Gene:
SAG
S-antigen; retina and pineal gland (arrestin)

PharmGKB contains no dosing guidelines for this . To report known genotype-based dosing guidelines, or if you are interested in developing guidelines, click here.

PharmGKB contains no drug labels with pharmacogenomic information for this . To report a drug label with PGx, click here.

Disclaimer: The PharmGKB's clinical annotations reflect expert consensus based on clinical evidence and peer-reviewed literature available at the time they are written and are intended only to assist clinicians in decision-making and to identify questions for further research. New evidence may have emerged since the time an annotation was submitted to the PharmGKB. The annotations are limited in scope and are not applicable to interventions or diseases that are not specifically identified.

The annotations do not account for individual variations among patients, and cannot be considered inclusive of all proper methods of care or exclusive of other treatments. It remains the responsibility of the health-care provider to determine the best course of treatment for a patient. Adherence to any guideline is voluntary, with the ultimate determination regarding its application to be made solely by the clinician and the patient. PharmGKB assumes no responsibility for any injury or damage to persons or property arising out of or related to any use of the PharmGKB clinical annotations, or for any errors or omissions.

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This is a non-comprehensive list of genetic tests with pharmacogenetics relevance, typically submitted by the manufacturer and manually curated by PharmGKB. The information listed is provided for educational purposes only and does not constitute an endorsement of any listed test or manufacturer.

A more complete listing of genetic tests is found at the Genetic Testing Registry (GTR).

PGx Test Variants Assayed Related Drugs?

Overview

Alternate Names:  arrestin 1
Alternate Symbols:  ARRESTIN; RP47
PharmGKB Accession Id: PA34929

Details

Cytogenetic Location: chr2 : q37.1 - q37.1
GP mRNA Boundary: chr2 : 234216309 - 234255701
GP Gene Boundary: chr2 : 234206309 - 234258701
Strand: plus
The mRNA boundaries are calculated using the gene's default feature set from NCBI, mapped onto the UCSC Golden Path. PharmGKB sets gene boundaries by expanding the mRNA boundaries by no less than 10,000 bases upstream (5') and 3,000 bases downstream (3') to allow for potential regulatory regions.

PharmGKB Curated Pathways

Pathways created internally by PharmGKB based primarily on literature evidence.

PharmGKB contains no curated pathways for this gene. If you would like to volunteer to work on a pathway, please let us know.

External Pathways

Links to non-PharmGKB pathways.

  1. Visual signal transduction: Rods - (Pathway Interaction Database NCI-Nature Curated)

Publications related to SAG: 1

No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Mutations in KCNJ13 cause autosomal-dominant snowflake vitreoretinal degeneration. American journal of human genetics. 2008. Hejtmancik J Fielding, et al. PubMed

LinkOuts

Entrez Gene:
6295
OMIM:
181031
258100
UCSC Genome Browser:
NM_000541
RefSeq RNA:
NM_000541
RefSeq Protein:
NP_000532
RefSeq DNA:
AC_000045
AC_000134
NC_000002
NG_009116
NT_005120
NW_001838868
NW_921618
UniProtKB:
A0FDN6_HUMAN (A0FDN6)
ARRS_HUMAN (P10523)
Ensembl:
ENSG00000130561
GenAtlas:
SAG
GeneCard:
SAG
MutDB:
SAG
ALFRED:
LO012944U
HuGE:
SAG
Comparative Toxicogenomics Database:
6295
ModBase:
P10523
HumanCyc Gene:
HS05404
HGNC:
10521

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