LOCUS       NM_011183               2026 bp    mRNA    linear   ROD 26-MAR-2023
DEFINITION  Mus musculus presenilin 2 (Psen2), transcript variant 1, mRNA.
ACCESSION   NM_011183
VERSION     NM_011183.3
KEYWORDS    RefSeq.
SOURCE      Mus musculus (house mouse)
  ORGANISM  Mus musculus
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha;
            Muroidea; Muridae; Murinae; Mus; Mus.
REFERENCE   1  (bases 1 to 2026)
  AUTHORS   Knox KM, Beckman M, Smith CL, Jayadev S and Barker-Haliski M.
  TITLE     Chronic seizures induce sex-specific cognitive deficits with loss
            of presenilin 2 function
  JOURNAL   Exp Neurol 361, 114321 (2023)
   PUBMED   36634751
  REMARK    GeneRIF: Chronic seizures induce sex-specific cognitive deficits
            with loss of presenilin 2 function.
REFERENCE   2  (bases 1 to 2026)
  AUTHORS   Ma L, Liao L, Zhou N, Tao H, Zhou H, Tan Y, Chen W, Cao F and Chen
            X.
  TITLE     Transmembrane BAX inhibitor motif containing 6 suppresses
            presenilin-2 to preserve mitochondrial integrity after myocardial
            ischemia-reperfusion injury
  JOURNAL   Int J Biol Sci 19 (4), 1228-1240 (2023)
   PUBMED   36923943
  REMARK    GeneRIF: Transmembrane BAX inhibitor motif containing 6 suppresses
            presenilin-2 to preserve mitochondrial integrity after myocardial
            ischemia-reperfusion injury.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2026)
  AUTHORS   Lv J, Duan Y, Wang X, Wu H, Chen J, Zhang W, Ke S, Wang F, Ni H and
            Cao X.
  TITLE     Alpha7 nicotinic acetylcholine receptor agonist PHA-543613 improves
            memory deficits in presenilin 1 and presenilin 2 conditional double
            knockout mice
  JOURNAL   Exp Neurol 359, 114271 (2023)
   PUBMED   36370840
REFERENCE   4  (bases 1 to 2026)
  AUTHORS   Nam H, Lee Y, Kim B, Lee JW, Hwang S, An HK, Chung KM, Park Y, Hong
            J, Kim K, Kim EK, Choe HK and Yu SW.
  TITLE     Presenilin 2 N141I mutation induces hyperactive immune response
            through the epigenetic repression of REV-ERBalpha
  JOURNAL   Nat Commun 13 (1), 1972 (2022)
   PUBMED   35418126
  REMARK    GeneRIF: Presenilin 2 N141I mutation induces hyperactive immune
            response through the epigenetic repression of REV-ERBalpha.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2026)
  AUTHORS   Zhang D, Zhang C, Ho A, Kirkwood A, Sudhof TC and Shen J.
  TITLE     Inactivation of presenilins causes pre-synaptic impairment prior to
            post-synaptic dysfunction
  JOURNAL   J Neurochem 115 (5), 1215-1221 (2010)
   PUBMED   20854432
REFERENCE   6  (bases 1 to 2026)
  AUTHORS   Ounallah-Saad H, Beeri R, Goshen I, Yirmiya R, Renbaum P and
            Levy-Lahad E.
  TITLE     Transcriptional regulation of the murine Presenilin-2 gene reveals
            similarities and differences to its human orthologue
  JOURNAL   Gene 446 (2), 81-89 (2009)
   PUBMED   19573580
  REMARK    GeneRIF: Egr-1 over-expression and down-regulation, as well as
            in-vivo examination of Egr-1 and Psen2 expression during fear
            conditioning, showed that Egr-1 does not regulate the Psen2
            promoter.
REFERENCE   7  (bases 1 to 2026)
  AUTHORS   Lee MK, Slunt HH, Martin LJ, Thinakaran G, Kim G, Gandy SE, Seeger
            M, Koo E, Price DL and Sisodia SS.
