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Gene

pdzd7a

ID
ZDB-GENE-090313-191
Name
PDZ domain containing 7a
Symbol
pdzd7a Nomenclature History
Previous Names
  • pdzd7
  • si:dkey-158p2.1
Type
protein_coding_gene
Location
Chr: 13 Mapping Details/Browsers
Description
Acts upstream of or within eye photoreceptor cell development and inner ear receptor cell development. Predicted to be part of stereocilia ankle link complex. Predicted to be active in plasma membrane and stereocilium tip. 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
Note
None
Comparative Information
Expression
All Expression Data
2 figures from Ebermann et al., 2010
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
1 Figure from Ebermann et al., 2010
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human 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
Associated With pdzd7a Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Domain IPR001478 PDZ domain
Domain IPR042786 PDZD7, Harmonin N-like domain
Homologous_superfamily IPR036034 PDZ superfamily
Domain Details Per Protein
Protein Length PDZD7, Harmonin N-like domain PDZ domain PDZ superfamily
UniProtKB:A0A0R4IEP0 955
UniProtKB:A0A0R4IUM9 954
UniProtKB:F1QLV2 268
UniProtKB:D6BNA9 954
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
Name Type Antigen Genes Isotype Host Organism Assay Source Citations
Ab1-pdzd7a polyclonal Rabbit
  • IHC
  • WB
1
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations