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ZIRC
ZFIN ID: ZDB-GENE-100624-3
Gene Name: PDZ domain containing 7b
Gene Symbol: pdzd7b    Nomenclature History

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(Including Attributions)
Gene Type: protein_coding_gene
Location: Chr: 12 Mapping Details/Browsers
Description: Human ortholog(s) of this gene implicated in Usher syndrome type 2A; Usher syndrome type 2C; and autosomal recessive nonsyndromic deafness. Is expressed in hair cell anterior macula and retina. Orthologous to human PDZD7 (PDZ domain containing 7).
Genome Resources: Alliance (1),  Gene:100331399 (1)
MUTATIONS AND SEQUENCE TARGETING REAGENTS
Allele Type Localization Consequence Mutagen Suppliers
sa24924 Point Mutation Unknown Premature Stop ENU
sa42097 Point Mutation Unknown Premature Stop ENU
  • Zebrafish International Resource Center (ZIRC) (order this)
  • PHENOTYPE No data available
    DISEASE ASSOCIATED WITH pdzd7b HUMAN ORTHOLOG
    Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
    Usher syndrome type 2A Alliance {Retinal disease in Usher syndrome type IIA, modifier of} 276901
    Usher syndrome type 2C Alliance Usher syndrome, type IIC, GPR98/PDZD7 digenic 605472
    Deafness, autosomal recessive 57 618003
    DISEASE ASSOCIATED WITH pdzd7b VIA EXPERIMENTAL MODELS No data available
    GENE ONTOLOGY No data available
    PROTEIN FAMILIES, DOMAINS AND SITES
  • InterPro:IPR001478 (1)
  • InterPro:IPR036034 (1)
  • PROSITE:PS50106 (1)
  • Pfam:PF00595 (1)
  • TRANSCRIPTS No data available
    INTERACTIONS AND PATHWAYS
    ANTIBODIES No data available
    PLASMIDS No data available
    CONSTRUCTS WITH SEQUENCES FROM pdzd7b No data available
    MARKER RELATIONSHIPS No data available
    SEQUENCE INFORMATION
    Type Accession # Length (bp/aa) Analysis
    RNA RefSeq:XM_009300706 (1)
    Polypeptide UniProtKB:D6BNB0 (1) 777 aa
    Sequence Clusters UniGene:121518 (1)
    Sequence Information (all 7)
    ORTHOLOGY for pdzd7b ( Chr: 12 )
    CITATIONS (6)