EYS (eyes shut homolog)

2014-08-01  

Identity

HGNC
EYS
LOCATION
6q12
LOCUSID
346007
ALIAS
C6orf178,C6orf179,C6orf180,EGFL10,EGFL11,RP25,SPAM,bA166P24.2,bA307F22.3,bA74E24.1,dJ1018A4.2,dJ22I17.2,dJ303F19.1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 346007
MIM: 612424
HGNC: 21555
Ensembl: ENSG00000188107

Variants:

dbSNP: 346007
ClinVar: 346007
TCGA: ENSG00000188107
COSMIC: EYS

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000188107ENST00000342421Q5T1H1
ENSG00000188107ENST00000370621Q5T1H1
ENSG00000188107ENST00000393380Q5T1H1
ENSG00000188107ENST00000398580H0Y3Q4
ENSG00000188107ENST00000471279F8WDD3
ENSG00000188107ENST00000503581Q5T1H1

Expression (GTEx)

0
1
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA133950441hmg coa reductase inhibitorsChemicalClinicalAnnotationassociatedPD29785580
PA164712781HMG CoA reductase inhibitors, other combinationsChemicalClinicalAnnotationassociatedPD29785580
PA443635Cardiovascular DiseasesDiseaseClinicalAnnotationassociatedPD29785580
PA445549RhabdomyolysisDiseaseClinicalAnnotationassociatedPD29785580

References

Pubmed IDYearTitleCitations
386469332024Phototoxicity avoidance is a potential therapeutic approach for retinal dystrophy caused by EYS dysfunction.0
386469332024Phototoxicity avoidance is a potential therapeutic approach for retinal dystrophy caused by EYS dysfunction.0
374186432023RETINITIS PIGMENTOSA ASSOCIATED WITH THE EYS C2139Y VARIANT : An Important Cause of Blindness in East Asian Populations.0
374186432023RETINITIS PIGMENTOSA ASSOCIATED WITH THE EYS C2139Y VARIANT : An Important Cause of Blindness in East Asian Populations.0
346891812022Genotypic spectrum and phenotype correlations of EYS-associated disease in a Chinese cohort.0
357101072022Likely pathogenic structural variants in genetically unsolved patients with retinitis pigmentosa revealed by long-read sequencing.5
365137022022Genotypic and phenotypic profiles of EYS gene-related retinitis pigmentosa: a retrospective study.2
346891812022Genotypic spectrum and phenotype correlations of EYS-associated disease in a Chinese cohort.0
357101072022Likely pathogenic structural variants in genetically unsolved patients with retinitis pigmentosa revealed by long-read sequencing.5
365137022022Genotypic and phenotypic profiles of EYS gene-related retinitis pigmentosa: a retrospective study.2
327282282021"Genetic and clinical findings in an ethnically diverse retinitis pigmentosa cohort associated with pathogenic variants in EYS".3
335148632021A hypomorphic variant in EYS detected by genome-wide association study contributes toward retinitis pigmentosa.2
338333162021EYS mutations and implementation of minigene assay for variant classification in EYS-associated retinitis pigmentosa in northern Sweden.3
343153372021Investigation of genotype-phenotype relationship in Turkish patients with inherited retinal disease by next generation sequencing.2
327282282021"Genetic and clinical findings in an ethnically diverse retinitis pigmentosa cohort associated with pathogenic variants in EYS".3

Citation

Dessen P

EYS (eyes shut homolog)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54295/eys-(eyes-shut-homolog)