LOCUS       NM_000275               3143 bp    mRNA    linear   PRI 09-FEB-2025
DEFINITION  Homo sapiens OCA2 melanosomal transmembrane protein (OCA2),
            transcript variant 1, mRNA.
ACCESSION   NM_000275
VERSION     NM_000275.3
KEYWORDS    RefSeq; MANE Select.
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 3143)
  AUTHORS   Michaud,V., Sequeira,A., Mercier,E., Lasseaux,E., Plaisant,C.,
            Hadj-Rabia,S., Whalen,S., Bonneau,D., Dieux-Coeslier,A.,
            Morice-Picard,F., Coursimault,J., Arveiler,B. and Javerzat,S.
  TITLE     Unsuspected consequences of synonymous and missense variants in
            OCA2 can be detected in blood cell RNA samples of patients with
            albinism
  JOURNAL   Pigment Cell Melanoma Res 37 (5), 534-545 (2024)
   PUBMED   37650133
  REMARK    GeneRIF: Unsuspected consequences of synonymous and missense
            variants in OCA2 can be detected in blood cell RNA samples of
            patients with albinism.
REFERENCE   2  (bases 1 to 3143)
  AUTHORS   Jiang,B., Zhang,H., Kan,Y., Gao,X., Du,Z. and Liu,Q.
  TITLE     Novel compound heterozygous mutations in OCA2 gene were identified
            in a Chinese family with oculocutaneous albinism
  JOURNAL   Mol Genet Genomic Med 12 (1), e2297 (2024)
   PUBMED   37882226
  REMARK    GeneRIF: Novel compound heterozygous mutations in OCA2 gene were
            identified in a Chinese family with oculocutaneous albinism.
REFERENCE   3  (bases 1 to 3143)
  AUTHORS   Ang,K.C., Canfield,V.A., Foster,T.C., Harbaugh,T.D., Early,K.A.,
            Harter,R.L., Reid,K.P., Leong,S.L., Kawasawa,Y., Liu,D.,
            Hawley,J.W. and Cheng,K.C.
  TITLE     Native American genetic ancestry and pigmentation allele
            contributions to skin color in a Caribbean population
  JOURNAL   Elife 12, e77514 (2023)
   PUBMED   37294081
  REMARK    GeneRIF: Native American genetic ancestry and pigmentation allele
            contributions to skin color in a Caribbean population.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3143)
  AUTHORS   Lee,S.T., Nicholls,R.D., Jong,M.T., Fukai,K. and Spritz,R.A.
  TITLE     Organization and sequence of the human P gene and identification of
            a new family of transport proteins
  JOURNAL   Genomics 26 (2), 354-363 (1995)
   PUBMED   7601462
REFERENCE   5  (bases 1 to 3143)
  AUTHORS   Rinchik,E.M., Bultman,S.J., Horsthemke,B., Lee,S.T., Strunk,K.M.,
            Spritz,R.A., Avidano,K.M., Jong,M.T. and Nicholls,R.D.
  TITLE     A gene for the mouse pink-eyed dilution locus and for human type II
            oculocutaneous albinism
  JOURNAL   Nature 361 (6407), 72-76 (1993)
   PUBMED   8421497
REFERENCE   6  (bases 1 to 3143)
  AUTHORS   Thomas,M.G., Zippin,J. and Brooks,B.P.
  TITLE     Oculocutaneous Albinism and Ocular Albinism Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   37053367
REFERENCE   7  (bases 1 to 3143)
  AUTHORS   Lewis,R.A.
  TITLE     Oculocutaneous Albinism Type 2 - RETIRED CHAPTER, FOR HISTORICAL
            REFERENCE ONLY
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301410
REFERENCE   8  (bases 1 to 3143)
  AUTHORS   Ramsay,M., Colman,M.A., Stevens,G., Zwane,E., Kromberg,J.,
            Farrall,M. and Jenkins,T.
