Gene
whrna
- ID
- ZDB-GENE-091118-27
- Name
- whirlin a
- Symbol
- whrna Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 21 Mapping Details/Browsers
- Description
- Predicted to be involved in auditory receptor cell stereocilium organization and sensory perception of sound. Predicted to be located in several cellular components, including growth cone; stereocilium; and synapse. Predicted to be part of stereocilia ankle link complex. Predicted to be active in cilium; plasma membrane; and stereocilium tip. Human ortholog(s) of this gene implicated in Usher syndrome type 2D; autosomal recessive nonsyndromic deafness 31; and sensorineural hearing loss. Orthologous to human WHRN (whirlin).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- No data available
- 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 31 | Alliance | Deafness, autosomal recessive 31 | 607084 |
| Usher syndrome type 2D | Alliance | Usher syndrome, type 2D | 611383 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | PDZ domain | PDZ superfamily | Sensory Perception USH2 Complex Protein | Whirlin, harmonin_N-like domain 1 | Whirlin, harmonin_N-like domain 2 |
|---|---|---|---|---|---|---|---|
| UniProtKB:A0A8M9Q316 | InterPro | 326 | |||||
| UniProtKB:A0A8M9PD54 | InterPro | 708 | |||||
| UniProtKB:E7F2D8 | InterPro | 939 |
Interactions and Pathways
No data available
Plasmids
No data available