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Q04671

- P_HUMAN

UniProt

Q04671 - P_HUMAN

Protein

P protein

Gene

OCA2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 152 (01 Oct 2014)
      Sequence version 2 (21 Mar 2006)
      Previous versions | rss
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    Functioni

    Could be involved in the transport of tyrosine, the precursor to melanin synthesis, within the melanocyte. Regulates the pH of melanosome and the melanosome maturation. One of the components of the mammalian pigmentary system. Seems to regulate the post-translational processing of tyrosinase, which catalyzes the limiting reaction in melanin synthesis. May serve as a key control point at which ethnic skin color variation is determined. Major determinant of brown and/or blue eye color.5 Publications

    GO - Molecular functioni

    1. L-tyrosine transmembrane transporter activity Source: ProtInc
    2. protein binding Source: UniProtKB
    3. transporter activity Source: ProtInc

    GO - Biological processi

    1. cell proliferation Source: Ensembl
    2. eye pigment biosynthetic process Source: ProtInc
    3. melanin biosynthetic process Source: Ensembl
    4. melanocyte differentiation Source: Ensembl
    5. spermatid development Source: Ensembl
    6. tyrosine transport Source: GOC

    Keywords - Biological processi

    Transport

    Protein family/group databases

    TCDBi2.A.45.2.1. the arsenite-antimonite (arsb) efflux family.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    P protein
    Alternative name(s):
    Melanocyte-specific transporter protein
    Pink-eyed dilution protein homolog
    Gene namesi
    Name:OCA2
    Synonyms:D15S12, P
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 15

    Organism-specific databases

    HGNCiHGNC:8101. OCA2.

    Subcellular locationi

    Melanosome membrane 1 Publication; Multi-pass membrane protein 1 Publication

    GO - Cellular componenti

    1. cytoplasm Source: ProtInc
    2. endoplasmic reticulum membrane Source: UniProtKB
    3. endosome membrane Source: UniProtKB
    4. integral component of membrane Source: ProtInc
    5. lysosomal membrane Source: UniProtKB
    6. melanosome membrane Source: UniProtKB

