LOCUS       NM_021879               3133 bp    mRNA    linear   ROD 28-AUG-2024
DEFINITION  Mus musculus oculocutaneous albinism II (Oca2), transcript variant
            1, mRNA.
ACCESSION   NM_021879
VERSION     NM_021879.3
KEYWORDS    RefSeq; RefSeq Select.
SOURCE      Mus musculus (house mouse)
  ORGANISM  Mus musculus
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha;
            Muroidea; Muridae; Murinae; Mus; Mus.
REFERENCE   1  (bases 1 to 3133)
  AUTHORS   Sun,Q., Lee,W., Hu,H., Ogawa,T., De Leon,S., Katehis,I., Lim,C.H.,
            Takeo,M., Cammer,M., Taketo,M.M., Gay,D.L., Millar,S.E. and Ito,M.
  TITLE     Dedifferentiation maintains melanocyte stem cells in a dynamic
            niche
  JOURNAL   Nature 616 (7958), 774-782 (2023)
   PUBMED   37076619
REFERENCE   2  (bases 1 to 3133)
  AUTHORS   Nakano,T., Takenaka,M., Sugiyama,M. and Ishikawa,A.
  TITLE     QTL Mapping for Age-Related Eye Pigmentation in the Pink-Eyed
            Dilution Castaneus Mutant Mouse
  JOURNAL   Genes (Basel) 13 (7), 1138 (2022)
   PUBMED   35885921
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3133)
  AUTHORS   Horiuchi,K., Perez-Cerezales,S., Papasaikas,P., Ramos-Ibeas,P.,
            Lopez-Cardona,A.P., Laguna-Barraza,R., Fonseca Balvis,N.,
            Pericuesta,E., Fernandez-Gonzalez,R., Planells,B., Viera,A.,
            Suja,J.A., Ross,P.J., Alen,F., Orio,L., Rodriguez de Fonseca,F.,
            Pintado,B., Valcarcel,J. and Gutierrez-Adan,A.
  TITLE     Impaired Spermatogenesis, Muscle, and Erythrocyte Function in U12
            Intron Splicing-Defective Zrsr1 Mutant Mice
  JOURNAL   Cell Rep 23 (1), 143-155 (2018)
   PUBMED   29617656
REFERENCE   4  (bases 1 to 3133)
  AUTHORS   Suzuki,A., Abdallah,N., Gajera,M., Jun,G., Jia,P., Zhao,Z. and
            Iwata,J.
  TITLE     Genes and microRNAs associated with mouse cleft palate: A
            systematic review and bioinformatics analysis
  JOURNAL   Mech Dev 150, 21-27 (2018)
   PUBMED   29475039
REFERENCE   5  (bases 1 to 3133)
  AUTHORS   Delahanty,R.J., Zhang,Y., Bichell,T.J., Shen,W., Verdier,K.,
            Macdonald,R.L., Xu,L., Boyd,K., Williams,J. and Kang,J.Q.
  TITLE     Beyond Epilepsy and Autism: Disruption of GABRB3 Causes Ocular
            Hypopigmentation
  JOURNAL   Cell Rep 17 (12), 3115-3124 (2016)
   PUBMED   28009282
  REMARK    GeneRIF: These results suggest that impairment in GABRB3
            downregulates OCA2 and indirectly causes ocular hypopigmentation
            and visual defects in Angelman syndrome (AS) and Prader-Willi
            syndrome
REFERENCE   6  (bases 1 to 3133)
  AUTHORS   Wood,A.W. and Taylor,B.A.
  TITLE     Genetic regulation of coumarin hydroxylase activity in mice.
            Evidence for single locus control on chromosome
  JOURNAL   J Biol Chem 254 (13), 5647-5651 (1979)
   PUBMED   447675
REFERENCE   7  (bases 1 to 3133)
  AUTHORS   LaVail,J.H., Nixon,R.A. and Sidman,R.L.
  TITLE     Genetic control of retinal ganglion cell projections
  JOURNAL   J Comp Neurol 182 (3), 399-421 (1978)
   PUBMED   102659
REFERENCE   8  (bases 1 to 3133)
  AUTHORS   MacSwiney,F.J. and Wallace,M.E.
