AlphaFold predicted structure
ESPN · B1AK53
Mean pLDDT
67.9/ 100
Low
854 residues
Confidence breakdown
- Very high(≥ 90)38%
- Confident(70–90)14%
- Low(50–70)11%
- Very low(< 50)37%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
ESPN
Chr 1p36.31espin
- MANE:
- ENST00000645284.1
Annotations refreshed 10 hours ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Monogenic hearing loss
BOTH monoallelic and biallelic, autosomal or pseudoautosomalRetinal disorders
Disease associations (Open Targets)
hearing loss, autosomal recessive
0.70Usher syndrome type 1
0.46Usher syndrome, type 1M
0.41Usher syndrome
0.39Non-syndromic genetic deafness
0.39neurodegenerative disease
0.37nonsyndromic genetic hearing loss
0.37Rare genetic deafness
0.33Retinal dystrophy
0.32deafness
0.28
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Espin
Multifunctional actin-bundling protein. Plays a major role in regulating the organization, dimension, dynamics and signaling capacities of the actin filament-rich microvilli in the mechanosensory and chemosensory cells (PubMed:29572253). Required for the assembly and stabilization of the stereociliary parallel actin bundles. Plays a crucial role in the formation and maintenance of inner ear hair cell stereocilia (By similarity). Involved in the elongation of actin in stereocilia (PubMed:29572253). In extrastriolar hair cells, required for targeting MYO3B to stereocilia tips, and for regulation of stereocilia diameter and staircase formation
Diseases associated with ESPN
Curated MONDO disease pages that list ESPN among their top associated genes.