LOCUS       NM_001271493            2752 bp    mRNA    linear   ROD 30-MAR-2024
DEFINITION  Rattus norvegicus OCA2 melanosomal transmembrane protein (Oca2),
            mRNA.
ACCESSION   NM_001271493 XM_002725626
VERSION     NM_001271493.1
KEYWORDS    RefSeq; RefSeq Select.
SOURCE      Rattus norvegicus (Norway rat)
  ORGANISM  Rattus norvegicus
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha;
            Muroidea; Muridae; Murinae; Rattus.
REFERENCE   1  (bases 1 to 2752)
  AUTHORS   Yoshizawa,J., Abe,Y., Oiso,N., Fukai,K., Hozumi,Y., Nakamura,T.,
            Narita,T., Motokawa,T., Wakamatsu,K., Ito,S., Kawada,A., Tamiya,G.
            and Suzuki,T.
  TITLE     Variants in melanogenesis-related genes associate with skin cancer
            risk among Japanese populations
  JOURNAL   J Dermatol 41 (4), 296-302 (2014)
   PUBMED   24617981
REFERENCE   2  (bases 1 to 2752)
  AUTHORS   Jaworek,T.J., Kausar,T., Bell,S.M., Tariq,N., Maqsood,M.I.,
            Sohail,A., Ali,M., Iqbal,F., Rasool,S., Riazuddin,S., Shaikh,R.S.
            and Ahmed,Z.M.
  TITLE     Molecular genetic studies and delineation of the oculocutaneous
            albinism phenotype in the Pakistani population
  JOURNAL   Orphanet J Rare Dis 7, 44 (2012)
   PUBMED   22734612
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2752)
  AUTHORS   Han,J., Qureshi,A.A., Nan,H., Zhang,J., Song,Y., Guo,Q. and
            Hunter,D.J.
  TITLE     A germline variant in the interferon regulatory factor 4 gene as a
            novel skin cancer risk locus
  JOURNAL   Cancer Res 71 (5), 1533-1539 (2011)
   PUBMED   21270109
REFERENCE   4  (bases 1 to 2752)
  AUTHORS   Johanson,H.C., Chen,W., Wicking,C. and Sturm,R.A.
  TITLE     Inheritance of a novel mutated allele of the OCA2 gene associated
            with high incidence of oculocutaneous albinism in a Polynesian
            community
  JOURNAL   J Hum Genet 55 (2), 103-111 (2010)
   PUBMED   20019752
REFERENCE   5  (bases 1 to 2752)
  AUTHORS   Duffy,D.L., Zhao,Z.Z., Sturm,R.A., Hayward,N.K., Martin,N.G. and
            Montgomery,G.W.
  TITLE     Multiple pigmentation gene polymorphisms account for a substantial
            proportion of risk of cutaneous malignant melanoma
  JOURNAL   J Invest Dermatol 130 (2), 520-528 (2010)
   PUBMED   19710684
REFERENCE   6  (bases 1 to 2752)
  AUTHORS   Hirobe,T., Wakamatsu,K. and Ito,S.
  TITLE     Effects of genic substitution at the agouti, brown, albino, dilute,
            and pink-eyed dilution loci on the proliferation and
            differentiation of mouse epidermal melanocytes in serum-free
            culture
  JOURNAL   Eur J Cell Biol 75 (2), 184-191 (1998)
   PUBMED   9548375
REFERENCE   7  (bases 1 to 2752)
  AUTHORS   Ozeki,H., Ito,S., Wakamatsu,K. and Hirobe,T.
  TITLE     Chemical characterization of hair melanins in various coat-color
            mutants of mice
  JOURNAL   J Invest Dermatol 105 (3), 361-366 (1995)
   PUBMED   7665913
REFERENCE   8  (bases 1 to 2752)
  AUTHORS   Durham-Pierre,D., Gardner,J.M., Nakatsu,Y., King,R.A., Francke,U.,
            Ching,A., Aquaron,R., del Marmol,V. and Brilliant,M.H.
  TITLE     African origin of an intragenic deletion of the human P gene in
            tyrosinase positive oculocutaneous albinism
  JOURNAL   Nat Genet 7 (2), 176-179 (1994)
   PUBMED   7920637
REFERENCE   9  (bases 1 to 2752)
  AUTHORS   Moore,K.J., Swing,D.A., Copeland,N.G. and Jenkins,N.A.