    Keywords - Cellular componenti

    Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Albinism, oculocutaneous, 2 (OCA2) [MIM:203200]: An autosomal recessive disorder in which the biosynthesis of melanin pigment is reduced in skin, hair, and eyes. Although affected infants may appear at birth to have complete absence of melanin pigment, most patients acquire small amounts of pigment with age. Visual anomalies include decreased acuity and nystagmus. The phenotype is highly variable. The hair of affected individuals may turn darker with age, and pigmented nevi or freckles may be seen. African and African American individuals may have yellow hair and blue-gray or hazel irides. One phenotypic variant, 'brown OCA,' has been described in African and African American populations and is characterized by light brown hair and skin color and gray to tan irides.10 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti10 – 101R → W in OCA2. 1 Publication
    VAR_020622
    Natural varianti27 – 271G → R in OCA2.
    Corresponds to variant rs61738394 [ dbSNP | Ensembl ].
    VAR_006117
    Natural varianti86 – 861S → R in OCA2. 1 Publication
    VAR_006118
    Natural varianti112 – 1121C → F in OCA2. 1 Publication
    VAR_006119
    Natural varianti198 – 1981P → L in OCA2. 1 Publication
    Corresponds to variant rs183487020 [ dbSNP | Ensembl ].
    VAR_020623
    Natural varianti206 – 2116Missing in OCA2; severe.
    VAR_006120
    Natural varianti211 – 2111P → L in OCA2. 1 Publication
    VAR_020624
    Natural varianti273 – 2742NW → KV in OCA2.
    VAR_006122
    Natural varianti290 – 2901R → G in OCA2. 2 Publications
    VAR_020625
    Natural varianti334 – 3341A → V in OCA2. 1 Publication
    VAR_020626
    Natural varianti368 – 3681A → V in OCA2. 1 Publication
    Corresponds to variant rs61745150 [ dbSNP | Ensembl ].
    VAR_006124
    Natural varianti385 – 3851F → I in OCA2; severe.
    Corresponds to variant rs137956605 [ dbSNP | Ensembl ].
    VAR_006125
    Natural varianti394 – 3941M → I in OCA2. 1 Publication
    VAR_020630
    Natural varianti395 – 3951M → L in OCA2; severe.
    VAR_006126
    Natural varianti404 – 4041T → M in OCA2.
    Corresponds to variant rs144812594 [ dbSNP | Ensembl ].
    VAR_006127
    Natural varianti419 – 4191R → W in OCA2.
    Corresponds to variant rs143218168 [ dbSNP | Ensembl ].
    VAR_006129
    Natural varianti425 – 4251Missing in OCA2; mild.
    VAR_006130
    Natural varianti443 – 4431V → I in OCA2. 3 Publications
    Corresponds to variant rs28934272 [ dbSNP | Ensembl ].
    VAR_006132
    Natural varianti446 – 4461M → V in OCA2; mild; AROA form.
    VAR_006133
    Natural varianti473 – 4731I → S in OCA2.
    VAR_006134
    Natural varianti476 – 4761N → D in OCA2. 1 Publication
    VAR_043700
    Natural varianti481 – 4811A → T in OCA2. 2 Publications
    Corresponds to variant rs74653330 [ dbSNP | Ensembl ].
    VAR_007940
    Natural varianti489 – 4891N → D in OCA2; mild/severe. 1 Publication
    VAR_006135
    Natural varianti549 – 5491H → Q in OCA2.
    VAR_006136
    Natural varianti592 – 5921T → I in OCA2. 1 Publication
    Corresponds to variant rs1800413 [ dbSNP | Ensembl ].
    VAR_006137
    Natural varianti614 – 6141K → E in OCA2. 1 Publication
    VAR_020631
    Natural varianti614 – 6141K → N in OCA2.
    VAR_006138
    Natural varianti617 – 6171I → L in OCA2. 1 Publication
    VAR_020632
    Natural varianti652 – 6521W → R in OCA2.
    VAR_006140
    Natural varianti679 – 6791W → C in OCA2. 2 Publications
    VAR_020634
    Natural varianti679 – 6791W → R in OCA2; severe.
    VAR_006141
    Natural varianti720 – 7201R → C in OCA2. 1 Publication
    VAR_020636
    Natural varianti724 – 7241A → P in OCA2. 1 Publication
    VAR_006143
    Natural varianti736 – 7361S → L in OCA2.
    VAR_006144
    Natural varianti743 – 7431P → L in OCA2 and unclassified OCA. 2 Publications
    VAR_006145
    Natural varianti775 – 7751G → R in OCA2. 1 Publication
    VAR_043701
    Natural varianti787 – 7871A → V in OCA2. 1 Publication
    VAR_006146
    Natural varianti795 – 7951G → R in OCA2. 1 Publication
    VAR_020637
    Natural varianti799 – 7991Q → H in OCA2. 1 Publication
    VAR_020638
    Natural varianti827 – 8271Y → H in OCA2. 1 Publication
    VAR_043702
    Natural varianti833 – 8331Missing in OCA2. 1 Publication
    VAR_021682

    Keywords - Diseasei

    Albinism, Disease mutation

    Organism-specific databases

    MIMi203200. phenotype.
    227220. phenotype.
    Orphaneti72. Angelman syndrome.
    79432. Oculocutaneous albinism type 2.
    98754. Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15.
    177901. Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1.
    177904. Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2.
    PharmGKBiPA31890.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 838838P proteinPRO_0000172509Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi214 – 2141N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi218 – 2181N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi273 – 2731N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi442 – 4421N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi781 – 7811N-linked (GlcNAc...)Sequence Analysis

    Keywords - PTMi

    Glycoprotein

    Proteomic databases

    PaxDbiQ04671.
    PRIDEiQ04671.

    PTM databases

    PhosphoSiteiQ04671.

    Expressioni

    Inductioni

    Expression is under the control of an enhancer element that is encoded in an intron of the close-by HERC2 gene. The enhancer element containing the T-allele of the polymorphism rs12913832 mediates binding of the transcription factors HLTF, LEF1 and MITF and increases OCA2 expression. In contrast, transcription factor binding and OCA2 expression are reduced in carriers of the C-allele of polymorphism rs12913832. Thus, people homozygous for the C-allele have light-colored eyes, while people homozygous for the T-allele of polymorphism rs12913832 most often have brown eyes.3 Publications

    Gene expression databases

    ArrayExpressiQ04671.
    BgeeiQ04671.
    CleanExiHS_OCA2.
    GenevestigatoriQ04671.

    Organism-specific databases

    HPAiHPA036403.

    Interactioni

    Protein-protein interaction databases

    BioGridi111002. 1 interaction.
    IntActiQ04671. 1 interaction.
    STRINGi9606.ENSP00000346659.

