LOCUS       BC006365                2508 bp    mRNA    linear   HUM 09-DEC-2003
DEFINITION  Homo sapiens presenilin 2 (Alzheimer disease 4), mRNA (cDNA clone
            MGC:12801 IMAGE:4131408), complete cds.
ACCESSION   BC006365
VERSION     BC006365.2
KEYWORDS    MGC.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2508)
  AUTHORS   Strausberg,R.L., Feingold,E.A., Grouse,L.H., Derge,J.G.,
            Klausner,R.D., Collins,F.S., Wagner,L., Shenmen,C.M., Schuler,G.D.,
            Altschul,S.F., Zeeberg,B., Buetow,K.H., Schaefer,C.F., Bhat,N.K.,
            Hopkins,R.F., Jordan,H., Moore,T., Max,S.I., Wang,J., Hsieh,F.,
            Diatchenko,L., Marusina,K., Farmer,A.A., Rubin,G.M., Hong,L.,
            Stapleton,M., Soares,M.B., Bonaldo,M.F., Casavant,T.L.,
            Scheetz,T.E., Brownstein,M.J., Usdin,T.B., Toshiyuki,S.,
            Carninci,P., Prange,C., Raha,S.S., Loquellano,N.A., Peters,G.J.,
            Abramson,R.D., Mullahy,S.J., Bosak,S.A., McEwan,P.J.,
            McKernan,K.J., Malek,J.A., Gunaratne,P.H., Richards,S.,
            Worley,K.C., Hale,S., Garcia,A.M., Gay,L.J., Hulyk,S.W.,
            Villalon,D.K., Muzny,D.M., Sodergren,E.J., Lu,X., Gibbs,R.A.,
            Fahey,J., Helton,E., Ketteman,M., Madan,A., Rodrigues,S.,
            Sanchez,A., Whiting,M., Madan,A., Young,A.C., Shevchenko,Y.,
            Bouffard,G.G., Blakesley,R.W., Touchman,J.W., Green,E.D.,
            Dickson,M.C., Rodriguez,A.C., Grimwood,J., Schmutz,J., Myers,R.M.,
            Butterfield,Y.S., Krzywinski,M.I., Skalska,U., Smailus,D.E.,
            Schnerch,A., Schein,J.E., Jones,S.J. and Marra,M.A.
  TITLE     Generation and initial analysis of more than 15,000 full-length
            human and mouse cDNA sequences
  JOURNAL   Proc. Natl. Acad. Sci. U.S.A. 99 (26), 16899-16903 (2002)
   PUBMED   12477932
REFERENCE   2  (bases 1 to 2508)
  AUTHORS   Strausberg,R.
  TITLE     Direct Submission
  JOURNAL   Submitted (09-APR-2001) National Institutes of Health, Mammalian
            Gene Collection (MGC), Cancer Genomics Office, National Cancer
            Institute, 31 Center Drive, Room 11A03, Bethesda, MD 20892-2590,
            USA
  REMARK    NIH-MGC Project URL: http://mgc.nci.nih.gov
COMMENT     On Dec 9, 2003 this sequence version replaced gi:13623516.
            Contact: MGC help desk
            Email: cgapbs-r@mail.nih.gov
            Tissue Procurement: ATCC
            cDNA Library Preparation: Rubin Laboratory
            cDNA Library Arrayed by: The I.M.A.G.E. Consortium (LLNL)
            DNA Sequencing by: National Institutes of Health Intramural
            Sequencing Center (NISC),
            Gaithersburg, Maryland;
            Web site: http://www.nisc.nih.gov/
            Contact: nisc_mgc@nhgri.nih.gov
            Akhter,N., Ayele,K., Beckstrom-Sternberg,S.M., Benjamin,B.,
            Blakesley,R.W., Bouffard,G.G., Breen,K., Brinkley,C., Brooks,S.,
            Dietrich,N.L., Granite,S., Guan,X., Gupta,J., Haghighi,P.,
            Hansen,N., Ho,S.-L., Karlins,E., Kwong,P., Laric,P., Legaspi,R.,
            Maduro,Q.L., Masiello,C., Maskeri,B., Mastrian,S.D.,McCloskey,J.C.,
            McDowell,J., Pearson,R., Stantripop,S., Thomas,P.J., Touchman,J.W.,
            Tsurgeon,C., Vogt,J.L., Walker,M.A., Wetherby,K.D., Wiggins,L.,
            Young,A., Zhang,L.-H. and Green,E.D.
