Description: Homo sapiens presenilin 2 (Alzheimer disease 4) (PSEN2), transcript variant 2, mRNA. RefSeq Summary (NM_012486): 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]. Transcript (Including UTRs) Position: hg19 chr1:227,063,066-227,083,804 Size: 20,739 Total Exon Count: 11 Strand: +
Alzheimer's Disease Ezquerra M 2003, A novel mutation in the PSEN2 gene (T430M) associated with variable expression in a family with early-onset Alzheimer disease., Archives of neurology. 2003 Aug;60(8):1149-51.
[PubMed 12925374]
We have found a novel mutation in the PSEN2 gene in a family with early-onset Alzheimer disease. The variation in the age at onset confirms that PSEN2 mutations are associated with variable clinical expression.
Alzheimer's Disease Di Natale M et al. 2003, Absence of association between Alzheimer disease and the regulatory region polymorphism of the PS2 gene in an Italian population., Neuroscience letters. 2003 Jun;343(3):210-2.
[PubMed 12770698]
The current study does not support the notion that the polymorphism in the PS2 gene constitutes a risk factor for either late-onset or early-onset AD, which means that other genetic factors play a role in the development of AD in the Italian population.
Echocardiography Ramachandran S Vasan et al. BMC medical genetics 2007, Genome-wide association of echocardiographic dimensions, brachial artery endothelial function and treadmill exercise responses in the Framingham Heart Study., BMC medical genetics.
[PubMed 17903301]
In hypothesis-generating GWAS of echocardiography, ETT and BA vascular function in a moderate-sized community-based sample, we identified several SNPs that are candidates for replication attempts and we provide a web-based GWAS resource for the research community.
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Mouse
Rat
Zebrafish
D. melanogaster
C. elegans
S. cerevisiae
No ortholog
No ortholog
No ortholog
No ortholog
No ortholog
No ortholog
Descriptions from all associated GenBank mRNAs
AK301143 - Homo sapiens cDNA FLJ51336 complete cds, highly similar to Presenilin-2 (EC 3.4.23.-). AK292299 - Homo sapiens cDNA FLJ77434 complete cds, highly similar to Homo sapiens presenilin 2 (Alzheimer disease 4) (PSEN2), transcript variant 2, mRNA. L43964 - Homo sapiens (clone F-T03796) STM-2 mRNA, complete cds. L44577 - Homo sapiens S182 protein homologue (E5-1) mRNA, complete cds. BC006365 - Homo sapiens presenilin 2 (Alzheimer disease 4), mRNA (cDNA clone MGC:12801 IMAGE:4131408), complete cds. JD339275 - Sequence 320299 from Patent EP1572962. JD164571 - Sequence 145595 from Patent EP1572962. JD216067 - Sequence 197091 from Patent EP1572962. U34349 - Human seven trans-membrane domain protein (AD3LP/AD5) mRNA, complete cds. JD328258 - Sequence 309282 from Patent EP1572962. AF416718 - Homo sapiens presenilin 2 transcript variant 2 mRNA, partial cds. CU675365 - Synthetic construct Homo sapiens gateway clone IMAGE:100019452 5' read PSEN2 mRNA. AB527264 - Synthetic construct DNA, clone: pF1KB5356, Homo sapiens PSEN2 gene for presenilin 2, without stop codon, in Flexi system. BT006984 - Homo sapiens presenilin 2 (Alzheimer disease 4) mRNA, complete cds. DQ890646 - Synthetic construct clone IMAGE:100003276; FLH164751.01X; RZPDo839B07158D presenilin 2 (Alzheimer disease 4) (PSEN2) gene, encodes complete protein. DQ893826 - Synthetic construct Homo sapiens clone IMAGE:100008286; FLH164747.01L; RZPDo839B07157D presenilin 2 (Alzheimer disease 4) (PSEN2) gene, encodes complete protein. KJ897395 - Synthetic construct Homo sapiens clone ccsbBroadEn_06789 PSEN2 gene, encodes complete protein. KR710056 - Synthetic construct Homo sapiens clone CCSBHm_00009256 PSEN2 (PSEN2) mRNA, encodes complete protein. KR710057 - Synthetic construct Homo sapiens clone CCSBHm_00009262 PSEN2 (PSEN2) mRNA, encodes complete protein. KR710058 - Synthetic construct Homo sapiens clone CCSBHm_00009266 PSEN2 (PSEN2) mRNA, encodes complete protein. KR710059 - Synthetic construct Homo sapiens clone CCSBHm_00009270 PSEN2 (PSEN2) mRNA, encodes complete protein. JD223695 - Sequence 204719 from Patent EP1572962. JD082383 - Sequence 63407 from Patent EP1572962. JD233746 - Sequence 214770 from Patent EP1572962. JD057541 - Sequence 38565 from Patent EP1572962. JD317839 - Sequence 298863 from Patent EP1572962. JD317323 - Sequence 298347 from Patent EP1572962. JD370707 - Sequence 351731 from Patent EP1572962. JD210509 - Sequence 191533 from Patent EP1572962. JD121192 - Sequence 102216 from Patent EP1572962.
Biochemical and Signaling Pathways
KEGG - Kyoto Encyclopedia of Genes and Genomes hsa04330 - Notch signaling pathway hsa05010 - Alzheimer's disease
BioCarta from NCI Cancer Genome Anatomy Project h_HivnefPathway - HIV-I Nef: negative effector of Fas and TNF