Skip Header

You are using a version of Internet Explorer that may not display all features of this website. Please upgrade to a modern browser.
Contribute Send feedback
Read comments (?) or add your own

Q04671 (P_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified March 19, 2014. Version 147. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
P protein
Alternative name(s):
Melanocyte-specific transporter protein
Pink-eyed dilution protein homolog
Gene names
Name:OCA2
Synonyms:D15S12, P
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length838 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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. Ref.2 Ref.5 Ref.7 Ref.9 Ref.26

Subcellular location

Melanosome membrane; Multi-pass membrane protein Ref.2.

Induction

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. Ref.9 Ref.26 Ref.27

Polymorphism

Genetic variants in OCA2 define the skin/hair/eye pigmentation variation locus 1 (SHEP1) [MIM: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.

Involvement in disease

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.4 Ref.10 Ref.11 Ref.12 Ref.13 Ref.14 Ref.15 Ref.17 Ref.18 Ref.19 Ref.24

Sequence similarities

Belongs to the CitM (TC 2.A.11) transporter family. [View classification]

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q04671-1)

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.
Isoform 2 (identifier: Q04671-2)

The sequence of this isoform differs from the canonical sequence as follows:
     349-372: Missing.
Isoform 3 (identifier: Q04671-3)

The sequence of this isoform differs from the canonical sequence as follows:
     652-668: WIAILGAIWLLILADIH → GLGLVQAGRYYLSTPES
     669-838: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 838838P protein
PRO_0000172509

Regions

Topological domain1 – 179179Cytoplasmic Potential
Transmembrane180 – 19718Helical; Potential
Topological domain198 – 330133Extracellular Potential
Transmembrane331 – 34717Helical; Potential
Topological domain348 – 3536Cytoplasmic Potential
Transmembrane354 – 37017Helical; Potential
Topological domain371 – 38414Extracellular Potential
Transmembrane385 – 40117Helical; Potential
Topological domain402 – 42322Cytoplasmic Potential
Transmembrane424 – 44017Helical; Potential
Topological domain441 – 51373Extracellular Potential
Transmembrane514 – 53017Helical; Potential
Topological domain531 – 62090Cytoplasmic Potential
Transmembrane621 – 63717Helical; Potential
Topological domain638 – 64710Extracellular Potential
Transmembrane648 – 66417Helical; Potential
Topological domain665 – 67915Cytoplasmic Potential
Transmembrane680 – 69617Helical; Potential
Topological domain697 – 72024Extracellular Potential
Transmembrane721 – 73717Helical; Potential
Topological domain738 – 76023Cytoplasmic Potential
Transmembrane761 – 77717Helical; Potential
Topological domain778 – 81740Extracellular Potential
Transmembrane818 – 83417Helical; Potential
Topological domain835 – 8384Cytoplasmic Potential

Amino acid modifications

Glycosylation2141N-linked (GlcNAc...) Potential
Glycosylation2181N-linked (GlcNAc...) Potential
Glycosylation2731N-linked (GlcNAc...) Potential
Glycosylation4421N-linked (GlcNAc...) Potential
Glycosylation7811N-linked (GlcNAc...) Potential

