Gene:
PSEN2
presenilin 2 (Alzheimer disease 4)

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:  None
Alternate Symbols:  AD3L; PS2; STM2
PharmGKB Accession Id: PA33856

Details

Cytogenetic Location: chr1 : q42.13 - q42.13
GP mRNA Boundary: chr1 : 227058273 - 227083804
GP Gene Boundary: chr1 : 227048273 - 227086804
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 PSEN2: 7

No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Genetic counseling and testing for Alzheimer disease: Joint practice guidelines of the American College of Medical Genetics and the National Society of Genetic Counselors. Genetics in medicine : official journal of the American College of Medical Genetics. 2011. Goldman Jill S, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
A genomewide screen for late-onset Alzheimer disease in a genetically isolated Dutch population. American journal of human genetics. 2007. Liu Fan, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Mutations of presenilin genes in dilated cardiomyopathy and heart failure. American journal of human genetics. 2006. Li Duanxiang, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
A century of Alzheimer's disease. Science (New York, N.Y.). 2006. Goedert Michel, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Promoter mutations that increase amyloid precursor-protein expression are associated with Alzheimer disease. American journal of human genetics. 2006. Theuns Jessie, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Inhibition of cyclooxygenase as potential novel therapeutic strategy in N141I presenilin-2 familial Alzheimer's disease. Molecular psychiatry. 2006. Qin W, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Anti-oestrogen stimulation of ERBB2 ectodomain shedding from BT-474 human breast cancer cells with ERBB2 gene amplification. European journal of cancer (Oxford, England : 1990). 1996. Wärri A M, et al. PubMed

LinkOuts

Entrez Gene:
5664
OMIM:
600759
606889
UCSC Genome Browser:
NM_000447
RefSeq RNA:
NM_000447
NM_012486
RefSeq Protein:
NP_000438
NP_036618
RefSeq DNA:
AC_000044
AC_000133
NC_000001
NG_007381
NT_167186
NW_001838543
NW_927128
UniProtKB:
A8K8D4_HUMAN (A8K8D4)
PSN2_HUMAN (P49810)
Ensembl:
ENSG00000143801
GenAtlas:
PSEN2
GeneCard:
PSEN2
MutDB:
PSEN2
ALFRED:
LO009139W
HuGE:
PSEN2
Comparative Toxicogenomics Database:
5664
ModBase:
P49810
HumanCyc Gene:
HS07108
HGNC:
9509

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