{ "uniprot_canonical_ac": "Q9H5P4-3", "uniprot_ac": "Q9H5P4", "uniprot_id": "PDZD7_HUMAN", "mass": { "chemical_mass": 111752.0, "monoisotopic_mass": 111752.0 }, "refseq": { "ac": "NP_001182192", "name": "PDZ domain-containing protein 7 isoform 1", "summary": "This gene encodes a ciliary protein homologous to proteins which are mutated in Usher syndrome patients, and mutations and translocations involving this gene have been associated with two types of Usher syndrome. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2010].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001182192" }, "gene_names": [ { "name": "PDZD7", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/Q9H5P4", "id": "Q9H5P4" }, { "name": "DFNB57; PDZK7", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001182192", "id": "NP_001182192" }, { "name": "PDZD7", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001182192", "id": "NP_001182192" }, { "name": "PDZK7", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q9H5P4", "id": "Q9H5P4" } ], "protein_names": [ { "name": "PDZ domain-containing protein 7", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "Q9H5P4" }, { "name": "PDZ domain-containing protein 7 isoform 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001182192", "id": "NP_001182192" }, { "name": "PDZ domain-containing protein 7; deafness, autosomal recessive 57", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001182192", "id": "NP_001182192" } ], "function": [ { "annotation": "In cochlear developing hair cells, essential in organizing the USH2 complex at stereocilia ankle links. Blocks inhibition of adenylate cyclase activity mediated by ADGRV1.", "evidence": [ { "database": "UniProtKB", "id": "Q9H5P4", "url": "https://www.uniprot.org/uniprot/Q9H5P4#function" }, { "database": "UniProtKB", "id": "E9Q9W7", "url": "https://www.uniprot.org/uniprot/E9Q9W7#function" } ] }, { "annotation": "Lnc-PDZD7 promotes stemness properties and suppresses chemosensitivity though the miR-101/EZH2/ATOH8 pathway. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001182192", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001182192" }, { "database": "PubMed", "id": "30786928", "url": "https://glygen.org/publication/PubMed/30786928" } ] }, { "annotation": "Novel homozygous variant in the PDZD7 gene in a family with nonsyndromic sensorineural hearing loss. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001182192", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001182192" }, { "database": "PubMed", "id": "35715776", "url": "https://glygen.org/publication/PubMed/35715776" } ] }, { "annotation": "PDZD7 can be an important causative gene for moderate to severe ARNSHL in Koreans. Moreover, at least some, if not all, p.Arg164Trp alleles in Koreans could exert a potential founder effect and arise from diverse haplotypes as a mutational hot spot. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001182192", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001182192" }, { "database": "PubMed", "id": "31454969", "url": "https://glygen.org/publication/PubMed/31454969" } ] }, { "annotation": "PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome.", "evidence": [ { "database": "RefSeq", "id": "NP_001182192", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001182192" }, { "database": "PubMed", "id": "20440071", "url": "https://glygen.org/publication/PubMed/20440071" } ] }, { "annotation": "PDZD7 is a new autosomal-recessive deafness-causing gene and a prime candidate gene for Usher syndrome.", "evidence": [ { "database": "RefSeq", "id": "NP_001182192", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001182192" }, { "database": "PubMed", "id": "19028668", "url": "https://glygen.org/publication/PubMed/19028668" } ] }, { "annotation": "PDZD7 is a scaffolding component of the ankle-link complex in stereocilia and is associated with the Usher syndrome protein network.", "evidence": [ { "database": "RefSeq", "id": "NP_001182192", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001182192" }, { "database": "PubMed", "id": "23055499", "url": "https://glygen.org/publication/PubMed/23055499" } ] }, { "annotation": "This gene encodes a ciliary protein homologous to proteins which are mutated in Usher syndrome patients, and mutations and translocations involving this gene have been associated with two types of Usher syndrome. