EYS

Chr 6q12

EGF-like photoreceptor maintenance factor

Aliases:: dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1
MANE:: ENST00000503581.6

OMIM: 612424 ↗NCBI: 346007 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

EYS · Q5T1H1-4isoform

No predicted structure exists for the canonical Q5T1H1 sequence; metrics below describe this isoform.

v62025-08-01

Predicted Aligned Error matrix for EYS — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

56.5/ 100

Low

619 residues

Confidence breakdown

Very high(≥ 90)19%
Confident(70–90)19%
Low(50–70)12%
Very low(< 50)50%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Retinal disorders
BIALLELIC, autosomal or pseudoautosomal
Glaucoma (developmental)
Structural eye disease
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

retinitis pigmentosa
0.82
Retinal dystrophy
0.70
retinitis pigmentosa 25
0.67
autosomal recessive retinitis pigmentosa
0.52
EYS-related retinopathy
0.46
alcohol drinking
0.46
Macular dystrophy
0.43
mathematical ability
0.40
cone-rod dystrophy
0.39
Cone rod dystrophy
0.39

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Protein eyes shut homolog

Required to maintain the integrity of photoreceptor cells (PubMed:18836446). Specifically required for normal morphology of the photoreceptor ciliary pocket, and might thus facilitate protein trafficking between the photoreceptor inner and outer segments via the transition zone (By similarity)

Curated MONDO disease pages that list EYS among their top associated genes.

retinitis pigmentosaRare

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Disease associations (Open Targets)

Protein function (UniProt)

Diseases associated with EYS