{ "uniprot_canonical_ac": "O75712-1", "uniprot_ac": "O75712", "uniprot_id": "CXB3_HUMAN", "mass": { "chemical_mass": 30818.0, "monoisotopic_mass": 30818.0 }, "refseq": { "ac": "NP_001005752", "name": "gap junction beta-3 protein", "summary": "This gene is a member of the connexin gene family. The encoded protein is a component of gap junctions, which are composed of arrays of intercellular channels that provide a route for the diffusion of low molecular weight materials from cell to cell. Mutations in this gene can cause non-syndromic deafness or erythrokeratodermia variabilis, a skin disorder. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001005752" }, "gene_names": [ { "name": "GJB3", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O75712", "id": "O75712" }, { "name": "CX31; DFNA2; DFNA2B; EKV; EKVP1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001005752", "id": "NP_001005752" }, { "name": "CX31", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O75712", "id": "O75712" }, { "name": "GJB3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001005752", "id": "NP_001005752" } ], "protein_names": [ { "name": "Gap junction beta-3 protein", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O75712" }, { "name": "Connexin-31", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75712" }, { "name": "Cx31", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75712" }, { "name": "connexin 31; gap junction protein, beta 3, 31kDa", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001005752", "id": "NP_001005752" }, { "name": "gap junction beta-3 protein", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001005752", "id": "NP_001005752" } ], "function": [ { "annotation": "Case of erythrokeratodermia variabilis successfully treated with narrowband ultraviolet B.", "evidence": [ { "database": "RefSeq", "id": "NP_001005752", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001005752" }, { "database": "PubMed", "id": "31599015", "url": "https://glygen.org/publication/PubMed/31599015" } ] }, { "annotation": "Four patients were identified to carry the GJB3 mutation in a heterozygous state, including three with c.538C > T and one with c.547G > A", "evidence": [ { "database": "RefSeq", "id": "NP_001005752", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001005752" }, { "database": "PubMed", "id": "31035178", "url": "https://glygen.org/publication/PubMed/31035178" } ] }, { "annotation": "Mutation analysis of GJB2, SLC26A4, GJB3 and mtDNA12SrRNA genes in 251 non-syndromic hearing loss patients in Fujian, China.", "evidence": [ { "database": "RefSeq", "id": "NP_001005752", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001005752" }, { "database": "PubMed", "id": "38029595", "url": "https://glygen.org/publication/PubMed/38029595" } ] }, { "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": "O75712", "url": "https://www.uniprot.org/uniprot/O75712#function" } ] }, { "annotation": "The mutation frequencies of GJB2, GJB3, SLC26A4 and MT-RNR1 of patients with severe to profound sensorineural hearing loss in northwest China.", "evidence": [ { "database": "RefSeq", "id": "NP_001005752", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001005752" }, { "database": "PubMed", "id": "32645618", "url": "https://glygen.org/publication/PubMed/32645618" } ] }, { "annotation": "This gene is a member of the connexin gene family. The encoded protein is a component of gap junctions, which are composed of arrays of intercellular channels that provide a route for the diffusion of low molecular weight materials from cell to cell. Mutations in this gene can cause non-syndromic deafness or erythrokeratodermia variabilis, a skin disorder. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_001005752", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001005752" } ] } ], "disease": [ { "disease_id": "DOID:0050467", "recommended_name": { "id": "DOID:0050467", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050467", "name": "erythrokeratodermia variabilis", "description": "A skin disease that is characterized by areas of sharply demarcated, brown hyperkeratosis and has_material_basis_in mutations in genes encoding for connexin channels proteins in the epidermis." }, "synonyms": [ { "id": "DOID:0050467", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050467", "name": "Erythrokeratodermia Figurata Variabilis", "description": "" }, { "id": "DOID:0050467", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050467", "name": "Greither Disease", "description": "" }, { "id": "MONDO:0033010", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0033010", "name": "erythrokeratodermia