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2010].", "evidence": [ { "database": "RefSeq", "id": "NP_001182192", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001182192" } ] }, { "annotation": "This is the first report to identify PDZD7 as an ARNSHL-associated gene in the Chinese population. Our finding could expand the pathogenic spectrum and strengthens the clinical diagnostic role of the PDZD7 gene in ARNSHL patients.", "evidence": [ { "database": "RefSeq", "id": "NP_001182192", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001182192" }, { "database": "PubMed", "id": "29048736", "url": "https://glygen.org/publication/PubMed/29048736" } ] }, { "annotation": "Three mutations in PDZD7 gene linked to autosomal recessive non-syndromic hearing loss (ARNSHL) were identified in a Chinese pedigree. The findings expand not only our knowledge of genetic causes of ARNSHL, but also PDZD7 genes mutation spectrum of the disease. They will aid personalized genetic counseling, molecular diagnostics and clinical management of this condition.", "evidence": [ { "database": "RefSeq", "id": "NP_001182192", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001182192" }, { "database": "PubMed", "id": "31129248", "url": "https://glygen.org/publication/PubMed/31129248" } ] } ], "disease": [ { "disease_id": "DOID:0110838", "recommended_name": { "id": "DOID:0110838", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110838", "name": "Usher syndrome type 2A", "description": "An Usher syndrome type 2 characterized by moderate to severe sensorineural hearing loss, mainly affecting perception of high frequency sounds and progressive retinitis pigmentosa that has_material_basis_in homozygous or compound heterozygous mutation in the USH2A gene on chromosome 1q41." }, "synonyms": [ { "id": "DOID:0110838", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110838", "name": "USH2A", "description": "" }, { "id": "DOID:0110838", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110838", "name": "Usher syndrome type IIA", "description": "" }, { "id": "MONDO:0010169", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010169", "name": "Usher syndrome type 2A", "description": "Any Usher syndrome in which the cause of the disease is a mutation in the USH2A gene." }, { "id": "MONDO:0010169", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010169", "name": "USH2A", "description": "" }, { "id": "MONDO:0010169", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010169", "name": "USH2A Usher syndrome", "description": "" }, { "id": "MONDO:0010169", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010169", "name": "Usher syndrome caused by mutation in USH2A", "description": "" }, { "id": "MONDO:0010169", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010169", "name": "Usher syndrome type 2A", "description": "" }, { "id": "MONDO:0010169", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010169", "name": "Usher syndrome type IIA", "description": "" }, { "id": "MONDO:0010169", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010169", "name": "retinal disease in usher syndrome type IIA, modifier of", "description": "" }, { "id": "MONDO:0010169", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010169", "name": "US2", "description": "" }, { "id": "MONDO:0010169", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010169", "name": "USHER syndrome, type IIA", "description": "" }, { "id": "MONDO:0010169", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010169", "name": "Usher syndrome, type 2A", "description": "" }, { "id": "MIM:276901", "resource": "MIM", "url": "https://www.omim.org/entry/276901", "name": "Usher syndrome 2A", "description": "Usher syndrome 2A" } ], "evidence": [ { "id": "276901", "database": "MIM", "url": "https://www.omim.org/entry/276901" } ] }, { "disease_id": "DOID:0110839", "recommended_name": { "id": "DOID:0110839", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110839", "name": "Usher syndrome type 2C", "description": "An Usher syndrome