Gene: EYS

Alternate names for this Gene: C6orf178|C6orf179|C6orf180|EGFL10|EGFL11|RP25|SPAM|bA166P24.2|bA307F22.3|bA74E24.1|dJ1018A4.2|dJ22I17.2|dJ303F19.1

Gene Summary: 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.

Gene is located in Chromosome: 6

Location in Chromosome : 6q12

Description of this Gene: eyes shut homolog

Type of Gene: protein-coding

Gene: PHF3

Alternate names for this Gene: -

Gene Summary: This gene encodes a member of a PHD finger-containing gene family. This gene may function as a transcription factor and may be involved in glioblastomas development. Alternative splicing results in multiple transcript variants.

Gene is located in Chromosome: 6

Location in Chromosome : 6q12

Description of this Gene: PHD finger protein 3

Type of Gene: protein-coding

rs319924 in EYS;PHF3 gene and Major Depressive Disorder PMID 30571770 2018 Genome-wide interaction study of a proxy for stress-sensitivity and its prediction of major depressive disorder.

rs373203896 in EYS;PHF3 gene and Retinitis Pigmentosa PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

PMID 29550188 2018 A Distinct Phenotype of Eyes Shut Homolog (EYS)-Retinitis Pigmentosa Is Associated With Variants Near the C-Terminus.

rs137853190 in EYS;PHF3 gene and Retinitis Pigmentosa 25 PMID 18976725 2008 Identification of a 2 Mb human ortholog of Drosophila eyes shut/spacemaker that is mutated in patients with retinitis pigmentosa.

PMID 21069908 2010 Mutation spectrum of EYS in Spanish patients with autosomal recessive retinitis pigmentosa.

PMID 26161267 2015 Retinitis Pigmentosa with EYS Mutations Is the Most Prevalent Inherited Retinal Dystrophy in Japanese Populations.

PMID 20375346 2010 Novel null mutations in the EYS gene are a frequent cause of autosomal recessive retinitis pigmentosa in the Israeli population.

PMID 24474277 2014 Identification of mutations causing inherited retinal degenerations in the israeli and palestinian populations using homozygosity mapping.

PMID 26261414 2015 Nonsyndromic retinitis pigmentosa is highly prevalent in the Jerusalem region with a high frequency of founder mutations.

rs319924 in EYS;PHF3 gene and Unipolar Depression PMID 30571770 2018 Genome-wide interaction study of a proxy for stress-sensitivity and its prediction of major depressive disorder.