variabilis et progressiva 1", "description": "" }, { "id": "MONDO:0033010", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0033010", "name": "EKVP1", "description": "" }, { "id": "MONDO:0033010", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0033010", "name": "Greither disease", "description": "" }, { "id": "MONDO:0033010", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0033010", "name": "erythrokeratodermia Figurata, congenital familial, in plaques", "description": "" }, { "id": "MONDO:0033010", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0033010", "name": "erythrokeratodermia variabilis", "description": "" }, { "id": "MONDO:0033010", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0033010", "name": "erythrokeratodermia variabilis ET progressiva 1", "description": "" }, { "id": "MONDO:0033010", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0033010", "name": "erythrokeratodermia variabilis Et progressiva", "description": "" }, { "id": "MONDO:0033010", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0033010", "name": "erythrokeratodermia variabilis with erythema Gyratum Repens", "description": "" }, { "id": "MONDO:0033010", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0033010", "name": "erythrokeratodermia, progressive symmetric", "description": "" }, { "id": "MONDO:0033010", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0033010", "name": "keratosis palmoplantaris transgrediens Et progrediens", "description": "" }, { "id": "MIM:133200", "resource": "MIM", "url": "https://www.omim.org/entry/133200", "name": "Erythrokeratodermia variabilis et progressiva 1", "description": "Erythrokeratodermia variabilis et progressiva 1" } ], "evidence": [ { "id": "133200", "database": "MIM", "url": "https://www.omim.org/entry/133200" } ] }, { "disease_id": "DOID:0110559", "recommended_name": { "id": "DOID:0110559", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110559", "name": "autosomal dominant nonsyndromic deafness 2B", "description": "An autosomal dominant nonsyndromic deafness that is characterized postlingual onset in the fourth decade of life with by high frequency progressive hearing loss and has_material_basis_in mutation in the GJB3 gene on chromosome 1p34.3." }, "synonyms": [ { "id": "DOID:0110559", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110559", "name": "DFNA2B", "description": "" }, { "id": "DOID:0110559", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110559", "name": "autosomal dominant deafness 2B", "description": "" }, { "id": "MONDO:0012976", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012976", "name": "autosomal dominant nonsyndromic hearing loss 2B", "description": "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the GJB3 gene." }, { "id": "MONDO:0012976", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012976", "name": "DFNA2B", "description": "" }, { "id": "MONDO:0012976", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012976", "name": "GJB3 autosomal dominant nonsyndromic deafness", "description": "" }, { "id": "MONDO:0012976", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012976", "name": "autosomal dominant deafness 2B", "description": "" }, { "id": "MONDO:0012976", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012976", "name": "autosomal dominant nonsyndromic deafness 2B", "description": "" }, { "id": "MONDO:0012976", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012976", "name": "autosomal dominant nonsyndromic deafness caused by mutation in GJB3", "description": "" }, { "id": "MONDO:0012976", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012976", "name": "autosomal dominant nonsyndromic deafness type 2B", "description": "" }, { "id": "MONDO:0012976", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012976", "name": "deafness, autosomal dominant 2B", "description": "" }, { "id": "MONDO:0012976", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012976", "name": "deafness, autosomal dominant 2b", "description": "" }, { "id": "MONDO:0012976", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012976", "name": "deafness, autosomal dominant type 2B", "description": "" }, { "id": "MIM:612644", "resource": "MIM", "url": "https://www.omim.org/entry/612644", "name": "Deafness, autosomal dominant, 2B", "description": "Deafness, autosomal dominant, 2B" } ], "evidence": [ { "id": "612644", "database": "MIM", "url": "https://www.omim.org/entry/612644" } ] }, { "disease_id": "DOID:0111195", "recommended_name": { "id": "DOID:0111195", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111195", "name": "erythrokeratodermia