EYS

eyes shut homolog

Tier: Gold Standard Ciliary Genes

Ensembl:: ENSG00000188107
UniProt:: Q5T1H1
OMIM:: 612424
Synonyms:: BA166P24.2, BA307F22.3, BA74E24.1, C6ORF178, C6ORF179, C6ORF180, DJ1018A4.2, DJ303F19.1, EGFL10, EGFL11, RP25, SPAM

Ciliogenesis screen results (1 screens)

Failler/Valderrama et al. 2021 (siRNA) [siRNA]: Negative Regulator (Ciliogenesis Candidate) PMID:33206585

Phenotypes

Human ciliopathy phenotype:: retinitis pigmentosa; retinitis pigmentosa 25; autosomal recessive retinitis pigmentosa

Ciliopathy associations

Retinal Dystrophy/Degeneration

References: PMID:18836446, PMID:18976725, PMID:31253780, PMID:38646933, PMID:39271608, PMID:39607159

Subcellular localization

cilia, endoplasmic reticulum, transition zone

References: PMID:27737822

Functional category

Ciliary assembly/disassembly
Signaling (Hedgehog, GPCRs, ion channels)
Ciliary membrane
Transition zone

Function

EYS protein is highly concentrated near the connecting cilium/transition zone (CC/TZ) of photoreceptors and also highly concentrated in the outer segment of primate cones. Analysis of EYS-deficient zebrafish shows that EYS is required for the maintenance of the ciliary pocket and survival of cone photoreceptors as well as survival of rod photoreceptors(27737822).

Note: Additional interactive sections (perturbation matrix visualization, phylogenetic conservation strip, protein complex network, STRING interactions) require JavaScript. Browse CiliaHub for the full experience.