  TITLE     Interaction of the murine dilute suppressor gene (dsu) with
            fourteen coat color mutations
  JOURNAL   Genetics 125 (2), 421-430 (1990)
   PUBMED   2379821
  REMARK    Erratum:[Genetics 1990 Sep;126(1):285]
REFERENCE   10 (bases 1 to 2752)
  AUTHORS   Bryan,J.H.
  TITLE     Spermatogenesis revisited. V. Spermiogenesis in mice homozygous for
            two different male-sterile mutations (ps and hpy)
  JOURNAL   Cell Tissue Res 221 (1), 169-180 (1981)
   PUBMED   7317942
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            JAXUCZ010000001.1.
            
            On Sep 29, 2012 this sequence version replaced XM_002725626.2.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AB191343.1, SRR26643429.2090.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA5760386,
                                           SAMEA5760389 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-106               JAXUCZ010000001.1  116252026-116252131
            107-370             JAXUCZ010000001.1  116267833-116268096
            371-466             JAXUCZ010000001.1  116305660-116305755
            467-655             JAXUCZ010000001.1  116307949-116308137
            656-713             JAXUCZ010000001.1  116310666-116310723
            714-786             JAXUCZ010000001.1  116311781-116311853
            787-947             JAXUCZ010000001.1  116319528-116319688
            948-1027            JAXUCZ010000001.1  116321174-116321253
            1028-1181           JAXUCZ010000001.1  116322775-116322928
            1182-1253           JAXUCZ010000001.1  116344686-116344757
            1254-1319           JAXUCZ010000001.1  116346825-116346890
            1320-1376           JAXUCZ010000001.1  116349487-116349543
            1377-1501           JAXUCZ010000001.1  116352078-116352202
            1502-1640           JAXUCZ010000001.1  116353231-116353369
            1641-1773           JAXUCZ010000001.1  116355666-116355798
            1774-1921           JAXUCZ010000001.1  116357089-116357236
            1922-1979           JAXUCZ010000001.1  116361162-116361219
            1980-2088           JAXUCZ010000001.1  116369115-116369223
            2089-2216           JAXUCZ010000001.1  116389677-116389804
            2217-2276           JAXUCZ010000001.1  116455980-116456039
            2277-2381           JAXUCZ010000001.1  116456602-116456706
            2382-2475           JAXUCZ010000001.1  116465191-116465284
            2476-2569           JAXUCZ010000001.1  116473446-116473539
            2570-2752           JAXUCZ010000001.1  116581656-116581838
FEATURES             Location/Qualifiers
     source          1..2752
                     /organism="Rattus norvegicus"
                     /mol_type="mRNA"
                     /strain="BN"
                     /db_xref="taxon:10116"
                     /chromosome="1"
                     /map="1q22"
     gene            1..2752
                     /gene="Oca2"
                     /note="OCA2 melanosomal transmembrane protein"
                     /db_xref="GeneID:100365773"
                     /db_xref="RGD:2318412"
     exon            1..106
                     /gene="Oca2"
                     /inference="alignment:Splign:2.1.0"
     exon            107..370
                     /gene="Oca2"
                     /inference="alignment:Splign:2.1.0"
     CDS             126..2654
                     /gene="Oca2"
                     /note="oculocutaneous albinism II; pink-eyed
                     dilution-like"
                     /codon_start=1
                     /product="P protein"
                     /protein_id="NP_001258422.1"
                     /db_xref="GeneID:100365773"