    Structurei

    3D structure databases

    ProteinModelPortaliQ04671.
    SMRiQ04671. Positions 328-522, 621-830.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 179179CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini198 – 330133ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini348 – 3536CytoplasmicSequence Analysis
    Topological domaini371 – 38414ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini402 – 42322CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini441 – 51373ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini531 – 62090CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini638 – 64710ExtracellularSequence Analysis
    Topological domaini665 – 67915CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini697 – 72024ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini738 – 76023CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini778 – 81740ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini835 – 8384CytoplasmicSequence Analysis

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei180 – 19718HelicalSequence AnalysisAdd
    BLAST
    Transmembranei331 – 34717HelicalSequence AnalysisAdd
    BLAST
    Transmembranei354 – 37017HelicalSequence AnalysisAdd
    BLAST
    Transmembranei385 – 40117HelicalSequence AnalysisAdd
    BLAST
    Transmembranei424 – 44017HelicalSequence AnalysisAdd
    BLAST
    Transmembranei514 – 53017HelicalSequence AnalysisAdd
    BLAST
    Transmembranei621 – 63717HelicalSequence AnalysisAdd
    BLAST
    Transmembranei648 – 66417HelicalSequence AnalysisAdd
    BLAST
    Transmembranei680 – 69617HelicalSequence AnalysisAdd
    BLAST
    Transmembranei721 – 73717HelicalSequence AnalysisAdd
    BLAST
    Transmembranei761 – 77717HelicalSequence AnalysisAdd
    BLAST
    Transmembranei818 – 83417HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiCOG1055.
    HOGENOMiHOG000047303.
    HOVERGENiHBG008343.
    InParanoidiQ04671.
    OMAiQQVTHNW.
    OrthoDBiEOG738040.
    PhylomeDBiQ04671.
    TreeFamiTF323556.

    Family and domain databases

    InterProiIPR004680. Cit_transptr-like_dom.
    [Graphical view]
    PfamiPF03600. CitMHS. 1 hit.
    [Graphical view]

    Sequences (3)i

    Sequence statusi: Complete.

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q04671-1) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MHLEGRDGRR YPGAPAVELL QTSVPSGLAE LVAGKRRLPR GAGGADPSHS    50
    CPRGAAGQSS WAPAGQEFAS FLTKGRSHSS LPQMSSSRSK DSCFTENTPL 100
    LRNSLQEKGS RCIPVYHPEF ITAEESWEDS SADWERRYLL SREVSGLSAS 150
    ASSEKGDLLD SPHIRLRLSK LRRCVQWLKV MGLFAFVVLC SILFSLYPDQ 200
    GKLWQLLALS PLENYSVNLS SHVDSTLLQV DLAGALVASG PSRPGREEHI 250
    VVELTQADAL GSRWRRPQQV THNWTVYLNP RRSEHSVMSR TFEVLTRETV 300
    SISIRASLQQ TQAVPLLMAH QYLRGSVETQ VTIATAILAG VYALIIFEIV 350
    HRTLAAMLGS LAALAALAVI GDRPSLTHVV EWIDFETLAL LFGMMILVAI 400
    FSETGFFDYC AVKAYRLSRG RVWAMIIMLC LIAAVLSAFL DNVTTMLLFT 450
    PVTIRLCEVL NLDPRQVLIA EVIFTNIGGA ATAIGDPPNV IIVSNQELRK 500
    MGLDFAGFTA HMFIGICLVL LVCFPLLRLL YWNRKLYNKE PSEIVELKHE 550
    IHVWRLTAQR ISPASREETA VRRLLLGKVL ALEHLLARRL HTFHRQISQE 600
    DKNWETNIQE LQKKHRISDG ILLAKCLTVL GFVIFMFFLN SFVPGIHLDL 650
    GWIAILGAIW LLILADIHDF EIILHRVEWA TLLFFAALFV LMEALAHLHL 700
    IEYVGEQTAL LIKMVPEEQR LIAAIVLVVW VSALASSLID NIPFTATMIP 750
    VLLNLSHDPE VGLPAPPLMY ALAFGACLGG NGTLIGASAN VVCAGIAEQH 800
    GYGFSFMEFF RLGFPMMVVS CTVGMCYLLV AHVVVGWN 838
    Length:838
    Mass (Da):92,850
    Last modified:March 21, 2006 - v2
    Checksum:iA6158B9E55BD7199
    GO
    Isoform 2 (identifier: Q04671-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         349-372: Missing.

