Entity Details

Primary name ESPN
Entity type gene
Source Source Link

Details

PrimaryID83715
RefseqGeneNG_015866
SymbolESPN
Nameespin
Chromosome1
Location1p36.31
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2001-05-27
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsESPN_HUMAN

GO terms

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GOName
GO:0005737 cytoplasm
GO:0005902 microvillus
GO:0005903 brush border
GO:0007605 sensory perception of sound
GO:0017124 SH3 domain binding
GO:0030034 microvillar actin bundle assembly
GO:0031941 filamentous actin
GO:0032420 stereocilium
GO:0032426 stereocilium tip
GO:0051015 actin filament binding
GO:0051017 actin filament bundle assembly

Diseases

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Disease IDSourceNameDescription
609006 OMIMDeafness, autosomal recessive, 36, with or without vestibular involvement (DFNB36)A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. DFNB36 is characterized by prelingual, profound hearing loss, and vestibular areflexia in some patients. The disease is caused by variants affecting the gene represented in this entry.
618632 OMIMUsher syndrome 1M (USH1M)A form of Usher syndrome, a genetically heterogeneous condition characterized by the association of retinitis pigmentosa with sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH1M is an autosomal recessive disease characterized by prelingual sensorineural hearing loss, vestibular dysfunction, night blindness, and progressive impairment of vision. The disease may be caused by variants affecting the gene represented in this entry.

Interactions

3 interactions

InteractorPartnerSourcesPublicationsLink
ESPNBAIAP2HPRD12598619 details
ESPNHNRNPLBioGRID28611215 details
ESPNDDX58BioGRID32513696 details