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
//