    Show »
    Length:814
    Mass (Da):90,520
    Checksum:i3AFFDD314F878F2A
    GO
    Isoform 3 (identifier: Q04671-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         652-668: WIAILGAIWLLILADIH → GLGLVQAGRYYLSTPES
         669-838: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:668
    Mass (Da):74,312
    Checksum:iA6E50C6F1276BC4F
    GO

    Polymorphismi

    Genetic variants in OCA2 define the skin/hair/eye pigmentation variation locus 1 (SHEP1) [MIMi:227220]; also known as skin/hair/eye pigmentation type 1, blue/nonblue eyes or skin/hair/eye pigmentation type 1, blue/brown eyes or skin/hair/eye pigmentation type 1, blond/brown hair or eye color, brown/blue or eye color, blue/nonblue or eye color type 3 (EYCL3) or brown eye color type 2 (BEY2) or hair color type 3 (HCL3). Hair, eye and skin pigmentation are among the most visible examples of human phenotypic variation, with a broad normal range that is subject to substantial geographic stratification. In the case of skin, individuals tend to have lighter pigmentation with increasing distance from the equator. By contrast, the majority of variation in human eye and hair color is found among individuals of European ancestry, with most other human populations fixed for brown eyes and black hair. OCA2 polymorphisms may act as a penetrance modifier of the risk of malignant melanoma.

