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Reviewed, UniProtKB/Swiss-Prot Q04671 (P_HUMAN)

Last modified June 16, 2009. Version 98. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data | Customize display text xml rdf/xml gff fasta
Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Alternative products · Sequence annotation (Features) · Sequences · References · Web resources · Cross-references · Entry information · Relevant documents

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)
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length838 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is not processed.
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

Subcellular location

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

Polymorphism

Genetic variations in OCA2 are associated with skin/hair/eye pigmentation variability type 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.

Involvement in disease

Defects in OCA2 are the cause of oculocutaneous albinism type 2 (OCA2) [MIM:203200]. OCA2 is an autosomal recessive form of albinism, a disorder of pigmentation in the skin, hair, and eyes. The phenotype of patients with OCA2 is typically somewhat less severe than in those with tyrosinase-deficient OCA1. There are several forms of OCA2, from typical OCA to relatively mild 'autosomal recessive ocular albinism' (AROA). OCA2 is the most prevalent type of albinism throughout the world. Ref.4 Ref.9 Ref.10 Ref.11 Ref.12 Ref.13 Ref.14 Ref.16 Ref.17 Ref.18 Ref.23

The gene OCA2 is localized to chromosome 15 at 15q11.2-q12, a region associated with Prader-Willi and Angelman syndromes, suggesting that altered expression of the OCA2 gene may be responsible for the hypopygmentation phenotype exhibited by certain individuals with these disorders. Ref.4

Human pigmentation, including eye color, has been associated with skin cancer risk. Ref.4

