SAG Chromosome 2
S-antigen visual arrestin
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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
RS112613526
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Oguchi disease, Retinitis pigmentosa
Health Risk
RS115857633
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Oguchi disease, Retinal dystrophy
Health Risk
RS1324934886
Conflicting classifications of pathogenicity
Oguchi disease, Oguchi disease
Health Risk
RS1356753192
Conflicting classifications of pathogenicity
Retinal dystrophy, Retinal dystrophy
Health Risk
RS137886124
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Retinitis pigmentosa 96, Oguchi disease-1
Health Risk
RS140569105
Conflicting classifications of pathogenicity
Oguchi disease, Retinitis pigmentosa, Oguchi disease
Health Risk
RS141521563
Conflicting classifications of pathogenicity
Oguchi disease, Retinitis pigmentosa, Retinal dystrophy
Health Risk
RS143418950
Conflicting classifications of pathogenicity
Oguchi disease, Retinitis pigmentosa, Oguchi disease
Health Risk
RS1484802068
Conflicting classifications of pathogenicity
Cone dystrophy, Cone dystrophy
Health Risk
RS150046934
Conflicting classifications of pathogenicity
Oguchi disease, Retinitis pigmentosa, SAG-related disorder
Health Risk
RS1700011294
Conflicting classifications of pathogenicity
Retinal dystrophy, Retinal dystrophy
Health Risk
RS183383266
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
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 |