WHRN Gene - Whirlin
Genetic and functional insights into WHRN, a key gene for hearing and vision.
Gene Information Card
| Symbol | WHRN |
|---|---|
| Full Name | Whirlin |
| Gene Type | Protein coding |
| Chromosomal Location | 9q32 |
| NCBI Gene ID | 25861 ncbi.nlm.nih.gov/gene/25861 |
| Ensembl ID | ENSG00000107147 |
| UniProt ID | Q9P202 |
| OMIM ID | 607928 |
| HGNC ID | 16356 |
| Aliases | DFNB31, USH2D, KIAA1526, PDZD7B |
Description
The WHRN gene encodes whirlin, a scaffold protein essential for the development and maintenance of stereocilia in inner ear hair cells and photoreceptor cells in the retina. Whirlin contains multiple PDZ domains and a proline-rich region, facilitating interactions with other proteins to organize the stereocilia actin cytoskeleton. Mutations in WHRN cause autosomal recessive non-syndromic hearing loss (DFNB31) and Usher syndrome type 2D (USH2D), characterized by hearing loss and retinitis pigmentosa.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Usher syndrome type 2D | Loss of whirlin function disrupts stereocilia and photoreceptor cell integrity, leading to sensorineural hearing loss and progressive vision loss. | OMIM #611383 |
| Non-syndromic sensorineural hearing loss (DFNB31) | Biallelic mutations in WHRN impair hair cell stereocilia development, causing congenital or early-onset hearing loss without retinal involvement. | OMIM #607084 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Cochlea | High | RNA-seq data from GTEx and literature |
| Retina | High | RNA-seq data from GTEx and literature |
| Testis | Low | RNA-seq data from GTEx |
| Brain | Low | RNA-seq data from GTEx |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Hair cells (inner ear) | High | Critical for stereocilia function |
| Photoreceptor cells (retina) | High | Required for photoreceptor maintenance |
| HEK293 | Low | Heterologous expression studies |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.826C>T (p.Arg276*) | Nonsense | Rare | Loss of function; associated with USH2D |
| c.1000C>T (p.Arg334*) | Nonsense | Rare | Loss of function; associated with DFNB31 |
| c.1336C>T (p.Arg446*) | Nonsense | Rare | Loss of function; associated with USH2D |
| c.2203C>T (p.Arg735*) | Nonsense | Rare | Loss of function; associated with DFNB31 |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to premature stop codons and truncated protein, resulting in loss of whirlin function.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Usher syndrome pathway (Reactome: R-HSA-9662360)
• Stereocilium assembly and maintenance
Protein Summary
Whirlin is a 907-amino acid scaffold protein with three PDZ domains and a proline-rich region. It localizes to the tips of stereocilia in inner ear hair cells and to the connecting cilium of photoreceptors. Whirlin interacts with other Usher syndrome proteins (e.g., USH2A, VLGR1) to anchor the actin cytoskeleton and maintain cell structure. Loss of whirlin disrupts stereocilia elongation and photoreceptor survival, leading to hearing and vision loss.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| WHRN Knockout HEK293 Cell Line | EDJ-KQ8270 | Human | 25861 | Details Get a Quote |
| WHRN Knockout A-549 Cell Line | EDJ-KQ34215 | Human | 25861 | Details Get a Quote |
| WHRN Knockout HCT 116 Cell Line | EDJ-KQ34216 | Human | 25861 | Details Get a Quote |
| WHRN Knockout HeLa Cell Line | EDJ-KQ34217 | Human | 25861 | Details Get a Quote |
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