type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the ADGRV1 gene on chromosome 5q14." }, "synonyms": [ { "id": "DOID:0110839", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110839", "name": "USH2C", "description": "" }, { "id": "DOID:0110839", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110839", "name": "Usher syndrome type IIC", "description": "" }, { "id": "DOID:0110839", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110839", "name": "Usher syndrome IIC", "description": "" }, { "id": "MONDO:0011558", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011558", "name": "Usher syndrome type 2C", "description": "A form of Usher syndrome type 2 that features a heterozygous frameshift mutation in the GPR98 gene and a heterozygous frameshift mutation in the PDZD7 gene. It is inherited in an autosomal recessive manner." }, { "id": "MONDO:0011558", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011558", "name": "USH2C", "description": "" }, { "id": "MONDO:0011558", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011558", "name": "Usher syndrome type IIC", "description": "" }, { "id": "MONDO:0011558", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011558", "name": "Usher syndrome, type 2C, GPR98/PDZD7 digenic, autosomal recessive, digenic dominant", "description": "" }, { "id": "MONDO:0011558", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011558", "name": "Usher syndrome, type 2C, autosomal recessive, digenic dominant", "description": "" }, { "id": "MONDO:0011558", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011558", "name": "Usher syndrome, type IIC, GPR98/PDZD7 digenic, autosomal recessive, digenic dominant", "description": "" }, { "id": "MONDO:0011558", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011558", "name": "USHER syndrome, type IIC", "description": "" }, { "id": "MONDO:0011558", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011558", "name": "Usher syndrome, type 2C", "description": "" }, { "id": "MONDO:0011558", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011558", "name": "Usher syndrome, type IIb", "description": "" }, { "id": "MONDO:0011558", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011558", "name": "Usher syndrome, type IIb, formerly", "description": "" }, { "id": "MONDO:0011558", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011558", "name": "Usher syndrome, type IIc, Gpr98/Pdzd7, digenic", "description": "" }, { "id": "MIM:605472", "resource": "MIM", "url": "https://www.omim.org/entry/605472", "name": "Usher syndrome 2C", "description": "Usher syndrome 2C" } ], "evidence": [ { "id": "605472", "database": "MIM", "url": "https://www.omim.org/entry/605472" } ] }, { "disease_id": "DOID:0111635", "recommended_name": { "id": "DOID:0111635", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111635", "name": "autosomal recessive nonsyndromic deafness 57", "description": "An autosomal recessive nonsyndromic deafness characterized by symmetric bilateral moderate to severe hearing loss that has_material_basis_in homozygous or compound heterozygous mutation in the PDZD7 gene on chromosome 10q24.31." }, "synonyms": [ { "id": "DOID:0111635", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111635", "name": "DFNB57", "description": "" }, { "id": "DOID:0111635", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111635", "name": "autosomal recessive deafness 57", "description": "" }, { "id": "MONDO:0033201", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0033201", "name": "hearing loss, autosomal recessive 57", "description": "" }, { "id": "MONDO:0033201", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0033201", "name": "DFNB57", "description": "" }, { "id": "MONDO:0033201", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0033201", "name": "deafness, autosomal recessive 57", "description": "" }, { "id": "MIM:618003", "resource": "MIM", "url": "https://www.omim.org/entry/618003", "name": "Deafness, autosomal recessive, 57", "description": "Deafness, autosomal recessive, 57" } ], "evidence": [ { "id": "618003", "database": "MIM", "url": "https://www.omim.org/entry/618003" } ] } ], "snv": [], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "60.64", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000186862", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000186862" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "41.27", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000186862", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000186862" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "59.2", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000186862", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000186862" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "71.52", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000186862", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000186862" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "64.1", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000186862", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000186862" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "50.62", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000186862", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000186862" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "63.21", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000186862", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000186862" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "52.11", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000186862", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000186862" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "59.47", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000186862", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000186862" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "60.85", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000186862", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000186862" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "45.16", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000186862", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000186862" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "59.13", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000186862", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000186862" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "62", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000186862", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000186862" } ] } ], "expression_disease": [ { "significant": "No", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "Q9H5P4", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q9H5P4" } ], "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", 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"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, 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"https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", 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"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": "Q9H5P4", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q9H5P4" } ], "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", 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"malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H5P4", "url": "https://www.uniprot.org/uniprot/Q9H5P4" } ], "common_name": "Human" } ], "gene": [ { "name": "PDZD7", "url": "https://www.uniprot.org/uniprot/Q9H5P4", "locus": { "chromosome": "10", "start_pos": 101007679, "end_pos": 101032295, "strand": "+", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000186862", "url": "https://www.ensembl.org/id/ENSG00000186862" } ] } } ], "crossref": [ { "id": "ENSG00000186862", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000186862", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "cd00992", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd00992", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "cd07358", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd07358", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "PDZD7", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDZD7", "database": "GeneCards", "categories": [ "Organism-specific", "Gene