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PSEN2 presenilin 2 [ Homo sapiens (human) ]

Gene ID: 5664, updated on 20-Jun-2021

Summary

Official Symbol
PSEN2provided by HGNC
Official Full Name
presenilin 2provided by HGNC
Primary source
HGNC:HGNC:9509
See related
Ensembl:ENSG00000143801 MIM:600759
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
AD4; PS2; AD3L; STM2; CMD1V
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]
Expression
Ubiquitous expression in testis (RPKM 4.6), prostate (RPKM 4.4) and 25 other tissues See more
Orthologs
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Genomic context

See PSEN2 in Genome Data Viewer
Location:
1q42.13
Exon count:
16
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (226870594..226903829)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (227058317..227083799)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 12356 Neighboring gene uncharacterized LOC105373119 Neighboring gene uncharacterized LOC107985354 Neighboring gene coenzyme Q8A

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

HIV-1 interactions

Replication interactions

Interaction Pubs
Knockdown of presenilin 2 (Alzheimer disease 4, PSEN2) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1 PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables aspartic endopeptidase activity, intramembrane cleaving IEA
Inferred from Electronic Annotation
more info
 
enables endopeptidase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in Notch receptor processing IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in Notch receptor processing TAS
Traceable Author Statement
more info
PubMed 
involved_in Notch receptor processing, ligand-dependent TAS
Traceable Author Statement
more info
 
involved_in amyloid precursor protein catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in amyloid precursor protein catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
involved_in amyloid precursor protein catabolic process TAS
Traceable Author Statement
more info
PubMed 
involved_in amyloid-beta formation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in amyloid-beta metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in calcium ion transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in ephrin receptor signaling pathway TAS
Traceable Author Statement
more info
 
involved_in intracellular signal transduction IEA
Inferred from Electronic Annotation
more info
 
involved_in membrane protein ectodomain proteolysis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in membrane protein ectodomain proteolysis IDA
Inferred from Direct Assay
more info
PubMed 
involved_in membrane protein intracellular domain proteolysis TAS
Traceable Author Statement
more info
 
involved_in mitochondrion-endoplasmic reticulum membrane tethering IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of apoptotic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in positive regulation of apoptotic process TAS
Traceable Author Statement
more info
 
involved_in positive regulation of catalytic activity IDA
Inferred from Direct Assay
more info
PubMed 
involved_in protein processing IDA
Inferred from Direct Assay
more info
PubMed 
involved_in regulation of calcium import into the mitochondrion IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
located_in Golgi apparatus IDA
Inferred from Direct Assay
more info
PubMed 
located_in Golgi membrane IEA
Inferred from Electronic Annotation
more info
 
is_active_in Z disc IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
is_active_in apical plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
is_active_in cell cortex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
is_active_in cell surface IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in centrosome IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in ciliary rootlet IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
is_active_in dendritic shaft IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
located_in endoplasmic reticulum membrane IEA
Inferred from Electronic Annotation
more info
 
part_of gamma-secretase complex IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in growth cone IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
is_active_in integral component of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in integral component of plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in kinetochore IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in lysosomal membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in membrane HDA PubMed 
is_active_in membrane raft IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
is_active_in mitochondrial inner membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
is_active_in neuromuscular junction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
is_active_in neuronal cell body IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in nuclear inner membrane IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
is_active_in perinuclear region of cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in plasma membrane TAS
Traceable Author Statement
more info
 
part_of protein-containing complex IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
presenilin-2
Names
AD3LP
AD5
Alzheimer disease 4
E5-1
PS-2
STM-2

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_007381.2 RefSeqGene

    Range
    5433..30915
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_225

mRNA and Protein(s)

  1. NM_000447.3NP_000438.2  presenilin-2 isoform 1

    See identical proteins and their annotated locations for NP_000438.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    BT006984, DA198818, DA915823, L43964
    Consensus CDS
    CCDS1556.1
    UniProtKB/Swiss-Prot
    P49810
    Related
    ENSP00000355747.3, ENST00000366783.8
    Conserved Domains (1) summary
    pfam01080
    Location:82438
    Presenilin
  2. NM_012486.3NP_036618.2  presenilin-2 isoform 2

    See identical proteins and their annotated locations for NP_036618.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate splice acceptor site at exon 10 compared to transcript variant 1, resulting in an isoform (2) that is 1 aa shorter than isoform 1.
    Source sequence(s)
    DA198818, DA915823, L43964, U34349
    Consensus CDS
    CCDS44324.1
    UniProtKB/Swiss-Prot
    P49810
    Related
    ENSP00000403737.2, ENST00000422240.6
    Conserved Domains (1) summary
    pfam01080
    Location:82437
    Presenilin

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    226870594..226903829
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005273199.4XP_005273256.1  presenilin-2 isoform X1

    See identical proteins and their annotated locations for XP_005273256.1

    UniProtKB/Swiss-Prot
    P49810
    Related
    ENSP00000503116.1, ENST00000677414.1
    Conserved Domains (1) summary
    pfam01080
    Location:82438
    Presenilin
  2. XM_017001836.1XP_016857325.1  presenilin-2 isoform X2

    UniProtKB/Swiss-Prot
    P49810
    Related
    ENSP00000503244.1, ENST00000676747.1
    Conserved Domains (1) summary
    pfam01080
    Location:82437
    Presenilin
  3. XM_017001835.1XP_016857324.1  presenilin-2 isoform X1

    UniProtKB/Swiss-Prot
    P49810
    Conserved Domains (1) summary
    pfam01080
    Location:82438
    Presenilin

RNA

  1. XR_001737316.2 RNA Sequence

  2. XR_001737317.2 RNA Sequence

    Related
    ENST00000678784.1
  3. XR_949150.3 RNA Sequence

  4. XR_001737318.2 RNA Sequence

    Related
    ENST00000677596.1
  5. XR_949149.2 RNA Sequence

    Related
    ENST00000676888.1
  6. XR_001737321.1 RNA Sequence

  7. XR_001737319.1 RNA Sequence

  8. XR_001737320.1 RNA Sequence

    Related
    ENST00000678776.1
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