Gene
whrnb
- ID
- ZDB-GENE-060526-377
- Name
- whirlin b
- Symbol
- whrnb Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 5 Mapping Details/Browsers
- Description
- Predicted to be involved in sensory perception of sound. Predicted to colocalize with photoreceptor connecting cilium and photoreceptor inner segment. Human ortholog(s) of this gene implicated in Usher syndrome type 2D; autosomal recessive nonsyndromic deafness 31; and sensorineural hearing loss. Is expressed in hair cell. Orthologous to human WHRN (whirlin).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Blanco-Sánchez et al., 2014
- 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 | Length | PDZ domain | PDZ superfamily | Sensory Perception USH2 Complex Protein | Whirlin, harmonin_N-like domain 1 | Whirlin, harmonin_N-like domain 2 |
|---|---|---|---|---|---|---|
|
UniProtKB:A0A8M9Q8S8
|
432 | |||||
|
UniProtKB:A0A8M9P8V0
|
946 | |||||
|
UniProtKB:F1R807
|
946 |
Interactions and Pathways
No data available
Plasmids
No data available