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Aliases for EYS Gene

Aliases for EYS Gene

  • Eyes Shut Homolog (Drosophila) 2 3 5
  • Epidermal Growth Factor-Like Protein 10 3 4
  • Epidermal Growth Factor-Like Protein 11 3 4
  • EGF-Like-Domain, Multiple 11 2 3
  • EGF-Like-Domain, Multiple 10 2 3
  • Protein Spacemaker Homolog 3 4
  • C6orf178 3 4
  • C6orf179 3 4
  • C6orf180 3 4
  • EGFL10 3 4
  • EGFL11 3 4
  • SPAM 3 4
  • Retinitis Pigmentosa 25 (Autosomal Recessive) 2
  • Chromosome 6 Open Reading Frame 180 2
  • Chromosome 6 Open Reading Frame 178 2
  • Chromosome 6 Open Reading Frame 179 2
  • EGF-Like Protein 10 4
  • EGF-Like Protein 11 4
  • BA166P24.2 3
  • BA307F22.3 3
  • DJ1018A4.2 3
  • DJ303F19.1 3
  • BA74E24.1 3
  • DJ22I17.2 3
  • RP25 3

External Ids for EYS Gene

Previous HGNC Symbols for EYS Gene

  • C6orf180
  • EGFL11
  • RP25
  • EGFL10
  • C6orf178
  • C6orf179

Previous GeneCards Identifiers for EYS Gene

  • GC06M066095
  • GC06M064430
  • GC06M061610

Summaries for EYS Gene

Entrez Gene Summary for EYS Gene

  • The product of this gene contains multiple epidermal growth factor (EGF)-like and LamG domains. The protein is expressed in the photoreceptor layer of the retina, and the gene is mutated in autosomal recessive retinitis pigmentosa. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]

GeneCards Summary for EYS Gene

EYS (Eyes Shut Homolog (Drosophila)) is a Protein Coding gene. Diseases associated with EYS include retinitis pigmentosa 25 and eys-related retinitis pigmentosa. GO annotations related to this gene include calcium ion binding. An important paralog of this gene is EGFLAM.

UniProtKB/Swiss-Prot for EYS Gene

  • Required to maintain the integrity of photoreceptor cells.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EYS Gene

Genomics for EYS Gene

Regulatory Elements for EYS Gene

Genomic Location for EYS Gene

Chromosome:
6
Start:
63,719,980 bp from pter
End:
65,707,225 bp from pter
Size:
1,987,246 bases
Orientation:
Minus strand

Genomic View for EYS Gene

Genes around EYS on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EYS Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EYS Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EYS Gene

Proteins for EYS Gene

  • Protein details for EYS Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5T1H1-EYS_HUMAN
    Recommended name:
    Protein eyes shut homolog
    Protein Accession:
    Q5T1H1
    Secondary Accessions:
    • A2RUR2
    • A8MVE7
    • B7TYK8
    • B7UUQ3
    • B7ZBE7
    • B7ZBE8
    • B7ZBR3
    • B9ZVD2
    • Q5SZM4
    • Q5T3C8
    • Q5T669
    • Q5TEL3
    • Q5TEL4
    • Q5VVG4
    • Q6UY05
    • Q9H557
    • Q9NQ15

    Protein attributes for EYS Gene

    Size:
    3165 amino acids
    Molecular mass:
    350796 Da
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • Although the protein is conserved in Drosophila, the gene encoding the orthologous protein is inactive in rodents.
    SequenceCaution:
    • Sequence=CAI13283.2; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAX13915.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAX14957.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAX15136.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAX15162.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAX15163.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAX15174.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAX15210.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAX15211.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Alternative splice isoforms for EYS Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for EYS Gene

Proteomics data for EYS Gene at MOPED

Post-translational modifications for EYS Gene

  • Glycosylation at Asn 166, Asn 269, Asn 272, Asn 311, Asn 343, Asn 506, Asn 566, and Asn 2170
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for EYS Gene

Domains & Families for EYS Gene

Suggested Antigen Peptide Sequences for EYS Gene

Graphical View of Domain Structure for InterPro Entry

Q5T1H1

UniProtKB/Swiss-Prot:

EYS_HUMAN :
  • Contains 27 EGF-like domains.
  • Belongs to the EYS family.
Domain:
  • Contains 27 EGF-like domains.
  • Contains 5 laminin G-like domains.
Family:
  • Belongs to the EYS family.
genes like me logo Genes that share domains with EYS: view

No data available for Gene Families for EYS Gene

Function for EYS Gene

Molecular function for EYS Gene

UniProtKB/Swiss-Prot Function:
Required to maintain the integrity of photoreceptor cells.

