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presenilin 2

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Target id: 2403

Nomenclature: presenilin 2

Family: A22: Presenilin

Gene and Protein Information Click here for help
Species TM AA Chromosomal Location Gene Symbol Gene Name Reference
Human 8 448 1q42.13 PSEN2 presenilin 2
Mouse 8 448 1 84.19 cM Psen2 presenilin 2
Rat 8 448 13q26 Psen2 presenilin 2
Previous and Unofficial Names Click here for help
AD3L | AD4 | Alg3 | PS2 | Psnl2 | STM2 | presenilin 2 (Alzheimer disease 4)
Database Links Click here for help
Specialist databases
MEROPS A22.002 (Hs)
Other databases
Alphafold
BRENDA
ChEMBL Target
Ensembl Gene
Entrez Gene
Human Protein Atlas
KEGG Enzyme
KEGG Gene
OMIM
Orphanet
Pharos
RefSeq Nucleotide
RefSeq Protein
UniProtKB
Wikipedia
Enzyme Reaction Click here for help
EC Number: 3.4.23.-
Immuno Process Associations
Immuno Process:  Cellular signalling
Immuno Process:  Immune regulation
Immuno Process:  Immune system development
Immuno Process:  Inflammation
Immuno Process:  T cell (activation)
Clinically-Relevant Mutations and Pathophysiology Click here for help
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 28/11/2022. IUPHAR/BPS Guide to PHARMACOLOGY, http://www.guidetomalariapharmacology.org/GRAC/ObjectDisplayForward?objectId=2403.