            
            Clone distribution: MGC clone distribution information can be found
            through the I.M.A.G.E. Consortium/LLNL at: http://image.llnl.gov
            Series: IRAL Plate: 17 Row: i Column: 14
            This clone was selected for full length sequencing because it
            passed the following selection criteria: matched mRNA gi: 4506164.
FEATURES             Location/Qualifiers
     source          1..2508
                     /db_xref="H-InvDB:HIT000032787"
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /clone="MGC:12801 IMAGE:4131408"
                     /tissue_type="Muscle, rhabdomyosarcoma"
                     /clone_lib="NIH_MGC_17"
                     /lab_host="DH10B-R"
                     /note="Vector: pOTB7"
     gene            1..2508
                     /gene="PSEN2"
                     /gene_synonym="AD3L"
                     /gene_synonym="AD4"
                     /gene_synonym="PS2"
                     /gene_synonym="STM2"
                     /db_xref="GeneID:5664"
                     /db_xref="MIM:600759"
     CDS             622..1968
                     /gene="PSEN2"
                     /gene_synonym="AD3L"
                     /gene_synonym="AD4"
                     /gene_synonym="PS2"
                     /gene_synonym="STM2"
                     /codon_start=1
                     /product="PSEN2 protein"
                     /protein_id="AAH06365.1"
                     /db_xref="GI:13623517"
                     /db_xref="GeneID:5664"
                     /db_xref="MIM:600759"
                     /translation="MLTFMASDSEEEVCDERTSLMSAESPTPRSCQEGRQGPEDGENT
                     AQWRSQENEEDGEEDPDRYVCSGVPGRPPGLEEELTLKYGAKHVIMLFVPVTLCMIVV
                     VATIKSVRFYTEKNGQLIYTPFTEDTPSVGQRLLNSVLNTLIMISVIVVMTIFLVVLY
                     KYRCYKFIHGWLIMSSLMLLFLFTYIYLGEVLKTYNVAMDYPTLLLTVWNFGAVGMVC
                     IHWKGPLVLQQAYLIMISALMALVFIKYLPEWSAWVILGAISVYDLVAVLCPKGPLRM
                     LVETAQERNEPIFPALIYSSAMVWTVGMAKLDPSSQGALQLPYDPEMEEDSYDSFGEP
                     SYPEVFEPPLTGYPGEELEEEEERGVKLGLGDFIFYSVLVGKAAATGSGDWNTTLACF
                     VAILIGLCLTLLLLAVFKKALPALPISITFGLIFYFSTDNLVRPFMDTLASHQLYI"
     misc_feature    847..1938
                     /gene="PSEN2"
                     /gene_synonym="AD3L"
                     /gene_synonym="AD4"
                     /gene_synonym="PS2"
                     /gene_synonym="STM2"
                     /note="Presenilin; Region: Presenilin. Mutations in
                     presenilin-1 are a major cause of early onset Alzheimer's
                     disease. It has been found that presenilin-1 binds to
                     beta-catenin in-vivo. This family also contains SPE
                     proteins from C.elegans"
                     /db_xref="CDD:pfam01080"
BASE COUNT          562 a          659 c          705 g          582 t
ORIGIN      
        1 ccagcagtga ggagacagcc agaagcaagc ttttggagct gaaggaacct gagacagaag
       61 ctagtccccc ctctgaattt tactgatgaa gaaactgagg ccacagagct aaagtgactt