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti10 – 101R → W in OCA2. 1 Publication
    VAR_020622
    Natural varianti27 – 271G → R in OCA2.
    Corresponds to variant rs61738394 [ dbSNP | Ensembl ].
    VAR_006117
    Natural varianti86 – 861S → R in OCA2. 1 Publication
    VAR_006118
    Natural varianti112 – 1121C → F in OCA2. 1 Publication
    VAR_006119
    Natural varianti198 – 1981P → L in OCA2. 1 Publication
    Corresponds to variant rs183487020 [ dbSNP | Ensembl ].
    VAR_020623
    Natural varianti206 – 2116Missing in OCA2; severe.
    VAR_006120
    Natural varianti211 – 2111P → L in OCA2. 1 Publication
    VAR_020624
    Natural varianti241 – 2411P → R.
    Corresponds to variant rs2305253 [ dbSNP | Ensembl ].
    VAR_022019
    Natural varianti257 – 2571A → D.2 Publications
    Corresponds to variant rs1050968 [ dbSNP | Ensembl ].
    VAR_006121
    Natural varianti266 – 2661R → W.
    Corresponds to variant rs33929465 [ dbSNP | Ensembl ].
    VAR_032094
    Natural varianti273 – 2742NW → KV in OCA2.
    VAR_006122
    Natural varianti290 – 2901R → G in OCA2. 2 Publications
    VAR_020625
    Natural varianti305 – 3051R → W Polymorphism associated with nonblue eye color; could be a biomarker of cutaneous cancer risk. 4 Publications
    Corresponds to variant rs1800401 [ dbSNP | Ensembl ].
    VAR_006123
    Natural varianti334 – 3341A → V in OCA2. 1 Publication
    VAR_020626
    Natural varianti336 – 3361A → V.
    Corresponds to variant rs34010619 [ dbSNP | Ensembl ].
    VAR_032095
    Natural varianti350 – 3501V → M in unclassified OCA. 1 Publication
    VAR_020627
    Natural varianti368 – 3681A → V in OCA2. 1 Publication
    Corresponds to variant rs61745150 [ dbSNP | Ensembl ].
    VAR_006124
    Natural varianti370 – 3701I → T in unclassified OCA. 1 Publication
    Corresponds to variant rs34731820 [ dbSNP | Ensembl ].
    VAR_020628
    Natural varianti385 – 3851F → I in OCA2; severe.
    Corresponds to variant rs137956605 [ dbSNP | Ensembl ].
    VAR_006125
    Natural varianti387 – 3871T → M.1 Publication
    Corresponds to variant rs150335311 [ dbSNP | Ensembl ].
    VAR_020629
    Natural varianti394 – 3941M → I in OCA2. 1 Publication
    VAR_020630
    Natural varianti395 – 3951M → L in OCA2; severe.
    VAR_006126
    Natural varianti404 – 4041T → M in OCA2.
    Corresponds to variant rs144812594 [ dbSNP | Ensembl ].
    VAR_006127
    Natural varianti419 – 4191R → Q Polymorphism associated with green/hazel eye color. 5 Publications
    Corresponds to variant rs1800407 [ dbSNP | Ensembl ].
    VAR_006128
    Natural varianti419 – 4191R → W in OCA2.
    Corresponds to variant rs143218168 [ dbSNP | Ensembl ].
    VAR_006129
    Natural varianti425 – 4251Missing in OCA2; mild.
    VAR_006130
    Natural varianti440 – 4401L → F.1 Publication
    Corresponds to variant rs1800408 [ dbSNP | Ensembl ].
    VAR_007939
    Natural varianti440 – 4401L → H.
    VAR_006131
    Natural varianti443 – 4431V → I in OCA2. 3 Publications
    Corresponds to variant rs28934272 [ dbSNP | Ensembl ].
    VAR_006132
    Natural varianti446 – 4461M → V in OCA2; mild; AROA form.
    VAR_006133
    Natural varianti473 – 4731I → S in OCA2.
    VAR_006134
    Natural varianti476 – 4761N → D in OCA2. 1 Publication
    VAR_043700
    Natural varianti481 – 4811A → T in OCA2. 2 Publications
    Corresponds to variant rs74653330 [ dbSNP | Ensembl ].
    VAR_007940
    Natural varianti489 – 4891N → D in OCA2; mild/severe. 1 Publication
    VAR_006135
    Natural varianti519 – 5191V → A.
    Corresponds to variant rs41446944 [ dbSNP | Ensembl ].
    VAR_032096
    Natural varianti549 – 5491H → Q in OCA2.
    VAR_006136
    Natural varianti560 – 5601R → H.
    Corresponds to variant rs35110389 [ dbSNP | Ensembl ].
    VAR_032097
    Natural varianti592 – 5921T → I in OCA2. 1 Publication
    Corresponds to variant rs1800413 [ dbSNP | Ensembl ].
    VAR_006137
    Natural varianti614 – 6141K → E in OCA2. 1 Publication
    VAR_020631
    Natural varianti614 – 6141K → N in OCA2.
    VAR_006138
    Natural varianti615 – 6151H → R.2 Publications
    Corresponds to variant rs1800414 [ dbSNP | Ensembl ].
    VAR_006139
    Natural varianti617 – 6171I → L in OCA2. 1 Publication
    VAR_020632
    Natural varianti652 – 6521W → R in OCA2.
    VAR_006140
    Natural varianti678 – 6781E → K in unclassified OCA. 1 Publication
    VAR_020633
    Natural varianti679 – 6791W → C in OCA2. 2 Publications
    VAR_020634
    Natural varianti679 – 6791W → R in OCA2; severe.
    VAR_006141
    Natural varianti688 – 6881L → F in unclassified OCA. 1 Publication
    VAR_020635
    Natural varianti720 – 7201R → C in OCA2. 1 Publication
    VAR_020636
    Natural varianti722 – 7221I → T.1 Publication
    Corresponds to variant rs1800417 [ dbSNP | Ensembl ].
    VAR_006142
    Natural varianti724 – 7241A → P in OCA2. 1 Publication
    VAR_006143
    Natural varianti736 – 7361S → L in OCA2.
    VAR_006144
    Natural varianti743 – 7431P → L in OCA2 and unclassified OCA. 2 Publications
    VAR_006145
    Natural varianti773 – 7731A → T in a breast cancer sample; somatic mutation. 1 Publication
    VAR_036468
    Natural varianti775 – 7751G → R in OCA2. 1 Publication
    VAR_043701
    Natural varianti787 – 7871A → V in OCA2. 1 Publication
    VAR_006146
    Natural varianti795 – 7951G → R in OCA2. 1 Publication
    VAR_020637
    Natural varianti799 – 7991Q → H in OCA2. 1 Publication
    VAR_020638
    Natural varianti827 – 8271Y → H in OCA2. 1 Publication
    VAR_043702
    Natural varianti833 – 8331Missing in OCA2. 1 Publication
    VAR_021682

