Entity Details

Primary name EYS
Entity type gene
Source Source Link

Details

PrimaryID346007
RefseqGeneNG_023443
SymbolEYS
Nameeyes shut homolog
Chromosome6
Location6q12
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2003-03-28
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsEYS_HUMAN

GO terms

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GOName
GO:0001750 photoreceptor outer segment
GO:0005509 calcium ion binding
GO:0005737 cytoplasm
GO:0005815 microtubule organizing center
GO:0033165 interphotoreceptor matrix
GO:0043403 skeletal muscle tissue regeneration
GO:0050908 detection of light stimulus involved in visual perception
GO:0070062 extracellular exosome

Diseases

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Disease IDSourceNameDescription
602772 OMIMRetinitis pigmentosa 25 (RP25)A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. The disease is caused by variants affecting the gene represented in this entry.

Interactions

1 interaction

InteractorPartnerSourcesPublicationsLink
EYSEGFRBioGRID28065597 details