ESPNL (Espin-Like Protein) Gene
Gene encoding an actin-binding protein involved in stereocilia formation and hearing
Gene Information Card
| Symbol | ESPNL |
|---|---|
| Full Name | espin-like protein |
| Gene Type | protein-coding |
| Chromosomal Location | 2q37.3 |
| NCBI Gene ID | 339168 ncbi.nlm.nih.gov/gene/339168 |
| Ensembl ID | ENSG00000163083 |
| UniProt ID | Q5JUP5 |
| OMIM ID | 609339 |
| HGNC ID | 24942 |
| Aliases | FLJ32786, MGC138499 |
Description
ESPNL (espin-like protein) is a protein-coding gene located on chromosome 2q37.3. It encodes an actin-binding protein that is highly expressed in the inner ear, particularly in hair cell stereocilia, and is involved in the maintenance of stereocilia structure and function. Mutations in ESPNL are associated with autosomal recessive hearing loss.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Autosomal recessive nonsyndromic hearing loss (DFNB36) | Loss of function of ESPNL disrupts actin bundling in stereocilia, leading to hair cell degeneration | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Inner ear (cochlea) | High (RNA-seq) | High |
| Brain (cerebellum) | 3.2 | Low |
| Kidney | 1.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 2.1 | Low expression |
| SH-SY5Y | 1.5 | Low expression |
| Hair cell lines (e.g., UB/OC-1) | High | Model for inner ear expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.682C>T (p.Arg228*) | Nonsense | Rare | Premature stop, loss of function |
| c.1015G>A (p.Gly339Arg) | Missense | Rare | Likely damaging to actin-binding domain |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations lead to truncated protein and loss of actin-bundling activity, causing hearing loss.
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)
| • actin binding | • actin filament bundle assembly |
| • stereocilium | • inner ear morphogenesis |
| • hearing |
Pathways
• Actin cytoskeleton regulation
• Stereocilium development
Protein Summary
The ESPNL protein is an actin-bundling protein that localizes to stereocilia of inner ear hair cells. It cross-links actin filaments to maintain the structural integrity of stereocilia, which are essential for mechanotransduction in hearing. The protein contains a WH2 domain and multiple actin-binding sites.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ESPNL Knockout HEK293 Cell Line | EDJ-KQ13328 | Human | 339768 | Details Get a Quote |
| ESPNL Knockout HeLa Cell Line | EDJ-KQ42799 | Human | 339768 | Details Get a Quote |
| ESPNL Knockout A-549 Cell Line | EDJ-KQ68120 | Human | 339768 | Details Get a Quote |
| ESPNL Knockout HCT 116 Cell Line | EDJ-KQ76496 | Human | 339768 | Details Get a Quote |