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 – 19718 Potential
Topological domain198 – 330133Extracellular Potential
Transmembrane331 – 34717 Potential
Topological domain348 – 3536Cytoplasmic Potential
Transmembrane354 – 37017 Potential
Topological domain371 – 38414Extracellular Potential
Transmembrane385 – 40117 Potential
Topological domain402 – 42322Cytoplasmic Potential
Transmembrane424 – 44017 Potential
Topological domain441 – 51373Extracellular Potential
Transmembrane514 – 53017 Potential
Topological domain531 – 62090Cytoplasmic Potential
Transmembrane621 – 63717 Potential
Topological domain638 – 64710Extracellular Potential
Transmembrane648 – 66417 Potential
Topological domain665 – 67915Cytoplasmic Potential
Transmembrane680 – 69617 Potential
Topological domain697 – 72024Extracellular Potential
Transmembrane721 – 73717 Potential
Topological domain738 – 76023Cytoplasmic Potential
Transmembrane761 – 77717 Potential
Topological domain778 – 81740Extracellular Potential
Transmembrane818 – 83417 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.18
VAR_020622
Natural variant271G → R in OCA2.
VAR_006117
Natural variant861S → R in OCA2. Ref.12
VAR_006118
Natural variant1121C → F in OCA2. Ref.12
VAR_006119
Natural variant1981P → L in OCA2. Ref.18
VAR_020623
Natural variant206 – 2116Missing in OCA2; severe. Ref.18
VAR_006120
Natural variant2111P → L in OCA2. Ref.18
VAR_020624
Natural variant2411P → R: dbSNP rs2305253.
VAR_022019
Natural variant2571A → D: dbSNP rs1050968. Ref.12 Ref.1
VAR_006121
Natural variant2661R → W: dbSNP rs33929465.
VAR_032094
Natural variant273 – 2742NW → KV in OCA2.
VAR_006122
Natural variant2901R → G in OCA2. Ref.13 Ref.16
VAR_020625
Natural variant3051R → W Polymorphism associated with nonblue eye color; could be a biomarker of cutaneous cancer risk. dbSNP rs1800401. Ref.2 Ref.13 Ref.15 Ref.19
VAR_006123
Natural variant3341A → V in OCA2. Ref.14
VAR_020626
Natural variant3361A → V: dbSNP rs34010619.
VAR_032095
Natural variant3501V → M in unclassified OCA. Ref.14
VAR_020627
Natural variant3681A → V in OCA2. Ref.12
VAR_006124
Natural variant3701I → T in unclassified OCA. dbSNP rs34731820. Ref.14
VAR_020628
Natural variant3851F → I in OCA2; severe.
VAR_006125
Natural variant3871T → M Ref.18
VAR_020629
Natural variant3941M → I in OCA2. Ref.18
VAR_020630
Natural variant3951M → L in OCA2; severe.
VAR_006126
Natural variant4041T → M in OCA2.
VAR_006127
Natural variant4191R → Q Polymorphism associated with green/hazel eye color. dbSNP rs1800407. Ref.2 Ref.13 Ref.15 Ref.19
VAR_006128
Natural variant4191R → W in OCA2.
VAR_006129
Natural variant4251Missing in OCA2; mild.
VAR_006130
Natural variant4401L → F: dbSNP rs1800408. Ref.2
VAR_007939
Natural variant4401L → H Ref.2
VAR_006131
Natural variant4431V → I in OCA2. Ref.13 Ref.16 Ref.23
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.23
VAR_043700
Natural variant4811A → T in OCA2. Ref.17 Ref.18
VAR_007940
Natural variant4891N → D in OCA2; mild/severe. Ref.16
VAR_006135
Natural variant5191V → A: dbSNP rs41446944.
VAR_032096
Natural variant5491H → Q in OCA2.
VAR_006136
Natural variant5601R → H: dbSNP rs35110389.
VAR_032097
Natural variant5921T → I in OCA2. dbSNP rs1800413. Ref.12
VAR_006137
Natural variant6141K → E in OCA2. Ref.13
VAR_020631
Natural variant6141K → N in OCA2. Ref.13
VAR_006138
Natural variant6151H → R: dbSNP rs1800414. Ref.2 Ref.18
VAR_006139
Natural variant6171I → L in OCA2. Ref.13
VAR_020632
Natural variant6521W → R in OCA2.
VAR_006140
Natural variant6781E → K in unclassified OCA. Ref.14
VAR_020633
Natural variant6791W → C in OCA2. Ref.13 Ref.16
VAR_020634
Natural variant6791W → R in OCA2; severe. Ref.13 Ref.16
VAR_006141
Natural variant6881L → F in unclassified OCA. Ref.14
VAR_020635
Natural variant7201R → C in OCA2. Ref.13
VAR_020636
Natural variant7221I → T: dbSNP rs1800417. Ref.2
VAR_006142
Natural variant7241A → P in OCA2. Ref.12
VAR_006143
Natural variant7361S → L in OCA2.
VAR_006144
Natural variant7431P → L in OCA2 and unclassified OCA.
VAR_006145
Natural variant7731A → T in a breast cancer sample; somatic mutation. Ref.21
VAR_036468
Natural variant7751G → R in OCA2. Ref.23
VAR_043701
Natural variant7871A → V in OCA2. Ref.12
VAR_006146
Natural variant7951G → R in OCA2. Ref.13
VAR_020637
Natural variant7991Q → H in OCA2. Ref.17
VAR_020638
Natural variant8271Y → H in OCA2. Ref.23
VAR_043702
Natural variant8331Missing in OCA2. Ref.13
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.

Checksum: 3AFFDD314F878F2A
Show »

FASTA81490,520
Isoform 3.