  TITLE     The tyrosinase-positive oculocutaneous albinism locus maps to
            chromosome 15q11.2-q12
  JOURNAL   Am J Hum Genet 51 (4), 879-884 (1992)
   PUBMED   1415228
REFERENCE   9  (bases 1 to 3143)
  AUTHORS   Gardner,J.M., Nakatsu,Y., Gondo,Y., Lee,S., Lyon,M.F., King,R.A.
            and Brilliant,M.H.
  TITLE     The mouse pink-eyed dilution gene: association with human
            Prader-Willi and Angelman syndromes
  JOURNAL   Science 257 (5073), 1121-1124 (1992)
   PUBMED   1509264
REFERENCE   10 (bases 1 to 3143)
  AUTHORS   Ludowese,C.J., Thompson,K.J., Sekhon,G.S. and Pauli,R.M.
  TITLE     Absence of predictable phenotypic expression in proximal 15q
            duplications
  JOURNAL   Clin Genet 40 (3), 194-201 (1991)
   PUBMED   1773534
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC135329.12, BC012097.1 and
            M99564.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_000275.2.
            
            Summary: This gene encodes the human homolog of the mouse p
            (pink-eyed dilution) gene. The encoded protein is believed to be an
            integral membrane protein involved in small molecule transport,
            specifically tyrosine, which is a precursor to melanin synthesis.
            It is involved in mammalian pigmentation, where it may control skin
            color variation and act as a determinant of brown or blue eye
            color. Mutations in this gene result in type 2 oculocutaneous
            albinism. Alternative splicing results in multiple transcript
            variants. [provided by RefSeq, Jul 2014].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            
            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 :: M99564.1, SRR14038194.168093.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000354638.8/ ENSP00000346659.3
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-3                 AC135329.12        76791-76793
            4-883               BC012097.1         1-880
            884-2452            M99564.1           823-2391
            2453-2476           BC012097.1         2378-2401
            2477-3131           M99564.1           2416-3070
            3132-3143           BC012097.1         3057-3068
FEATURES             Location/Qualifiers
     source          1..3143
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q12-q13.1"
     gene            1..3143
                     /gene="OCA2"
                     /gene_synonym="BEY; BEY1; BEY2; BOCA; D15S12; EYCL; EYCL2;
                     EYCL3; HCL3; P; PED; SHEP1; SLC13B1"
                     /note="OCA2 melanosomal transmembrane protein"
                     /db_xref="GeneID:4948"
                     /db_xref="HGNC:HGNC:8101"
                     /db_xref="MIM:611409"
     exon            1..92
                     /gene="OCA2"
                     /gene_synonym="BEY; BEY1; BEY2; BOCA; D15S12; EYCL; EYCL2;
                     EYCL3; HCL3; P; PED; SHEP1; SLC13B1"
                     /inference="alignment:Splign:2.1.0"
     exon            93..340
                     /gene="OCA2"
