Presenilin-2

"AD4" redirects here. For the Dobbin Class destroyer tender, see USS Whitney (AD-4). For the year, see AD 4.

Presenilin-2 is a protein that (in humans) is encoded by the PSEN2 gene.^[5]

PSEN2
Identifiers
Aliases	PSEN2, AD3L, AD4, CMD1V, PS2, STM2, presenilin 2
External IDs	OMIM: 600759; MGI: 109284; HomoloGene: 386; GeneCards: PSEN2; OMA:PSEN2 - orthologs
Gene location (Human) Chr. Chromosome 1 (human)[1] Band 1q42.13 Start 226,870,184 bp[1] End 226,927,726 bp[1]
Gene location (Mouse) Chr. Chromosome 1 (mouse)[2] Band 1 H4|1 84.19 cM Start 180,054,569 bp[2] End 180,091,003 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in body of pancreas testicle muscle of thigh skeletal muscle tissue gastrocnemius muscle islet of Langerhans right adrenal gland left adrenal cortex right adrenal cortex sural nerve Top expressed in left lobe of liver olfactory epithelium lumbar spinal ganglion facial motor nucleus granulocyte mesenteric lymph nodes stroma of bone marrow primary oocyte iris ankle joint More reference expression data BioGPS More reference expression data
Gene ontology Molecular function endopeptidase activity peptidase activity protein binding hydrolase activity aspartic endopeptidase activity, intramembrane cleaving aspartic-type endopeptidase activity Cellular component integral component of membrane centrosome Golgi apparatus endoplasmic reticulum membrane membrane Golgi membrane plasma membrane integral component of plasma membrane soma nuclear inner membrane Z discdkac endoplasmic reticulum perinuclear region of cytoplasm kinetochore mitochondrial inner membrane lysosomal membrane cell cortex cell surface axon growth cone neuromuscular junction ciliary rootlet dendritic shaft membrane raft nucleus early endosome synaptic vesicle apical plasma membrane protein-containing complex synaptic membrane integral component of presynaptic membrane intracellular anatomical structure Biological process Notch signaling pathway intracellular signal transduction response to hypoxia ephrin receptor signaling pathway protein processing positive regulation of catalytic activity negative regulation of apoptotic process amyloid-beta metabolic process proteolysis membrane protein ectodomain proteolysis membrane protein intracellular domain proteolysis positive regulation of apoptotic process Notch receptor processing calcium ion transport amyloid precursor protein catabolic process Notch receptor processing, ligand-dependent regulation of calcium import into the mitochondrion mitochondrion-endoplasmic reticulum membrane tethering Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 5664 19165 Ensembl ENSG00000143801 ENSMUSG00000010609 UniProt P49810 Q61144 RefSeq (mRNA) NM_000447 NM_012486 NM_001128605 NM_011183 RefSeq (protein) NP_000438 NP_036618 NP_001122077 NP_035313 Location (UCSC) Chr 1: 226.87 – 226.93 Mb Chr 1: 180.05 – 180.09 Mb PubMed search [3] [4]
Wikidata
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Function

Alzheimer's disease (AD) patients with an inherited form of the disease carry mutations in the presenilin proteins (PSEN1; 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 are protease enzymes. Two alternative transcripts of PSEN2 have been identified.^[6]

In melanocytic cells PSEN2 gene expression may be regulated by MITF.^[7]

Interactions

PSEN2 has been shown to interact with:

• BCL2-like 1,^[8]
• CAPN1,^[9]
• CIB1,^[10]
• Calsenilin,^[11][12]
• FHL2,^[13]
• FLNB,^[14]
• KCNIP4,^[15]
• Nicastrin,^[16][17] and
• UBQLN1.^[18]