Natural variations

Alternative sequence349 – 37224Missing in isoform 2.
VSP_012284
Alternative sequence652 – 66817WIAIL…LADIH → GLGLVQAGRYYLSTPES in isoform 3.
VSP_012285
Alternative sequence669 – 838170Missing in isoform 3.
VSP_012286
Natural variant101R → W in OCA2. Ref.19
VAR_020622
Natural variant271G → R in OCA2.
Corresponds to variant rs61738394 [ dbSNP | Ensembl ].
VAR_006117
Natural variant861S → R in OCA2. Ref.13
VAR_006118
Natural variant1121C → F in OCA2. Ref.13
VAR_006119
Natural variant1981P → L in OCA2. Ref.19
Corresponds to variant rs183487020 [ dbSNP | Ensembl ].
VAR_020623
Natural variant206 – 2116Missing in OCA2; severe.
VAR_006120
Natural variant2111P → L in OCA2. Ref.19
VAR_020624
Natural variant2411P → R.
Corresponds to variant rs2305253 [ dbSNP | Ensembl ].
VAR_022019
Natural variant2571A → D. Ref.1 Ref.13
Corresponds to variant rs1050968 [ dbSNP | Ensembl ].
VAR_006121
Natural variant2661R → W.
Corresponds to variant rs33929465 [ dbSNP | Ensembl ].
VAR_032094
Natural variant273 – 2742NW → KV in OCA2.
VAR_006122
Natural variant2901R → G in OCA2. Ref.14 Ref.17
VAR_020625
Natural variant3051R → W Polymorphism associated with nonblue eye color; could be a biomarker of cutaneous cancer risk. Ref.2 Ref.14 Ref.16 Ref.20
Corresponds to variant rs1800401 [ dbSNP | Ensembl ].
VAR_006123
Natural variant3341A → V in OCA2. Ref.15
VAR_020626
Natural variant3361A → V.
Corresponds to variant rs34010619 [ dbSNP | Ensembl ].
VAR_032095
Natural variant3501V → M in unclassified OCA. Ref.15
VAR_020627
Natural variant3681A → V in OCA2. Ref.13
Corresponds to variant rs61745150 [ dbSNP | Ensembl ].
VAR_006124
Natural variant3701I → T in unclassified OCA. Ref.15
Corresponds to variant rs34731820 [ dbSNP | Ensembl ].
VAR_020628
Natural variant3851F → I in OCA2; severe.
Corresponds to variant rs137956605 [ dbSNP | Ensembl ].
VAR_006125
Natural variant3871T → M. Ref.19
Corresponds to variant rs150335311 [ dbSNP | Ensembl ].
VAR_020629
Natural variant3941M → I in OCA2. Ref.19
VAR_020630
Natural variant3951M → L in OCA2; severe.
VAR_006126
Natural variant4041T → M in OCA2.
Corresponds to variant rs144812594 [ dbSNP | Ensembl ].
VAR_006127
Natural variant4191R → Q Polymorphism associated with green/hazel eye color. Ref.2 Ref.14 Ref.16 Ref.20 Ref.26
Corresponds to variant rs1800407 [ dbSNP | Ensembl ].
VAR_006128
Natural variant4191R → W in OCA2.
Corresponds to variant rs143218168 [ dbSNP | Ensembl ].
VAR_006129
Natural variant4251Missing in OCA2; mild.
VAR_006130
Natural variant4401L → F. Ref.2
Corresponds to variant rs1800408 [ dbSNP | Ensembl ].
VAR_007939
Natural variant4401L → H.
VAR_006131
Natural variant4431V → I in OCA2. Ref.14 Ref.17 Ref.24
Corresponds to variant rs28934272 [ dbSNP | Ensembl ].
VAR_006132
Natural variant4461M → V in OCA2; mild; AROA form.
VAR_006133
Natural variant4731I → S in OCA2.
VAR_006134
Natural variant4761N → D in OCA2. Ref.24
VAR_043700
Natural variant4811A → T in OCA2. Ref.18 Ref.19
Corresponds to variant rs74653330 [ dbSNP | Ensembl ].
VAR_007940
Natural variant4891N → D in OCA2; mild/severe. Ref.17
VAR_006135
Natural variant5191V → A.
Corresponds to variant rs41446944 [ dbSNP | Ensembl ].
VAR_032096
Natural variant5491H → Q in OCA2.
VAR_006136
Natural variant5601R → H.
Corresponds to variant rs35110389 [ dbSNP | Ensembl ].
VAR_032097
Natural variant5921T → I in OCA2. Ref.13
Corresponds to variant rs1800413 [ dbSNP | Ensembl ].
VAR_006137
Natural variant6141K → E in OCA2. Ref.14
VAR_020631
Natural variant6141K → N in OCA2.
VAR_006138
Natural variant6151H → R. Ref.2 Ref.19
Corresponds to variant rs1800414 [ dbSNP | Ensembl ].
VAR_006139
Natural variant6171I → L in OCA2. Ref.14
VAR_020632
Natural variant6521W → R in OCA2.
VAR_006140
Natural variant6781E → K in unclassified OCA. Ref.15
VAR_020633
Natural variant6791W → C in OCA2. Ref.14 Ref.17
VAR_020634
Natural variant6791W → R in OCA2; severe.
VAR_006141
Natural variant6881L → F in unclassified OCA. Ref.15
VAR_020635
Natural variant7201R → C in OCA2. Ref.14
VAR_020636
Natural variant7221I → T. Ref.2
Corresponds to variant rs1800417 [ dbSNP | Ensembl ].
VAR_006142
Natural variant7241A → P in OCA2. Ref.13
VAR_006143
Natural variant7361S → L in OCA2.
VAR_006144
Natural variant7431P → L in OCA2 and unclassified OCA. Ref.15 Ref.17
VAR_006145
Natural variant7731A → T in a breast cancer sample; somatic mutation. Ref.22
VAR_036468
Natural variant7751G → R in OCA2. Ref.24
VAR_043701
Natural variant7871A → V in OCA2. Ref.13
VAR_006146
Natural variant7951G → R in OCA2. Ref.14
VAR_020637
Natural variant7991Q → H in OCA2. Ref.18
VAR_020638
Natural variant8271Y → H in OCA2. Ref.24
VAR_043702
Natural variant8331Missing in OCA2. Ref.14
VAR_021682

