Gene

pdzd7b

ID
ZDB-GENE-100624-3
Name
PDZ domain containing 7b
Symbol
pdzd7b Nomenclature History
Previous Names
None
Type
protein_coding_gene
Location
Chr: 12 Mapping Details/Browsers
Description
Is expressed in hair cell anterior macula 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
Expression
All Expression Data
from Ebermann et al., 2010
Cross-Species Comparison
High Throughput Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
No data available
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With pdzd7b 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 pdzd7b 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:D6BNB0 777
Transcripts
Genome Browsers
No data available
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Citations