                     /db_xref="RGD:2318412"
                     /translation="MHLENKDIRLASAMLEVELHQTSALSVPTCPDPGRPLTVKPTAS
                     NYELGQADPCIPHAGEAAGKSPCVPEHAEFGSFLMKGRTHSPLSQFSSSLKDLSFKED
                     TPLLWNSPQKKRSQFMPVHHPEFIATEDSWESGLTVWEQKCMLGKEVADLSALASSEK
                     GDLAGGVHLRAQVSKLGCCVRWMKITGLFVFVVLCSILFSLYPDQGKLWQLLAVSPLE
                     NYSVTLSGRADSIILQLDLAGALMPGGPSGSGKEEHVMVVVTQTDAVGNRWRRPQQVT
                     HNWTVPLNPRSEHVVVSRTFEIVSREAVSISIQASLQQTRLVPLLLAHQFLGASVEAQ
                     VASAVAILTGVYTLIIFEIVHRTLAAMLGALAALAALAVVGDRPSLTHVVEWIDFETL
                     ALLFGMMILVAIFSETGFFDYCAVKAYQLSRGRVWAMIIMLCLMAAILSAFLDNVTTM
                     LLFTPVTIRLCEVLNLDPRQVLIAEVIFTNIGGAATAIGDPPNVIIVSNQELRKMGLD
                     FAGFTAHMFLGICLVLLVSFPLLRLLYWNKKLYNKEPSEIVELKHEIHVWRLTAQRIS
                     PASREETAVRGLLLEKVLALEHLLAQRLHTFHRQISQEDKNWETNIQELQRKHRISDR
                     SLLVKCLTVLGFVISMFFLNSFVPGIHLDLGWIAILGAIWLLILADIHDFEIILHRVE
                     WATLLFFAALFVLMEALTHLHLVEYVGEQTALLIKMVPEDQRFAAAIVLIVWVSALAS
                     SLIDNIPFTATMIPVLLNLSQDPEISLPALPLMYALALGACLGGNGTLIGASANVVCA
                     GIAEQHGYGFSFMEFFRLGFPMMLMSCTIGMCYLLIAHVVVGWN"
     exon            371..466
                     /gene="Oca2"
                     /inference="alignment:Splign:2.1.0"
     exon            467..655
                     /gene="Oca2"
                     /inference="alignment:Splign:2.1.0"
     exon            656..713
                     /gene="Oca2"
                     /inference="alignment:Splign:2.1.0"
     exon            714..786
                     /gene="Oca2"
                     /inference="alignment:Splign:2.1.0"
     exon            787..947
                     /gene="Oca2"
                     /inference="alignment:Splign:2.1.0"
     exon            948..1027
                     /gene="Oca2"
                     /inference="alignment:Splign:2.1.0"
     exon            1028..1181
                     /gene="Oca2"
                     /inference="alignment:Splign:2.1.0"
     exon            1182..1253
                     /gene="Oca2"
                     /inference="alignment:Splign:2.1.0"
     exon            1254..1319
                     /gene="Oca2"
                     /inference="alignment:Splign:2.1.0"
     exon            1320..1376
                     /gene="Oca2"
                     /inference="alignment:Splign:2.1.0"
     exon            1377..1501
                     /gene="Oca2"
                     /inference="alignment:Splign:2.1.0"
     exon            1502..1640
                     /gene="Oca2"
                     /inference="alignment:Splign:2.1.0"
     exon            1641..1773
                     /gene="Oca2"
                     /inference="alignment:Splign:2.1.0"
     exon            1774..1921
                     /gene="Oca2"
                     /inference="alignment:Splign:2.1.0"
     exon            1922..1979
                     /gene="Oca2"
                     /inference="alignment:Splign:2.1.0"
     exon            1980..2088
                     /gene="Oca2"
                     /inference="alignment:Splign:2.1.0"
     exon            2089..2216
                     /gene="Oca2"
                     /inference="alignment:Splign:2.1.0"
     exon            2217..2276
                     /gene="Oca2"
                     /inference="alignment:Splign:2.1.0"
     exon            2277..2381
                     /gene="Oca2"
                     /inference="alignment:Splign:2.1.0"
     exon            2382..2475
                     /gene="Oca2"
                     /inference="alignment:Splign:2.1.0"
     exon            2476..2569
