Homo sapiens Gene: ESPN
Summary
InnateDB Gene IDBG-87686.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol ESPN
Gene Name espin
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000187017
Encoded Proteins
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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]
Gene Information
Type Protein coding
Genomic Location Chromosome 1:6424788-6461370
Strand Forward strand
Band p36.31
Transcripts
ENST00000377828 ENSP00000367059
ENST00000418286 ENSP00000401793
ENST00000416731 ENSP00000399239
ENST00000434576 ENSP00000413621
ENST00000461727 ENSP00000465308
ENST00000475228
ENST00000478323 ENSP00000466437
ENST00000475479
ENST00000477679
ENST00000468561
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
Gene Ontology

Molecular Function
Accession GO Term
GO:0003779 actin binding
GO:0005515 protein binding
GO:0017124 SH3 domain binding
GO:0051015 actin filament binding
Biological Process
GO:0007605 sensory perception of sound
GO:0007626 locomotory behavior
GO:0030046 parallel actin filament bundle assembly
GO:0051017 actin filament bundle assembly
GO:0051491 positive regulation of filopodium assembly
GO:0051494 negative regulation of cytoskeleton organization
Cellular Component
GO:0005903 brush border
GO:0015629 actin cytoskeleton
GO:0031941 filamentous actin
GO:0032420 stereocilium
GO:0032421 stereocilium bundle
GO:0032426 stereocilium bundle tip
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
Non-SSD Ortholog
Possible paralog/unusual divergence/ gene prediction error
Not yet available
Non-SSD Ortholog
Possible paralog/unusual divergence/ gene prediction error
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.147953 Hs.652319 Hs.741791
RefSeq NM_031475
HUGO
OMIM
CCDS CCDS70
HPRD 06962
IMGT
EMBL
GenPept
RNA Seq Atlas