EYS (Eyes Shut Homolog)
Key gene associated with autosomal recessive retinitis pigmentosa and retinal degeneration
Gene Information Card
| Symbol | EYS |
|---|---|
| Full Name | Eyes Shut Homolog (Drosophila) |
| Gene Type | Protein coding |
| Chromosomal Location | 6q12.1 |
| NCBI Gene ID | 346007 ncbi.nlm.nih.gov/gene/346007 |
| Ensembl ID | ENSG00000188107 |
| UniProt ID | Q9H6Y5 |
| OMIM ID | 612424 |
| HGNC ID | 26555 |
| Aliases | C6orf16, dJ1013A10.3, RP25 |
Description
EYS encodes a protein homologous to the Drosophila eyes shut protein, which is essential for photoreceptor cell survival and retinal structure. The protein localizes to the connecting cilium of photoreceptors and is involved in ciliary transport and maintenance. Mutations in EYS are a common cause of autosomal recessive retinitis pigmentosa (arRP), particularly in Asian and European populations.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Retinitis pigmentosa (autosomal recessive) | Loss-of-function mutations disrupt photoreceptor ciliary function, leading to progressive rod and cone degeneration | ClinVar, OMIM |
| Retinitis pigmentosa 25 (RP25) | Specific EYS mutations cause RP25, a subtype of arRP | OMIM #612424 |
| Cone-rod dystrophy | Rare EYS variants may contribute to cone-rod dystrophy phenotypes | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Retina | 12.5 | High |
| Testis | 4.2 | Medium |
| Brain (cerebellum) | 1.8 | Low |
| Lung | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| ARPE-19 (retinal pigment epithelium) | 3.1 | Moderate expression |
| HEK293 (embryonic kidney) | 0.2 | Very low |
| SH-SY5Y (neuroblastoma) | 0.8 | Low |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.4957dupA (p.Thr1653Asnfs*2) | Frameshift | Common in Japanese arRP | Loss of function |
| c.2135G>A (p.Trp712*) | Nonsense | Frequent in European arRP | Loss of function |
| c.5928-2A>G | Splice site | Reported in multiple ethnicities | Loss of function |
| c.6557G>A (p.Arg2186His) | Missense | Rare | Likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Majority of EYS mutations are loss-of-function (nonsense, frameshift, splice site), leading to truncated or absent protein and impaired photoreceptor ciliary function.
Gain of Function (GOF)
No evidence of gain-of-function mutations in EYS.
Dominant Negative (DN)
No evidence of dominant-negative effects; EYS-associated disease is strictly autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Photoreceptor cell maintenance and ciliary transport
• Retinitis pigmentosa (KEGG: hsa04740)
Protein Summary
The EYS protein is a large, extracellular matrix-like protein containing multiple laminin G and EGF-like domains. It is predominantly expressed in the retina, where it localizes to the connecting cilium of photoreceptors. EYS is essential for the structural integrity and function of photoreceptor cilia, and its loss leads to progressive retinal degeneration.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| EYS Knockout HEK293 Cell Line | EDJ-KQ13346 | Human | 346007 | Details Get a Quote |
| EYS Knockout HeLa Cell Line | EDJ-KQ59794 | Human | 346007 | Details Get a Quote |
| EYS Knockout A-549 Cell Line | EDJ-KQ68262 | Human | 346007 | Details Get a Quote |
| EYS Knockout HCT 116 Cell Line | EDJ-KQ76639 | Human | 346007 | Details Get a Quote |
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