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PSEN2 presenilin 2 [ Homo sapiens (human) ]

Gene ID: 5664, updated on 30-Jun-2015
Official Symbol
PSEN2provided by HGNC
Official Full Name
presenilin 2provided by HGNC
Primary source
HGNC:HGNC:9509
See related
Ensembl:ENSG00000143801; HPRD:02860; MIM:600759; Vega:OTTHUMG00000037563
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]
Orthologs
See PSEN2 in Epigenomics, MapViewer
Location:
1q42.13
Exon count:
15
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 1 NC_000001.11 (226870572..226896103)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (227057885..227083804)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105373118 Neighboring gene uncharacterized LOC105373119 Neighboring gene uncharacterized LOC105373120 Neighboring gene aarF domain containing kinase 3 Neighboring gene glucose-dependent insulinotropic receptor-like

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

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

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

  • Homologs of the PSEN2 gene: The PSEN2 gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, zebrafish, fruit fly, mosquito, C.elegans, S.cerevisiae, K.lactis, E.gossypii, S.pombe, M.oryzae, N.crassa, A.thaliana, rice, and frog.
  • Orthologs from Annotation Pipeline: 151 organisms have orthologs with human gene PSEN2
  • Map Viewer (Mouse, Rat)

Gene Ontology Provided by GOA

Function Evidence Code Pubs
aspartic-type endopeptidase activity IEA
Inferred from Electronic Annotation
more info
 
endopeptidase activity IBA
Inferred from Biological aspect of Ancestor
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
Notch receptor processing TAS
Traceable Author Statement
more info
PubMed 
Notch signaling pathway TAS
Traceable Author Statement
more info
 
T cell activation involved in immune response IEA
Inferred from Electronic Annotation
more info
 
T cell receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
 
amyloid precursor protein catabolic process TAS
Traceable Author Statement
more info
PubMed 
apoptotic signaling pathway TAS
Traceable Author Statement
more info
 
axon guidance TAS
Traceable Author Statement
more info
 
beta-amyloid metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
 
brain morphogenesis IEA
Inferred from Electronic Annotation
more info
 
calcium ion transport IBA
Inferred from Biological aspect of Ancestor
more info
 
cardiac muscle contraction IEA
Inferred from Electronic Annotation
more info
 
cell fate specification IEA
Inferred from Electronic Annotation
more info
 
dorsal/ventral neural tube patterning IEA
Inferred from Electronic Annotation
more info
 
embryonic limb morphogenesis IEA
Inferred from Electronic Annotation
more info
 
endoplasmic reticulum calcium ion homeostasis IEA
Inferred from Electronic Annotation
more info
 
ephrin receptor signaling pathway TAS
Traceable Author Statement
more info
 
forebrain development IEA
Inferred from Electronic Annotation
more info
 
hair follicle development IEA
Inferred from Electronic Annotation
more info
 
hematopoietic progenitor cell differentiation IEA
Inferred from Electronic Annotation
more info
 
intracellular signal transduction IEA
Inferred from Electronic Annotation
more info
 
lung alveolus development IEA
Inferred from Electronic Annotation
more info
 
membrane protein ectodomain proteolysis IDA
Inferred from Direct Assay
more info
PubMed 
membrane protein intracellular domain proteolysis TAS
Traceable Author Statement
more info
 
memory IEA
Inferred from Electronic Annotation
more info
 
myeloid leukocyte differentiation IEA
Inferred from Electronic Annotation
more info
 
negative regulation of apoptotic process IBA
Inferred from Biological aspect of Ancestor
more info
 
negative regulation of extrinsic apoptotic signaling pathway via death domain receptors IEA
Inferred from Electronic Annotation
more info
 
negative regulation of protein binding IEA
Inferred from Electronic Annotation
more info
 
negative regulation of protein complex assembly IEA
Inferred from Electronic Annotation
more info
 
negative regulation of protein phosphorylation IEA
Inferred from Electronic Annotation
more info
 
neurotrophin TRK receptor signaling pathway TAS
Traceable Author Statement
more info
 
positive regulation of apoptotic process TAS
Traceable Author Statement
more info
 