  TITLE     Expression of presenilin 1 and 2 (PS1 and PS2) in human and murine
            tissues
  JOURNAL   J Neurosci 16 (23), 7513-7525 (1996)
   PUBMED   8922407
REFERENCE   8  (bases 1 to 2026)
  AUTHORS   Thinakaran G, Borchelt DR, Lee MK, Slunt HH, Spitzer L, Kim G,
            Ratovitsky T, Davenport F, Nordstedt C, Seeger M, Hardy J, Levey
            AI, Gandy SE, Jenkins NA, Copeland NG, Price DL and Sisodia SS.
  TITLE     Endoproteolysis of presenilin 1 and accumulation of processed
            derivatives in vivo
  JOURNAL   Neuron 17 (1), 181-190 (1996)
   PUBMED   8755489
REFERENCE   9  (bases 1 to 2026)
  AUTHORS   Vito P, Lacana E and D'Adamio L.
  TITLE     Interfering with apoptosis: Ca(2+)-binding protein ALG-2 and
            Alzheimer's disease gene ALG-3
  JOURNAL   Science 271 (5248), 521-525 (1996)
   PUBMED   8560270
REFERENCE   10 (bases 1 to 2026)
  AUTHORS   Pericak-Vance MA and Haines JL.
  TITLE     Genetic susceptibility to Alzheimer disease
  JOURNAL   Trends Genet 11 (12), 504-508 (1995)
   PUBMED   8533168
  REMARK    Review article
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC132436.3, BM935552.1 and
            AI118332.1.
            
            [WARNING] On May 2, 2023 this sequence was replaced by NM_011183.4.
            
            On Apr 5, 2011 this sequence version replaced NM_011183.2.
            
            Summary: This gene encodes a member of the presenilin family.
            Presenilins are catalytic components of the multi-subunit
            gamma-secretase complex, which mediates critical cellular processes
            through cleavage of type I transmembrane proteins including Notch
            receptors and the amyloid precursor protein. The encoded protein
            contains eight transmembrane domains and is localized to the
            endoplasmic reticulum, where it may play a role in calcium
            homeostasis. Following assembly of the gamma-secretase complex, the
            encoded protein is cleaved into N- and C-terminal fragments and the
            activated complex is released from the endoplasmic reticulum.
            Inactivation of this gene results in impaired synaptic function in
            a mouse model for Alzheimer's disease. Alternatively spliced
            transcript variants have been observed for this gene. [provided by
            RefSeq, Apr 2011].
            
            Transcript Variant: This variant (1) represents the longer
            transcript. Both variants 1 and 2 encode the same protein.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: U57324.1, SRR5189682.82174.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMN00849374,
                                           SAMN00849375 [ECO:0006172]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-87                AC132436.3         201585-201671       c
            88-231              AC132436.3         201335-201478       c
            232-446             AC132436.3         196452-196666       c
            447-588             AC132436.3         194594-194735       c
            589-656             AC132436.3         191632-191699       c
            657-877             AC132436.3         190710-190930       c
