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Cancer Genome Characterization Initiative

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Gene Info

Gene Information For:Hs. PSEN2, Presenilin 2 (Alzheimer disease 4)
Sequence ID:NM_000447
NM_012486
RefSeqGene ID:NG_007381
Entrez Gene ID:5664
Ensembl ID:ENSG00000143801

Database Links

UniGeneEntrez GeneOMIMEnsembl GeneHPRDVegaDTPSNPSNP: GeneViewSNP: VarViewAssembliesRNAi

Gene Expression Data


Associated Diseases (from OMIM)

DiseaseOther Genes
ALZHEIMER DISEASE-4 
CARDIOMYOPATHY, DILATED, 1V 

Cytogenetic Location (from UniGene)

Cytogenetic Location:1q31-q42Mitelman Breakpoint Data

Chromosomal Position (from UCSC)

Chromosomal Position:1: 227063203 - 227081807

 Exon Info From UCSC:
NM_000447
NM_012486

Full-Length MGC Clones for This Gene

IMAGE IdStatusAccession GenBank Def Line
4131408Full LengthBC006365presenilin 2 (Alzheimer disease 4)

Protein Similarities Based on Shared Motif Content

Find gene products sharing protein motifs with:  NP_036618  NP_000438  

Protein Infomation

RefSeq
mRNAProteinSwissProtPfam
NM_000447 NP_000438 P49810 Presenilin
NM_012486 NP_036618   Presenilin

Related Sequences

 
mRNAGenPeptSwissProt
L43964 AAB59557 P49810
L44577 AAC42012 P49810
U34349 AAC50290 P49810
BC006365 AAH06365 P49810
AF416718 AAL16812 P49810
BT006984 AAP35630 P49810
DQ890646 ABM81572  
DQ893826 ABM84752  
AK292299 BAF84988 P49810
AK301143 BAG62735 B4DVM3

Homologs (from HomoloGene)
Note: Both orthologs and paralogs are included.
Organism Symbol Protein Homolog Similarity
(% aa unchanged)
Organism Symbol Entrez
Gene
Gene Info Protein
H.sapiens PSEN2 NP_036618 M.musculus Psen2 19165 Gene Info NP_001122077 96
R.norvegicus Psen2 81751   NP_112349 95

Gene Ontology
Gene classification by the European Bioinformatics Institute, as recorded in GOA (GO Annotation@EBI)

NCI-Nature Pathway Interaction Database

BioCarta Pathways
Pathway information courtesy of BioCarta