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 BC006365.1.
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="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
//