Q04671 (P_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
P protein

Alternative name(s):
Melanocyte-specific transporter protein
Pink-eyed dilution protein homolog

Gene names

Name:	OCA2
Synonyms:	D15S12, P

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	838 AA.
Sequence status	Complete.
Protein existence	Evidence 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]

Ontologies

Keywords
Biological process	Transport
Cellular component	Membrane
Coding sequence diversity	Alternative splicing Polymorphism
Disease	Albinism Disease mutation
Domain	Transmembrane Transmembrane helix
PTM	Glycoprotein Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	cell proliferation Inferred from electronic annotation. Source: Compara eye pigment biosynthetic process Traceable author statement Ref.1. Source: ProtInc melanin biosynthetic process Inferred from electronic annotation. Source: Compara melanocyte differentiation Inferred from electronic annotation. Source: Compara spermatid development Inferred from electronic annotation. Source: Compara
Cellular_component	endoplasmic reticulum membrane Inferred from direct assay PubMed 19116314. Source: UniProtKB endosome membrane Inferred from direct assay PubMed 19116314. Source: UniProtKB integral to membrane Traceable author statement Ref.1. Source: ProtInc lysosomal membrane Inferred from direct assay PubMed 19116314. Source: UniProtKB melanosome membrane Inferred from direct assay PubMed 19116314. Source: UniProtKB
Molecular_function	L-tyrosine transmembrane transporter activity Traceable author statement Ref.2. Source: ProtInc
Complete GO annotation...

