SAG Chromosome 2

S-antigen visual arrestin
59 variants 59 Health Risk

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What This Gene Does
Members of arrestin/beta-arrestin protein family are thought to participate in agonist-mediated desensitization of G-protein-coupled receptors and cause specific dampening of cellular responses to stimuli such as hormones, neurotransmitters, or sensory signals. S-arrestin, also known as S-antigen, is a major soluble photoreceptor protein that is involved in desensitization of the photoactivated transduction cascade. It is expressed in the retina and the pineal gland and inhibits coupling of rhodopsin to transducin in vitro. Additionally, S-arrestin is highly antigenic, and is capable of inducing experimental autoimmune uveoretinitis. Mutations in this gene have been associated with Oguchi disease, a rare autosomal recessive form of night blindness. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Classical arrestins
Locus Type
gene with protein product
Location
2q37.1
Ensembl
ENSG00000130561
Associated Conditions (10)
Retinitis pigmentosa
Oguchi disease
Retinal dystrophy
Retinitis pigmentosa 96
Oguchi disease-1
Retinitis pigmentosa 47
Cone dystrophy
SAG-related disorder
Inborn genetic diseases
Oguchi disease-2
Key Variants
All Variants (59)
RSID Category Clinical Significance Conditions
RS374930316 Health Risk Pathogenic
RS397514681 Health Risk Pathogenic Oguchi disease, Oguchi disease-1, SAG-related disorder
RS397514682 Health Risk Pathogenic Oguchi disease, Retinitis pigmentosa 47, Oguchi disease
RS587776778 Health Risk Pathogenic Oguchi disease, Retinitis pigmentosa 47, SAG-related disorder
RS587777209 Health Risk Pathogenic Oguchi disease, Oguchi disease
RS753107507 Health Risk Pathogenic Retinal dystrophy, Retinitis pigmentosa 96, Retinal dystrophy
RS759639806 Health Risk Pathogenic
RS1233480483 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS748204331 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
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