Gene Ontology (GO) - Molecular Function for EYS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0005509 calcium ion binding IEA --
genes like me logo Genes that share ontologies with EYS: view
genes like me logo Genes that share phenotypes with EYS: view

Human Phenotype Ontology for EYS Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for EYS Gene

Localization for EYS Gene

Subcellular locations from UniProtKB/Swiss-Prot for EYS Gene

Secreted. Note=Localizes in the photoreceptor cell layer.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for EYS Gene COMPARTMENTS Subcellular localization image for EYS gene
Compartment Confidence
extracellular 5
plasma membrane 3
cytosol 2
endoplasmic reticulum 2
nucleus 1

No data available for Gene Ontology (GO) - Cellular Components for EYS Gene

Pathways & Interactions for EYS Gene

SuperPathways for EYS Gene

No Data Available

Gene Ontology (GO) - Biological Process for EYS Gene

None

No data available for Pathways by source and SIGNOR curated interactions for EYS Gene

Drugs & Compounds for EYS Gene

No Compound Related Data Available

Transcripts for EYS Gene

mRNA/cDNA for EYS Gene

Unigene Clusters for EYS Gene

Eyes shut homolog (Drosophila):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for EYS Gene

No ASD Table

Relevant External Links for EYS Gene

GeneLoc Exon Structure for
EYS
ECgene alternative splicing isoforms for
EYS

Expression for EYS Gene

mRNA expression in normal human tissues for EYS Gene

Protein differential expression in normal tissues from HIPED for EYS Gene

This gene is overexpressed in Cervix (50.7) and Pancreatic juice (13.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for EYS Gene



SOURCE GeneReport for Unigene cluster for EYS Gene Hs.25067

mRNA Expression by UniProt/SwissProt for EYS Gene

Q5T1H1-EYS_HUMAN
Tissue specificity: Present in retina.
genes like me logo Genes that share expression patterns with EYS: view

Protein tissue co-expression partners for EYS Gene

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for EYS Gene

Orthologs for EYS Gene

This gene was present in the common ancestor of chordates.

Orthologs for EYS Gene

Organism Taxonomy Gene Similarity Type Details
dog
(Canis familiaris)
Mammalia EYS 35
  • 85.85 (n)
  • 76.9 (a)
EYS 36
  • 85 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 48 (a)
OneToMany
-- 36
  • 72 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia EYS 36
  • 46 (a)
OneToOne
chicken
(Gallus gallus)
Aves LOC100858320 35
  • 68.36 (n)
  • 61.27 (a)
EYS 36
  • 66 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia EYS 36
  • 66 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii LOC101886603 35
  • 57.66 (n)
  • 51.96 (a)
EYS 36
  • 53 (a)
OneToOne
Species with no ortholog for EYS:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chimpanzee (Pan troglodytes)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • cow (Bos Taurus)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • mouse (Mus musculus)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for EYS Gene

ENSEMBL:
Gene Tree for EYS (if available)
TreeFam:
Gene Tree for EYS (if available)

Paralogs for EYS Gene

Paralogs for EYS Gene

(6) SIMAP similar genes for EYS Gene using alignment to 7 proteins:

Pseudogenes.org Pseudogenes for EYS Gene

genes like me logo Genes that share paralogs with EYS: view

Variants for EYS Gene

Sequence variations from dbSNP and Humsavar for EYS Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs12193967 - 65,495,052(+) CTTCC(A/C/G)TTGTG reference, missense
rs9294631 - 64,912,570(+) CACAA(A/G)GGTTA reference, missense
rs111947397 - 65,495,130(+) GAGAT(G/T)GTTCA reference, missense
rs112609906 - 65,495,077(+) GCCAA(C/G/T)GAAAG reference, missense
VAR_063439 -

