LOCUS BC012097 3082 bp mRNA linear HUM 09-JUN-2008 DEFINITION Homo sapiens oculocutaneous albinism II, mRNA (cDNA clone MGC:20070 IMAGE:4641135), complete cds. ACCESSION BC012097 VERSION BC012097.1 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 3082) 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 3082) CONSRTM NIH MGC Project TITLE Direct Submission JOURNAL Submitted (02-AUG-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: ATCC/DCTD/DTP cDNA Library Preparation: Rubin Laboratory cDNA Library Arrayed by: The I.M.A.G.E. Consortium (LLNL) DNA Sequencing by: Genome Sequence Centre, BC Cancer Agency, Vancouver, BC, Canada info@bcgsc.bc.ca Martin Hirst, Thomas Zeng, Ryan Morin, Michelle Moksa, Johnson Pang, Diana Mah, Jing Wang, Kieth Fichter, Eric Chuah, Allen Delaney, Rob Kirkpatrick, Agnes Baross, Sarah Barber, Mabel Brown-John, Steve S. Chand, William Chow, Ryan Babakaiff, Dave Wong, Corey Matsuo, Jaclyn Beland, Susan Gibson, Luis delRio, Ruth Featherstone, Malachi Griffith, Obi Griffith, Ran Guin, Nancy Liao, Kim MacDonald, Mike R. Mayo, Josh Moran, Diana Palmquist, JR Santos, Duane Smailus, Jeff Stott, Miranda Tsai, George Yang, Jacquie Schein, Asim Siddiqui,Steven Jones, Rob Holt, Marco Marra. 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: 29 Row: l Column: 19 This clone was selected for full length sequencing because it passed the following selection criteria: matched mRNA gi: 4557810. FEATURES Location/Qualifiers source 1..3082 /db_xref="H-InvDB:HIT000035656" /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /clone="MGC:20070 IMAGE:4641135" /tissue_type="Skin, melanotic melanoma." /clone_lib="NIH_MGC_20" /lab_host="DH10B-R" /note="Vector: pOTB7" gene 1..3082 /gene="OCA2" /gene_synonym="BEY" /gene_synonym="BEY1" /gene_synonym="BEY2" /gene_synonym="BOCA" /gene_synonym="EYCL" /gene_synonym="HCL3" /gene_synonym="PED" /gene_synonym="SHEP1" /db_xref="GeneID:4948" /db_xref="HGNC:HGNC:8101" /db_xref="MIM:611409" CDS 111..2555 /gene="OCA2" /gene_synonym="BEY" /gene_synonym="BEY1" /gene_synonym="BEY2" /gene_synonym="BOCA" /gene_synonym="EYCL" /gene_synonym="HCL3" /gene_synonym="PED" /gene_synonym="SHEP1" /codon_start=1 /product="OCA2 protein" /protein_id="AAH12097.1" /db_xref="GeneID:4948" /db_xref="HGNC:HGNC:8101" /db_xref="MIM:611409" /translation="MHLEGRDGRRYPGAPAVELLQTSVPSGLAELVAGKRRLPRGAGG ADPSHSCPRGAAGQSSWAPAGQEFASFLTKGRSHSSLPQMSSSRSKDSCFTENTPLLR NSLQEKGSRCIPVYHPEFITAEESWEDSSADWERRYLLSREVSGLSASASSEKGDLLD SPHIRLRLSKLRRCVQWLKVMGLFAFVVLCSILFSLYPDQGKLWQLLALSPLENYSVN LSSHVDSTLLQVDLAGALVASGPSRPGREEHIVVELTQADALGSRWRRPQQVTHNWTV YLNPRRSEHSVMSRTFEVLTRETVSISIRASLQQTQAVPLLMAHQYLRGSVETQVTIA TAILAGVYALIIFERPSLTHVVEWIDFETLALLFGMMILVAIFSETGFFDYCAVKAYR LSRGRVWAMIIMLCLIAAVLSAFLDNVTTMLLFTPVTIRLCEVLNLDPRQVLIAEVIF TNIGGAATAIGDPPNVIIVSNQELRKMGLDFAGFTAHMFIGICLVLLVCFPLLRLLYW NRKLYNKEPSEIVELKHEIHVWRLTAQRISPASREETAVRRLLLGKVLALEHLLARRL HTFHRQISQEDKNWETNIQELQKKHRISDGILLAKCLTVLGFVIFMFFLNSFVPGIHL DLGWIAILGAIWLLILADIHDFEIILHRVEWATLLFFAALFVLMEALAHLHLIEYVGE QTALLIKMVPEEQRLIAAIVLVVWVSALASSLIDNIPFTATMIPVLLNLSHDPEVGLP APPLMYALAFGACLGGNGTLIGASANVVCAGIAEQHGYGFSFMEFFRLGFPMMVVSCT VGMCYLLVAHVVVGWN" BASE COUNT 713 a 789 c 800 g 780 t ORIGIN 1 cttacttcga aggctgtgct ccgctcacca tccagagcgg aggtgcggac cttaaactca 61 ctcctggaga aagatctgca agtgcgcaga gagaagactg gcagtggagc atgcatctgg 121 agggcagaga cggcaggcgg taccccggcg cgccggcggt ggagctcctg cagacgtccg 181 tgcccagcgg