variabilis et progressiva 1", "description": "An erythrokeratodermia variabilis that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in GJB3 on 1p34.3." }, "synonyms": [ { "id": "MONDO:0033010", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0033010", "name": "erythrokeratodermia variabilis et progressiva 1", "description": "" }, { "id": "MONDO:0033010", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0033010", "name": "EKVP1", "description": "" }, { "id": "MONDO:0033010", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0033010", "name": "Greither disease", "description": "" }, { "id": "MONDO:0033010", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0033010", "name": "erythrokeratodermia Figurata, congenital familial, in plaques", "description": "" }, { "id": "MONDO:0033010", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0033010", "name": "erythrokeratodermia variabilis", "description": "" }, { "id": "MONDO:0033010", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0033010", "name": "erythrokeratodermia variabilis ET progressiva 1", "description": "" }, { "id": "MONDO:0033010", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0033010", "name": "erythrokeratodermia variabilis Et progressiva", "description": "" }, { "id": "MONDO:0033010", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0033010", "name": "erythrokeratodermia variabilis with erythema Gyratum Repens", "description": "" }, { "id": "MONDO:0033010", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0033010", "name": "erythrokeratodermia, progressive symmetric", "description": "" }, { "id": "MONDO:0033010", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0033010", "name": "keratosis palmoplantaris transgrediens Et progrediens", "description": "" }, { "id": "MIM:133200", "resource": "MIM", "url": "https://www.omim.org/entry/133200", "name": "Erythrokeratodermia variabilis et progressiva 1", "description": "Erythrokeratodermia variabilis et progressiva 1" } ], "evidence": [ { "id": "133200", "database": "MIM", "url": "https://www.omim.org/entry/133200" } ] } ], "snv": [], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "64.72", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000188910", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000188910" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "87.89", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000188910", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000188910" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "65.65", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000188910", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000188910" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "49.96", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000188910", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000188910" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "52.13", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000188910", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000188910" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "77.51", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000188910", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000188910" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "68.16", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000188910", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000188910" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "69.52", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000188910", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000188910" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "51.31", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000188910", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000188910" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "64.88", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000188910", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000188910" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "60.18", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000188910", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000188910" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "70.55", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000188910", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000188910" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "56.53", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000188910", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000188910" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O75712", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75712" } ], "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": "No", "trend": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O75712", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75712" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor 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"https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", 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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", 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Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O75712", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75712" } ], "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/O75712" } ], "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": "down", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ 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"Genome Annotation" ] }, { "id": "4285", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=4285", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "O75712", "url": "https://www.ebi.ac.uk/intact/interactors/id:O75712*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR000500", "url": "https://www.ebi.ac.uk/interpro/entry/IPR000500", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR002269", "url": "https://www.ebi.ac.uk/interpro/entry/IPR002269", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR013092", "url": "https://www.ebi.ac.uk/interpro/entry/IPR013092", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR017990", "url": "https://www.ebi.ac.uk/interpro/entry/IPR017990", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR019570", "url": "https://www.ebi.ac.uk/interpro/entry/IPR019570", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR038359", "url": "https://www.ebi.ac.uk/interpro/entry/IPR038359", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:2707", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:2707", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "133200", "url": "http://www.omim.org/entry/133200", "database": "MIM", "categories": [ "Other" ] }, { "id": "603324", "url": "http://www.omim.org/entry/603324", "database": "MIM", "categories": [ "Other" ] }, { "id": "612644", "url": "http://www.omim.org/entry/612644", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_O75712", "url": "https://www.nextprot.org/entry/NX_O75712", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "QCTKLYD", "url": "https://omabrowser.org/oma/group/QCTKLYD/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "5301774at2759", "url": "http://www.orthodb.org/?query=5301774at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR11984", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11984", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR11984:SF65", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11984:SF65", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF00029", "url": "http://pfam.xfam.org/family/PF00029", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "O75712", "url": "https://pharos.nih.gov/targets/O75712", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_O75712", "url": "http://purl.obolibrary.org/obo/PR_O75712", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-190861", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-190861", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_001005752", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001005752", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "O75712", "url": "https://www.uniprot.org/uniprot/O75712", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75712-1", "url": "https://www.uniprot.org/uniprot/O75712-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MDWKTLQALLSGVNKYSTAFGRIWLSVVFVFRVLVYVVAAERVWGDEQKDFDCNTKQPGCTNVCYDNYFPISNIRLWALQLIFVTCPSLLVILHVAYREERERRHRQKHGDQCAKLYDNAGKKHGGLWWTYLFSLIFKLIIEFLFLYLLHTLWHGFNMPRLVQCANVAPCPNIVDCYIARPTEKKIFTYFMVGASAVCIVLTICELCYLICHRVLRGLHKDKPRGGCSPSSSASRASTCRCHHKLVEAGEVDPDPGNNKLQASAPNLTPI", "length": 270, "header": "sp|O75712-1|CXB3_HUMAN Isoform 1 of Gap junction beta-3 protein OS=Homo sapiens OX=9606 GN=GJB3 PE=1 SV=1 CANONICAL=O75712-1" }, "isoforms": [ { "isoform_ac": "O75712-1", "url": "", "sequence": { "sequence": "MDWKTLQALLSGVNKYSTAFGRIWLSVVFVFRVLVYVVAAERVWGDEQKDFDCNTKQPGCTNVCYDNYFPISNIRLWALQLIFVTCPSLLVILHVAYREERERRHRQKHGDQCAKLYDNAGKKHGGLWWTYLFSLIFKLIIEFLFLYLLHTLWHGFNMPRLVQCANVAPCPNIVDCYIARPTEKKIFTYFMVGASAVCIVLTICELCYLICHRVLRGLHKDKPRGGCSPSSSASRASTCRCHHKLVEAGEVDPDPGNNKLQASAPNLTPI", "length": 270, "header": "sp|O75712-1|CXB3_HUMAN Isoform 1 of Gap junction beta-3 protein OS=Homo sapiens OX=9606 GN=GJB3 