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
- Predicted to be involved in auditory receptor cell stereocilium organization and sensory perception of sound. Predicted to be located in cell projection. 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 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
- 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