Structural Variations from Database of Genomic Variants (DGV) for EYS Gene

Variant ID Type Subtype PubMed ID
nsv830674 CNV Gain+Loss 17160897
esv2673919 CNV Deletion 23128226
esv2673667 CNV Deletion 23128226
esv2732203 CNV Deletion 23290073
esv26838 CNV Loss 19812545
nsv820168 CNV Loss 19587683
nsv823707 CNV Loss 20364138
dgv6870n71 CNV Loss 21882294
esv2673394 CNV Deletion 23128226
nsv885994 CNV Loss 21882294
nsv885997 CNV Loss 21882294
nsv885998 CNV Gain 21882294
nsv885999 CNV Loss 21882294
nsv886000 CNV Loss 21882294
nsv483135 CNV Loss 15286789
nsv462968 CNV Loss 19166990
nsv5327 CNV Insertion 18451855
nsv510901 CNV Complex 20534489
nsv507334 CNV Insertion 20534489
nsv512882 CNV Insertion 21212237
esv991948 CNV Insertion 20482838
nsv499459 CNV Gain 21111241
esv1031312 CNV Deletion 17803354
esv2732204 CNV Deletion 23290073
nsv524118 CNV Loss 19592680
nsv886001 CNV Loss 21882294
esv2732205 CNV Deletion 23290073
esv2190774 CNV Deletion 18987734
esv2732207 CNV Deletion 23290073
esv3970 CNV Deletion 18987735
esv2732208 CNV Deletion 23290073
nsv830675 CNV Gain 17160897
nsv512883 CNV Insertion 21212237
esv1722623 CNV Insertion 17803354
esv271509 CNV Insertion 20981092
esv2732209 CNV Deletion 23290073
esv990348 CNV Deletion 20482838
esv1465574 CNV Deletion 17803354
nsv886002 CNV Gain 21882294
nsv462971 CNV Gain 19166990
nsv462972 CNV Loss 19166990
nsv886003 CNV Loss 21882294
dgv6871n71 CNV Loss 21882294
nsv508410 CNV Loss 20534489
esv28555 CNV Loss 19812545
esv1011340 CNV Deletion 20482838
nsv436501 CNV Deletion 17901297
nsv511891 CNV Loss 21212237
nsv819675 CNV Loss 19587683
nsv823708 CNV Loss 20364138
esv2422086 CNV Deletion 20811451
esv2466331 CNV Loss 19546169
esv272011 CNV Insertion 20981092
esv1591369 CNV Insertion 17803354
nsv5328 CNV Loss 18451855
esv33692 CNV Loss 17666407
nsv886006 CNV Loss 21882294
nsv470822 CNV Loss 18288195
nsv462976 CNV Loss 19166990
nsv462977 CNV Gain 19166990
nsv886007 CNV Loss 21882294
nsv886008 CNV Loss 21882294
esv268769 CNV Insertion 20981092
nsv886009 CNV Loss 21882294
dgv1124e199 CNV Deletion 23128226
esv2662925 CNV Deletion 23128226
esv2732210 CNV Deletion 23290073
esv5426 CNV Deletion 18987735
nsv499480 CNV Loss 21111241
esv23142 CNV Loss 19812545
nsv442983 CNV CNV 18776908
dgv1048n67 CNV Loss 20364138
nsv514364 CNV Loss 21397061
nsv819529 CNV Loss 19587683
nsv820016 CNV Loss 19587683
nsv823712 CNV Loss 20364138
esv2732211 CNV Deletion 23290073
esv2674614 CNV Deletion 23128226
esv2667038 CNV Deletion 23128226
esv24902 CNV Loss 19812545
nsv515733 CNV Loss 19592680
nsv823713 CNV Gain 20364138
esv2663731 CNV Deletion 23128226
esv22660 CNV Loss 19812545
nsv886010 CNV Loss 21882294
dgv6872n71 CNV Loss 21882294
nsv348880 CNV Loss 16902084
esv25071 CNV Loss 19812545
esv2674250 CNV Deletion 23128226
esv2732212 CNV Deletion 23290073
nsv886013 CNV Loss 21882294
nsv521670 CNV Loss 19592680
nsv516417 CNV Loss 19592680
nsv470823 CNV Loss 18288195
dgv6873n71 CNV Loss 21882294
dgv6874n71 CNV Loss 21882294
esv2671661 CNV Deletion 23128226
esv1215147 CNV Deletion 17803354
dgv6875n71 CNV Loss 21882294
dgv6876n71 CNV Loss 21882294
nsv462980 CNV Loss 19166990
nsv818421 CNV Gain 17921354
nsv520449 CNV Loss 19592680
esv2678892 CNV Deletion 23128226
esv24529 CNV Loss 19812545
nsv462983 CNV Loss 19166990
nsv886026 CNV Gain 21882294
dgv6877n71 CNV Gain 21882294
nsv483153 CNV Loss 15286789
dgv756n27 CNV Loss 19166990
esv2732213 CNV Deletion 23290073
nsv886029 CNV Loss 21882294
nsv886030 CNV Loss 21882294
nsv528039 CNV Gain 19592680
nsv818423 CNV Gain 17921354
esv267938 CNV Insertion 20981092
esv273606 CNV Insertion 20981092
nsv886031 CNV Gain 21882294
esv2732214 CNV Deletion 23290073
esv2732215 CNV Deletion 23290073
esv2732216 CNV Deletion 23290073
esv2667605 CNV Deletion 23128226
esv2732218 CNV Deletion 23290073
nsv470824 CNV Loss 18288195
nsv524573 CNV Loss 19592680
esv1002545 CNV Deletion 20482838
esv2576083 CNV Deletion 19546169
esv2214118 CNV Deletion 18987734
nsv511892 CNV Loss 21212237
esv3510 CNV Deletion 18987735
dgv223n6 CNV Loss 16902084
esv2732219 CNV Deletion 23290073
esv1005863 CNV Deletion 20482838
esv1748560 CNV Deletion 17803354
esv6318 CNV Loss 19470904
nsv470825 CNV Gain 18288195
nsv511893 CNV Loss 21212237
esv1637717 CNV Deletion 17803354
nsv886032 CNV Loss 21882294
nsv516274 CNV Loss 19592680
dgv757n27 CNV Loss 19166990
nsv462989 CNV Loss 19166990
dgv1959e1 CNV Complex 17122850
nsv5329 CNV Loss 18451855
nsv436998 CNV Loss 16327808
nsv508411 CNV Loss 20534489
nsv7910 CNV Loss 18304495
dgv1125e199 CNV Deletion 23128226
esv1003481 CNV Gain 20482838
dgv1049n67 CNV Loss 20364138
esv2421564 CNV Deletion 20811451
nsv514365 CNV Loss 21397061
nsv442984 CNV CNV 18776908
dgv1126e199 CNV Deletion 23128226
esv23889 CNV Loss 19812545
dgv1960e1 CNV Complex 17122850