            878-886             AC132436.3         189422-189430       c
            887-1523            BM935552.1         1-637
            1524-2026           AI118332.1         1-503               c
FEATURES             Location/Qualifiers
     source          1..2026
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="1"
                     /map="1 84.19 cM"
     gene            1..2026
                     /gene="Psen2"
                     /gene_synonym="Ad4h; ALG-3; Alg3; PS-2; PS2; Psnl2; STM2"
                     /note="presenilin 2"
                     /db_xref="GeneID:19165"
                     /db_xref="MGI:MGI:109284"
     exon            1..87
                     /gene="Psen2"
                     /gene_synonym="Ad4h; ALG-3; Alg3; PS-2; PS2; Psnl2; STM2"
                     /inference="alignment:Splign:2.1.0"
     exon            88..231
                     /gene="Psen2"
                     /gene_synonym="Ad4h; ALG-3; Alg3; PS-2; PS2; Psnl2; STM2"
                     /inference="alignment:Splign:2.1.0"
     CDS             91..1437
                     /gene="Psen2"
                     /gene_synonym="Ad4h; ALG-3; Alg3; PS-2; PS2; Psnl2; STM2"
                     /codon_start=1
                     /product="presenilin-2"
                     /protein_id="NP_035313.2"
                     /db_xref="CCDS:CCDS15567.1"
                     /db_xref="GeneID:19165"
                     /db_xref="MGI:MGI:109284"
                     /translation="MLAFMASDSEEEVCDERTSLMSAESPTSRSCQEGRPGPEDGEST
                     AQWRTQESEEDCEEDPDRYACSGAPGRPSGLEEELTLKYGAKHVIMLFVPVTLCMIVV
                     VATIKSVRFYTEKNGQLIYTPFTEDTPSVGQRLLNSVLNTLIMISVIVVMTIFLVVLY
                     KYRCYKFIHGWLIMSSLMLLFLFTYIYLGEVLKTYNVAMDYPTLFLAVWNFGAVGMVC
                     IHWKGPLVLQQAYLIVISALMALVFIKYLPEWSAWVILGAISVYDLVAVLCPKGPLRM
                     LVETAQERNEPIFPALIYSSAMVWTVGMAKLDPSSQGALQLPYDPEMEEDSYDSFGEP
                     SYPEAFEAPLPGYPGEELEEEEERGVKLGLGDFIFYSVLVGKAAATGNGDWNTTLACF
                     IAILIGLCLTLLLLAVFKKALPALPISITFGLIFYFSTDNLVRPFMDTLASHQLYI"
     exon            232..446
                     /gene="Psen2"
                     /gene_synonym="Ad4h; ALG-3; Alg3; PS-2; PS2; Psnl2; STM2"
                     /inference="alignment:Splign:2.1.0"
     exon            447..588
                     /gene="Psen2"
                     /gene_synonym="Ad4h; ALG-3; Alg3; PS-2; PS2; Psnl2; STM2"
                     /inference="alignment:Splign:2.1.0"
     exon            589..656
                     /gene="Psen2"
                     /gene_synonym="Ad4h; ALG-3; Alg3; PS-2; PS2; Psnl2; STM2"
                     /inference="alignment:Splign:2.1.0"
     exon            657..877
                     /gene="Psen2"
                     /gene_synonym="Ad4h; ALG-3; Alg3; PS-2; PS2; Psnl2; STM2"
                     /inference="alignment:Splign:2.1.0"
     exon            878..976
                     /gene="Psen2"
                     /gene_synonym="Ad4h; ALG-3; Alg3; PS-2; PS2; Psnl2; STM2"
                     /inference="alignment:Splign:2.1.0"
     exon            977..1060
                     /gene="Psen2"
                     /gene_synonym="Ad4h; ALG-3; Alg3; PS-2; PS2; Psnl2; STM2"