PE=1 SV=1 CANONICAL=O75712-1" }, "locus": { "chromosome": "1", "start_pos": 34785572, "end_pos": 34784763, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000373362.3", "url": "https://www.ensembl.org/id/ENST00000373362.3" }, { "database": "Ensembl Peptide", "id": "ENSP00000362460.3", "url": "https://www.ensembl.org/id/ENSP00000362460.3" } ] } } ], "glycosylation": [], "phosphorylation": [ { "start_pos": 228, "end_pos": 228, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O75712", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75712" }, { "database": "PubMed", "id": "18767875", "url": "https://glygen.org/publication/PubMed/18767875" } ], "site_lbl": "Ser228" } ], "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 connexin31 underlie recessive as well as dominant non-syndromic hearing loss.", "journal": "Human molecular genetics", "date": "2000-01-01", "authors": "Liu X Z, Xia X J, Xu L R, Pandya A, Liang C Y, Blanton S H, Brown S D, Steel K P, Nance W E", "evidence": [ { "database": "UniProtKB", "id": "O75712", "url": "https://www.uniprot.org/uniprot/O75712" } ], "reference": [ { "type": "PubMed", "id": "10587579", "url": "https://glygen.org/publication/PubMed/10587579" } ] }, { "title": "Identification of a novel mutation R42P in the gap junction protein beta-3 associated with autosomal dominant erythrokeratoderma variabilis.", "journal": "The Journal of investigative dermatology", "date": "1999", "authors": "Wilgoss A, Leigh IM, Barnes MR, Dopping-Hepenstal P, Eady RA, Walter JM, Kennedy CT, Kelsell DP", "evidence": [ { "database": "UniProtKB", "id": "O75712", "url": "https://www.uniprot.org/uniprot/O75712" } ], "reference": [ { "type": "PubMed", "id": "10594760", "url": "https://glygen.org/publication/PubMed/10594760" } ] }, { "title": "Connexin mutations associated with palmoplantar keratoderma and profound deafness in a single family.", "journal": "Eur. J. Hum. Genet.", "date": "2000", "authors": "Kelsell DP, Wilgoss AL, Richard G, Stevens HP, Munro CS, Leigh IM", "evidence": [ { "database": "UniProtKB", "id": "O75712", "url": "https://www.uniprot.org/uniprot/O75712" } ], "reference": [ { "type": "PubMed", "id": "10757647", "url": "https://glygen.org/publication/PubMed/10757647" } ] }, { "title": "Identification of seven novel SNPS (five nucleotide and two amino acid substitutions) in the connexin31 (GJB3) gene.", "journal": "Hum. Mutat.", "date": "2000", "authors": "L\u00f3pez-Bigas N, Rabionet R, Mart\u00ednez E, Banchs I, Volpini V, Vance J M, Arbon\u00e9s M L, Estivill X", "evidence": [ { "database": "UniProtKB", "id": "O75712", "url": "https://www.uniprot.org/uniprot/O75712" } ], "reference": [ { "type": "PubMed", "id": "10790215", "url": "https://glygen.org/publication/PubMed/10790215" } ] }, { "title": "The spectrum of mutations in erythrokeratodermias--novel and de novo mutations in GJB3.", "journal": "Human genetics", "date": "2000", "authors": "Richard G, Brown N, Smith LE, Terrinoni A, Melino G, Mackie RM, Bale SJ, Uitto J", "evidence": [ { "database": "UniProtKB", "id": "O75712", "url": "https://www.uniprot.org/uniprot/O75712" } ], "reference": [ { "type": "PubMed", "id": "10798362", "url": "https://glygen.org/publication/PubMed/10798362" } ] }, { "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": "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": "1991", "authors": "Fishman GI, Moreno AP, Spray DC, Leinwand LA", "evidence": [ { "database": "Reactome", "id": "R-HSA-190861", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-190861" } ], "reference": [ { "type": "PubMed", "id": "1850831", "url": "https://glygen.org/publication/PubMed/1850831" } ] }, { "title": "Successive and selective release of phosphorylated peptides captured by hydroxy acid-modified metal oxide chromatography.", "journal": "Journal of proteome research", "date": "2008", "authors": "Kyono Y, Sugiyama N, Imami K, Tomita M, Ishihama Y", "evidence": [ { "database": "iPTMnet", "id": "O75712", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75712" } ], "reference": [ { "type": "PubMed", "id": "18767875", "url": "https://glygen.org/publication/PubMed/18767875" } ] }, { "title": "Connexin mutations in Brazilian patients with skin disorders with or without hearing loss.", "journal": "Am. J. Med. Genet. A", "date": "2009", "authors": "Alexandrino F, de Oliveira CA, Magalhaes RF, Florence ME, de Souza EM, Sartorato EL", "evidence": [ { "database": "UniProtKB", "id": "O75712", "url": "https://www.uniprot.org/uniprot/O75712" } ], "reference": [ { "type": "PubMed", "id": "19283857", "url": "https://glygen.org/publication/PubMed/19283857" } ] }, { "title": "Mutation