ESPN Back

espin

External References:      Wikipedia GeneCards HUGO COSMIC Google Scholar

NCBI Description of ESPN
This gene encodes a multifunctional actin-bundling protein. It plays a major role in regulating the organization, dimensions, dynamics, and signaling capacities of the actin filament-rich, microvillus-type specializations that mediate sensory transduction in various mechanosensory and chemosensory cells. Mutations in this gene are associated with autosomal recessive neurosensory deafness, and autosomal dominant sensorineural deafness without vestibular involvement.

Community Annotation of ESPN Add / Edit ESPN: Annotations

No community annotations yet for ESPN.
Sort mutations by: Tumor type  Mutation type  Position  
Straightedge cursor Expand

Figure notes


• "Mouse over" a mutation to see details.
• Missense green saturation indicates evolutionary conservation of the mutated positions.
• Red hashes in protein strip are splice sites.
• Blue-white-red bars are log2 copy ratio distributions (–1 to +1) from Zack et al. (2013).


Legend

ESPN is highly significantly mutated in
(none)
ESPN is significantly mutated in
(none)
ESPN is near significance in
(none)

Click on a tumor type to see its full list of significant genes.

Data details


• Mutation list for ESPN