrome); connexin 30; gap junction protein, beta 6, 30kDa", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001103689", "id": "NP_001103689" }, { "name": "gap junction beta-6 protein", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001103689", "id": "NP_001103689" } ], "function": [ { "annotation": "A recurrent mutation of GJB6 in a big Chinese family with Hidrotic ectodermal dysplasia. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001103689", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001103689" }, { "database": "PubMed", "id": "32843087", "url": "https://glygen.org/publication/PubMed/32843087" } ] }, { "annotation": "Dysregulation of Connexin Expression Plays a Pivotal Role in Psoriasis. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001103689", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001103689" }, { "database": "PubMed", "id": "34199748", "url": "https://glygen.org/publication/PubMed/34199748" } ] }, { "annotation": "GJB2 and GJB6 Genetic Variant Curation in an Argentinean Non-Syndromic Hearing-Impaired Cohort. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001103689", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001103689" }, { "database": "PubMed", "id": "33096615", "url": "https://glygen.org/publication/PubMed/33096615" } ] }, { "annotation": "Gap junctions allow the transport of ions and metabolites between the cytoplasm of adjacent cells. They are formed by two hemichannels, made up of six connexin proteins assembled in groups. Each connexin protein has four transmembrane segments, two extracellular loops, a cytoplasmic loop formed between the two inner transmembrane segments, and the N- and C-terminus both being in the cytoplasm. The specificity of the gap junction is determined by which connexin proteins comprise the hemichannel. In the past, connexin protein names were based on their molecular weight, however the new nomenclature uses sequential numbers based on which form (alpha or beta) of the gap junction is present. This gene encodes one of the connexin proteins. Mutations in this gene have been found in some forms of deafness and in some families with hidrotic ectodermal dysplasia. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_001103689", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001103689" } ] }, { "annotation": "One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell.", "evidence": [ { "database": "UniProtKB", "id": "O95452", "url": "https://www.uniprot.org/uniprot/O95452#function" } ] } ], "disease": [ { "disease_id": "DOID:0110476", "recommended_name": { "id": "DOID:0110476", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110476", "name": "autosomal recessive nonsyndromic deafness 1B", "description": "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with usually stable hearing loss and has_material_basis_in mutation in the GJB6 gene on chromosome 13q12." }, "synonyms": [ { "id": "DOID:0110476", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110476", "name": "DFNB1B", "description": "" }, { "id": "DOID:0110476", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110476", "name": "autosomal recessive deafness 1B", "description": "" }, { "id": "MONDO:0012977", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012977", "name": "autosomal recessive nonsyndromic hearing loss 1B", "description": "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the GJB6 gene." }, { "id": "MONDO:0012977", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012977", "name": "Autosomal recessive deafness type 1B", "description": "" }, { "id": "MONDO:0012977", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012977", "name": "DFNB1B", "description": "" }, { "id": "MONDO:0012977", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012977", "name": "GJB6 autosomal recessive nonsyndromic deafness", "description": "" }, { "id": "MONDO:0012977", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012977", "name": "autosomal recessive deafness 1B", "description": "" }, { "id": "MONDO:0012977", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012977", "name": "autosomal recessive nonsyndromic deafness 1B", "description": "" }, { "id": "MONDO:0012977", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012977", "name": "autosomal recessive nonsyndromic deafness caused by mutation in GJB6", "description": "" }, { "id": "MONDO:0012977", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012977", "name": "autosomal recessive nonsyndromic deafness type 1B", "description": "" }, { "id": "MONDO:0012977", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012977", "name": "deafness, autosomal recessive 1B", "description": "" }, { "id": "MONDO:0012977", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012977", "name": "deafness, autosomal recessive 1b", "description": "" }, { "id": "MONDO:0012977", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012977", "name": "deafness, autosomal