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei349 – 37224Missing in isoform 2. 1 PublicationVSP_012284Add
    BLAST
    Alternative sequencei652 – 66817WIAIL…LADIH → GLGLVQAGRYYLSTPES in isoform 3. 1 PublicationVSP_012285Add
    BLAST
    Alternative sequencei669 – 838170Missing in isoform 3. 1 PublicationVSP_012286Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    M99564 mRNA. Translation: AAA36477.1.
    U19170
    , U19153, U19154, U19156, U19158, U19160, U19162, U19164, U19166, U19169, U19168, U19167, U19165, U19163, U19161, U19159, U19157, U19155 Genomic DNA. Translation: AAC13783.1.
    U19176
    , U19153, U19154, U19155, U19157, U19158, U19159, U19160, U19161, U19162, U19163, U19164, U19165, U19166, U19167, U19168, U19169, U19171, U19172, U19173, U19174, U19175 Genomic DNA. Translation: AAC13784.1.
    BC012097 mRNA. Translation: AAH12097.1.
    M97901 mRNA. Translation: AAA36430.1.
    CCDSiCCDS10020.1. [Q04671-1]
    PIRiA57173.
    S28911.
    RefSeqiNP_000266.2. NM_000275.2. [Q04671-1]
    XP_005268316.1. XM_005268259.1. [Q04671-2]
    UniGeneiHs.654411.

    Genome annotation databases

    EnsembliENST00000353809; ENSP00000261276; ENSG00000104044. [Q04671-2]
    ENST00000354638; ENSP00000346659; ENSG00000104044. [Q04671-1]
    GeneIDi4948.
    KEGGihsa:4948.
    UCSCiuc001zbh.4. human. [Q04671-1]
    uc010ayv.3. human. [Q04671-2]

    Polymorphism databases

    DMDMi90110050.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Web resourcesi

    Mutations of the P gene

    Retina International's Scientific Newsletter

    Albinism database (ADB)

    P mutations

    Protein Spotlight

    Questioning colour - Issue 54 of January 2005

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    M99564 mRNA. Translation: AAA36477.1 .
    U19170
    , U19153 , U19154 , U19156 , U19158 , U19160 , U19162 , U19164 , U19166 , U19169 , U19168 , U19167 , U19165 , U19163 , U19161 , U19159 , U19157 , U19155 Genomic DNA. Translation: AAC13783.1 .
    U19176
    , U19153 , U19154 , U19155 , U19157 , U19158 , U19159 , U19160 , U19161 , U19162 , U19163 , U19164 , U19165 , U19166 , U19167 , U19168 , U19169 , U19171 , U19172 , U19173 , U19174 , U19175 Genomic DNA. Translation: AAC13784.1 .
    BC012097 mRNA. Translation: AAH12097.1 .
    M97901 mRNA. Translation: AAA36430.1 .
    CCDSi CCDS10020.1. [Q04671-1 ]
    PIRi A57173.
    S28911.
    RefSeqi NP_000266.2. NM_000275.2. [Q04671-1 ]
    XP_005268316.1. XM_005268259.1. [Q04671-2 ]
    UniGenei Hs.654411.

    3D structure databases

    ProteinModelPortali Q04671.
    SMRi Q04671. Positions 328-522, 621-830.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 111002. 1 interaction.
    IntActi Q04671. 1 interaction.
    STRINGi 9606.ENSP00000346659.

    Protein family/group databases

    TCDBi 2.A.45.2.1. the arsenite-antimonite (arsb) efflux family.

    PTM databases

    PhosphoSitei Q04671.

    Polymorphism databases

    DMDMi 90110050.

    Proteomic databases

    PaxDbi Q04671.
    PRIDEi Q04671.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000353809 ; ENSP00000261276 ; ENSG00000104044 . [Q04671-2 ]
    ENST00000354638 ; ENSP00000346659 ; ENSG00000104044 . [Q04671-1 ]
    GeneIDi 4948.
    KEGGi hsa:4948.
    UCSCi uc001zbh.4. human. [Q04671-1 ]
    uc010ayv.3. human. [Q04671-2 ]

    Organism-specific databases

    CTDi 4948.
    GeneCardsi GC15M028000.
    GeneReviewsi OCA2.
    H-InvDB HIX0012054.
    HGNCi HGNC:8101. OCA2.
    HPAi HPA036403.
    MIMi 203200. phenotype.
    227220. phenotype.
    611409. gene.
    neXtProti NX_Q04671.
    Orphaneti 72. Angelman syndrome.
    79432. Oculocutaneous albinism type 2.
    98754. Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15.
    177901. Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1.
    177904. Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2.
    PharmGKBi PA31890.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG1055.
    HOGENOMi HOG000047303.
    HOVERGENi HBG008343.
    InParanoidi Q04671.
    OMAi QQVTHNW.
    OrthoDBi EOG738040.
    PhylomeDBi Q04671.
    TreeFami TF323556.