      121 ttcccaaggt cgcccagcga ggacgtggga cttctcagac gtcaggagag tgatgtgagg
      181 gagctgtgtg accatagaaa gtgacgtgtt aaaaaccagc gctgccctct ttgaaagcca
      241 gggagcatca ttcatttagc ctgctgagaa gaagaaacca agtgtccggg attcagacct
      301 ctctgcggcc ccaagtgttc gtgggtgtga agctcagccc tgagggtctc tggacagcga
      361 tcactcagcc tctggacagc gatcactcag cctctggaca gacagcgatc actcagcctc
      421 tggacagcga tcactcagcc tctggacagc gatcactcag cctctggaca gcgatcactc
      481 agcctctgga cagcgataac tcagcctctg tccccgtctg agatgttggc agggactgtc
      541 agatttgcca ggcattgttt gaagttcttc ccagcccaga aacctgcatg tgtagatttt
      601 ggtgcttcca gaggcagggc tatgctcaca ttcatggcct ctgacagcga ggaagaagtg
      661 tgtgatgagc ggacgtccct aatgtcggcc gagagcccca cgccgcgctc ctgccaggag
      721 ggcaggcagg gcccagagga tggagagaat actgcccagt ggagaagcca ggagaacgag
      781 gaggacggtg aggaggaccc tgaccgctat gtctgtagtg gggttcccgg gcggccgcca
      841 ggcctggagg aagagctgac cctcaaatac ggagcgaagc atgtgatcat gctgtttgtg
      901 cctgtcactc tgtgcatgat cgtggtggta gccaccatca agtctgtgcg cttctacaca
      961 gagaagaatg gacagctcat ctacacgcca ttcactgagg acacaccctc ggtgggccag
     1021 cgcctcctca actccgtgct gaacaccctc atcatgatca gcgtcatcgt ggttatgacc
     1081 atcttcttgg tggtgctcta caagtaccgc tgctacaagt tcatccatgg ctggttgatc
     1141 atgtcttcac tgatgctgct gttcctcttc acctatatct accttgggga agtgctcaag
     1201 acctacaatg tggccatgga ctaccccacc ctcttgctga ctgtctggaa cttcggggca
     1261 gtgggcatgg tgtgcatcca ctggaagggc cctctggtgc tgcagcaggc ctacctcatc
     1321 atgatcagtg cgctcatggc cctagtgttc atcaagtacc tcccagagtg gtccgcgtgg
     1381 gtcatcctgg gcgccatctc tgtgtatgat ctcgtggctg tgctgtgtcc caaagggcct
     1441 ctgagaatgc tggtagaaac tgcccaggag agaaatgagc ccatattccc tgccctgata
     1501 tactcatctg ccatggtgtg gacggttggc atggcgaagc tggacccctc ctctcagggt
     1561 gccctccagc tcccctacga cccggagatg gaagaagact cctatgacag ttttggggag
     1621 ccttcatacc ccgaagtctt tgagcctccc ttgactggct acccagggga ggagctggag
     1681 gaagaggagg aaaggggcgt gaagcttggc ctcggggact tcatcttcta cagtgtgctg
     1741 gtgggcaagg cggctgccac gggcagcggg gactggaata ccacgctggc ctgcttcgtg
     1801 gccatcctca ttggcttgtg tctgaccctc ctgctgcttg ctgtgttcaa gaaggcgctg
     1861 cccgccctcc ccatctccat cacgttcggg ctcatctttt acttctccac ggacaacctg
     1921 gtgcggccgt tcatggacac cctggcctcc catcagctct acatctgagg gacatggtgt
     1981 gccacaggct gcaagctgca gggaattttc attggatgca gttgtatagt tttacactct
     2041 agtgccatat atttttaaga cttttctttc cttaaaaaat aaagtacgtg tttacttggt
     2101 gaggaggagg cagaaccagc tctttggtgc cagctgtttc atcaccagac tttggctccc
     2161 gctttgggga gcgcctcgct tcacggacag gaagcacagc aggtttatcc agatgaactg
     2221 agaaggtcag attagggtgg ggagaagagc atccggcatg agggctgaga tgcgcaaaga
     2281 gtgtgctcgg gagtggcccc tggcacctgg gtgctctggc tggagaggaa aagccagttc
     2341 cctacgagga gtgttcccaa tgctttgtcc atgatgtcct tgttatttta ttgcctttag
     2401 aaactgagtc ctgttcttgt tacggcagtc acactgctgg gaagtggctt aatagtaata
     2461 tcaataaata gatgagtcct gttagaaaaa aaaaaaaaaa aaaaaaaa
//