ZFIN ID: ZDB-GENE-090313-191
Gene Name: PDZ domain containing 7a
Gene Symbol: pdzd7a    Nomenclature History

{{control.fieldName}} Edit

ID: {{control.nomenID}}
{{control.fieldName}}:
Reason:
Comments:

Attributions

{{pub.zdbID}}
Previous Names: pdzd7, si:dkey-158p2.1

Add new Alias

Alias
Attribution

Attributions for Alias: {{control.newAlias}}

{{pub.zdbID}}

Delete Alias:

(Including Attributions)
Gene Type: protein_coding_gene
Location: Chr: 13 Mapping Details/Browsers
Description: Involved in eye photoreceptor cell development and inner ear receptor cell development. Predicted to colocalize with photoreceptor connecting cilium and photoreceptor inner segment. Is expressed in hair cell and retina. Human ortholog(s) of this gene implicated in Usher syndrome type 2A; Usher syndrome type 2C; and autosomal recessive nonsyndromic deafness 57. Orthologous to human PDZD7 (PDZ domain containing 7).
Genome Resources: Alliance (1),  Gene:100332580 (1),  Ensembl(GRCz11):ENSDARG00000076974 (1)
MUTATIONS AND SEQUENCE TARGETING REAGENTS
Allele Type Localization Consequence Mutagen Suppliers
sa42176 Point Mutation Unknown Premature Stop ENU
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa44784 Point Mutation Unknown Unknown ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Sequence Targeting Reagents
    Targeting Reagent Created Alleles Publications
    MO1-pdzd7a N/A 1
    DISEASE ASSOCIATED WITH pdzd7a HUMAN ORTHOLOG
    Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
    autosomal recessive nonsyndromic deafness 57 Alliance Deafness, autosomal recessive 57 618003
    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
    DISEASE ASSOCIATED WITH pdzd7a VIA EXPERIMENTAL MODELS No data available
    GENE ONTOLOGY
    Ontology GO Term
    Biological Process eye photoreceptor cell development (more)
    Cellular Component COLOCALIZES_WITH   photoreceptor connecting cilium (more)
    GO Terms (all 11)
    PROTEIN FAMILIES, DOMAINS AND SITES No links to external sites available
    TRANSCRIPTS
    Type Name Length (nt) Analysis
    mRNA pdzd7a-201 (1)    Ensembl 805
    Browsers: UCSCNCBIEnsemblZFIN
    INTERACTIONS AND PATHWAYS
    ANTIBODIES
    Name Type Isotype Host Organism Assay Source Publications
    Ab1-pdzd7a polyclonal Rabbit IHC, WB 1
    PLASMIDS No data available
    CONSTRUCTS WITH SEQUENCES FROM pdzd7a No data available
    MARKER RELATIONSHIPS
    pdzd7a Contained in: [BAC] DKEY-158P2 (1) (order this), DKEY-250A11 (1) (order this)
    SEQUENCE INFORMATION
    Type Accession # Length (nt/aa) Analysis
    RNA RefSeq:NM_001190757 (1)
    Genomic GenBank:BX936291 (1) 195395 nt
    Select Tool
    Polypeptide UniProtKB:A0A0R4IEP0 (1) 955 aa
    Sequence Information (all 15)
    ORTHOLOGY for pdzd7a ( Chr: 13 )
    CITATIONS (14)