    Miscellaneous databases

    GeneWikii OCA2.
    GenomeRNAii 4948.
    NextBioi 19061.
    PROi Q04671.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q04671.
    Bgeei Q04671.
    CleanExi HS_OCA2.
    Genevestigatori Q04671.

    Family and domain databases

    InterProi IPR004680. Cit_transptr-like_dom.
    [Graphical view ]
    Pfami PF03600. CitMHS. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "A gene for the mouse pink-eyed dilution locus and for human type II oculocutaneous albinism."
      Rinchik E.M., Bultman S.J., Horsthemke B., Lee S.-T., Strunk K.M., Spritz R.A., Avidano K.A., Jong M.T.C., Nicholls R.D.
      Nature 361:72-76(1993) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 3), VARIANT ASP-257.
    2. "Organization and sequence of the human P gene and identification of a new family of transport proteins."
      Lee S.-T., Nicholls R.D., Jong M.T.C., Fukai K., Spritz R.A.
      Genomics 26:354-363(1995) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORMS 1 AND 3), FUNCTION, SUBCELLULAR LOCATION, VARIANTS TRP-305; GLN-419; PHE-440; ARG-615 AND THR-722.
    3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
      Tissue: Skin.
    4. "The mouse pink-eyed dilution gene: association with human Prader-Willi and Angelman syndromes."
      Gardner J.M., Nakatsu Y., Gondo Y., Lee S., Lyon M.F., King R.A., Brilliant M.H.
      Science 257:1121-1124(1992) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 288-419, DISEASE.
      Tissue: Skin.
    5. "The mouse p (pink-eyed dilution) and human P genes, oculocutaneous albinism type 2 (OCA2), and melanosomal pH."
      Brilliant M.H.
      Pigment Cell Res. 14:86-93(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION.
    6. "Inverse correlation between pink-eyed dilution protein expression and induction of melanogenesis by bafilomycin A1."
      Manga P., Orlow S.J.
      Pigment Cell Res. 14:362-367(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: POSSIBLE INVOLVEMENT IN SKIN COLOR VARIATION.
    7. "Eye colour: portals into pigmentation genes and ancestry."
      Sturm R.A., Frudakis T.N.
      Trends Genet. 20:327-332(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION.
    8. "Molecular basis of albinism: mutations and polymorphisms of pigmentation genes associated with albinism."
      Oetting W.S., King R.A.
      Hum. Mutat. 13:99-115(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: REVIEW ON OCA2 VARIANTS.
    9. "HERC2 rs12913832 modulates human pigmentation by attenuating chromatin-loop formation between a long-range enhancer and the OCA2 promoter."
      Visser M., Kayser M., Palstra R.J.
      Genome Res. 22:446-455(2012) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, INDUCTION.
    10. "Diverse mutations of the P gene among African-Americans with type II (tyrosinase-positive) oculocutaneous albinism (OCA2)."
      Lee S.-T., Nicholls R.D., Schnur R.E., Guida L.C., Lu-Kuo J., Spinner N.B., Zackai E.H., Spritz R.A.
      Hum. Mol. Genet. 3:2047-2051(1994) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS OCA2.
    11. "Frequent intragenic deletion of the P gene in Tanzanian patients with type II oculocutaneous albinism (OCA2)."
      Spritz R.A., Fukai K., Holmes S.A., Luande J.
      Am. J. Hum. Genet. 56:1320-1323(1995) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS OCA2.
    12. Cited for: VARIANTS OCA2.
    13. "Mutations of the human P gene associated with type II oculocutaneous albinism (OCA2)."
      Oetting W.S., Gardner J.M., Fryer J.P., Ching A., Durham-Pierre D., King R.A., Brilliant M.H.
      Hum. Mutat. 12:434-434(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS OCA2 ARG-86; PHE-112; VAL-368; ILE-592; PRO-724 AND VAL-787, VARIANT ASP-257.
    14. "Novel and recurrent mutations in the tyrosinase gene and the P gene in the German albino population."
      Passmore L.A., Kaesmann-Kellner B., Weber B.H.F.
      Hum. Genet. 105:200-210(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS OCA2 GLY-290; ILE-443; GLU-614; LEU-617; CYS-679; CYS-720; ARG-795 AND VAL-833 DEL, VARIANTS TRP-305 AND GLN-419.