recessive type 1B", "description": "" }, { "id": "MIM:612645", "resource": "MIM", "url": "https://www.omim.org/entry/612645", "name": "Deafness, autosomal recessive, 1B", "description": "Deafness, autosomal recessive, 1B" } ], "evidence": [ { "id": "612645", "database": "MIM", "url": "https://www.omim.org/entry/612645" } ] }, { "disease_id": "DOID:0110565", "recommended_name": { "id": "DOID:0110565", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110565", "name": "autosomal dominant nonsyndromic deafness 3B", "description": "An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the GJB6 gene on chromosome 13q12." }, "synonyms": [ { "id": "DOID:0110565", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110565", "name": "DFNA3B", "description": "" }, { "id": "DOID:0110565", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110565", "name": "autosomal dominant deafness 3B", "description": "" }, { "id": "MONDO:0012975", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012975", "name": "autosomal dominant nonsyndromic hearing loss 3B", "description": "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the GJB6 gene." }, { "id": "MONDO:0012975", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012975", "name": "DFNA3B", "description": "" }, { "id": "MONDO:0012975", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012975", "name": "GJB6 autosomal dominant nonsyndromic deafness", "description": "" }, { "id": "MONDO:0012975", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012975", "name": "autosomal dominant deafness 3B", "description": "" }, { "id": "MONDO:0012975", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012975", "name": "autosomal dominant nonsyndromic deafness 3B", "description": "" }, { "id": "MONDO:0012975", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012975", "name": "autosomal dominant nonsyndromic deafness caused by mutation in GJB6", "description": "" }, { "id": "MONDO:0012975", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012975", "name": "autosomal dominant nonsyndromic deafness type 3B", "description": "" }, { "id": "MONDO:0012975", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012975", "name": "deafness, autosomal dominant 3B", "description": "" }, { "id": "MONDO:0012975", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012975", "name": "deafness, autosomal dominant 3b", "description": "" }, { "id": "MONDO:0012975", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012975", "name": "deafness, autosomal dominant type 3B", "description": "" }, { "id": "MIM:612643", "resource": "MIM", "url": "https://www.omim.org/entry/612643", "name": "Deafness, autosomal dominant, 3B", "description": "Deafness, autosomal dominant, 3B" } ], "evidence": [ { "id": "612643", "database": "MIM", "url": "https://www.omim.org/entry/612643" } ] }, { "disease_id": "DOID:14693", "recommended_name": { "id": "DOID:14693", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14693", "name": "Clouston syndrome", "description": "An ectodermal dysplasia that is characterized by abnormalities of the hair, nails, and skin, with the teeth and sweat glands being unaffected and that has_material_basis_in heterozygous mutation in the GJB6 gene, which encodes connexin-30, on chromosome 13q12." }, "synonyms": [ { "id": "DOID:14693", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14693", "name": "Clouston's hidrotic ectodermal dysplasia", "description": "" }, { "id": "DOID:14693", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14693", "name": "Clouston's syndrome", "description": "" }, { "id": "DOID:14693", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14693", "name": "Hidrotic ectodermal dysplasia syndrome", "description": "" }, { "id": "DOID:14693", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14693", "name": "ectodermal dysplasia 2, Clouston type", "description": "" }, { "id": "DOID:14693", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14693", "name": "hidrotic ectodermal dysplasia", "description": "" }, { "id": "MONDO:0007510", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007510", "name": "Clouston syndrome", "description": "Clouston syndrome (or hidrotic ectodermal dysplasia) is characterized by the clinical triad of nail dystrophy, alopecia, and palmoplantar hyperkeratosis." }, { "id": "MONDO:0007510", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007510", "name": "Clouston syndrome", "description": "" }, { "id": "MONDO:0007510", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007510", "name": "Clouston's hidrotic ectodermal dysplasia", "description": "" }, { "id": "MONDO:0007510", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007510", "name": "Clouston's syndrome", "description": "" }, { "id": "MONDO:0007510", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007510", "name": "hidrotic ectodermal