presenilin 2 | A22: Presenilin | IUPHAR/BPS Guide to PHARMACOLOGY

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presenilin 2

Target not currently curated in GtoImmuPdb

Target id: 2403

Nomenclature: presenilin 2

Family: A22: Presenilin

Annotation status:  image of a grey circle Awaiting annotation/under development. Please contact us if you can help with annotation.  » Email us

Gene and Protein Information
Species TM AA Chromosomal Location Gene Symbol Gene Name Reference
Human - 448 1q31-q42 PSEN2 presenilin 2
Mouse - 448 1 H4 Psen2 presenilin 2
Rat - 448 13q26 Psen2 presenilin 2
Previous and Unofficial Names
AD3L | AD4 | Alg3 | PS2 | Psnl2 | STM2 | presenilin 2 (Alzheimer disease 4)
Database Links
Specialist databases
MEROPS A22.002 (Hs)
Other databases
ChEMBL Target
Ensembl Gene
Entrez Gene
Human Protein Atlas
KEGG Enzyme
RefSeq Nucleotide
RefSeq Protein
Enzyme Reaction
EC Number: 3.4.23.-
Clinically-Relevant Mutations and Pathophysiology
Disease:  Alzheimer disease 4
Synonyms: Alzheimer's disease [Disease Ontology: DOID:10652]
Early-onset autosomal dominant Alzheimer disease [Orphanet: ORPHA1020]
Disease Ontology: DOID:10652
OMIM: 606889
Orphanet: ORPHA1020
Disease:  Cardiomyopathy, dilated, 1V; CMD1V
Synonyms: Dilated cardiomyopathy [Disease Ontology: DOID:12930]
Familial isolated dilated cardiomyopathy [Orphanet: ORPHA154]
Disease Ontology: DOID:12930
OMIM: 613697
Orphanet: ORPHA154

How to cite this page

A22: Presenilin: presenilin 2. Last modified on 25/03/2014. Accessed on 18/11/2019. IUPHAR/BPS Guide to PHARMACOLOGY,