                     /inference="alignment:Splign:2.1.0"
     exon            1061..1162
                     /gene="Psen2"
                     /gene_synonym="Ad4h; ALG-3; Alg3; PS-2; PS2; Psnl2; STM2"
                     /inference="alignment:Splign:2.1.0"
     exon            1163..1281
                     /gene="Psen2"
                     /gene_synonym="Ad4h; ALG-3; Alg3; PS-2; PS2; Psnl2; STM2"
                     /inference="alignment:Splign:2.1.0"
     exon            1282..2006
                     /gene="Psen2"
                     /gene_synonym="Ad4h; ALG-3; Alg3; PS-2; PS2; Psnl2; STM2"
                     /inference="alignment:Splign:2.1.0"
ORIGIN      
        1 ggagttccac tcaagccagt cccaagcaag gctgccgtgg ccttgtgctg gcttctggaa
       61 ctccggtttt gagcagttgt ttgacttacc atgctcgcat tcatggcctc tgacagcgag
      121 gaagaggtgt gtgatgagcg gacgtccttg atgtcagccg agagccccac atctcgctcc
      181 tgccaggaag gcaggccagg cccggaggat ggagagagca ctgcccagtg gaggactcag
      241 gagagcgaag aagactgtga agaggacccg gaccgctacg catgcagtgg ggctcctggg
      301 cgaccgtcgg gcctggagga agagctgacc ctcaagtatg gggcgaagca tgtgatcatg
      361 ctattcgtgc ctgtcacgct gtgtatgatc gtggtggtgg ccactatcaa gtctgtgcgt
      421 ttctacactg agaagaacgg gcagctcatc tacacgccct tcacggagga cacgccctcg
      481 gtgggccagc ggctcctcaa ctccgtgctt aacaccctca tcatgatcag cgtcatcgta
      541 gtcatgacca tcttcctcgt ggtactctac aagtatcgat gctacaagtt catccatggc
      601 tggctgatca tgtcctccct gatgctcctc ttcttgttca cctacatcta cctcggggaa
      661 gtgctcaaga cctacaatgt ggccatggac tatcccacac tcttcctggc tgtctggaac
      721 ttcggggcag tgggcatggt gtgcatccac tggaaggggc ctctggtgct gcagcaggct
      781 taccttattg tgatcagcgc actcatggcc ctggtgttca tcaagtacct gccggagtgg
      841 tctgcctggg tcatcttggg tgccatctct gtgtacgatc tcgtggccgt gctgtgcccc
      901 aaagggccac tgaggatgct ggtggaaact gcccaggaga gaaatgagcc catatttcct
      961 gccctgatat actcatctgc catggtgtgg acggtgggca tggcaaagct ggacccctcc
     1021 tctcaaggag cgctgcagct cccctatgac ccagagatgg aagaagactc ctacgacagt
     1081 tttggagaac cctcataccc tgaagccttc gaagcccccc tgcctggcta cccaggggag
     1141 gagctggagg aggaggagga aaggggcgtg aagctcggcc tgggagactt catcttctac
     1201 agcgtcctgg tgggcaaggc tgcagccact ggcaacggag actggaacac tacgctggcc
     1261 tgttttatcg ccatcctcat tggcttgtgt ctcaccctcc tgctgcttgc tgtgttcaag
     1321 aaggctctgc ccgccctccc catctccatc acctttggac tcatcttcta cttctccaca
     1381 gacaacctgg tgcgcccttt catggacact ctggcctccc accagctcta catctgacag
     1441 gagccaggcg gaggctccga gagctatggg ggcgtcactg gatgcaggtg tatagtttta
     1501 cactctagtg ccatatattt tttaaagaaa ttttctttcc ttacaaaaga agaagaagaa
     1561 aaaaaaaaaa agaataaaaa cgtgtcgtgt ttacttcgtg atgaggaagc agaagccacc
     1621 cttcggtgct acctgtcttg tcaccagact gcagcttgcc tgtcggagca tctgtggcgc
     1681 cggtgggatg cttggatgct cagcaagcaa gcgtctcttc agggatgagg tcgtgtgtgg
     1741 agcaggttgg ggaggatgca ggcccctgtc cacgtctgta agtctccagg gatgatcaga
     1801 aggaacaggt gcattgtggg aaccaggagg cgccatcacc ctgaccagag gtggaaagcc
     1861 cgtgtgcagt catgaatgtc cccagtgctg tgtttgtgat gtctgttact ttagaacctt
     1921 agaagccaag tcctgttctt atttctgcag tgactgctgg gaagtggctt aataatgata
     1981 ccaataaaca gatgctcctg ctggaaaaaa aaaaaaaaaa aaaaaa
//
