QuickView for Presenilin 2 (gene)

Gene Symbol:

PSEN2 Homo sapiens

Full name:

presenilin 2

Synonyms:

AD3L, AD4, CMD1V, PS2, STM2, presenilin-2, AD3LP, AD5, Alzheimer disease 4, E5-1, PS-2, STM-2

Genomic Location:

Chr 1: 225124896-225150427

Description:

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 postulat...

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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.

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Orthologs:

Mus musculus ,  Rattus norvegicus ,  Macaca mulatta ,  Bos taurus ,  Gallus gallus ,  Pan troglodytes ,  Canis lupus familiaris ,  Danio rerio

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

GTGCCAT_MIR183 ,  MYC_Q2 ,  CACGTG_MYC_Q2 ,  TGTTTAC_MIR30A5P_MIR30C_MIR30D_MIR30B_MIR30E5P ,  CAGGTG_E12_Q6 ,  USF_C ,  NMYC_01 ,  USF2_Q6

miRNA binding sites
(Source: TargetScan):

Predicted Gene Targets for miR-183 ,  Predicted Gene Targets for miR-30

Cytogenetic Map:

1q42.13

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