Entity Details

Primary name ES8L2_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ9H6S3
EntryNameES8L2_HUMAN
FullNameEpidermal growth factor receptor kinase substrate 8-like protein 2
TaxID9606
Evidenceevidence at protein level
Length715
SequenceStatuscomplete
DateCreated2006-05-30
DateModified2021-06-02

Ontological Relatives

GenesEPS8L2

GO terms

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GOName
GO:0003779 actin binding
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0007266 Rho protein signal transduction
GO:0007605 sensory perception of sound
GO:0031982 vesicle
GO:0032421 stereocilium bundle
GO:0032426 stereocilium tip
GO:0032587 ruffle membrane
GO:0032991 protein-containing complex
GO:0035023 regulation of Rho protein signal transduction
GO:0045296 cadherin binding
GO:0050790 regulation of catalytic activity
GO:0070062 extracellular exosome
GO:1900029 positive regulation of ruffle assembly

Subcellular Location

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Subcellular Location
Cell projection
Cytoplasm

Domains

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DomainNameCategoryType
IPR001452 SH3 domainDomainDomain
IPR006020 PTB/PI domainDomainDomain
IPR011993 PH-like domain superfamilyFamilyHomologous superfamily
IPR013625 Tensin/EPS8 phosphotyrosine-binding domainDomainDomain
IPR013761 Sterile alpha motif/pointed domain superfamilyFamilyHomologous superfamily
IPR033928 Epidermal growth factor receptor kinase substrate, phosphotyrosine-binding domainDomainDomain
IPR035462 Eps8, SH3 domainDomainDomain
IPR036028 SH3-like domain superfamilyFamilyHomologous superfamily
IPR039801 Epidermal growth factor receptor kinase substrate 8-likeFamilyFamily
IPR041418 SAM domainDomainDomain

Diseases

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Disease IDSourceNameDescription
617637 OMIMDeafness, autosomal recessive, 106 (DFNB106)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. The disease is caused by variants affecting the gene represented in this entry.