actcgctgaa cttgtggccg gcaagcgcag gcttcctcgg ggagccggtg 241 gagctgaccc ctcgcactcc tgccccaggg gggctgccgg gcagagctct tgggctcctg 301 caggccagga gtttgcttca ttcctcacaa aagggaggtc tcactcttct ttgccccaga 361 tgtccagctc caggtctaaa gattcctgct ttacagaaaa cactcctttg ctgaggaatt 421 ccttacagga gaaagggtca cggtgcatac ctgtttacca tccagagttc atcactgctg 481 aagagtcttg ggaagacagc tctgctgact gggagcgaag atacctgcta agcagggagg 541 tgtctggtct gtctgcatct gcctcctccg agaagggaga ccttctggac agcccgcaca 601 tccgactccg tctttccaag ctgaggcgct gtgtgcagtg gctgaaagtc atgggcctgt 661 ttgcctttgt ggtgctgtgt tctattttgt tcagcctata tccggatcaa ggaaagctct 721 ggcagctgtt ggccttatca ccgctggaga actactccgt gaaccttagc agccacgtgg 781 actccacgct gctgcaggtg gacctggcag gggccctagt ggccagtggg ccgagtcgtc 841 ctgggaggga agagcacatc gtggtggagc tgacccaggc tgacgctttg ggctccaggt 901 ggcggcggcc acagcaggtc actcacaact ggacggtgta tttaaatccg aggagaagcg 961 agcactcagt gatgagcagg acctttgagg tactgaccag agagacggtg tccatcagca 1021 tccgggcctc cctgcagcag acccaggctg tccctctttt gatggctcat cagtacctcc 1081 gcggaagtgt agaaacccag gtgaccatcg cgacggccat cctcgcgggc gtctacgcgc 1141 tgatcatatt tgagagaccc agcctgaccc atgtggtgga gtggattgat tttgagacgc 1201 tggccctgct gtttggcatg atgatcttag tagccatatt ttcagaaacg ggatttttcg 1261 attattgtgc tgtaaaggca taccggctct cccggggacg ggtgtgggcc atgatcatca 1321 tgctctgtct catcgcggcc gtcctctctg ccttcttgga caacgtcacc accatgctcc 1381 tcttcacgcc tgtgaccata aggttgtgtg aggtgctcaa ccttgatcca agacaagtcc 1441 tgattgcaga agtgatcttc acaaacattg gaggagctgc cactgccatc ggggaccctc 1501 caaatgtcat tattgtttcc aaccaagagc tgaggaagat gggcctggac tttgccggat 1561 tcactgcaca catgttcatt gggatttgtc ttgttctcct ggtctgcttt ccgctcctca 1621 gactccttta ctggaacaga aagctttata acaaggaacc cagtgagatt gttgaactga 1681 agcacgagat tcacgtctgg cgcctgactg ctcagcgcat cagcccggcc agccgcgagg 1741 agacagctgt gcgccgcctg ctgctgggga aggtgctggc actggagcac ctgctcgccc 1801 ggaggctgca caccttccac agacagatct cacaggagga caaaaattgg gagaccaata 1861 tccaagaact ccaaaaaaag cataggatat ctgacgggat tctgctcgcc aaatgcctga 1921 cagtgttggg atttgttatc ttcatgtttt tcctcaattc gtttgtccct ggcattcatc 1981 ttgatcttgg atggattgct attctgggtg ccatctggtt gctaatttta gctgatattc 2041 atgattttga gataattcta cacagagtgg aatgggcaac ccttctgttt tttgcagcgc 2101 tctttgttct gatggaggca ttggcacatc tccacttaat agaatatgtt ggagaacaaa 2161 ctgctttgct aataaagatg gtcccagagg agcagcgcct catagccgcc attgtcctgg 2221 tggtgtgggt ctcagccctg gcgtcgtccc tgattgacaa catcccgttc actgctacca 2281 tgattcccgt gctcctgaac ctgagccacg accctgaggt tggcctgccc gcaccgccgc 2341 tcatgtatgc cctggccttc ggtgcttgcc tgggaggtaa cgggacactg attggcgcgt 2401 cagcaaacgt cgtgtgtgca gggattgcag aacagcatgg atatgggttc tccttcatgg 2461 aatttttcag gctgggcttc ccaatgatgg ttgtgtcctg cactgttggg atgtgttatc 2521 tccttgtggc tcatgtggtg gtgggatgga attaatagac atccatctat tgctcgaaga 2581 ctaaaggaaa cttcatccat cacaacccat tagtcataaa actaccctga ccccactgtt 2641 tgaagaagaa aaggtgctta ccctggagat gctacagaga cacagtggaa tagaccttga 2701 cactaacact ctaattcaag cgaatgttgg aacaccatga cctcctctgt gtgtcctttc 2761 tccccaagga caaaatgtag aaagatgtga gataacttac tcaagattcc cctccagaaa 2821 aatacgtatg tttaaaaacc cttcctgcta tacataggaa aagacacaca tccacctaaa 2881 attgactgta ctgtttaact gtcaattctc ctgaggctaa acacagtttg tttttcttgt 2941 aatcactttt catgttaaaa taatcagcat tcaaattgta tgctttctga atatagactt 3001 tctgggaaaa ggtttactgc tcgtaaggaa acattttatg tattaaaata aactgttcct 3061 tgataaaaaa aaaaaaaaaa aa //