Entity Details

Primary name EPS8L2
Entity type gene
Source Source Link

Details

PrimaryID64787
RefseqGeneNG_051601
SymbolEPS8L2
NameEPS8 like 2
Chromosome11
Location11p15.5
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2001-02-13
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsES8L2_HUMAN

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

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.