  TITLE     Genetics of warfarin-resistance in house mice of three separate
            localities
  JOURNAL   J Hyg (Lond) 80 (1), 69-75 (1978)
   PUBMED   621381
REFERENCE   9  (bases 1 to 3133)
  AUTHORS   Wolfe,H.G.
  TITLE     Effects on sperm morphology by alleles at the pink-eyed dilution
            locus in mice
  JOURNAL   Genetics 85 (2), 303-308 (1977)
   PUBMED   863229
REFERENCE   10 (bases 1 to 3133)
  AUTHORS   Johnson,D.R. and Hunt,D.M.
  TITLE     Endocrinological findings in sterile pink-eyed mice
  JOURNAL   J Reprod Fertil 42 (1), 51-58 (1975)
   PUBMED   162962
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC102150.10, AC121900.2, AC102220.8 and AC102299.11.
            
            On Jun 3, 2018 this sequence version replaced NM_021879.2.
            
            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 :: BC119220.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN00849374, SAMN00849379
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-123               AC102150.10        148671-148793
            124-387             AC102150.10        163681-163944
            388-456             AC121900.2         89494-89562
            457-645             AC121900.2         92874-93062
            646-703             AC121900.2         95585-95642
            704-776             AC121900.2         96714-96786
            777-937             AC121900.2         105838-105998
            938-1017            AC121900.2         107564-107643
            1018-1171           AC121900.2         109223-109376
            1172-1243           AC121900.2         126858-126929
            1244-1309           AC121900.2         128486-128551
            1310-1366           AC121900.2         133617-133673
            1367-1491           AC121900.2         135697-135821
            1492-1630           AC121900.2         136777-136915
            1631-1763           AC121900.2         139377-139509
            1764-1911           AC121900.2         140830-140977
            1912-1969           AC121900.2         142441-142498
            1970-2078           AC121900.2         144082-144190
            2079-2206           AC121900.2         169226-169353
            2207-2266           AC102220.8         113258-113317       c
            2267-2371           AC102220.8         112561-112665       c
            2372-2465           AC102220.8         103667-103760       c
            2466-2559           AC102220.8         97643-97736         c
            2560-3133           AC102299.11        93778-94351         c
FEATURES             Location/Qualifiers
     source          1..3133
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="7"
                     /map="7 33.44 cM"
     gene            1..3133
                     /gene="Oca2"
                     /gene_synonym="D7H15S12; D7Icr28RN; D7Nic1; p; p<cas>"
                     /note="oculocutaneous albinism II"
                     /db_xref="GeneID:18431"
                     /db_xref="MGI:MGI:97454"
     exon            1..123
                     /gene="Oca2"
                     /gene_synonym="D7H15S12; D7Icr28RN; D7Nic1; p; p<cas>"
                     /inference="alignment:Splign:2.1.0"
     exon            124..387
                     /gene="Oca2"
                     /gene_synonym="D7H15S12; D7Icr28RN; D7Nic1; p; p<cas>"