positive regulation of catalytic activity IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of coagulation IEA
Inferred from Electronic Annotation
more info
 
protein processing IDA
Inferred from Direct Assay
more info
PubMed 
protein transport IEA
Inferred from Electronic Annotation
more info
 
regulation of epidermal growth factor-activated receptor activity IEA
Inferred from Electronic Annotation
more info
 
regulation of synaptic plasticity IEA
Inferred from Electronic Annotation
more info
 
somitogenesis IEA
Inferred from Electronic Annotation
more info
 
thymus development IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
Golgi apparatus IDA
Inferred from Direct Assay
more info
PubMed 
Golgi membrane IEA
Inferred from Electronic Annotation
more info
 
Z disc IBA
Inferred from Biological aspect of Ancestor
more info
 
apical plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
 
axon IBA
Inferred from Biological aspect of Ancestor
more info
 
cell cortex IBA
Inferred from Biological aspect of Ancestor
more info
 
cell surface IBA
Inferred from Biological aspect of Ancestor
more info
 
centrosome IDA
Inferred from Direct Assay
more info
PubMed 
ciliary basal body IEA
Inferred from Electronic Annotation
more info
 
ciliary rootlet IBA
Inferred from Biological aspect of Ancestor
more info
 
cytosol IEA
Inferred from Electronic Annotation
more info
 
dendritic shaft IBA
Inferred from Biological aspect of Ancestor
more info
 
endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
endoplasmic reticulum membrane IEA
Inferred from Electronic Annotation
more info
 
growth cone IBA
Inferred from Biological aspect of Ancestor
more info
 
integral component of plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
kinetochore IDA
Inferred from Direct Assay
more info
PubMed 
lysosomal membrane IBA
Inferred from Biological aspect of Ancestor
more info
 
membrane IDA
Inferred from Direct Assay
more info
PubMed 
membrane raft IBA
Inferred from Biological aspect of Ancestor
more info
 
mitochondrial inner membrane IBA
Inferred from Biological aspect of Ancestor
more info
 
neuromuscular junction IBA
Inferred from Biological aspect of Ancestor
more info
 
neuronal cell body IBA
Inferred from Biological aspect of Ancestor
more info
 
nuclear inner membrane IDA
Inferred from Direct Assay
more info
PubMed 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
 
perinuclear region of cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 
protein complex IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
presenilin-2
Names
AD3LP
AD5
Alzheimer disease 4
E5-1
PS-2
STM-2

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_007381.1 RefSeqGene

    Range
    5001..30532
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000447.2NP_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)
    AI091221, BT006984, DA198818, DA915823, L43964
    Consensus CDS
    CCDS1556.1
    UniProtKB/Swiss-Prot
    P49810
    Related
    ENSP00000355747, OTTHUMP00000035671, ENST00000366783, OTTHUMT00000091539
    Conserved Domains (1) summary
    pfam01080
    Location:76439
    Presenilin; Presenilin
  2. NM_012486.2NP_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)
    AI091221, DA198818, DA915823, L43964, U34349
    Consensus CDS
    CCDS44324.1
    UniProtKB/Swiss-Prot
    P49810
    Related
    ENSP00000403737, OTTHUMP00000228286, ENST00000422240, OTTHUMT00000091545
    Conserved Domains (1) summary
    pfam01080
    Location:76438
    Presenilin; Presenilin

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p2 Primary Assembly

    Range
    226870572..226896103
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005273199.2XP_005273256.1  

    See identical proteins and their annotated locations for XP_005273256.1

    UniProtKB/Swiss-Prot
    P49810
    Related
    ENSP00000486498, ENST00000626989
    Conserved Domains (1) summary
    pfam01080
    Location:76439
    Presenilin; Presenilin
  2. XM_011544236.1XP_011542538.1  

    Conserved Domains (1) summary
    cl01342
    Location:1295
    Peptidase_A22B; Signal peptide peptidase

RNA

  1. XR_949149.1 RNA Sequence

  2. XR_949150.1 RNA Sequence

Alternate CHM1_1.1

Genomic

  1. NC_018912.2 Alternate CHM1_1.1

    Range
    228331030..228356564
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)