                     /gene_synonym="BEY; BEY1; BEY2; BOCA; D15S12; EYCL; EYCL2;
                     EYCL3; HCL3; P; PED; SHEP1; SLC13B1"
                     /inference="alignment:Splign:2.1.0"
     CDS             114..2630
                     /gene="OCA2"
                     /gene_synonym="BEY; BEY1; BEY2; BOCA; D15S12; EYCL; EYCL2;
                     EYCL3; HCL3; P; PED; SHEP1; SLC13B1"
                     /note="isoform 1 is encoded by transcript variant 1; eye
                     color 2 (central brown); hair color 3 (brown);
                     oculocutaneous albinism II (pink-eye dilution homolog,
                     mouse); eye color 3 (brown); melanocyte-specific
                     transporter protein; total brown iris pigmentation;
                     pink-eyed dilution protein homolog; P-protein"
                     /codon_start=1
                     /product="P protein isoform 1"
                     /protein_id="NP_000266.2"
                     /db_xref="CCDS:CCDS10020.1"
                     /db_xref="GeneID:4948"
                     /db_xref="HGNC:HGNC:8101"
                     /db_xref="MIM:611409"
                     /translation="MHLEGRDGRRYPGAPAVELLQTSVPSGLAELVAGKRRLPRGAGG
                     ADPSHSCPRGAAGQSSWAPAGQEFASFLTKGRSHSSLPQMSSSRSKDSCFTENTPLLR
                     NSLQEKGSRCIPVYHPEFITAEESWEDSSADWERRYLLSREVSGLSASASSEKGDLLD
                     SPHIRLRLSKLRRCVQWLKVMGLFAFVVLCSILFSLYPDQGKLWQLLALSPLENYSVN
                     LSSHVDSTLLQVDLAGALVASGPSRPGREEHIVVELTQADALGSRWRRPQQVTHNWTV
                     YLNPRRSEHSVMSRTFEVLTRETVSISIRASLQQTQAVPLLMAHQYLRGSVETQVTIA
                     TAILAGVYALIIFEIVHRTLAAMLGSLAALAALAVIGDRPSLTHVVEWIDFETLALLF
                     GMMILVAIFSETGFFDYCAVKAYRLSRGRVWAMIIMLCLIAAVLSAFLDNVTTMLLFT
                     PVTIRLCEVLNLDPRQVLIAEVIFTNIGGAATAIGDPPNVIIVSNQELRKMGLDFAGF
                     TAHMFIGICLVLLVCFPLLRLLYWNRKLYNKEPSEIVELKHEIHVWRLTAQRISPASR
                     EETAVRRLLLGKVLALEHLLARRLHTFHRQISQEDKNWETNIQELQKKHRISDGILLA
                     KCLTVLGFVIFMFFLNSFVPGIHLDLGWIAILGAIWLLILADIHDFEIILHRVEWATL
                     LFFAALFVLMEALAHLHLIEYVGEQTALLIKMVPEEQRLIAAIVLVVWVSALASSLID
                     NIPFTATMIPVLLNLSHDPEVGLPAPPLMYALAFGACLGGNGTLIGASANVVCAGIAE
                     QHGYGFSFMEFFRLGFPMMVVSCTVGMCYLLVAHVVVGWN"
     exon            341..439
                     /gene="OCA2"
                     /gene_synonym="BEY; BEY1; BEY2; BOCA; D15S12; EYCL; EYCL2;
                     EYCL3; HCL3; P; PED; SHEP1; SLC13B1"
                     /inference="alignment:Splign:2.1.0"
     exon            440..628
                     /gene="OCA2"
                     /gene_synonym="BEY; BEY1; BEY2; BOCA; D15S12; EYCL; EYCL2;
                     EYCL3; HCL3; P; PED; SHEP1; SLC13B1"
                     /inference="alignment:Splign:2.1.0"
     exon            629..686
                     /gene="OCA2"
                     /gene_synonym="BEY; BEY1; BEY2; BOCA; D15S12; EYCL; EYCL2;
                     EYCL3; HCL3; P; PED; SHEP1; SLC13B1"
                     /inference="alignment:Splign:2.1.0"
     exon            687..759
                     /gene="OCA2"
