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 cilium; plasma membrane; and stereocilium tip. 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

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

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
Family	IPR051844	Sensory Perception USH2 Complex Protein
Homologous_superfamily	IPR036034	PDZ superfamily