Annotation" ] }, { "id": "79955", "url": "https://www.ncbi.nlm.nih.gov/gene/79955", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "26257", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=26257", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "Q9H5P4", "url": "https://www.ebi.ac.uk/intact/interactors/id:Q9H5P4*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR001478", "url": "https://www.ebi.ac.uk/interpro/entry/IPR001478", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR036034", "url": "https://www.ebi.ac.uk/interpro/entry/IPR036034", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR042786", "url": "https://www.ebi.ac.uk/interpro/entry/IPR042786", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:79955", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:79955", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "276901", "url": "http://www.omim.org/entry/276901", "database": "MIM", "categories": [ "Other" ] }, { "id": "605472", "url": "http://www.omim.org/entry/605472", "database": "MIM", "categories": [ "Other" ] }, { "id": "612971", "url": "http://www.omim.org/entry/612971", "database": "MIM", "categories": [ "Other" ] }, { "id": "618003", "url": "http://www.omim.org/entry/618003", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_Q9H5P4", "url": "https://www.nextprot.org/entry/NX_Q9H5P4", "database": "neXtProt", "categories": [ "Organism-specific", "Protein" ] }, { "id": "Q9H5P4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9H5P4", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "LPVNGFP", "url": "https://omabrowser.org/oma/group/LPVNGFP/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "2962072at2759", "url": "http://www.orthodb.org/?query=2962072at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR23116", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR23116", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR23116:SF29", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR23116:SF29", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "2EEH", "url": "https://www.rcsb.org/structure/2EEH", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7PC5", "url": "https://www.rcsb.org/structure/7PC5", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF00595", "url": "http://pfam.xfam.org/family/PF00595", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "Q9H5P4", "url": "https://pharos.nih.gov/targets/Q9H5P4", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_Q9H5P4", "url": "http://purl.obolibrary.org/obo/PR_Q9H5P4", "database": "PRO", "categories": [ "Protein" ] }, { "id": "NP_001182192", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001182192", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "Q9H5P4", "url": "https://www.uniprot.org/uniprot/Q9H5P4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q9H5P4-1", "url": "https://www.uniprot.org/uniprot/Q9H5P4-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q9H5P4-2", "url": "https://www.uniprot.org/uniprot/Q9H5P4-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q9H5P4-3", "url": "https://www.uniprot.org/uniprot/Q9H5P4-3", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MAQGFAVGFDPLGLGDLSSGSLSSLSSRGHLGSDSGSTATRYLLRKQQRLLNGPPRGIRASSPMGRVILINSPIEANSDESDIIHSVRVEKSPAGRLGFSVRGGSEHGLGIFVSKVEEGSSAERAGLCVGDKITEVNGLSLESTTMGSAVKVLTSSSRLHMMVRRMGRVPGIKFSKEKTTWVDVVNRRLVVEKCGSTPSDTSSEDGVRRIVHLYTTSDDFCLGFNIRGGKEFGLGIYVSKVDHGGLAEENGIKVGDQVLAANGVRFDDISHSQAVEVLKGQTHIMLTIKETGRYPAYKEMVSEYCWLDRLSNGVLQQLSPASESSSSVSSCASSAPYSSGSLPSDRMDICLGQEEPGSRGPGWGRADTAMQTEPDAGGRVETWCSVRPTVILRDTAIRSDGPHPGRRLDSALSESPKTALLLALSRPRPPITRSQSYLTLWEEKQQRKKEKSGSPGEKGALQRSKTLMNLFFKGGRQGRLARDGRREAWTLDSGSLAKTYPRLDIEKAGGVGPVQKFVTWRLRRDQERGRALLSARSGSPSSQLPNVDEQVQAWESRRPLIQDLAQRLLTDDEVLAVTRHCSRYVHEGGIEDLVRPLLAILDRPEKLLLLQDIRSVVAPTDLGRFDSMVMLVELEAFEALKSRAVRPPALRPARQDTPPKRHLITPVPDSRGGFYLLPVNGFPEEEDNGELRERLGALKVSPSASAPRHPHKGIPPLQDVPVDAFTPLRIACTPPPQLPPVAPRPLRPNWLLTEPLSREHPPQSQIRGRAQSRSRSRSRSRSRSSRGQGKSPGRRSPSPVPTPAPSMTNGRYHKPRKARPPLPRPLDGEAAKVGAKQGPSESGTEGTAKEAAMKNPSGELKTVTLSKMKQSLGISISGGIESKVQPMVKIEKIFPGGAAFLSGALQAGFELVAVDGENLEQVTHQRAVDTIRRAYRNKAREPMELVVRVPGPSPRPSPSDSSALTDGGLPADHLPAHQPLDAAPVPAHWLPEPPTNPQTPPTDARLLQPTPSPAPSPALQTPDSKPAPSPRIP", "length": 1033, "header": "sp|Q9H5P4-3|PDZD7_HUMAN Isoform 3 of PDZ domain-containing protein 7 OS=Homo sapiens