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified March 21, 2006. Version 2.
Checksum: A6158B9E55BD7199

FASTA83892,850
        10         20         30         40         50         60 
MHLEGRDGRR YPGAPAVELL QTSVPSGLAE LVAGKRRLPR GAGGADPSHS CPRGAAGQSS 

        70         80         90        100        110        120 
WAPAGQEFAS FLTKGRSHSS LPQMSSSRSK DSCFTENTPL LRNSLQEKGS RCIPVYHPEF 

       130        140        150        160        170        180 
ITAEESWEDS SADWERRYLL SREVSGLSAS ASSEKGDLLD SPHIRLRLSK LRRCVQWLKV 

       190        200        210        220        230        240 
MGLFAFVVLC SILFSLYPDQ GKLWQLLALS PLENYSVNLS SHVDSTLLQV DLAGALVASG 

       250        260        270        280        290        300 
PSRPGREEHI VVELTQADAL GSRWRRPQQV THNWTVYLNP RRSEHSVMSR TFEVLTRETV 

       310        320        330        340        350        360 
SISIRASLQQ TQAVPLLMAH QYLRGSVETQ VTIATAILAG VYALIIFEIV HRTLAAMLGS 

       370        380        390        400        410        420 
LAALAALAVI GDRPSLTHVV EWIDFETLAL LFGMMILVAI FSETGFFDYC AVKAYRLSRG 

       430        440        450        460        470        480 
RVWAMIIMLC LIAAVLSAFL DNVTTMLLFT PVTIRLCEVL NLDPRQVLIA EVIFTNIGGA 

       490        500        510        520        530        540 
ATAIGDPPNV IIVSNQELRK MGLDFAGFTA HMFIGICLVL LVCFPLLRLL YWNRKLYNKE 

       550        560        570        580        590        600 
PSEIVELKHE IHVWRLTAQR ISPASREETA VRRLLLGKVL ALEHLLARRL HTFHRQISQE 

       610        620        630        640        650        660 
DKNWETNIQE LQKKHRISDG ILLAKCLTVL GFVIFMFFLN SFVPGIHLDL GWIAILGAIW 

       670        680        690        700        710        720 
LLILADIHDF EIILHRVEWA TLLFFAALFV LMEALAHLHL IEYVGEQTAL LIKMVPEEQR 

       730        740        750        760        770        780 
LIAAIVLVVW VSALASSLID NIPFTATMIP VLLNLSHDPE VGLPAPPLMY ALAFGACLGG 

       790        800        810        820        830 
NGTLIGASAN VVCAGIAEQH GYGFSFMEFF RLGFPMMVVS CTVGMCYLLV AHVVVGWN 

« Hide

Isoform 2 [UniParc].

Checksum: 3AFFDD314F878F2A
Show »

FASTA81490,520
Isoform 3 [UniParc].

Checksum: A6E50C6F1276BC4F
Show »