                     /inference="alignment:Splign:2.1.0"
     CDS             143..2644
                     /gene="Oca2"
                     /gene_synonym="D7H15S12; D7Icr28RN; D7Nic1; p; p<cas>"
                     /note="pink-eyed dilution protein; melanocyte-specific
                     transporter protein"
                     /codon_start=1
                     /product="P protein"
                     /protein_id="NP_068679.1"
                     /db_xref="CCDS:CCDS21319.1"
                     /db_xref="GeneID:18431"
                     /db_xref="MGI:MGI:97454"
                     /translation="MRLENKDIRLASAVLEVELHQTSALSVPTCPDPGRLLTVKPATS
                     NYKLGQADPCIPYAGEAAGKSVCVPEHTEFGSFLVKGSSSLKDLSFKEDTPLLWNSSQ
                     KKRSQLMPVHHPEFIATEGSWENGLTAWEQKCMLGKEVADLSALASSEKRDLAGSVHL
                     RAQVSKLGCCVRWIKITGLFVFVVLCSILFSLYPDQGKFWQLLAVSPLENYSVNLSGH
                     ADSMILQLDLAGALMAGGPSGSGKEEHVVVVVTQTDAAGNRRRRPQQLTYNWTVLLNP
                     RSEHVVVSRTFEIVSREAVSISIQASLQQTRLVPLLLAHQFLGASVEAQVASAVAILA
                     GVYTLIIFEIVHRTLAAMLGALAALAALAVVGDRPSLTHVVEWIDFETLALLFGMMIL
                     VAVFSETGFFDYCAVKAYQLSRGRVWAMIFMLCLMAAILSAFLDNVTTMLLFTPVTIR
                     LCEVLNLDPRQVLIAEVIFTNIGGAATAIGDPPNVIIVSNQELRKMGLDFAGFTAHMF
                     LGICLVLLVSFPLLRLLYWNKKLYNKEPSEIVELKHEIHVWRLTAQRISPASREETAV
                     RGLLLEKVLALEHLLAQRLHTFHRQISQEDKNWETNIQELQRKHRISDRSLLVKCLTV
                     LGFVISMFFLNSFVPGIHLDLGWIAILGAIWLLILADIHDFEIILHRVEWATLLFFAA
                     LFVLMEALTHLHLVEYVGEQTALLIKMVPEDQRFAAAIVLIVWVSALASSLIDNIPFT
                     ATMIPVLLNLSQDPEISLPALPLMYALALGACLGGNGTLIGASTNVVCAGIAEKHGYG
                     FSFMEFFRLGFPVMLMSCTIGMCYLLIAHIVVGWN"
     exon            388..456
                     /gene="Oca2"
                     /gene_synonym="D7H15S12; D7Icr28RN; D7Nic1; p; p<cas>"
                     /inference="alignment:Splign:2.1.0"
     exon            457..645
                     /gene="Oca2"
                     /gene_synonym="D7H15S12; D7Icr28RN; D7Nic1; p; p<cas>"
                     /inference="alignment:Splign:2.1.0"
     exon            646..703
                     /gene="Oca2"
                     /gene_synonym="D7H15S12; D7Icr28RN; D7Nic1; p; p<cas>"
                     /inference="alignment:Splign:2.1.0"
     exon            704..776
                     /gene="Oca2"
                     /gene_synonym="D7H15S12; D7Icr28RN; D7Nic1; p; p<cas>"
                     /inference="alignment:Splign:2.1.0"
     exon            777..937
                     /gene="Oca2"
                     /gene_synonym="D7H15S12; D7Icr28RN; D7Nic1; p; p<cas>"
                     /inference="alignment:Splign:2.1.0"
     exon            938..1017
                     /gene="Oca2"
                     /gene_synonym="D7H15S12; D7Icr28RN; D7Nic1; p; p<cas>"
                     /inference="alignment:Splign:2.1.0"
     exon            1018..1171
                     /gene="Oca2"
                     /gene_synonym="D7H15S12; D7Icr28RN; D7Nic1; p; p<cas>"
                     /inference="alignment:Splign:2.1.0"
     exon            1172..1243
                     /gene="Oca2"
                     /gene_synonym="D7H15S12; D7Icr28RN; D7Nic1; p; p<cas>"
                     /inference="alignment:Splign:2.1.0"
     exon            1244..1309
