Gene and Protein Information
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

AD3L | AD4 | Alg3 | PS2 | Psnl2 | STM2 | presenilin 2 (Alzheimer disease 4)

Database Links
Specialist databases
MEROPS	A22.002 (Hs)
Other databases
Alphafold	P49810 (Hs), Q61144 (Mm), O88777 (Rn)
BRENDA	3.4.23.-
ChEMBL Target	CHEMBL3708 (Hs)
Ensembl Gene	ENSG00000143801 (Hs), ENSMUSG00000010609 (Mm), ENSRNOG00000002879 (Rn)
Entrez Gene	5664 (Hs), 19165 (Mm), 81751 (Rn)
Human Protein Atlas	ENSG00000143801 (Hs)
KEGG Enzyme	3.4.23.-
KEGG Gene	hsa:5664 (Hs), mmu:19165 (Mm), rno:81751 (Rn)
OMIM	600759 (Hs)
Orphanet	ORPHA118105 (Hs)
Pharos	P49810 (Hs)
RefSeq Nucleotide	NM_000447 (Hs), NM_012486 (Hs), NM_011183 (Mm), NM_001128605 (Mm), NM_031087 (Rn)
RefSeq Protein	NP_036618 (Hs), NP_000438 (Hs), NP_001122077 (Mm), NP_035313 (Mm), NP_112349 (Rn)
UniProtKB	P49810 (Hs), Q61144 (Mm), O88777 (Rn)
Wikipedia	PSEN2 (Hs)

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