Gene:
NR2E3
nuclear receptor subfamily 2, group E, member 3

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 has no annotated drug labels with pharmacogenomic information for this . If you know of a drug label with PGx, send us a message.

PharmGKB contains no Clinical Variants that meet the highest level of criteria.

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:  None
Alternate Symbols:  PNR; RP37; rd7
PharmGKB Accession Id: PA31757

Details

Cytogenetic Location: chr15 : q22.32 - q23
GP mRNA Boundary: chr15 : 72102894 - 72110600
GP Gene Boundary: chr15 : 72092894 - 72113600
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.

Publications related to NR2E3: 1

No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Recurrent mutation in the first zinc finger of the orphan nuclear receptor NR2E3 causes autosomal dominant retinitis pigmentosa. American journal of human genetics. 2007. Coppieters Frauke, et al. PubMed

LinkOuts

Entrez Gene:
10002
OMIM:
268100
604485
611131
UCSC Genome Browser:
NM_014249
RefSeq RNA:
NM_014249
NM_016346
RefSeq Protein:
NP_055064
NP_057430
RefSeq DNA:
AC_000058
AC_000147
NC_000015
NG_009113
NT_010194
NW_001838218
NW_925884
UniProtKB:
B6ZGU0_HUMAN (B6ZGU0)
NR2E3_HUMAN (Q9Y5X4)
Ensembl:
ENSG00000031544
GenAtlas:
NR2E3
GeneCard:
NR2E3
MutDB:
NR2E3
ALFRED:
LO102839X
HuGE:
NR2E3
Comparative Toxicogenomics Database:
10002
ModBase:
Q9Y5X4
HumanCyc Gene:
HS00480
HGNC:
7974

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