OX=9606 GN=PDZD7 PE=1 SV=2 CANONICAL=Q9H5P4-3" }, "isoforms": [ { "isoform_ac": "Q9H5P4-1", "url": "", "sequence": { "sequence": "MAQGFAVGFDPLGLGDLSSGSLSSLSSRGHLGSDSGSTATRYLLRKQQRLLNGPPRGIRASSPMGRVILINSPIEANSDESDIIHSVRVEKSPAGRLGFSVRGGSEHGLGIFVSKVEEGSSAERAGLCVGDKITEVNGLSLESTTMGSAVKVLTSSSRLHMMVRRMGRVPGIKFSKEKTTWVDVVNRRLVVEKCGSTPSDTSSEDGVRRIVHLYTTSDDFCLGFNIRGGKEFGLGIYVSKVDHGGLAEENGIKVGDQVLAANGVRFDDISHSQAVEVLKGQTHIMLTIKETGRYPAYKEMVSEYCWLDRLSNGVLQQLSPASESSSSVSSCASSAPYSSGSLPSDRMDICLGQEEPGSRGPGWGRADTAMQTEPDAGGRVETWCSVRPTVILRDTAIRSDGPHPGRRLDSALSESPKTALLLALSRPRPPITRSQSYLTLWEEKQQRKKEKSGSPGEKGALQRSKTLMNLFFKGGRQGRLARDGRREAWTLDSGSLAKTYPRLDIEKEMGVSPCCPG", "length": 517, "header": "sp|Q9H5P4-1|PDZD7_HUMAN Isoform 1 of PDZ domain-containing protein 7 OS=Homo sapiens OX=9606 GN=PDZD7 PE=1 SV=2 CANONICAL=Q9H5P4-3" }, "locus": { "chromosome": "10", "start_pos": 101030219, "end_pos": 101017587, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000370215.7", "url": "https://www.ensembl.org/id/ENST00000370215.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000359234.3", "url": "https://www.ensembl.org/id/ENSP00000359234.3" } ] } }, { "isoform_ac": "Q9H5P4-2", "url": "", "sequence": { "sequence": "MAQGFAVGFDPLGLGDLSSGSLSSLSSRGHLGSDSGSTATRYLLRKQQRLLNGPPRGIRASSPMGRVILINSPIEANSDESDIIHSVRVEKSPAGRLGFSVRGGSEHGLGIFVSKVEEGSSAERAGLCVGDKITEVNGLSLESTTMGSAVKVLTSSSRLHMMVRRMGRVPGIKFSKEKTTWVDVVNRRLVVEKCGSTPSDTSSEDGVRRIVHLYTTSDDFCLGFNIRGGKEFGLGIYVSKVDHGGLAEENGIKVGDQVLAANGVRFDDISHSQAVEVLKGQTHIMLTIKETGRYPAYKEMVSEYCWLDRLSNGVLQQLSPASESSSSVSSCASSAPYSSGSLPSDRMDICLGQEEPGSRGPGWGRADTAMQTEPDAGGRVETWCSVRPTVILRDTAIRSDGPHPGRRLDSALSESPKTALLLALSRPRPPITRSQSYLTLWEEKQQRKKEKSGSPGEKGALQRSKTLMNLFFKGGRQGRLARDGRREAWTLDSGSLAKTYPRLDIEKEMGAT", "length": 512, "header": "sp|Q9H5P4-2|PDZD7_HUMAN Isoform 2 of PDZ domain-containing protein 7 OS=Homo sapiens OX=9606 GN=PDZD7 PE=1 SV=2 CANONICAL=Q9H5P4-3" }, "locus": {} }, { "isoform_ac": "Q9H5P4-3", "url": "", "sequence": { "sequence": "MAQGFAVGFDPLGLGDLSSGSLSSLSSRGHLGSDSGSTATRYLLRKQQRLLNGPPRGIRASSPMGRVILINSPIEANSDESDIIHSVRVEKSPAGRLGFSVRGGSEHGLGIFVSKVEEGSSAERAGLCVGDKITEVNGLSLESTTMGSAVKVLTSSSRLHMMVRRMGRVPGIKFSKEKTTWVDVVNRRLVVEKCGSTPSDTSSEDGVRRIVHLYTTSDDFCLGFNIRGGKEFGLGIYVSKVDHGGLAEENGIKVGDQVLAANGVRFDDISHSQAVEVLKGQTHIMLTIKETGRYPAYKEMVSEYCWLDRLSNGVLQQLSPASESSSSVSSCASSAPYSSGSLPSDRMDICLGQEEPGSRGPGWGRADTAMQTEPDAGGRVETWCSVRPTVILRDTAIRSDGPHPGRRLDSALSESPKTALLLALSRPRPPITRSQSYLTLWEEKQQRKKEKSGSPGEKGALQRSKTLMNLFFKGGRQGRLARDGRREAWTLDSGSLAKTYPRLDIEKAGGVGPVQKFVTWRLRRDQERGRALLSARSGSPSSQLPNVDEQVQAWESRRPLIQDLAQRLLTDDEVLAVTRHCSRYVHEGGIEDLVRPLLAILDRPEKLLLLQDIRSVVAPTDLGRFDSMVMLVELEAFEALKSRAVRPPALRPARQDTPPKRHLITPVPDSRGGFYLLPVNGFPEEEDNGELRERLGALKVSPSASAPRHPHKGIPPLQDVPVDAFTPLRIACTPPPQLPPVAPRPLRPNWLLTEPLSREHPPQSQIRGRAQSRSRSRSRSRSRSSRGQGKSPGRRSPSPVPTPAPSMTNGRYHKPRKARPPLPRPLDGEAAKVGAKQGPSESGTEGTAKEAAMKNPSGELKTVTLSKMKQSLGISISGGIESKVQPMVKIEKIFPGGAAFLSGALQAGFELVAVDGENLEQVTHQRAVDTIRRAYRNKAREPMELVVRVPGPSPRPSPSDSSALTDGGLPADHLPAHQPLDAAPVPAHWLPEPPTNPQTPPTDARLLQPTPSPAPSPALQTPDSKPAPSPRIP", "length": 1033, "header": "sp|Q9H5P4-3|PDZD7_HUMAN Isoform 3 of PDZ domain-containing protein 7 OS=Homo sapiens OX=9606 GN=PDZD7 PE=1 SV=2 CANONICAL=Q9H5P4-3" }, "locus": { "chromosome": "10", "start_pos": 101030219, "end_pos": 101008470, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000619208.6", "url": "https://www.ensembl.org/id/ENST00000619208.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000480489.1", "url": "https://www.ensembl.org/id/ENSP00000480489.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "Q9H5P4", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9H5P4" }, { "id": "37217939", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37217939" } ] } ], "phosphorylation": [], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Homozygous disruption of PDZD7 by reciprocal translocation in a consanguineous family: a new member of the Usher syndrome protein interactome causing congenital hearing impairment.", "journal": "Hum. Mol. Genet.", "date": "2009", "authors": "Schneider E, Marker T, Daser A, Frey-Mahn G, Beyer V, Farcas R, Schneider-Ratzke B, Kohlschmidt N, Grossmann B, Bauss K, Napiontek U, Keilmann A, Bartsch O, Zechner U, Wolfrum U, Haaf T", "evidence": [ { "database": "UniProtKB", "id": "Q9H5P4", "url": "https://www.uniprot.org/uniprot/Q9H5P4" }, { "database": "RefSeq", "id": "NP_001182192", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001182192" } ], "reference": [ { "type": "PubMed", "id": "19028668", "url": "https://glygen.org/publication/PubMed/19028668" } ] }, { "title": "PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome.", "journal": "J. Clin. Invest.", "date": "2010", "authors": "Ebermann I, Phillips JB, Liebau MC, Koenekoop RK, Schermer B, Lopez I, Schafer E, Roux AF, Dafinger C, Bernd A, Zrenner E, Claustres M, Blanco B, Nurnberg G, Nurnberg P, Ruland R, Westerfield M, Benzing T, Bolz HJ", "evidence": [ { "database": "UniProtKB", "id": "Q9H5P4", "url": "https://www.uniprot.org/uniprot/Q9H5P4" }, { "database": "RefSeq", "id": "NP_001182192", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001182192" } ], "reference": [ { "type": "PubMed", "id": "20440071", "url": "https://glygen.org/publication/PubMed/20440071" } ] }, { "title": "Localization of PDZD7 to the stereocilia ankle-link associates this scaffolding protein with the Usher syndrome protein network.", "journal": "The Journal of neuroscience : the official journal of the Society for Neuroscience", "date": "2012", "authors": "Grati M, Shin JB, Weston MD, Green J, Bhat MA, Gillespie PG, Kachar B", "evidence": [ { "database": "RefSeq", "id": "NP_001182192", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001182192" } ], "reference": [ { "type": "PubMed", "id": "23055499", "url": "https://glygen.org/publication/PubMed/23055499" } ] }, { "title": "PDZD7 and hearing loss: More than just a modifier.", "journal": "Am. J. Med. Genet. A", "date": "2015", "authors": "Booth KT, Azaiez H, Kahrizi K, Simpson AC, Tollefson WT, Sloan CM, Meyer NC, Babanejad M, Ardalani F, Arzhangi S, Schnieders MJ, Najmabadi H, Smith RJ", "evidence": [ { "database": "UniProtKB", "id": "Q9H5P4", "url": "https://www.uniprot.org/uniprot/Q9H5P4" } ], "reference": [ { "type": "PubMed", "id": "26416264", "url": "https://glygen.org/publication/PubMed/26416264" } ] }, { "title": "Confirmation of PDZD7 as a nonsyndromic hearing loss gene.", "journal": "Ear Hear.", "date": "2016", "authors": "Vona B, Lechno S, Hofrichter MA, Hopf S, Laig AK, Haaf T, Keilmann A, Zechner U, Bartsch O", "evidence": [ { "database": "UniProtKB", "id": "Q9H5P4", "url": "https://www.uniprot.org/uniprot/Q9H5P4" } ], "reference": [ { "type": "PubMed", "id": "26849169", "url": "https://glygen.org/publication/PubMed/26849169" } ] }, { "title": "Novel recessive PDZD7 biallelic mutations in two Chinese families with non-syndromic hearing loss.", "journal": "Am. J. Med. Genet. A", "date": "2018", "authors": "Guan J, Wang H, Lan L, Wang L, Yang J, Xie L, Yin Z, Xiong W, Zhao L, Wang D, Wang Q", "evidence": [ { "database": "UniProtKB", "id": "Q9H5P4", "url": "https://www.uniprot.org/uniprot/Q9H5P4" }, { "database": "RefSeq", "id": "NP_001182192", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001182192" } ], "reference": [ { "type": "PubMed", "id": "29048736", "url": "https://glygen.org/publication/PubMed/29048736" } ] }, { "title": "Lnc-PDZD7 contributes to stemness properties and chemosensitivity in hepatocellular carcinoma through EZH2-mediated ATOH8 transcriptional repression.", "journal": "Journal of experimental & clinical cancer research : CR", "date": "2019", "authors": "Zhang Y, Tang B, Song J, Yu S, Li Y, Su H, He S", "evidence": [ { "database": "RefSeq", "id": "NP_001182192", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001182192" } ], "reference": [ { "type": "PubMed", "id": "30786928", "url": "https://glygen.org/publication/PubMed/30786928" } ] }, { "title": "Novel recessive PDZD7 biallelic mutations associated with hereditary hearing loss in a Chinese pedigree.", "journal": "Gene", "date": "2019", "authors": "Luo H, Hassan RN, Yan J, Xie J, Du P, Hu Q, Zhu Y, Jiang W", "evidence": [ { "database": "RefSeq", "id": "NP_001182192", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001182192" } ], "reference": [ { "type": "PubMed", "id": "31129248", "url": "https://glygen.org/publication/PubMed/31129248" } ] }, { "title": "Identification of a Potential Founder Effect of a Novel