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: 8421497] [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: 7601462] [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: 15489334] [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: 1509264] [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: 11310796] [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: 11601658] [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: 15262401] [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: 10094567] [Abstract]
Cited for: REVIEW ON OCA2 VARIANTS.
[9]"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: 7874125] [Abstract]
Cited for: VARIANTS OCA2.
[10]"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: 7762554] [Abstract]
Cited for: VARIANTS OCA2.
[11]"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: 9259203] [Abstract]
Cited for: VARIANTS OCA2.
[12]"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: 10671067] [Abstract]
Cited for: VARIANTS OCA2 ARG-86; PHE-112; VAL-368; ILE-592; PRO-724 AND VAL-787, VARIANT ASP-257.
[13]"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: 10987646] [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.
[14]"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: 10649493] [Abstract]
Cited for: VARIANT OCA2 VAL-334, VARIANTS UNCLASSIFIED OCA MET-350; THR-370; LYS-678; PHE-688 AND LEU-743.
[15]"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: 12163334] [Abstract]
Cited for: VARIANTS TRP-305 AND GLN-419, INVOLVEMENT IN DETERMINATION OF EYE COLOR, INVOLVEMENT IN SKIN CANCER RISK.
[16]"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: 12876664] [Abstract]
Cited for: VARIANTS OCA2 GLY-290; ILE-443; ASP-489; CYS-679 AND LEU-743.
[17]"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: 12727022] [Abstract]
Cited for: VARIANTS OCA2 THR-481 AND HIS-799.
[18]"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: 12713581] [Abstract]
Cited for: VARIANTS OCA2 TRP-10; LEU-198; LEU-211; ILE-394 AND THR-481, VARIANTS MET-387 AND ARG-615.
[19]"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: 15889046] [Abstract]
Cited for: VARIANTS TRP-305 AND GLN-419, INVOLVEMENT IN SUSCEPTIBILITY TO MELANOMA.
[20]"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: 17236130] [Abstract]
Cited for: INVOLVEMENT IN SHEP1.
[21]"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: 16959974] [Abstract]
Cited for: VARIANT [LARGE SCALE ANALYSIS] THR-773.
[22]"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: 17952075] [Abstract]
Cited for: INVOLVEMENT IN SHEP1.
[23]"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: 17385796] [Abstract]
Cited for: VARIANTS OCA2 ILE-443; ASP-476; ARG-775 AND HIS-827.
[24]"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: 18252221] [Abstract]
Cited for: INVOLVEMENT IN SHEP1.
[25]"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: 18252222] [Abstract]
Cited for: INVOLVEMENT IN SHEP1 AND INVOLVEMENT IN SUSCEPTIBILITY TO MELANOMA.
[26]"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: 18172690] [Abstract]
Cited for: INVOLVEMENT IN SHEP1.
+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

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.
IPIIPI00028627.
IPI00150205.
IPI00513686.
PIRA57173.
S28911.
RefSeqNP_000266.2.
UniGeneHs.654411

3D structure databases

ModBaseSearch...

Protein family/group databases

TCDB2.A.45.2.1. arsenite-antimonite (ArsB) efflux family.

PTM databases

PhosphoSiteQ04671.

Proteomic databases

PRIDEQ04671.

Genome annotation databases

EnsemblENSG00000104044. Homo sapiens. [Contig view]
GeneID4948.
KEGGhsa:4948.

Organism-specific databases

GeneCardsGC15M025673.
HGNCHGNC:8101. OCA2.
MIM203200. phenotype.
227220. phenotype.
611409. gene.
Orphanet55. Oculocutaneous albinism.
739. Prader-Willi syndrome.
PharmGKBPA31890.
GenAtlasSearch...

Phylogenomic databases

HOGENOMQ04671.
HOVERGENQ04671.
OMAQ04671. PQQVTHN.

Gene expression databases

ArrayExpressQ04671.
BgeeQ04671.
CleanExHS_OCA2.
GermOnlineENSG00000104044. Homo sapiens.

Family and domain databases

InterProIPR000802. Ars_pump.
IPR004680. Divalent_ion_symporter.
[Graphical view]
PfamPF03600. CitMHS. 1 hit.
[Graphical view]
TIGRFAMsTIGR00935. 2a45. 1 hit.
ProtoNetSearch...

Other Resources

NextBio19061.
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: June 16, 2009
This is version 98 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation projectHPI (Human Proteome Initiative)

Relevant documents

Human chromosome 15

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

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

MIM cross-references

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

Protein Spotlight

Protein Spotlight articles and cited UniProtKB/Swiss-Prot entries

SIMILARITY comments

Index of protein domains and families

Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Alternative products · Sequence annotation (Features) · Sequences · References · Web resources · Cross-references · Entry information · Relevant documents