Nomenclature: presenilin 2 (Alzheimer disease 4)

Family: A22: Presenilin

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

Contents

Gene and Protein Information
Species TM AA Chromosomal Location Gene Symbol Gene Name Reference
Human - 448 1q31-q42 PSEN2 presenilin 2 (Alzheimer disease 4)
Mouse - 448 1 H4 Psen2 presenilin 2
Rat - 448 13q26 Psen2 presenilin 2
Previous and Unofficial Names
AD3L
AD4
Ad4h
ALG-3
Alg3
presenilin 2
presenilin-2
PS-2
PS2
Psnl2
STM2
Database Links
BRENDA
ChEMBL Target
Ensembl Gene
Entrez Gene
ExplorEnz
GeneCards
GenitoUrinary Development Molecular Anatomy Project
InterPro
KEGG BRITE Hierarchy
KEGG Gene
MEROPS
OMIM
Orphanet Gene
RefSeq Nucleotide
RefSeq Protein
TreeFam
UniGene Hs.
UniProtKB
Enzyme Reaction
EC Number: 3.4.23.-
Clinically-Relevant Mutations and Pathophysiology
Disease:  Alzheimer disease 4
OMIM:  606889
Orphanet:  1020
References: 
Mutations not determined
Disease:  Cardiomyopathy, dilated, 1V
OMIM:  613697
Orphanet:  154
References: 
Mutations not determined

IUPHAR-DB (through the Guide to PHARMACOLOGY portal) curates quantitative bioactivity mappings for all approved, clinical and selected actively pursued research targets. Data for additional protein mappings from medicinal chemistry papers and selected PubChem Bioassays can be found in the ChEMBL links.

To cite this database page, please use the following:

A22: Presenilin: presenilin 2 (Alzheimer disease 4). Last modified on 25/03/2014. Accessed on 23/08/2014. IUPHAR database (IUPHAR-DB), http://www.iuphar-db.org/DATABASE/ObjectDisplayForward?objectId=2403.

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