EYS (eyes shut homolog)

2014-08-01 Affiliation

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

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

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

Variants:

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

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000188107	ENST00000342421	Q5T1H1
ENSG00000188107	ENST00000370621	Q5T1H1
ENSG00000188107	ENST00000393380	Q5T1H1
ENSG00000188107	ENST00000398580	H0Y3Q4
ENSG00000188107	ENST00000471279	F8WDD3
ENSG00000188107	ENST00000503581	Q5T1H1

Expression (GTEx)

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 ID	Name	Type	Evidence	Association	PD	PMIDs
PA133950441	hmg coa reductase inhibitors	Chemical	ClinicalAnnotation	associated	PD	29785580
PA164712781	HMG CoA reductase inhibitors, other combinations	Chemical	ClinicalAnnotation	associated	PD	29785580
PA443635	Cardiovascular Diseases	Disease	ClinicalAnnotation	associated	PD	29785580
PA445549	Rhabdomyolysis	Disease	ClinicalAnnotation	associated	PD	29785580

References

Pubmed ID	Year	Title	Citations
20379614	2010	Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.	62
23324950	2013	Association of rare PTP4A1-PHF3-EYS variants with alcohol dependence.	7
24961364	2014	Common PTP4A1-PHF3-EYS variants are specific for alcohol dependence.	6
18510646	2008	Large-scale molecular analysis of a 34 Mb interval on chromosome 6q: major refinement of the RP25 interval.	0
18510647	2008	Linkage validation of RP25 Using the 10K genechip array and further refinement of the locus by new linked families.	0
18836446	2008	EYS, encoding an ortholog of Drosophila spacemaker, is mutated in autosomal recessive retinitis pigmentosa.	0
18976725	2008	Identification of a 2 Mb human ortholog of Drosophila eyes shut/spacemaker that is mutated in patients with retinitis pigmentosa.	0
20237254	2010	Identification of novel mutations in the ortholog of Drosophila eyes shut gene (EYS) causing autosomal recessive retinitis pigmentosa.	0
20333770	2010	EYS is a major gene for rod-cone dystrophies in France.	0
20333770	2010	EYS is a major gene for rod-cone dystrophies in France.	0

Citation

Dessen P

EYS (eyes shut homolog)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54295/eys