SAG
Chr 2S-antigen visual arrestin
Also known as: RP47, RP96, S-AG
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]
Primary Disease Associations & Inheritance
Clinical highlights
Some data sources returned errors (1)
omim: Error: OMIM fetch failed: 429
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
SAG · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
COVID-19 Transmission and Morbidity in Malawi
RECRUITINGComparison of the Outcomes of Single vs Multiple Arterial Grafts in Women
RECRUITINGRandomization of Single vs Multiple Arterial Grafts
RECRUITINGEffects of Different Hyperextension Braces on Spinal Mobility
ENROLLING BY INVITATIONA Study Comparing Oral Buprenorphine and Injectable Buprenorphine for the Treatment of Opioid Use Disorder
RECRUITINGSwiss Austrian German Testicular Cancer Cohort Study - SAG TCCS
RECRUITINGAssessment of Outcomes of Double-bundle Posterior Cruciate Ligament Reconstruction (DB-PCLR)
RECRUITINGINTERCEPT Blood System for RBCs Study in Regions at Potential Risk for Zika Virus Transfusion-Transmitted Infections
ACTIVE NOT RECRUITINGClean Trial - Chlorination to Reduce Enteric and Antibiotic Resistant Infections in Neonates
RECRUITINGReducing Vertical Transmission of Hepatitis B in Africa
ACTIVE NOT RECRUITINGA Comparative Prospective Study of the Arthroscopic Meniscal Repair Methods
RECRUITINGVideo-immunotherapy: a New Approach in Breast Cancer Treatment
ENROLLING BY INVITATIONExternal Resources
Links to major genomics databases and tools