SAG Chromosome 2

S-antigen visual arrestin
59 variants 59 Health Risk

Upload your DNA to see your personal genotypes for variants in SAG.

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
RS112613526 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Oguchi disease, Retinitis pigmentosa
RS115857633 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Oguchi disease, Retinal dystrophy
RS1324934886 Health Risk Conflicting classifications of pathogenicity Oguchi disease, Oguchi disease
RS1356753192 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS137886124 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa 96, Oguchi disease-1
RS140569105 Health Risk Conflicting classifications of pathogenicity Oguchi disease, Retinitis pigmentosa, Oguchi disease
RS141521563 Health Risk Conflicting classifications of pathogenicity Oguchi disease, Retinitis pigmentosa, Retinal dystrophy
RS143418950 Health Risk Conflicting classifications of pathogenicity Oguchi disease, Retinitis pigmentosa, Oguchi disease
RS1484802068 Health Risk Conflicting classifications of pathogenicity Cone dystrophy, Cone dystrophy
RS150046934 Health Risk Conflicting classifications of pathogenicity Oguchi disease, Retinitis pigmentosa, SAG-related disorder
RS1700011294 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS183383266 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS183412440 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS189763324 Health Risk Conflicting classifications of pathogenicity Oguchi disease, Retinitis pigmentosa, Oguchi disease
RS190853693 Health Risk Conflicting classifications of pathogenicity Oguchi disease, Retinitis pigmentosa, SAG-related disorder
RS199839554 Health Risk Conflicting classifications of pathogenicity Oguchi disease, Retinitis pigmentosa, SAG-related disorder
RS200078242 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Oguchi disease, SAG-related disorder
RS201130629 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS374774483 Health Risk Conflicting classifications of pathogenicity
RS375593027 Health Risk Conflicting classifications of pathogenicity Oguchi disease, Retinitis pigmentosa, SAG-related disorder
RS552862207 Health Risk Conflicting classifications of pathogenicity
RS749633616 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS753990994 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Oguchi disease, Retinitis pigmentosa
RS757487948 Health Risk Conflicting classifications of pathogenicity
RS765255437 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS79922016 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Oguchi disease, Retinitis pigmentosa
RS886042737 Health Risk Conflicting classifications of pathogenicity
RS1202027636 Health Risk Likely pathogenic
RS1701063284 Health Risk Likely pathogenic
RS201086679 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2125324202 Health Risk Likely pathogenic
RS2469753792 Health Risk Likely pathogenic
RS2469765655 Health Risk Likely pathogenic Oguchi disease-1, Oguchi disease-1
RS373268816 Health Risk Likely pathogenic
RS750740193 Health Risk Likely pathogenic Retinitis pigmentosa 96, Retinitis pigmentosa 47, Oguchi disease-1
RS766104513 Health Risk Likely pathogenic Retinitis pigmentosa, Oguchi disease, Inborn genetic diseases
RS771810575 Health Risk Likely pathogenic Retinitis pigmentosa 47, Oguchi disease-1, Retinitis pigmentosa 96
RS779062750 Health Risk Likely pathogenic
RS779364622 Health Risk Likely pathogenic
RS780117205 Health Risk Likely pathogenic
RS929766806 Health Risk Likely pathogenic Oguchi disease, Oguchi disease
RS1359089022 Health Risk Pathogenic
RS1559435824 Health Risk Pathogenic
RS1574942567 Health Risk Pathogenic Oguchi disease, Oguchi disease
RS1700648887 Health Risk Pathogenic Oguchi disease-2, Oguchi disease-2
RS1700874955 Health Risk Pathogenic
RS201153410 Health Risk Pathogenic Oguchi disease, Retinal dystrophy, Oguchi disease-2
RS2125336905 Health Risk Pathogenic
RS2125344040 Health Risk Pathogenic
RS2469789534 Health Risk Pathogenic
Sign Up to Analyze Your DNA Log In