Espn Gene Summary [Mouse]
Predicted to enable SH3 domain binding activity and actin filament binding activity. Involved in negative regulation of cytoskeleton organization. Acts upstream of or within locomotory behavior; parallel actin filament bundle assembly; and positive regulation of filopodium assembly. Located in actin cytoskeleton; brush border; and stereocilium. Is active in stereocilium tip. Is expressed in organ of Corti; ovary; seminiferous tubule; seminiferous tubule epithelium; and testis. Human ortholog(s) of this gene implicated in autosomal recessive nonsyndromic deafness 36. Orthologous to human ESPN (espin). [provided by Alliance of Genome Resources, Jul 2025]
Details
| Type | Protein Coding |
| Official Symbol | Espn |
| Official Name | espin [Source:MGI Symbol;Acc:MGI:1861630] |
| Ensembl ID | ENSMUSG00000028943 |
| Bio databases IDs | |
| Aliases | espin |
| Synonyms | DFNB36, Espin, ESPN1, Je, LP2654, USH1M |
| Species | Mouse, Mus musculus |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in mouse Espn often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- actin filament binding
- Ankyrin repeats (many copies)
- F-actin binding domain
- Ankyrin repeats (3 copies)
- protein binding
- zDHHC ankyrin repeat binding domain
- SH3-domain binding
- WH2 motif
- Ankyrin repeat
- ankyrin repeats
- actin bundling module
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- autosomal dominant deafness without vestibular involvement
- autosomal recessive deafness type 36
- Usher syndrome type 1M
- multiple sclerosis
- familial nonsyndromic hearing impairment
- autosomal recessive deafness without vestibular involvement type 36
- hearing loss
- autosomal recessive deafness
- Usher syndrome type 1
- autosomal recessive deafness with vestibular involvement type 36
phenotypes
- absent pinna reflex
- increased bone mineral content
- increased hemoglobin content
- increased mean corpuscular hemoglobin
- lipid deposition
- abnormal cochlear ganglion morphology
- abnormal cochlear hair cell morphology
- abnormal cochlear hair cell stereociliary bundle morphology
- abnormal crista ampullaris neuroepithelium morphology
- abnormal defecation
- abnormal ear physiology
- abnormal endocochlear potential
- abnormal gait
- abnormal hearing electrophysiology
- abnormal inner ear morphology
- abnormal inner ear vestibule morphology
- abnormal inner hair cell stereociliary bundle morphology
- abnormal locomotor behavior
- abnormal nursing
- abnormal organ of Corti morphology
- abnormal otolithic membrane morphology
- abnormal reflex
- abnormal response to novelty
- abnormal stationary movement
- abnormal stria vascularis morphology
- abnormal tectorial membrane morphology
- abnormal utricular macula morphology
- abnormal vestibular system physiology
- absent cochlear microphonics
- absent cochlear nerve compound action potential
- absent linear vestibular evoked potential
- bidirectional circling
- circling
- cochlear ganglion degeneration
- cochlear hair cell degeneration
- cochlear inner hair cell degeneration
- cochlear outer hair cell degeneration
- deafness
- decreased cochlear hair cell stereocilia number
- decreased grooming behavior
- decreased vertical activity
- detached tectorial membrane
- head shaking
- impaired balance
- impaired swimming
- increased or absent threshold for auditory brainstem response
- organ of Corti degeneration
- pillar cell degeneration
- reduced linear vestibular evoked potential
- retropulsion
- short cochlear hair cell stereocilia
- thin cochlear hair cell stereocilia
- tremors
- vestibular hair cell degeneration
- vestibular saccular macula degeneration
role in cell
- length
- assembly
- formation
- elongation
- organization
- elongation in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- actin cytoskeleton
- actin filaments
- cytosol
- stereocilia
- stereocilia bundles
- actin stress fibers
- brush border
- microvilli
- filopodia
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Espn gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- sensory perception of sound
- microvillar actin bundle assembly
- actin filament bundle assembly
Cellular Component
Where in the cell the gene product is active
- brush border
- cytoplasm
- microvillus
- stereocilium
- filamentous actin
- stereocilium bundle tip
Molecular Function
What the gene product does at the molecular level
- actin filament binding
- SH3 domain binding