FASTA66874,312

References

« Hide 'large scale' references
[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]"Novel mutations of the P gene in type II oculocutaneous albinism (OCA2)."
Spritz R.A., Lee S.-T., Fukai K., Brondum-Nielsen K., Chitayat D., Lipson M.H., Musarella M.A., Rosenmann A., Weleber R.G.
Hum. Mutat. 10:175-177(1997) [PubMed] [Europe PMC] [Abstract]
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]"Allele variations in the OCA2 gene (pink-eyed-dilution locus) are associated with genetic susceptibility to melanoma."
Melan-Cohort
Jannot A.-S., Meziani R., Bertrand G., Gerard B., Descamps V., Archimbaud A., Picard C., Ollivaud L., Basset-Seguin N., Kerob D., Lanternier G., Lebbe C., Saiag P., Crickx B., Clerget-Darpoux F., Grandchamp B., Soufir N.
Eur. J. Hum. Genet. 13:913-920(2005) [PubMed] [Europe PMC] [Abstract]
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]"The consensus coding sequences of human breast and colorectal cancers."
Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V. expand/collapse author list , Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W., Velculescu V.E.
Science 314:268-274(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT [LARGE SCALE ANALYSIS] THR-773.
[23]"Genetic determinants of hair, eye and skin pigmentation in Europeans."
Sulem P., Gudbjartsson D.F., Stacey S.N., Helgason A., Rafnar T., Magnusson K.P., Manolescu A., Karason A., Palsson A., Thorleifsson G., Jakobsdottir M., Steinberg S., Palsson S., Jonasson F., Sigurgeirsson B., Thorisdottir K., Ragnarsson R., Benediktsdottir K.R. expand/collapse author list , Aben K.K., Kiemeney L.A., Olafsson J.H., Gulcher J., Kong A., Thorsteinsdottir U., Stefansson K.
Nat. Genet. 39:1443-1452(2007) [PubMed] [Europe PMC] [Abstract]
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]"Three genome-wide association studies and a linkage analysis identify HERC2 as a human iris color gene."
Kayser M., Liu F., Janssens A.C.J.W., Rivadeneira F., Lao O., van Duijn K., Vermeulen M., Arp P., Jhamai M.M., van Ijcken W.F.J., den Dunnen J.T., Heath S., Zelenika D., Despriet D.D.G., Klaver C.C.W., Vingerling J.R., de Jong P.T.V.M., Hofman A. expand/collapse author list , Aulchenko Y.S., Uitterlinden A.G., Oostra B.A., van Duijn C.M.
Am. J. Hum. Genet. 82:411-423(2008) [PubMed] [Europe PMC] [Abstract]
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.
+Additional computationally mapped references.

Web resources

Mutations of the P gene

Retina International's Scientific Newsletter

Albinism database (ADB)

P mutations

Protein Spotlight

Questioning colour - Issue 54 of January 2005

GeneReviews

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
M99564 mRNA. Translation: AAA36477.1.
U19170 expand/collapse EMBL AC list , U19153, U19154, U19156, U19158, U19160, U19162, U19164, U19166, U19169, U19168, U19167, U19165, U19163, U19161, U19159, U19157, U19155 Genomic DNA. Translation: AAC13783.1.
U19176 expand/collapse EMBL AC list , 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.
PIRA57173.
S28911.
RefSeqNP_000266.2. NM_000275.2.
XP_005268316.1. XM_005268259.1.
UniGeneHs.654411.

3D structure databases

ProteinModelPortalQ04671.
SMRQ04671. Positions 328-522, 621-830.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid111002. 1 interaction.
IntActQ04671. 1 interaction.
STRING9606.ENSP00000346659.

Protein family/group databases

TCDB2.A.45.2.1. the arsenite-antimonite (arsb) efflux family.

PTM databases

PhosphoSiteQ04671.

Polymorphism databases

DMDM90110050.

Proteomic databases

PaxDbQ04671.
PRIDEQ04671.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000353809; ENSP00000261276; ENSG00000104044. [Q04671-2]
ENST00000354638; ENSP00000346659; ENSG00000104044. [Q04671-1]
ENST00000382996; ENSP00000372457; ENSG00000104044. [Q04671-3]
GeneID4948.
KEGGhsa:4948.
UCSCuc001zbh.4. human. [Q04671-1]
uc010ayv.3. human. [Q04671-2]

Organism-specific databases

CTD4948.
GeneCardsGC15M028000.
H-InvDBHIX0012054.
HGNCHGNC:8101. OCA2.
HPAHPA036403.
MIM203200. phenotype.
227220. phenotype.
611409. gene.
neXtProtNX_Q04671.
Orphanet72. 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.
PharmGKBPA31890.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG1055.
HOGENOMHOG000047303.
HOVERGENHBG008343.
InParanoidQ04671.
OMAPPLMYAL.
OrthoDBEOG738040.
PhylomeDBQ04671.
TreeFamTF323556.

Gene expression databases

ArrayExpressQ04671.
BgeeQ04671.
CleanExHS_OCA2.
GenevestigatorQ04671.

Family and domain databases

InterProIPR004680. Cit_transptr-like_dom.
[Graphical view]
PfamPF03600. CitMHS. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiOCA2.
GenomeRNAi4948.
NextBio19061.
PROQ04671.
SOURCESearch...

Entry information

Entry nameP_HUMAN
AccessionPrimary (citable) accession number: Q04671
Secondary accession number(s): Q15211 expand/collapse secondary AC list , Q15212, Q96EN1, Q9UMI5
Entry history
Integrated into UniProtKB/Swiss-Prot: June 1, 1994
Last sequence update: March 21, 2006
Last modified: March 19, 2014
This is version 147 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

Protein Spotlight

Protein Spotlight articles and cited UniProtKB/Swiss-Prot entries

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 15

Human chromosome 15: entries, gene names and cross-references to MIM