                     /gene="Oca2"
                     /gene_synonym="D7H15S12; D7Icr28RN; D7Nic1; p; p<cas>"
                     /inference="alignment:Splign:2.1.0"
     exon            1310..1366
                     /gene="Oca2"
                     /gene_synonym="D7H15S12; D7Icr28RN; D7Nic1; p; p<cas>"
                     /inference="alignment:Splign:2.1.0"
     exon            1367..1491
                     /gene="Oca2"
                     /gene_synonym="D7H15S12; D7Icr28RN; D7Nic1; p; p<cas>"
                     /inference="alignment:Splign:2.1.0"
     exon            1492..1630
                     /gene="Oca2"
                     /gene_synonym="D7H15S12; D7Icr28RN; D7Nic1; p; p<cas>"
                     /inference="alignment:Splign:2.1.0"
     exon            1631..1763
                     /gene="Oca2"
                     /gene_synonym="D7H15S12; D7Icr28RN; D7Nic1; p; p<cas>"
                     /inference="alignment:Splign:2.1.0"
     exon            1764..1911
                     /gene="Oca2"
                     /gene_synonym="D7H15S12; D7Icr28RN; D7Nic1; p; p<cas>"
                     /inference="alignment:Splign:2.1.0"
     exon            1912..1969
                     /gene="Oca2"
                     /gene_synonym="D7H15S12; D7Icr28RN; D7Nic1; p; p<cas>"
                     /inference="alignment:Splign:2.1.0"
     exon            1970..2078
                     /gene="Oca2"
                     /gene_synonym="D7H15S12; D7Icr28RN; D7Nic1; p; p<cas>"
                     /inference="alignment:Splign:2.1.0"
     exon            2079..2206
                     /gene="Oca2"
                     /gene_synonym="D7H15S12; D7Icr28RN; D7Nic1; p; p<cas>"
                     /inference="alignment:Splign:2.1.0"
     exon            2207..2266
                     /gene="Oca2"
                     /gene_synonym="D7H15S12; D7Icr28RN; D7Nic1; p; p<cas>"
                     /inference="alignment:Splign:2.1.0"
     exon            2267..2371
                     /gene="Oca2"
                     /gene_synonym="D7H15S12; D7Icr28RN; D7Nic1; p; p<cas>"
                     /inference="alignment:Splign:2.1.0"
     exon            2372..2465
                     /gene="Oca2"
                     /gene_synonym="D7H15S12; D7Icr28RN; D7Nic1; p; p<cas>"
                     /inference="alignment:Splign:2.1.0"
     exon            2466..2559
                     /gene="Oca2"
                     /gene_synonym="D7H15S12; D7Icr28RN; D7Nic1; p; p<cas>"
                     /inference="alignment:Splign:2.1.0"
     exon            2560..3133
                     /gene="Oca2"
                     /gene_synonym="D7H15S12; D7Icr28RN; D7Nic1; p; p<cas>"
                     /inference="alignment:Splign:2.1.0"
ORIGIN      
        1 ccctctgggg ctgcaagtgc ctgctgagaa atcttacacc agggttgtgc tccatccacg
       61 actcagagcc tttggatctg gacactagac ttcactgctg gagagagatc agcgagtcat
      121 cagacagatc agcaacgggg acatgcgcct agagaacaaa gacatcaggc tggcctcagc
      181 cgtgctggaa gtagagctac accagacatc tgctttgtcg gtcccaactt gcccagaccc
      241 aggacggctg ctgaccgtca aacctgctac cagtaactac aagctgggcc aggcagaccc
      301 ctgcatccca tatgctggcg aggctgctgg gaagagcgtc tgtgttcctg aacatacaga
      361 gtttggctca ttcctcgtga aggggagctc cagcttaaaa gacctttctt ttaaggaaga
      421 cactcctctg ctctggaatt catcccaaaa gaaaaggtca cagctcatgc ctgttcatca
