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Gene

EYS

EGF-like photoreceptor maintenance factor

Summary

Cytogenetic location
6q12
Coordinates
Chromosome 6: 63,719,980–65,707,226 (GRCh38)
Exons
43 exons across 1,987.2 kb
Protein
3,144 amino acids
Inheritance
Autosomal recessive
Also known as
dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1
Previous symbols
C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179
MANE Select transcript
ENST00000503581.6NM_001142800.2
Locus type
gene with protein product

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated report relevant to this gene

  • Retinitis Pigmentosa

    • EYS-Related RetinopathyAutosomal recessive

      A retinal dystrophy caused by changes in the EYS gene.

      • ClinGen rates the link definitive
      • 6 GenCC submitters rate it definitive or strong

    • One of 77 genes linked to it

      A group of inherited retinal dystrophies with progressive loss of rod and then cone photoreceptors, causing night blindness and gradual loss of peripheral vision.

      • 5 GenCC submitters rate it definitive or strong

Inheritance

Autosomal recessive
It takes a changed copy from each parent. With one, you are a carrier and usually unaffected; when both parents are carriers, each child has a one-in-four chance of inheriting two.

How EYS is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 6, with a bracket where EYS sits. EYS and 7 genes near it on chromosome 6, from 61,732,733 to 67,694,473.Chromosome 66q12p25.3p25.2p25.1p24.3p24.2p24.1p23p22.3p22.2p22.1p21.33p21.32p21.31p21.2p21.1p12.3p12.2p12.1p11.2p11.1q11.1q11.2q12q13q14.1q14.2q14.3q15q16.1q16.2q16.3q21q22.1q22.2q22.31q22.32q22.33q23.1q23.2q23.3q24.1q24.2q24.3q25.1q25.2q25.3q26q2762 Mb63 Mb64 Mb65 Mb66 Mb67 MbKHDRBS2: 61,630,232–62,286,688, reverse strandKHDRBS2FKBP1C: 63,211,469–63,213,027, forward strandFKBP1CLGSN: 63,275,951–63,321,823, reverse strandLGSNPTP4A1: 63,521,696–63,583,588, forward strandPTP4A1: 63,572,002–63,583,588, forward strandPHF3: 63,635,771–63,779,336, forward strandPHF3EYS: 63,719,980–65,707,226, reverse strandEYSZC3H11C: 65,301,476–65,306,574, forward strandZC3H11CDiagram of EYS: 43 exons on the reverse strand of chromosome 6Exon 43: 115 known disease-causing sitesExon 42: 13 known disease-causing sitesExon 41: 20 known disease-causing sitesExon 40: 8 known disease-causing sitesExon 39: 5 known disease-causing sitesExon 38: 9 known disease-causing sitesExon 37: 14 known disease-causing sitesExon 36: 12 known disease-causing sitesExon 35: 9 known disease-causing sitesExon 34: 7 known disease-causing sitesExon 33: 5 known disease-causing sitesExon 32: 10 known disease-causing sitesExon 31: 13 known disease-causing sitesExon 30: 11 known disease-causing sitesExon 29: 10 known disease-causing sitesExon 28: 7 known disease-causing sitesExon 27: 10 known disease-causing sitesExon 26: 107 known disease-causing sitesExon 25: 12 known disease-causing sitesExon 24: 8 known disease-causing sitesExon 23: 6 known disease-causing sitesExon 22: 8 known disease-causing sitesExon 21: 5 known disease-causing sitesExon 20: 8 known disease-causing sitesExon 19: 11 known disease-causing sitesExon 18: 11 known disease-causing sitesExon 17: 5 known disease-causing sitesExon 16: 25 known disease-causing sitesExon 15: 12 known disease-causing sitesExon 14: 3 known disease-causing sitesExon 13: 8 known disease-causing sitesExon 12: 12 known disease-causing sitesExon 11: 10 known disease-causing sitesExon 10: 11 known disease-causing sitesExon 9: 14 known disease-causing sitesExon 8: 7 known disease-causing sitesExon 7: 9 known disease-causing sitesExon 6: 16 known disease-causing sitesExon 5: 8 known disease-causing sitesExon 4: 45 known disease-causing sitesExon 1: 1 known disease-causing siteExon 43: 63,719,980–63,721,797, 1,818 basesExon 42: 63,726,519–63,726,680, 162 basesExon 41: 63,762,461–63,762,633, 173 basesExon 40: 63,778,006–63,778,180, 175 basesExon 39: 63,788,105–63,788,249, 145 basesExon 38: 63,789,058–63,789,224, 167 basesExon 37: 63,806,190–63,806,372, 183 basesExon 36: 63,864,186–63,864,358, 173 basesExon 35: 63,984,383–63,984,603, 221 basesExon 34: 63,999,075–63,999,183, 109 basesExon 33: 64,066,338–64,066,491, 154 basesExon 32: 64,081,856–64,082,002, 147 basesExon 31: 64,230,592–64,230,824, 233 basesExon 30: 64,306,970–64,307,082, 113 basesExon 29: 64,388,690–64,388,840, 151 basesExon 28: 64,436,174–64,436,265, 92 basesExon 27: 64,439,162–64,439,352, 191 basesExon 26: 64,590,223–64,591,989, 1,767 basesExon 25: 64,593,117–64,593,309, 193 basesExon 24: 64,617,418–64,617,533, 116 basesExon 23: 64,626,121–64,626,245, 125 basesExon 22: 64,813,378–64,813,577, 200 basesExon 21: 64,821,645–64,821,723, 79 basesExon 20: 64,822,651–64,822,822, 172 basesExon 19: 64,886,697–64,886,842, 146 basesExon 18: 64,902,113–64,902,220, 108 basesExon 17: 64,902,404–64,902,500, 97 basesExon 16: 64,912,484–64,912,743, 260 basesExon 15: 64,945,793–64,945,914, 122 basesExon 14: 64,997,582–64,997,703, 122 basesExon 13: 65,057,614–65,057,727, 114 basesExon 12: 65,295,863–65,296,119, 257 basesExon 11: 65,334,980–65,335,146, 167 basesExon 10: 65,344,038–65,344,177, 140 basesExon 9: 65,353,458–65,353,617, 160 basesExon 8: 65,384,386–65,384,500, 115 basesExon 7: 65,402,478–65,402,605, 128 basesExon 6: 65,405,174–65,405,367, 194 basesExon 5: 65,490,594–65,490,707, 114 basesExon 4: 65,494,663–65,495,607, 945 basesExon 3: 65,495,859–65,495,993, 135 basesExon 2: 65,639,778–65,639,892, 115 basesExon 1: 65,707,135–65,707,226, 92 bases4340353025201510515′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 10.6 kb of the gene's 1,987.2 kb; 9,435 of those bases code for the protein.

How a genome test reads EYS

725

positions in EYS where ClinVar classes a change as pathogenic or likely pathogenic

14 of them (1.9%) fall in regions short reads find hard.

  • Segmental duplications (14 sites)Copies of at least 1 kb sharing at least 90% identity with another part of the genome (paralogues, pseudogenes); reads may align to the wrong copy.

A whole genome covers all 1,987.2 kb of EYS, introns included, not only the 10.6 kb of exons.

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). EYS gene: EGF-like photoreceptor maintenance factor. Retrieved 16 October 2026, from https://dantelabs.com/genes/eys

Vancouver

Dante Labs. EYS gene: EGF-like photoreceptor maintenance factor [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/eys

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