dysplasia", "description": "" }, { "id": "MONDO:0007510", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007510", "name": "hidrotic ectodermal dysplasia syndrome", "description": "" }, { "id": "MONDO:0007510", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007510", "name": "Clouston hidrotic ectodermal dysplasia", "description": "" }, { "id": "MONDO:0007510", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007510", "name": "ED2", "description": "" }, { "id": "MONDO:0007510", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007510", "name": "Patel Bixler syndrome", "description": "" }, { "id": "MONDO:0007510", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007510", "name": "alopecia, dysplastic nails, palmar and plantar hyperkeratosis", "description": "" }, { "id": "MONDO:0007510", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007510", "name": "autosomal dominant hidrotic ectodermal dysplasia", "description": "" }, { "id": "MONDO:0007510", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007510", "name": "ectodermal dysplasia 2, Clouston type", "description": "" }, { "id": "MONDO:0007510", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007510", "name": "ectodermal dysplasia, hidrotic", "description": "" }, { "id": "MONDO:0007510", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007510", "name": "ectodermal dysplasia, hidrotic, 2", "description": "" }, { "id": "MONDO:0007510", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007510", "name": "ectodermal dysplasia, hidrotic, 2, formerly", "description": "" }, { "id": "MONDO:0007510", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007510", "name": "ectodermal dysplasia, hidrotic, autosomal dominant", "description": "" }, { "id": "MONDO:0007510", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007510", "name": "hidrotic ectodermal dysplasia, autosomal dominant", "description": "" }, { "id": "MONDO:0007510", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007510", "name": "palmoplantar hyperkeratosis and alopecia", "description": "" }, { "id": "MIM:129500", "resource": "MIM", "url": "https://www.omim.org/entry/129500", "name": "Ectodermal dysplasia 2, Clouston type", "description": "Ectodermal dysplasia 2, Clouston type" } ], "evidence": [ { "id": "129500", "database": "MIM", "url": "https://www.omim.org/entry/129500" } ] } ], "snv": [], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "50.8", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000121742", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000121742" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "94.47", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000121742", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000121742" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "16.41", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000121742", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000121742" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "47.17", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000121742", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000121742" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "47.3", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000121742", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000121742" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "74.09", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000121742", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000121742" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "64.85", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000121742", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000121742" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "29.8", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000121742", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000121742" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "48.9", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000121742", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000121742" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "47.34", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000121742", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000121742" } ] } ], "expression_disease": [ { "significant": "No", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O95452", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95452" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, 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"https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O95452", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95452" } ], "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": "up", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "O95452", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95452" } ], "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": 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Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O95452", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95452" } ], "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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SV=1 CANONICAL=O95452-1" }, "locus": { "chromosome": "13", "start_pos": 20223480, "end_pos": 20223172, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000645654.1", "url": "https://www.ensembl.org/id/ENST00000645654.