Gene

ESPN

Species
Homo sapiens
Symbol
ESPN
Name
espin
Synonyms
  • autosomal recessive deafness type 36 protein
  • deafness, autosomal recessive 36
Biotype
protein coding gene
Automated Description
Predicted to enable SH3 domain binding activity and actin filament binding activity. Involved in microvillar actin bundle assembly. Located in microvillus and stereocilium. Implicated in autosomal recessive nonsyndromic deafness 36.
RGD Description
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. [provided by RefSeq, Nov 2009]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR24153
Links to orthology data in JBrowse by filter level: Stringent,  Moderate,  No filter,  Best and Best Reverse

Paralogy

Function - GO Annotations

Pathways

No data available

Phenotypes

Primary Sources
None
Other Sources

Disease Associations

Cases where the expected disease association was NOT found
Cell color indicative of annotation volume

Transgenic Alleles

Models

Sequence Feature Viewer

Genome location
Assembly version
GRCh38
Viewer Help
6.425M6.430M6.435M6.440M6.445M6.450M6.455M6.460M

Sequence Details

Loading...

Expression

Primary Sources
None
Other Sources
Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

Molecular Interactions

Genetic Interactions