PDZD7 Variant Involved in Moderate-to-Severe Sensorineural Hearing Loss in Koreans.", "journal": "International journal of molecular sciences", "date": "2019", "authors": "Lee SY, Han JH, Kim BJ, Oh SH, Lee S, Oh DY, Choi BY", "evidence": [ { "database": "RefSeq", "id": "NP_001182192", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001182192" } ], "reference": [ { "type": "PubMed", "id": "31454969", "url": "https://glygen.org/publication/PubMed/31454969" } ] }, { "title": "Novel homozygous variant in the PDZD7 gene in a family with nonsyndromic sensorineural hearing loss.", "journal": "BMC medical genomics", "date": "2022", "authors": "Du Q, Sun Q, Gu X, Wang J, Li W, Guo L, Li H", "evidence": [ { "database": "RefSeq", "id": "NP_001182192", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001182192" } ], "reference": [ { "type": "PubMed", "id": "35715776", "url": "https://glygen.org/publication/PubMed/35715776" } ] }, { "title": "Extracellular arginine availability modulates eIF2\u03b1 O-GlcNAcylation and heme oxygenase 1 translation for cellular homeostasis.", "journal": "Journal of biomedical science", "date": "2023-05-22", "authors": "Hung Yu-Wen, Ouyang Ching, Ping Xiaoli, Qi Yue, Wang Yi-Chang, Kung Hsing-Jien, Ann David K", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9H5P4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9H5P4" } ], "reference": [ { "type": "PubMed", "id": "37217939", "url": "https://glygen.org/publication/PubMed/37217939" } ] } ], "pathway": [ { "id": "hsa:79955", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:79955", "resource": "KEGG Pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "D4AAZ9-1", "protein_name": "PDZ domain containing 7", "gene_name": "Pdzd7", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MARGFTVGFDPLGLGELSSASLSSLSSRGHLGSDSASTATRYLLRKQQRLLNGPSRGIRASSPMGRVILINSPIEANSDESDIIHAVCVEKSPSGRLGFSVRGGSEHGLGIFVSKVEEGSSAERAGLCVGDKITEVNGLSLESTTMGSAVRLLTSSSRLHMMVRRMGRVPGIKFSKEKTTWVDVVNRRLVVEKCSSTPSDSSSEDGVRRIVHLYTTSDDFCLGFNIRGGKEFGLGIYVSKVDHGGLAEENGIKVGDQVLAANGVRFDDISHSQAVEVLKGQTHIMLTIKETGRYPAYKEMVSEYCWLDRLSNGVLQQLSPASESSSSVSSYASSAPCSSGSLPSDRMDVCLGPEDPTSQGPGWGRADTAMQTEPDMGGSRVETWCSVRPTVILRDTAIRSDGPSSTRHLDSALSESPKTALLLALSRPRPPITRSQSHLTLWEEKKQRKKEKSGSSGEKGALQRSKTLMNLFFKGGRQGRPAGDGHREAWTLDSRSPTKVRPRLDLEKAGSVGPVQKFVTWRLRRDRERGRALLSARSGSPSGQGPNVDEQMQAWESRRPLIQDLARRLLTDDEVLAVTRHCSRYVHEGGVEDLVRPLLAILDRPAKLLLLRDIRSVVAPTDLGRFDSMVMPVEMEAFEALKSRAVGPSALRPTRQDTPPKRHLITPVPDSRGGFYLLPVNSCSEDEDGEIRERLGGLKVSLGASAPHHKGIPPLQDVPVDAFSLRRGACAPPPQPPPVAPRPPRPNWLLTEPPSREDTQQNQNQTPGQSCSRSRSHSRSRSGSRSRSRSQGRGKSAGCRRSPSPAPITTATSANGRYHRPRKARPLLPRPLDGQVAKVGVRQEPLENGIDQTAEDEAGNATTGELRTVTLSKMKQSLGISISGGIESKVQPMVKIEKIFPGGAAFLCRALQAGFELVAVDGESLEQVTHQRAVDTIRRAYRNKAREPMELVVRVPGPGLLPLSSNLRAIKGQGLAADSSSAHGPIEDTPILTQLPPTEARQLRHALSSVQKVPQSTPKLFPIHKDPHNPS", "length": 1031 }, "evidence": [ { "id": "45230463", "url": "http://www.informatics.jax.org/homology/45230463", "database": "MGI" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "E9Q9W7-1", "protein_name": "PDZ domain-containing protein 7", "gene_name": "Pdzd7", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MARGFTVGFDPLGLGELSSGSLSSVSSRGHLGSDSGSTATRYLLRKQQRLLNGPSRGIRASSPMGRVILINSPIEANSDESDIIHAVRVEKSPSGRLGFSVRGGSEHGLGIFVSKVEEGSSAERAGLCVGDKITEVNGLSLESTTMGSAVRLLTSSSCLHMMVRRMGRVPGIKFSKEKTTWVDVVNRRLVVEKCSSTPSDRSSEDGVRRIVHLYTTSDDFCLGFNIRGGKEFGLGIYVSKVDHGGLAEENGIKVGDQVLAANGVRFDDISHSQAVEVLKGQTHIMLTIKETGRYPAYKEMVSEYCWLDRLSNGVLQQLSPASESSSSVSSYASSAPCSSGSLPSDRMDVCLGPEEPTSHGPGWGRADTAMQTEPDLDSRVETWCSVRPTVILRDTAIRSDGPSSTRHLDSALSESPKTALLLALSRPRTPITRSQSHLTLWEEKKQRKKEKSGSSGEKGALQRSKTLMNLFFKGGRQGRPAGDGHREAWTLDSRSPTKVRPRLDLEKAGSVGPVQKFVTWRLRRDRERGRALLSARSGSPSGQAPTVNEQVQAWESRRPLIQDLARRLLTDDEVLAVTRHCSRYVHEGGVEDLVRPLLAILDRPTKLLLLRDIRSVVAPTDLGRFDSMVMPVELEAFEALKSRAVGPSALRPTRQDTPPKRHLITPVPDSRGGFYLLPVNSSEDEDGEIREKLGVLKVSLGASAPHHKGIPPLQDVPVDAFSLRRGACAPPPQPPPVAPRPPRPNWLLTEPLSREDTQQNQSQTPAQSCSRSRSRSRSRSHSRGQGKSPGRRRSPSPAPIATAATANGRYHRPRKARPLLPRLLDGQVAKVGARQGPLENGRIAEEAVGNVSTGALRTITLSKMKQSLGISISGGIESKVQPMVKIEKIFPGGAAFLCGDLQAGFELVAVDGESLEQVTHQRAVDTIRRAYRNKAREPMELVVRVPGPGLLPLASDLRVVKDQSLAPDCPSALGPVDDARILTQLPPPEARQLQQSLSSALKVPQSIPKLSPILKDPHDPS", 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