      481 cccagaattc atagctactg aaggttcctg ggaaaatggc cttactgcct gggagcaaaa
      541 atgcatgctg ggtaaagagg ttgctgattt gtctgcattg gcctcctcag agaaacggga
      601 tcttgcaggc agtgtccatc ttagagccca ggtctccaag cttgggtgct gtgtgcggtg
      661 gataaagatc acaggcttgt ttgttttcgt ggtgctctgc tctattttat tcagcctgta
      721 tccggaccaa ggaaagttct ggcagctgtt ggctgtgtca ccgctggaaa actactctgt
      781 gaacctcagt ggtcacgcgg actccatgat acttcagctg gacctggcag gggccttaat
      841 ggctggagga ccaagtggtt ccgggaaaga agaacatgtc gtggtggtgg tgacccagac
      901 agacgcagcg ggcaacagac ggcggcgacc acagcagctc acctacaatt ggactgtcct
      961 tttaaatcca agaagtgagc acgtggtggt gagcagaacc tttgagatag tgagcaggga
     1021 ggctgtttcc atcagcatcc aggcctctct ccaacagact cgcctcgttc ctcttttgct
     1081 ggcccatcag ttccttgggg caagcgttga agcacaagtg gccagtgcgg tggcaatcct
     1141 tgcaggggtt tatactctga tcatatttga gattgttcac agaaccctgg cagccatgtt
     1201 gggagcactt gcagcactag cagccttggc tgtggttgga gatagaccca gcctgaccca
     1261 cgtggtggag tggattgatt tcgagactct ggccctgctg tttggcatga tgatcttagt
     1321 agccgtattt tcagaaacag gattttttga ttactgtgct gtaaaggcat atcaactttc
     1381 tcgaggaaga gtgtgggcca tgatcttcat gctttgtctc atggctgcca tcctttctgc
     1441 cttcttagac aatgtcacta cgatgctcct ttttacccct gtcaccataa ggttatgtga
     1501 agtgctcaat cttgatccga gacaagtcct cattgcagaa gtgatcttca caaacattgg
     1561 aggagctgcc actgctattg gggacccacc aaatgttatc attgtttcca atcaggagtt
     1621 gagaaaaatg ggcctggact tcgctggttt cacagcacac atgttcctgg gaatttgcct
     1681 tgttctcctg gtctcctttc ccctcctcag acttctgtac tggaacaaaa agctttataa
     1741 caaggagcct agtgagatcg tcgaactgaa gcatgagatt catgtctggc gtttgactgc
     1801 ccagcgcatc agtccagcca gccgtgagga gacagctgtg cgtggcttgc tgctggagaa
     1861 agtgcttgcc ctggagcatc tgctggctca aaggttgcac actttccaca ggcaaatttc
     1921 acaggaagac aaaaattggg agaccaatat tcaagagcta caaagaaagc acaggatttc
     1981 agacaggagt ctgcttgtca agtgcctgac ggtgctggga tttgtcatct ccatgttctt
     2041 tctcaactcc tttgtccctg gcattcatct tgatcttgga tggattgcta ttctgggtgc
     2101 catctggttg ctaattttag ctgatattca tgactttgag atcattctac acagagtaga
     2161 gtgggcgact cttctcttct ttgcagcact ctttgtgctg atggaggcat tgacacatct
     2221 tcacttagta gagtatgttg gagaacagac tgccctacta ataaagatgg ttccagaaga
     2281 tcagcgcttt gcagctgcca ttgtcctgat agtgtgggtc tcagccttgg catcatcctt
     2341 gattgacaac atcccattta ctgctacgat gattcctgta ctcctgaacc tgagccaaga
     2401 ccctgaaatt agtttgcctg cactgcctct catgtatgcc ctggccctcg gtgcctgcct
     2461 gggaggtaat gggacactta tcggagcatc cacaaatgtt gtttgtgcag gaatcgcaga
     2521 gaagcatggg tatggattct ctttcatgga atttttcagg ttgggcttcc ctgtgatgct
     2581 catgtcctgc accattggga tgtgctatct cctgattgct cacattgtgg tgggatggaa
     2641 ttaacagcca gccagccatc atttgcagac caagagagac ttgatcagca tcagcatcag
     2701 catcagcatc agcatcagca tcagcatcag gtggaaggct tccccacagc acctccgaag
     2761 aagaaaagga tgagctcacc atgatataca tggcaaccaa tctttgttca ggtggatgat
     2821 gggaaactac atcttctccc tgtagacaaa aagtgggaaa aacaaatcaa caagattccc
     2881 agaagaaaaa atacatatat attgaaaata tttcttgtaa ttctatataa gaaatggtgc
     2941 aaatccaccc aaacagttgt cccttttagt ggtcaattct aagatataca gtttttctca
     3001 atgtaatcac cctacatgtg gaaatagcat tcagtttata tatcccttta atatgtcttt
     3061 ttctgggaag agacagatga gtgttaagaa aagattttgt gtatttaaaa aaaataaagt
     3121 gtcccttgac ata
//