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000494720.1", "url": "https://www.ensembl.org/id/ENSP00000494720.1" } ] } }, { "isoform_ac": "A0A2R8Y6N2-1", "url": "", "sequence": { "sequence": "MDWGTLHTFIGGVNKHSTSIGKVWITVIFIFRVMILVVAAQEVWG", "length": 45, "header": "tr|A0A2R8Y6N2-1|CXB6_HUMAN Computationally mapped isoform of Gap junction beta-6 protein OS=Homo sapiens OX=9606 GN=GJB6 PE=1 SV=1 CANONICAL=O95452-1" }, "locus": { "chromosome": "13", "start_pos": 20223480, "end_pos": 20223346, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000642251.1", "url": "https://www.ensembl.org/id/ENST00000642251.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000495437.1", "url": "https://www.ensembl.org/id/ENSP00000495437.1" } ] } }, { "isoform_ac": "A0A2R8YCY0-1", "url": "", "sequence": { "sequence": "MDWGTLHTFIGGVNKHSTSIGKVWITVIFIFRVMILVVAAQEVWGDEQEDFVCNTLQPGCKNVCYDHFFPVSHIRLWA", "length": 78, "header": "tr|A0A2R8YCY0-1|A0A2R8YCY0_HUMAN Computationally mapped isoform of Gap junction protein beta 6 OS=Homo sapiens OX=9606 GN=GJB6 PE=1 SV=1 CANONICAL=O95452-1" }, "locus": { "chromosome": "13", "start_pos": 20223480, "end_pos": 20223247, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000646108.1", "url": "https://www.ensembl.org/id/ENST00000646108.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000493512.1", "url": "https://www.ensembl.org/id/ENSP00000493512.1" } ] } }, { "isoform_ac": "O95452-1", "url": "", "sequence": { "sequence": "MDWGTLHTFIGGVNKHSTSIGKVWITVIFIFRVMILVVAAQEVWGDEQEDFVCNTLQPGCKNVCYDHFFPVSHIRLWALQLIFVSTPALLVAMHVAYYRHETTRKFRRGEKRNDFKDIEDIKKQKVRIEGSLWWTYTSSIFFRIIFEAAFMYVFYFLYNGYHLPWVLKCGIDPCPNLVDCFISRPTEKTVFTIFMISASVICMLLNVAELCYLLLKVCFRRSKRAQTQKNHPNHALKESKQNEMNELISDSGQNAITGFPS", "length": 261, "header": "sp|O95452-1|CXB6_HUMAN Isoform 1 of Gap junction beta-6 protein OS=Homo sapiens OX=9606 GN=GJB6 PE=1 SV=2 CANONICAL=O95452-1" }, "locus": { "chromosome": "13", "start_pos": 20223480, "end_pos": 20222698, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000643211.1", "url": "https://www.ensembl.org/id/ENST00000643211.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000495841.1", "url": "https://www.ensembl.org/id/ENSP00000495841.1" } ] } } ], "glycosylation": [], "phosphorylation": [], "glycation": [], "keywords": [], "publication": [ { "title": "Synthesis and assembly of connexins in vitro into homomeric and heteromeric functional gap junction hemichannels.", "journal": "The Biochemical journal", "date": "1999", "authors": "Ahmad S, Diez JA, George CH, Evans WH", "evidence": [ { "database": "Reactome", "id": "R-HSA-190861", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-190861" } ], "reference": [ { "type": "PubMed", "id": "10191254", "url": "https://glygen.org/publication/PubMed/10191254" } ] }, { "title": "Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus.", "journal": "Nature genetics", "date": "1999", "authors": "Grifa A, Wagner CA, D'Ambrosio L, Melchionda S, Bernardi F, Lopez-Bigas N, Rabionet R, Arbones M, Monica MD, Estivill X, Zelante L, Lang F, Gasparini P", "evidence": [ { "database": "UniProtKB", "id": "O95452", "url": "https://www.uniprot.org/uniprot/O95452" } ], "reference": [ { "type": "PubMed", "id": "10471490", "url": "https://glygen.org/publication/PubMed/10471490" } ] }, { "title": "Human connexin 30 (GJB6), a candidate gene for nonsyndromic hearing loss: molecular cloning, tissue-specific expression, and assignment to chromosome 13q12.", "journal": "Genomics", "date": "1999", "authors": "Kelley PM, Abe S, Askew JW, Smith SD, Usami Si, Kimberling WJ", "evidence": [ { "database": "UniProtKB", "id": "O95452", "url": "https://www.uniprot.org/uniprot/O95452" } ], "reference": [ { "type": "PubMed", "id": "10610709", "url": "https://glygen.org/publication/PubMed/10610709" } ] }, { "title": "Mutations in GJB6 cause hidrotic ectodermal dysplasia.", "journal": "Nature genetics", "date": "2000", "authors": "Lamartine J, Munhoz Essenfelder G, Kibar Z, Lanneluc I, Callouet E, Laoudj D, Lemaitre G, Hand C, Hayflick SJ, Zonana J, Antonarakis S, Radhakrishna U, Kelsell DP, Christianson AL, Pitaval A, Der Kaloustian V, Fraser C, Blanchet-Bardon C, Rouleau GA, Waksman G", "evidence": [ { "database": "UniProtKB", "id": "O95452", "url": "https://www.uniprot.org/uniprot/O95452" } ], "reference": [ { "type": "PubMed", "id": "11017065", "url": "https://glygen.org/publication/PubMed/11017065" } ] }, { "title": "A deletion involving the connexin 30 gene in nonsyndromic hearing