LOCUS BC085604 1901 bp mRNA linear HUM 15-JUL-2006 DEFINITION Homo sapiens hemochromatosis type 2 (juvenile), mRNA (cDNA clone MGC:105051 IMAGE:6198223), complete cds. ACCESSION BC085604 VERSION BC085604.1 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 1901) 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. CONSRTM Mammalian Gene Collection Program Team 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 1901) CONSRTM NIH MGC Project TITLE Direct Submission JOURNAL Submitted (01-NOV-2004) National Institutes of Health, Mammalian Gene Collection (MGC), Bethesda, MD 20892-2590, USA REMARK NIH-MGC Project URL: http://mgc.nci.nih.gov COMMENT Contact: MGC help desk Email: cgapbs-r@mail.nih.gov Tissue Procurement: Dr. James R. Lupski cDNA Library Preparation: Life Technologies, Inc. cDNA Library Arrayed by: The I.M.A.G.E. Consortium (LLNL) DNA Sequencing by: Sequencing Group at the Stanford Human Genome Center, Stanford University School of Medicine, Stanford, CA 94305 Web site: http://www-shgc.stanford.edu Contact: (Dickson, Mark) mcd@paxil.stanford.edu Dickson, M., Schmutz, J., Grimwood, J., Rodriquez, A., and Myers, R. M. Clone distribution: MGC clone distribution information can be found through the I.M.A.G.E. Consortium/LLNL at: http://image.llnl.gov Series: IRAK Plate: 200 Row: b Column: 5 This clone was selected for full length sequencing because it passed the following selection criteria: matched mRNA gi: 44829052. FEATURES Location/Qualifiers source 1..1901 /db_xref="H-InvDB:HIT000266109" /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /clone="MGC:105051 IMAGE:6198223" /tissue_type="Peripheral Nervous System, sympathetic trunk" /clone_lib="Lupski_sympathetic_trunk" /lab_host="DH10B" /note="Vector: pCMV-SPORT6" gene 1..1901 /gene="HFE2" /gene_synonym="HFE2A" /gene_synonym="HJV" /gene_synonym="JH" /gene_synonym="MGC23953" /gene_synonym="RGMC" /db_xref="GeneID:148738" /db_xref="HGNC:HGNC:4887" /db_xref="MIM:608374" CDS 332..1273 /gene="HFE2" /gene_synonym="HFE2A" /gene_synonym="HJV" /gene_synonym="JH" /gene_synonym="MGC23953" /gene_synonym="RGMC" /codon_start=1 /product="hemochromatosis type 2 (juvenile)" /protein_id="AAH85604.1" /db_xref="GeneID:148738" /db_xref="HGNC:HGNC:4887" /db_xref="MIM:608374" /translation="MIQHNCSRQGPTAPPPPRGPALPGAGSGLPAPDPCDYEGRFSRL HGRPPGFLHCASFGDPHVRSFHHHFHTCRVQGAWPLLDNDFLFVQATSSPMALGANAT ATRKLTIIFKNMQECIDQKVYQAEVDNLPVAFEDGSINGGDRPGGSSLSIQTANPGNH VEIQAAYIGTTIIIRQTAGQLSFSIKVAEDVAMAFSAEQDLQLCVGGCPPSQRLSRSE RNRRGAITIDTARRLCKEGLPVEDAYFHSCVFDVLISGDPNFTVAAQAALEDARAFLP DLEKLHLFPSDAGVPLSSATLLAPLLSGLFVLWLCIQ" BASE COUNT 462 a 485 c 484 g 470 t ORIGIN 1 ggaggacccc ctggctggag ctgacccaca gagtagggaa tcatggctgg agaattggat 61 agcagagtaa tgtttgacct ctggaaacac tcattctcaa tgcaagatcc tccgctgcaa 121 tgctgagtac gtatcgtcca ctctgagcct tagaggtggg ggttcatcag gagcacttcg 181 aggaggagga ggaggaggcc ggggtggagg ggtgggctct ggcggcctct gtcgagccct 241 ccgctcctat gcgctctgca ctcggcgcac cgcccgcacc tgccgcgggg acctcgcctt 301 ccattcggcg gtacatggca tcgaagacct gatgatccag cacaactgct cccgccaggg 361 ccctacagcc cctcccccgc cccggggccc cgcccttcca ggcgcgggct ccggcctccc 421 tgccccggac ccttgtgact atgaaggccg gttttcccgg ctgcatggtc gtcccccggg 481 gttcttgcat tgcgcttcct tcggggaccc ccatgtgcgc agcttccacc atcactttca 541 cacatgccgt gtccaaggag cttggcctct actggataat gacttcctct ttgtccaagc 601 caccagctcc cccatggcgt tgggggccaa cgctaccgcc acccggaagc tcaccatcat 661 atttaagaac atgcaggaat gcattgatca gaaggtgtat caggctgagg tggataatct 721 tcctgtagcc tttgaagatg gttctatcaa tggaggtgac cgacctgggg gatccagttt 781 gtcgattcaa actgctaacc ctgggaacca tgtggagatc caagctgcct acattggcac 841 aactataatc attcggcaga cagctgggca gctctccttc tccatcaagg tagcagagga 901 tgtggccatg gccttctcag ctgaacagga cctgcagctc tgtgttgggg ggtgccctcc 961 aagtcagcga ctctctcgat cagagcgcaa tcgtcgggga gctataacca ttgatactgc 1021 cagacggctg tgcaaggaag ggcttccagt ggaagatgct tacttccatt cctgtgtctt 1081 tgatgtttta atttctggtg atcccaactt taccgtggca gctcaggcag cactggagga 1141 tgcccgagcc ttcctgccag acttagagaa gctgcatctc ttcccctcag atgctggggt 1201 tcctctttcc tcagcaaccc tcttagctcc actcctttct gggctctttg ttctgtggct 1261 ttgcattcag taaggggacc atcagtccca ttactagttt ggaaatgatt tggagataca 1321 gattggcata gaagaatgta aagaatcatt aaaggaagca gggcctagga gacacgtgaa 1381 acaatgacat tatccagagt cagatgaggc tgcagtccag ggttgaaatt atcacagaat 1441 aaggattctg ggcaaggtta ctgcattccg gatctctgtg gggctcttca ccaatttttc 1501 cagcctcatt tatagtaaac aaattgttct aatccattta ctgcagattt cacccttata 1561 agtttagagg tcatgaaggt tttaatgatc agtaaagatt taagggttga gatttttaag 1621 aggcaagagc tgaaagcaga agacatgatc attagccata agaaactcaa aggaggaaga 1681 cataattagg gaaagaagtc tatttgatga atatgtgtgt gtaaggtatg ttctgctttc 1741 ttgattcaaa aatgaagcag gcattgtcta gctcttaggt gaagggagtc tctgcttttg 1801 aagaatggca caggtaggac agaagtatca tccctacccc ctaactaatc tgttattaaa 1861 gctacaaatt cttcacacca tcaaaaaaaa aaaaaaaaaa a //