                     /gene_synonym="BEY; BEY1; BEY2; BOCA; D15S12; EYCL; EYCL2;
                     EYCL3; HCL3; P; PED; SHEP1; SLC13B1"
                     /inference="alignment:Splign:2.1.0"
     exon            760..920
                     /gene="OCA2"
                     /gene_synonym="BEY; BEY1; BEY2; BOCA; D15S12; EYCL; EYCL2;
                     EYCL3; HCL3; P; PED; SHEP1; SLC13B1"
                     /inference="alignment:Splign:2.1.0"
     exon            921..1003
                     /gene="OCA2"
                     /gene_synonym="BEY; BEY1; BEY2; BOCA; D15S12; EYCL; EYCL2;
                     EYCL3; HCL3; P; PED; SHEP1; SLC13B1"
                     /inference="alignment:Splign:2.1.0"
     exon            1004..1157
                     /gene="OCA2"
                     /gene_synonym="BEY; BEY1; BEY2; BOCA; D15S12; EYCL; EYCL2;
                     EYCL3; HCL3; P; PED; SHEP1; SLC13B1"
                     /inference="alignment:Splign:2.1.0"
     exon            1158..1229
                     /gene="OCA2"
                     /gene_synonym="BEY; BEY1; BEY2; BOCA; D15S12; EYCL; EYCL2;
                     EYCL3; HCL3; P; PED; SHEP1; SLC13B1"
                     /inference="alignment:Splign:2.1.0"
     exon            1230..1295
                     /gene="OCA2"
                     /gene_synonym="BEY; BEY1; BEY2; BOCA; D15S12; EYCL; EYCL2;
                     EYCL3; HCL3; P; PED; SHEP1; SLC13B1"
                     /inference="alignment:Splign:2.1.0"
     exon            1296..1352
                     /gene="OCA2"
                     /gene_synonym="BEY; BEY1; BEY2; BOCA; D15S12; EYCL; EYCL2;
                     EYCL3; HCL3; P; PED; SHEP1; SLC13B1"
                     /inference="alignment:Splign:2.1.0"
     exon            1353..1477
                     /gene="OCA2"
                     /gene_synonym="BEY; BEY1; BEY2; BOCA; D15S12; EYCL; EYCL2;
                     EYCL3; HCL3; P; PED; SHEP1; SLC13B1"
                     /inference="alignment:Splign:2.1.0"
     exon            1478..1616
                     /gene="OCA2"
                     /gene_synonym="BEY; BEY1; BEY2; BOCA; D15S12; EYCL; EYCL2;
                     EYCL3; HCL3; P; PED; SHEP1; SLC13B1"
                     /inference="alignment:Splign:2.1.0"
     exon            1617..1749
                     /gene="OCA2"
                     /gene_synonym="BEY; BEY1; BEY2; BOCA; D15S12; EYCL; EYCL2;
                     EYCL3; HCL3; P; PED; SHEP1; SLC13B1"
                     /inference="alignment:Splign:2.1.0"
     exon            1750..1897
                     /gene="OCA2"
                     /gene_synonym="BEY; BEY1; BEY2; BOCA; D15S12; EYCL; EYCL2;
                     EYCL3; HCL3; P; PED; SHEP1; SLC13B1"
                     /inference="alignment:Splign:2.1.0"
     exon            1898..1955
                     /gene="OCA2"
                     /gene_synonym="BEY; BEY1; BEY2; BOCA; D15S12; EYCL; EYCL2;
                     EYCL3; HCL3; P; PED; SHEP1; SLC13B1"
                     /inference="alignment:Splign:2.1.0"
     exon            1956..2064
                     /gene="OCA2"