                     /gene="Oca2"
                     /inference="alignment:Splign:2.1.0"
     exon            2570..2752
                     /gene="Oca2"
                     /inference="alignment:Splign:2.1.0"
ORIGIN      
        1 gcctgctgag aaatctttcc ccaagggttg tacactatcc acgacccagg gcctttggat
       61 ctggacactg gacttcactg ctggagaaag atcatccagt catcagaacg atcagcaacg
      121 gggacatgca ccttgagaac aaagacatca ggctggcctc agccatgctg gaagtagagc
      181 tacaccagac atctgctctg tcagttccaa cttgcccaga cccaggacgg ccgctgacag
      241 tcaaacccac tgccagtaac tatgagctcg gccaggcaga cccctgcatc ccacatgctg
      301 gtgaggctgc tgggaagagc ccctgtgttc ctgaacatgc agaatttggc tcattcctta
      361 tgaaggggag gactcattcg cctttgtctc agttcagctc cagcttaaaa gacctttctt
      421 ttaaggaaga cactcctctg ctgtggaatt ccccacaaaa gaaaaggtct cagttcatgc
      481 ctgttcatca cccagaattc atagctactg aagattcatg ggaaagcggc ctgactgtct
      541 gggagcaaaa atgcatgctg ggtaaagaag ttgcagattt gtctgcattg gcctcctcag
      601 agaaagggga tcttgcaggc ggtgtccacc ttagagccca ggtctccaag cttggatgct
      661 gtgtgcgctg gatgaagatc acaggcttgt ttgttttcgt ggtgctgtgc tctattttat
      721 tcagcctgta tccagatcaa ggaaagctat ggcagctgtt ggccgtgtct ccgctggaaa
      781 actactctgt gaccctcagt ggccgcgctg actccataat tcttcagctg gacctggcag
      841 gggccttaat gcctggcgga ccaagtggtt cagggaaaga agaacatgtc atggtggtgg
      901 tgactcagac agacgccgtg ggcaacagat ggcggcgacc acagcaggtc actcacaatt
      961 ggactgtccc tttaaatcca agaagcgagc acgtggtggt gagcagaacc tttgagatag
     1021 tgagcaggga ggctgtttct atcagcatcc aggcctctct acaacagact cgccttgttc
     1081 ctctcttgct ggcccatcag ttccttgggg caagtgttga agcacaagtg gcaagcgcgg
     1141 tggccatcct cacaggggtt tatactctga tcatatttga gattgttcac agaaccctgg
     1201 cagccatgtt gggagctctt gcagcactag cagctttggc tgtggttgga gatagaccca
     1261 gcctgaccca cgtggtggag tggattgatt ttgagactct ggccctgctg tttggcatga
     1321 tgatcttggt agctatattt tcagaaacag gattttttga ttactgtgct gtaaaggcat
     1381 accagctttc tcgaggaaga gtgtgggcca tgataatcat gctttgtctc atggctgcca
     1441 tcctttctgc cttcttagac aatgtcacca cgatgctcct ttttacccct gtcaccataa
     1501 ggttatgtga ggtgctcaac cttgatccaa gacaagtcct cattgcagaa gtgatcttca
     1561 caaacattgg aggagccgcc actgctattg gggacccacc aaatgttatc attgtgtcca
     1621 atcaggagtt aaggaaaatg ggtctggact tcgctggttt cacagcacac atgttcctgg
     1681 gaatttgcct tgttctcctg gtttcctttc ccctcctcag actcctgtat tggaacaaaa
     1741 agctttataa caaggagcct agtgagatcg tcgagctgaa gcatgagatt catgtctggc
     1801 gtttgacagc ccagcgcatc agtccagcca gccgtgagga gacagctgtg cgtggcttgc
     1861 tgctggagaa agtgcttgcc ctggagcatc tgctggctca aaggctgcat actttccaca
     1921 gacaaatttc acaggaagac aaaaattggg agaccaatat ccaagagcta caaagaaagc
     1981 ataggatatc agacaggagt ctgcttgtca agtgcctgac ggtgctggga tttgtcatct
     2041 ccatgttttt tctcaactcc tttgtccctg gcattcacct tgatcttgga tggattgcta
     2101 ttctgggtgc catctggttg ctaattttag ctgatattca tgactttgag atcattctac
     2161 acagagtaga gtgggcgact ctcctcttct ttgcagcact ctttgtgctg atggaggcat
     2221 tgacacatct tcacttagta gaatatgttg gagaacagac tgccctgcta ataaagatgg
     2281 ttccagaaga tcagcgcttt gcagctgcca ttgtcctaat agtgtgggtc tcagccttgg
     2341 catcgtcctt gattgacaac atcccattca ctgctacaat gattcctgtc ctcctgaacc
     2401 tgagccaaga ccctgaaatt agtttgcctg cactgcctct catgtatgcc ctggcccttg
     2461 gtgcctgcct gggaggtaac gggacactga taggagcatc tgcaaatgtt gtttgcgcag
     2521 gaatcgcaga gcagcatggg tatggattct ctttcatgga atttttcagg ttgggcttcc
     2581 ccatgatgct catgtcctgc accattggga tgtgctatct cctgattgct catgttgtgg
     2641 tgggatggaa ttaactgcta gccgtcattt gcagaccaac agaaacatga ttatcaacag
     2701 caccgggtgg aagatttccc cacagcacct ctgaagaaga aaaagatgag tt
//
