LOCUS BC017926 1446 bp mRNA linear HUM 15-JUL-2006
DEFINITION Homo sapiens hemochromatosis type 2 (juvenile), mRNA (cDNA clone
IMAGE:4292862), complete cds.
ACCESSION BC017926
VERSION BC017926.1
KEYWORDS .
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 1446)
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 1446)
CONSRTM NIH MGC Project
TITLE Direct Submission
JOURNAL Submitted (03-DEC-2001) 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: CLONTECH
cDNA Library Preparation: CLONTECH Laboratories, 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: IRAL Plate: 36 Row: b Column: 10
This clone was selected for full length sequencing because it
passed the following selection criteria: matched mRNA gi: 44829052
This clone has the following problem: The cds is short compared to
the longest cds in the locus.
FEATURES Location/Qualifiers
source 1..1446
/db_xref="H-InvDB:HIT000038199"
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/clone="IMAGE:4292862"
/tissue_type="Skeletal Muscle"
/clone_lib="NIH_MGC_81"
/lab_host="DH10B"
/note="Vector: pDNR-LIB"
gene 1..1446
/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 208..810
/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="AAH17926.1"
/db_xref="GeneID:148738"
/db_xref="HGNC:HGNC:4887"
/db_xref="MIM:608374"
/translation="MQECIDQKVYQAEVDNLPVAFEDGSINGGDRPGGSSLSIQTANP
GNHVEIQAAYIGTTIIIRQTAGQLSFSIKVAEDVAMAFSAEQDLQLCVGGCPPSQRLS
RSERNRRGAITIDTARRLCKEGLPVEDAYFHSCVFDVLISGDPNFTVAAQAALEDARA
FLPDLEKLHLFPSDAGVPLSSATLLAPLLSGLFVLWLCIQ"
BASE COUNT 407 a 310 c 350 g 379 t
ORIGIN
1 cttctctggt tccctgacct cagtgagaca gcagccggcc tggggacctg ggggagacac
61 ggaggacccc ctggctggag ctgacccaca gagtagggaa tcatggctgg agaattggat
121 agcagagtaa tgtttgacct ctggaaacac tcattctcaa tgcaagatcc tccgctgcaa
181 tgctgactca ccatcatatt taagaacatg caggaatgca ttgatcagaa ggtgtatcag
241 gctgaggtgg ataatcttcc tgtagccttt gaagatggtt ctatcaatgg aggtgaccga
301 cctgggggat ccagtttgtc gattcaaact gctaaccctg ggaaccatgt ggagatccaa
361 gctgcctaca ttggcacaac tataatcatt cggcagacag ctgggcagct ctccttctcc
421 atcaaggtag cagaggatgt ggccatggcc ttctcagctg aacaggacct gcagctctgt
481 gttggggggt gccctccaag tcagcgactc tctcgatcag agcgcaatcg tcggggagct
541 ataaccattg atactgccag acggctgtgc aaggaagggc ttccagtgga agatgcttac
601 ttccattcct gtgtctttga tgttttaatt tctggtgatc ccaactttac cgtggcagct
661 caggcagcac tggaggatgc ccgagccttc ctgccagact tagagaagct gcatctcttc
721 ccctcagatg ctggggttcc tctttcctca gcaaccctct tagctccact cctttctggg
781 ctctttgttc tgtggctttg cattcagtaa ggggaccatc agtcccatta ctagtttgga
841 aatgatttgg agatacagat tggcatagaa gaatgtaaag aatcattaaa ggaagcaggg
901 cctaggagac acgtgaaaca atgacattat ccagagtcag atgaggctgc agtccagggt
961 tgaaattatc acagaataag gattctgggc aaggttactg cattccggat ctctgtgggg
1021 ctcttcacca atttttccag cctcatttat agtaaacaaa ttgttctaat ccatttactg
1081 cagatttcac ccttataagt ttagaggtca tgaaggtttt aatgatcagt aaagatttaa
1141 gggttgagat ttttaagagg caagagctga aagcagaaga catgatcatt agccataaga
1201 aactcaaagg aggaagacat aattagggaa agaagtctat ttgatgaata tgtgtgtgta
1261 aggtatgttc tgctttcttg attcaaaaat gaagcaggca ttgtctagct cttaggtgaa
1321 gggagtctct gcttttgaag aatggcacag gtaggacaga agtatcatcc ctacccccta
1381 actaatctgt tattaaagct acaaattctt cacatcaaaa aaaaaaaaaa aaaaaaaaaa
1441 aaaaaa
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