PSEN2

GENE INFORMATION

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Gene name

PSEN2 (HGNC Symbol)

Synonyms

AD3L, AD4, PS2, STM2

Description

presenilin 2 (Alzheimer disease 4) (HGNC Symbol)

Entrez gene summary

Alzheimer's disease (AD) patients with an inherited form of the disease carry mutations in the presenilin proteins (PSEN1 or PSEN2) or the amyloid precursor protein (APP). These disease-linked mutations result in increased production of the longer form of amyloid-beta (main component of amyloid deposits found in AD brains). Presenilins are postulated to regulate APP processing through their effects on gamma-secretase, an enzyme that cleaves APP. Also, it is thought that the presenilins are involved in the cleavage of the Notch receptor such that, they either directly regulate gamma-secretase activity, or themselves act are protease enzymes. Two alternatively spliced transcript variants encoding different isoforms of PSEN2 have been identified. [provided by RefSeq, Jul 2008]

Chromosome

1 (Chromosome progress)

Cytoband

q42.13

Chromosome location (bp)

227057885 - 227083806

Ensembl

ENSG00000143801 (version 73.37)

Entrez gene

5664

UniProt

P49810 (UniProt - Evidence at protein level)

neXtProt

NX_P49810

Antibodypedia

PSEN2 antibodies
 

PROTEIN VIEW

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PSEN2-001
 
PSEN2-002
 
PSEN2-003
 
PSEN2-004
 
PSEN2-005
 
PSEN2-006
 
PSEN2-007
 
PSEN2-010
 
PSEN2-201
 
PSEN2-202
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

PSEN2-001 ENSP00000355747
ENST00000366783
P49810
Show all »
Show » Show » 448 50.1 No 8
PSEN2-002 ENSP00000355746
ENST00000366782
B1AP22
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Show » Show » 481 53.7 No 8
PSEN2-003 ENSP00000430647
ENST00000496965
E5RJ26
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Show » Show » 360 40.5 No 6
PSEN2-004 ENSP00000429682
ENST00000495488
E5RHT1
Show all »
Show » Show » 129 14.5 No 1
PSEN2-005 ENSP00000427912
ENST00000460775
E5RFW4
Show all »
Show » Show » 145 16.2 No 3
PSEN2-006 ENSP00000427806
ENST00000472139
E5RG63
Show all »
Show » Show » 304 34.1 No 7
PSEN2-007 ENSP00000403737
ENST00000422240
P49810
Show all »
Show » Show » 447 50 No 8
PSEN2-010 ENSP00000429036
ENST00000524196
E5RJM5
Show all »
Show » 21 2.4 No 0
PSEN2-201 ENSP00000339860
ENST00000340188
C9J5P7
Show all »
Show » Show » 415 46.5 No 8
PSEN2-202 ENSP00000375745
ENST00000391872
B1AP22
Show all »
Show » Show » 481 53.7 No 8