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
- Human ortholog(s) of this gene implicated in Usher syndrome type 2A; Usher syndrome type 2C; and autosomal recessive nonsyndromic deafness 57. Is expressed in hair cell anterior macula and retina. Orthologous to human PDZD7 (PDZ domain containing 7).
- Genome Resources
-
- Alliance (1)
- Gene:100331399 (1)
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Ebermann et al., 2010
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| 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 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | PDZD7, Harmonin N-like domain | PDZ domain | PDZ superfamily | Sensory Perception USH2 Complex Protein |
|---|---|---|---|---|---|
|
UniProtKB:A0A8M3AYZ6
|
783 |
- Genome Browsers
Interactions and Pathways
No data available
Plasmids
No data available
- Comparative Orthology
- Alliance