    15. "Identification of P gene mutations in individuals with oculocutaneous albinism in sub-Saharan Africa."
      Kerr R., Stevens G., Manga P., Salm S., John P., Haw T., Ramsay M.
      Hum. Mutat. 15:166-172(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT OCA2 VAL-334, VARIANTS UNCLASSIFIED OCA MET-350; THR-370; LYS-678; PHE-688 AND LEU-743.
    16. "P gene as an inherited biomarker of human eye color."
      Rebbeck T.R., Kanetsky P.A., Walker A.H., Holmes R., Halpern A.C., Schuchter L.M., Elder D.E., Guerry D.
      Cancer Epidemiol. Biomarkers Prev. 11:782-784(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS TRP-305 AND GLN-419, INVOLVEMENT IN DETERMINATION OF EYE COLOR.
    17. "MC1R mutations modify the classic phenotype of oculocutaneous albinism type 2 (OCA2)."
      King R.A., Willaert R.K., Schmidt R.M., Pietsch J., Savage S., Brott M.J., Fryer J.P., Summers C.G., Oetting W.S.
      Am. J. Hum. Genet. 73:638-645(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS OCA2 GLY-290; ILE-443; ASP-489; CYS-679 AND LEU-743.
    18. "A novel P gene missense mutation in a Japanese patient with oculocutaneous albinism type II (OCA2)."
      Kato A., Fukai K., Oiso N., Hosomi N., Saitoh S., Wada T., Shimizu H., Ishii M.
      J. Dermatol. Sci. 31:189-192(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS OCA2 THR-481 AND HIS-799.
    19. "Six novel P gene mutations and oculocutaneous albinism type 2 frequency in Japanese albino patients."
      Suzuki T., Miyamura Y., Matsunaga J., Shimizu H., Kawachi Y., Ohyama N., Ishikawa O., Ishikawa T., Terao H., Tomita Y.
      J. Invest. Dermatol. 120:781-783(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS OCA2 TRP-10; LEU-198; LEU-211; ILE-394 AND THR-481, VARIANTS MET-387 AND ARG-615.
    20. Cited for: VARIANTS TRP-305 AND GLN-419, INVOLVEMENT IN SUSCEPTIBILITY TO MELANOMA.
    21. "A three-single-nucleotide polymorphism haplotype in intron 1 of OCA2 explains most human eye-color variation."
      Duffy D.L., Montgomery G.W., Chen W., Zhao Z.Z., Le L., James M.R., Hayward N.K., Martin N.G., Sturm R.A.
      Am. J. Hum. Genet. 80:241-252(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: INVOLVEMENT IN SHEP1.
    22. Cited for: VARIANT [LARGE SCALE ANALYSIS] THR-773.
    23. Cited for: INVOLVEMENT IN SHEP1.
    24. "Prenatal diagnosis of oculocutaneous albinism type II and novel mutations in two Chinese families."
      Hongyi L., Haiyun W., Hui Z., Qing W., Honglei D., Shu M., Weiying J.
      Prenat. Diagn. 27:502-506(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS OCA2 ILE-443; ASP-476; ARG-775 AND HIS-827.
    25. Cited for: INVOLVEMENT IN SHEP1.
    26. "A single SNP in an evolutionary conserved region within intron 86 of the HERC2 gene determines human blue-brown eye color."
      Sturm R.A., Duffy D.L., Zhao Z.Z., Leite F.P.M., Stark M.S., Hayward N.K., Martin N.G., Montgomery G.W.
      Am. J. Hum. Genet. 82:424-431(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT GLN-419, FUNCTION, INDUCTION, INVOLVEMENT IN SHEP1, INVOLVEMENT IN SUSCEPTIBILITY TO MELANOMA.
    27. "Blue eye color in humans may be caused by a perfectly associated founder mutation in a regulatory element located within the HERC2 gene inhibiting OCA2 expression."
      Eiberg H., Troelsen J., Nielsen M., Mikkelsen A., Mengel-From J., Kjaer K.W., Hansen L.
      Hum. Genet. 123:177-187(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: INVOLVEMENT IN SHEP1, INDUCTION.

    Entry informationi

    Entry nameiP_HUMAN
    AccessioniPrimary (citable) accession number: Q04671
    Secondary accession number(s): Q15211
    , Q15212, Q96EN1, Q9UMI5
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: June 1, 1994
    Last sequence update: March 21, 2006
    Last modified: October 1, 2014
    This is version 152 of the entry and version 2 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 15
      Human chromosome 15: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. Protein Spotlight
      Protein Spotlight articles and cited UniProtKB/Swiss-Prot entries
    6. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3