analysis of common deafness-causing genes among 506 patients with nonsyndromic hearing loss from Wenzhou city, China.", "journal": "International journal of pediatric otorhinolaryngology", "date": "2019", "authors": "Xiang YB, Tang SH, Li HZ, Xu CY, Chen C, Xu YZ, Ding LR, Xu XQ", "evidence": [ { "database": "RefSeq", "id": "NP_001005752", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001005752" } ], "reference": [ { "type": "PubMed", "id": "31035178", "url": "https://glygen.org/publication/PubMed/31035178" } ] }, { "title": "Case of erythrokeratodermia variabilis successfully treated with narrowband ultraviolet B.", "journal": "The Journal of dermatology", "date": "2020", "authors": "Okuda K, Nishida E, Tori K, Matubara A, Sagawa Y, Takeichi T, Akiyama M, Morita A", "evidence": [ { "database": "RefSeq", "id": "NP_001005752", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001005752" } ], "reference": [ { "type": "PubMed", "id": "31599015", "url": "https://glygen.org/publication/PubMed/31599015" } ] }, { "title": "The mutation frequencies of GJB2, GJB3, SLC26A4 and MT-RNR1 of patients with severe to profound sensorineural hearing loss in northwest China.", "journal": "International journal of pediatric otorhinolaryngology", "date": "2020", "authors": "Liu XW, Wang JC, Wang SY, Li SJ, Zhu YM, Ding WJ, Xu CY, Duan L, Xu BC, Guo YF", "evidence": [ { "database": "RefSeq", "id": "NP_001005752", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001005752" } ], "reference": [ { "type": "PubMed", "id": "32645618", "url": "https://glygen.org/publication/PubMed/32645618" } ] }, { "title": "Mutation analysis of GJB2, SLC26A4, GJB3 and mtDNA12SrRNA genes in 251 non-syndromic hearing loss patients in Fujian, China.", "journal": "International journal of pediatric otorhinolaryngology", "date": "2024-01", "authors": "Xiong Yikang, Chen Meihuan, Wang Haiwei, Chen Lingji, Huang Hailong, Xu Liangpu", "evidence": [ { "database": "RefSeq", "id": "NP_001005752", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001005752" } ], "reference": [ { "type": "PubMed", "id": "38029595", "url": "https://glygen.org/publication/PubMed/38029595" } ] }, { "title": "Membrane insertion of gap junction connexins: polytopic channel forming membrane proteins.", "journal": "The Journal of cell biology", "date": "1994", "authors": "Falk MM, Kumar NM, Gilula NB", "evidence": [ { "database": "Reactome", "id": "R-HSA-190861", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-190861" } ], "reference": [ { "type": "PubMed", "id": "7929580", "url": "https://glygen.org/publication/PubMed/7929580" } ] }, { "title": "Human gap junction protein connexin31: molecular cloning and expression analysis.", "journal": "Biochem. Biophys. Res. Commun.", "date": "1998", "authors": "Wenzel K, Manthey D, Willecke K, Grzeschik KH, Traub O", "evidence": [ { "database": "UniProtKB", "id": "O75712", "url": "https://www.uniprot.org/uniprot/O75712" } ], "reference": [ { "type": "PubMed", "id": "9704026", "url": "https://glygen.org/publication/PubMed/9704026" } ] }, { "title": "Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis.", "journal": "Nature genetics", "date": "1998", "authors": "Richard G, Smith LE, Bailey RA, Itin P, Hohl D, Epstein EH Jr, DiGiovanna JJ, Compton JG, Bale SJ", "evidence": [ { "database": "UniProtKB", "id": "O75712", "url": "https://www.uniprot.org/uniprot/O75712" } ], "reference": [ { "type": "PubMed", "id": "9843209", "url": "https://glygen.org/publication/PubMed/9843209" } ] }, { "title": "Mutations in the gene encoding gap junction protein beta-3 associated with autosomal dominant hearing impairment.", "journal": "Nature genetics", "date": "1998", "authors": "Xia JH, Liu CY, Tang BS, Pan Q, Huang L, Dai HP, Zhang BR, Xie W, Hu DX, Zheng D, Shi XL, Wang DA, Xia K, Yu KP, Liao XD, Feng Y, Yang YF, Xiao JY, Xie DH, Huang JZ", "evidence": [ { "database": "UniProtKB", "id": "O75712", "url": "https://www.uniprot.org/uniprot/O75712" } ], "reference": [ { "type": "PubMed", "id": "9843210", "url": "https://glygen.org/publication/PubMed/9843210" } ] } ], "pathway": [ { "id": "hsa:2707", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:2707", "resource": "KEGG Pathway" }, { "id": "R-HSA-190861", "name": "Gap junction assembly", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-190861", "resource": "Reactome", "description": "Gap junction assembly" } ], "orthologs": [ { "uniprot_canonical_ac": "P25305-1", "protein_name": "Gap junction beta-3 protein", "gene_name": "Gjb3", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": 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