impairment.", "journal": "N. Engl. J. Med.", "date": "2002", "authors": "del Castillo Ignacio, Villamar Manuela, Moreno-Pelayo Miguel A, del Castillo Francisco J, Alvarez Araceli, Teller\u00eda Dolores, Men\u00e9ndez Ibis, Moreno Felipe", "evidence": [ { "database": "UniProtKB", "id": "O95452", "url": "https://www.uniprot.org/uniprot/O95452" } ], "reference": [ { "type": "PubMed", "id": "11807148", "url": "https://glygen.org/publication/PubMed/11807148" } ] }, { "title": "A novel connexin 30 mutation in Clouston syndrome.", "journal": "The Journal of investigative dermatology", "date": "2002", "authors": "Smith FJ, Morley SM, McLean WH", "evidence": [ { "database": "UniProtKB", "id": "O95452", "url": "https://www.uniprot.org/uniprot/O95452" } ], "reference": [ { "type": "PubMed", "id": "11874494", "url": "https://glygen.org/publication/PubMed/11874494" } ] }, { "title": "Presence of functional gap junctions in human embryonic stem cells.", "journal": "Stem cells (Dayton, Ohio)", "date": "2004", "authors": "Wong RC, Pebay A, Nguyen LT, Koh KL, Pera MF", "evidence": [ { "database": "Reactome", "id": "R-HSA-190861", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-190861" } ], "reference": [ { "type": "PubMed", "id": "15536180", "url": "https://glygen.org/publication/PubMed/15536180" } ] }, { "title": "Gene structure and promoter analysis of the human GJB6 gene encoding connexin 30.", "journal": "Gene", "date": "2005", "authors": "Essenfelder Guilherme Munhoz, Larderet Ga\u00eblle, Waksman Gilles, Lamartine J\u00e9r\u00f4me", "evidence": [ { "database": "UniProtKB", "id": "O95452", "url": "https://www.uniprot.org/uniprot/O95452" } ], "reference": [ { "type": "PubMed", "id": "15792634", "url": "https://glygen.org/publication/PubMed/15792634" } ] }, { "title": "A novel deletion involving the connexin-30 gene, del(GJB6-d13s1854), found in trans with mutations in the GJB2 gene (connexin-26) in subjects with DFNB1 non-syndromic hearing impairment.", "journal": "J. Med. Genet.", "date": "2005", "authors": "del Castillo F J, Rodr\u00edguez-Ballesteros M, Alvarez A, Hutchin T, Leonardi E, de Oliveira C A, Azaiez H, Brownstein Z, Avenarius M R, Marlin S, Pandya A, Shahin H, Siemering K R, Weil D, Wuyts W, Aguirre L A, Mart\u00edn Y, Moreno-Pelayo M A, Villamar M, Avraham K B, Dahl H-H M, Kanaan M, Nance W E, Petit C, Smith R J H, Van Camp G, Sartorato E L, Murgia A, Moreno F, del Castillo I", "evidence": [ { "database": "UniProtKB", "id": "O95452", "url": "https://www.uniprot.org/uniprot/O95452" } ], "reference": [ { "type": "PubMed", "id": "15994881", "url": "https://glygen.org/publication/PubMed/15994881" } ] }, { "title": "Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries.", "journal": "DNA Res.", "date": "2005", "authors": "Otsuki T, Ota T, Nishikawa T, Hayashi K, Suzuki Y, Yamamoto J, Wakamatsu A, Kimura K, Sakamoto K, Hatano N, Kawai Y, Ishii S, Saito K, Kojima S, Sugiyama T, Ono T, Okano K, Yoshikawa Y, Aotsuka S, Sasaki N, Hattori A, Okumura K, Nagai K, Sugano S, Isogai T", "evidence": [ { "database": "UniProtKB", "id": "O95452", "url": "https://www.uniprot.org/uniprot/O95452" } ], "reference": [ { "type": "PubMed", "id": "16303743", "url": "https://glygen.org/publication/PubMed/16303743" } ] }, { "title": "Connexin43 increases the sensitivity of prostate cancer cells to TNFalpha-induced apoptosis.", "journal": "Journal of cell science", "date": "2007", "authors": "Wang M, Berthoud VM, Beyer EC", "evidence": [ { "database": "Reactome", "id": "R-HSA-190861", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-190861" } ], "reference": [ { "type": "PubMed", "id": "17200141", "url": "https://glygen.org/publication/PubMed/17200141" } ] }, { "title": "Functional analysis of human cardiac gap junction channel mutants.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": 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"Zhan Y, Luo S, Pi Z, Zhang G", "evidence": [ { "database": "RefSeq", "id": "NP_001103689", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001103689" } ], "reference": [ { "type": "PubMed", "id": "32843087", "url": "https://glygen.org/publication/PubMed/32843087" } ] }, { "title": "GJB2 and GJB6 Genetic Variant Curation in an Argentinean Non-Syndromic Hearing-Impaired Cohort.", "journal": "Genes", "date": "2020", "authors": "Buonfiglio P, Bruque CD, Luce L, Giliberto F, Lotersztein V, Menazzi S, Paoli B, Elgoyhen AB, Dalamon V", "evidence": [ { "database": "RefSeq", "id": "NP_001103689", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001103689" } ], "reference": [ { "type": "PubMed", "id": "33096615", "url": "https://glygen.org/publication/PubMed/33096615" } ] }, { "title": "Dysregulation of Connexin Expression Plays a Pivotal Role in Psoriasis.", "journal": "International journal of molecular sciences", "date": "2021", "authors": "O'Shaughnessy EM, Duffy W, Garcia-Vega L, Hussey K, 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