                     /gene_synonym="BEY; BEY1; BEY2; BOCA; D15S12; EYCL; EYCL2;
                     EYCL3; HCL3; P; PED; SHEP1; SLC13B1"
                     /inference="alignment:Splign:2.1.0"
     exon            2065..2192
                     /gene="OCA2"
                     /gene_synonym="BEY; BEY1; BEY2; BOCA; D15S12; EYCL; EYCL2;
                     EYCL3; HCL3; P; PED; SHEP1; SLC13B1"
                     /inference="alignment:Splign:2.1.0"
     exon            2193..2252
                     /gene="OCA2"
                     /gene_synonym="BEY; BEY1; BEY2; BOCA; D15S12; EYCL; EYCL2;
                     EYCL3; HCL3; P; PED; SHEP1; SLC13B1"
                     /inference="alignment:Splign:2.1.0"
     exon            2253..2357
                     /gene="OCA2"
                     /gene_synonym="BEY; BEY1; BEY2; BOCA; D15S12; EYCL; EYCL2;
                     EYCL3; HCL3; P; PED; SHEP1; SLC13B1"
                     /inference="alignment:Splign:2.1.0"
     exon            2358..2451
                     /gene="OCA2"
                     /gene_synonym="BEY; BEY1; BEY2; BOCA; D15S12; EYCL; EYCL2;
                     EYCL3; HCL3; P; PED; SHEP1; SLC13B1"
                     /inference="alignment:Splign:2.1.0"
     exon            2452..2545
                     /gene="OCA2"
                     /gene_synonym="BEY; BEY1; BEY2; BOCA; D15S12; EYCL; EYCL2;
                     EYCL3; HCL3; P; PED; SHEP1; SLC13B1"
                     /inference="alignment:Splign:2.1.0"
     exon            2546..3143
                     /gene="OCA2"
                     /gene_synonym="BEY; BEY1; BEY2; BOCA; D15S12; EYCL; EYCL2;
                     EYCL3; HCL3; P; PED; SHEP1; SLC13B1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3122..3127
                     /regulatory_class="polyA_signal_sequence"
                     /gene="OCA2"
                     /gene_synonym="BEY; BEY1; BEY2; BOCA; D15S12; EYCL; EYCL2;
                     EYCL3; HCL3; P; PED; SHEP1; SLC13B1"
                     /note="hexamer: AATAAA"
     polyA_site      3143
                     /gene="OCA2"
                     /gene_synonym="BEY; BEY1; BEY2; BOCA; D15S12; EYCL; EYCL2;
                     EYCL3; HCL3; P; PED; SHEP1; SLC13B1"
                     /note="major polyA site"
ORIGIN      
        1 gttcttactt cgaaggctgt gctccgctca ccatccagag cggaggtgcg gaccttaaac
       61 tcactcctgg agaaagatct gcaagtgcgc agagagaaga ctggcagtgg agcatgcatc
      121 tggagggcag agacggcagg cggtaccccg gcgcgccggc ggtggagctc ctgcagacgt
      181 ccgtgcccag cggactcgct gaacttgtgg ccggcaagcg caggcttcct cggggagccg
      241 gtggagctga cccctcgcac tcctgcccca ggggggctgc cgggcagagc tcttgggctc
      301 ctgcaggcca ggagtttgct tcattcctca caaaagggag gtctcactct tctttgcccc
      361 agatgtccag ctccaggtct aaagattcct gctttacaga aaacactcct ttgctgagga
      421 attccttaca ggagaaaggg tcacggtgca tacctgttta ccatccagag ttcatcactg
      481 ctgaagagtc ttgggaagac agctctgctg actgggagcg aagatacctg ctaagcaggg
      541 aggtgtctgg tctgtctgca tctgcctcct ccgagaaggg agaccttctg gacagcccgc
      601 acatccgact ccgtctttcc aagctgaggc gctgtgtgca gtggctgaaa gtcatgggcc
      661 tgtttgcctt tgtggtgctg tgttctattt tgttcagcct atatccggat caaggaaagc
      721 tctggcagct gttggcctta tcaccgctgg agaactactc cgtgaacctt agcagccacg
      781 tggactccac gctgctgcag gtggacctgg caggggccct agtggccagt gggccgagtc
      841 gtcctgggag ggaagagcac atcgtggtgg agctgaccca ggctgacgct ttgggctcca
      901 ggtggcggcg gccacagcag gtcactcaca actggacggt gtatttaaat ccgaggagaa
      961 gcgagcactc agtgatgagc aggacctttg aggtactgac cagagagacg gtgtccatca
     1021 gcatccgggc ctccctgcag cagacccagg ctgtccctct tttgatggct catcagtacc
     1081 tccgcggaag tgtagaaacc caggtgacca tcgcgacggc catcctcgcg ggcgtctacg
     1141 cgctgatcat atttgagatc gtgcacagaa ctctggcggc catgctgggt tcccttgcag
     1201 cactggcagc actggctgtg attggcgata gacccagcct gacccatgtg gtggagtgga
     1261 ttgattttga gacgctggcc ctgctgtttg gcatgatgat cttagtagcc atattttcag
     1321 aaacgggatt tttcgattat tgtgctgtaa aggcataccg gctctcccgg ggacgggtgt
     1381 gggccatgat catcatgctc tgtctcatcg cggccgtcct ctctgccttc ttggacaacg
     1441 tcaccaccat gctcctcttc acgcctgtga ccataaggtt gtgtgaggtg ctcaaccttg
     1501 atccaagaca agtcctgatt gcagaagtga tcttcacaaa cattggagga gctgccactg
     1561 ccatcgggga ccctccaaat gtcattattg tttccaacca agagctgagg aagatgggcc
     1621 tggactttgc cggattcact gcacacatgt tcattgggat ttgccttgtt ctcctggtct
     1681 gctttccgct cctcagactc ctttactgga acagaaagct ttataacaag gaacccagtg
     1741 agattgttga actgaagcac gagattcacg tctggcgcct gactgctcag cgcatcagcc
     1801 cggccagccg cgaggagaca gctgtgcgcc gcctgctgct ggggaaggtg ctggcactgg
     1861 agcacctgct cgcccggagg ctgcacacct tccacagaca gatctcacag gaggacaaaa
     1921 attgggagac caatatccaa gaactccaaa aaaagcatag gatatctgac gggattctgc
     1981 tcgccaaatg cctgacagtg ttgggatttg ttatcttcat gtttttcctc aattcgtttg
     2041 tccctggcat tcatcttgat cttggatgga ttgctattct gggtgccatc tggttgctaa
     2101 ttttagctga tattcatgat tttgagataa ttctacacag agtggaatgg gcaacccttc
     2161 tgttttttgc agcgctcttt gttctgatgg aggcattggc acatctccac ttaatagaat
     2221 atgttggaga acaaactgct ttgctaataa agatggtccc agaggagcag cgcctcatag
     2281 ccgccattgt cctggtggtg tgggtctcag ccctggcgtc gtccctgatt gacaacatcc
     2341 cgttcactgc taccatgatt cccgtgctcc tgaacctgag ccacgaccct gaggttggcc
     2401 tgcccgcacc gccgctcatg tatgccctgg ccttcggtgc ttgcctggga ggtaacggga
     2461 cactgattgg cgcgtcggca aacgtcgtgt gtgcagggat tgcagaacag catggatatg
     2521 ggttctcctt catggaattt ttcaggctgg gcttcccaat gatggttgtg tcctgcactg
     2581 ttgggatgtg ttatctcctt gtggctcatg tggtggtggg atggaattaa tagacatcca
     2641 tctattgctc gaagactaaa ggaaacttca tccatcacaa cccattagtc ataaaactac
     2701 cctgacccca ctgtttgaag aagaaaaggt gcttaccctg gagatgctac agagacacag
     2761 tggaatagac cttgacacta acactctaat tcaagcgaat gttggaacac catgacctcc
     2821 tctgtgtgtc ctttctcccc aaggacaaaa tgtagaaaga tgtgagataa cttactcaag
     2881 attcccctcc agaaaaatac gtatgtttaa aaacccttcc tgctatacat aggaaaagac
     2941 acacatccac ctaaaattga ctgtactgtt taactgtcaa ttctcctgag gctaaacaca
     3001 gtttgttttt cttgtaatca cttttcatgt taaaataatc agcattcaaa ttgtatgctt
     3061 tctgaatata gactttctgg gaaaaggttt actgctcgta aggaaacatt ttatgtatta
     3121 aaataaactg ttccttgata aaa
//