Variation tolerance for EYS Gene

Gene Damage Index Score: 20.95; 99.20% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for EYS Gene

HapMap Linkage Disequilibrium report
EYS
Human Gene Mutation Database (HGMD)
EYS

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EYS Gene

Disorders for EYS Gene

MalaCards: The human disease database

(6) MalaCards diseases for EYS Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
retinitis pigmentosa 25
  • rp 25
eys-related retinitis pigmentosa
  • retinitis pigmentosa 25
fundus dystrophy
  • retinal dystrophy
retinitis pigmentosa
  • retinitis pigmentosa 1
retinitis
- elite association - COSMIC cancer census association via MalaCards
Search EYS in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

EYS_HUMAN
  • Retinitis pigmentosa 25 (RP25) [MIM:602772]: 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. {ECO:0000269 PubMed:18836446, ECO:0000269 PubMed:18976725, ECO:0000269 PubMed:20333770, ECO:0000269 PubMed:20696082, ECO:0000269 PubMed:21069908}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for EYS

Genetic Association Database (GAD)
EYS
Human Genome Epidemiology (HuGE) Navigator
EYS
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
EYS
genes like me logo Genes that share disorders with EYS: view

No data available for Genatlas for EYS Gene

Publications for EYS Gene

  1. EYS is a major gene for rod-cone dystrophies in France. (PMID: 20333770) Audo I. … Zeitz C. (Hum. Mutat. 2010) 3 4 48 67
  2. EYS, encoding an ortholog of Drosophila spacemaker, is mutated in autosomal recessive retinitis pigmentosa. (PMID: 18836446) Abd El-Aziz M.M. … Antinolo G. (Nat. Genet. 2008) 2 3
  3. Identification of a 2 Mb human ortholog of Drosophila eyes shut/spacemaker that is mutated in patients with retinitis pigmentosa. (PMID: 18976725) Collin R.W.J. … Cremers F.P.M. (Am. J. Hum. Genet. 2008) 2 3
  4. Histopathological comparison of eyes from patients with autosomal recessive retinitis pigmentosa caused by novel EYS mutations. (PMID: 25491159) Bonilha V.L. … Hagstrom S.A. (Graefes Arch. Clin. Exp. Ophthalmol. 2015) 3
  5. Targeted next-generation sequencing reveals novel EYS mutations in Chinese families with autosomal recessive retinitis pigmentosa. (PMID: 25753737) Chen X. … Zhao C. (Sci Rep 2015) 3

Products for EYS Gene

Sources for EYS Gene

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