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 key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 838	838	P protein		PRO_0000172509
Regions
	Topological domain	1 – 179	179	Cytoplasmic Potential
	Transmembrane	180 – 197	18	Helical; Potential
	Topological domain	198 – 330	133	Extracellular Potential
	Transmembrane	331 – 347	17	Helical; Potential
	Topological domain	348 – 353	6	Cytoplasmic Potential
	Transmembrane	354 – 370	17	Helical; Potential
	Topological domain	371 – 384	14	Extracellular Potential
	Transmembrane	385 – 401	17	Helical; Potential
	Topological domain	402 – 423	22	Cytoplasmic Potential
	Transmembrane	424 – 440	17	Helical; Potential
	Topological domain	441 – 513	73	Extracellular Potential
	Transmembrane	514 – 530	17	Helical; Potential
	Topological domain	531 – 620	90	Cytoplasmic Potential
	Transmembrane	621 – 637	17	Helical; Potential
	Topological domain	638 – 647	10	Extracellular Potential
	Transmembrane	648 – 664	17	Helical; Potential
	Topological domain	665 – 679	15	Cytoplasmic Potential
	Transmembrane	680 – 696	17	Helical; Potential
	Topological domain	697 – 720	24	Extracellular Potential
	Transmembrane	721 – 737	17	Helical; Potential
	Topological domain	738 – 760	23	Cytoplasmic Potential
	Transmembrane	761 – 777	17	Helical; Potential
	Topological domain	778 – 817	40	Extracellular Potential
	Transmembrane	818 – 834	17	Helical; Potential
	Topological domain	835 – 838	4	Cytoplasmic Potential
Amino acid modifications
	Modified residue	161	1	Phosphoserine By similarity
	Glycosylation	214	1	N-linked (GlcNAc...) Potential
	Glycosylation	218	1	N-linked (GlcNAc...) Potential
	Glycosylation	273	1	N-linked (GlcNAc...) Potential
	Glycosylation	442	1	N-linked (GlcNAc...) Potential
	Glycosylation	781	1	N-linked (GlcNAc...) Potential
Natural variations
	Alternative sequence	349 – 372	24	Missing in isoform 2.		VSP_012284
	Alternative sequence	652 – 668	17	WIAIL…LADIH → GLGLVQAGRYYLSTPES in isoform 3.		VSP_012285
	Alternative sequence	669 – 838	170	Missing in isoform 3.		VSP_012286
	Natural variant	10	1	R → W in OCA2. Ref.19		VAR_020622
	Natural variant	27	1	G → R in OCA2.		VAR_006117
	Natural variant	86	1	S → R in OCA2. Ref.13		VAR_006118
	Natural variant	112	1	C → F in OCA2. Ref.13		VAR_006119
	Natural variant	198	1	P → L in OCA2. Ref.19		VAR_020623
	Natural variant	206 – 211	6	Missing in OCA2; severe.		VAR_006120
	Natural variant	211	1	P → L in OCA2. Ref.19		VAR_020624
	Natural variant	241	1	P → R. Corresponds to variant rs2305253 [ dbSNP | Ensembl ].		VAR_022019
	Natural variant	257	1	A → D. Ref.1 Ref.13 Corresponds to variant rs1050968 [ dbSNP | Ensembl ].		VAR_006121
	Natural variant	266	1	R → W. Corresponds to variant rs33929465 [ dbSNP | Ensembl ].		VAR_032094
	Natural variant	273 – 274	2	NW → KV in OCA2.		VAR_006122
	Natural variant	290	1	R → G in OCA2. Ref.14 Ref.17		VAR_020625
	Natural variant	305	1	R → 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 variant	334	1	A → V in OCA2. Ref.15		VAR_020626
	Natural variant	336	1	A → V. Corresponds to variant rs34010619 [ dbSNP | Ensembl ].		VAR_032095
	Natural variant	350	1	V → M in unclassified OCA. Ref.15		VAR_020627
	Natural variant	368	1	A → V in OCA2. Ref.13		VAR_006124
	Natural variant	370	1	I → T in unclassified OCA. Ref.15 Corresponds to variant rs34731820 [ dbSNP | Ensembl ].		VAR_020628
	Natural variant	385	1	F → I in OCA2; severe.		VAR_006125
	Natural variant	387	1	T → M. Ref.19		VAR_020629
	Natural variant	394	1	M → I in OCA2. Ref.19		VAR_020630
	Natural variant	395	1	M → L in OCA2; severe.		VAR_006126
	Natural variant	404	1	T → M in OCA2.		VAR_006127
	Natural variant	419	1	R → 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 variant	419	1	R → W in OCA2.		VAR_006129
	Natural variant	425	1	Missing in OCA2; mild.		VAR_006130
	Natural variant	440	1	L → F. Ref.2 Corresponds to variant rs1800408 [ dbSNP | Ensembl ].		VAR_007939
	Natural variant	440	1	L → H.		VAR_006131
	Natural variant	443	1	V → I in OCA2. Ref.14 Ref.17 Ref.24 Corresponds to variant rs28934272 [ dbSNP | Ensembl ].		VAR_006132
	Natural variant	446	1	M → V in OCA2; mild; AROA form.		VAR_006133
	Natural variant	473	1	I → S in OCA2.		VAR_006134
	Natural variant	476	1	N → D in OCA2. Ref.24		VAR_043700
	Natural variant	481	1	A → T in OCA2. Ref.18 Ref.19		VAR_007940
	Natural variant	489	1	N → D in OCA2; mild/severe. Ref.17		VAR_006135
	Natural variant	519	1	V → A. Corresponds to variant rs41446944 [ dbSNP | Ensembl ].		VAR_032096
	Natural variant	549	1	H → Q in OCA2.		VAR_006136
	Natural variant	560	1	R → H. Corresponds to variant rs35110389 [ dbSNP | Ensembl ].		VAR_032097
	Natural variant	592	1	T → I in OCA2. Ref.13 Corresponds to variant rs1800413 [ dbSNP | Ensembl ].		VAR_006137
	Natural variant	614	1	K → E in OCA2. Ref.14		VAR_020631
	Natural variant	614	1	K → N in OCA2.		VAR_006138
	Natural variant	615	1	H → R. Ref.2 Ref.19 Corresponds to variant rs1800414 [ dbSNP | Ensembl ].		VAR_006139
	Natural variant	617	1	I → L in OCA2. Ref.14		VAR_020632
	Natural variant	652	1	W → R in OCA2.		VAR_006140
	Natural variant	678	1	E → K in unclassified OCA. Ref.15		VAR_020633
	Natural variant	679	1	W → C in OCA2. Ref.14 Ref.17		VAR_020634
	Natural variant	679	1	W → R in OCA2; severe.		VAR_006141
	Natural variant	688	1	L → F in unclassified OCA. Ref.15		VAR_020635
	Natural variant	720	1	R → C in OCA2. Ref.14		VAR_020636
	Natural variant	722	1	I → T. Ref.2 Corresponds to variant rs1800417 [ dbSNP | Ensembl ].		VAR_006142
	Natural variant	724	1	A → P in OCA2. Ref.13		VAR_006143
	Natural variant	736	1	S → L in OCA2.		VAR_006144
	Natural variant	743	1	P → L in OCA2 and unclassified OCA. Ref.15 Ref.17		VAR_006145
	Natural variant	773	1	A → T in a breast cancer sample; somatic mutation. Ref.22		VAR_036468
	Natural variant	775	1	G → R in OCA2. Ref.24		VAR_043701
	Natural variant	787	1	A → V in OCA2. Ref.13		VAR_006146
	Natural variant	795	1	G → R in OCA2. Ref.14		VAR_020637
	Natural variant	799	1	Q → H in OCA2. Ref.18		VAR_020638
	Natural variant	827	1	Y → H in OCA2. Ref.24		VAR_043702
	Natural variant	833	1	Missing in OCA2. Ref.14		VAR_021682

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified March 21, 2006. Version 2. Checksum: A6158B9E55BD7199	FASTA	838	92,850
	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
	Isoform 2 [UniParc]. Checksum: 3AFFDD314F878F2A	FASTA	814	90,520
	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 VYALIIFERP SLTHVVEWID 370 380 390 400 410 420 FETLALLFGM MILVAIFSET GFFDYCAVKA YRLSRGRVWA MIIMLCLIAA VLSAFLDNVT 430 440 450 460 470 480 TMLLFTPVTI RLCEVLNLDP RQVLIAEVIF TNIGGAATAI GDPPNVIIVS NQELRKMGLD 490 500 510 520 530 540 FAGFTAHMFI GICLVLLVCF PLLRLLYWNR KLYNKEPSEI VELKHEIHVW RLTAQRISPA 550 560 570 580 590 600 SREETAVRRL LLGKVLALEH LLARRLHTFH RQISQEDKNW ETNIQELQKK HRISDGILLA 610 620 630 640 650 660 KCLTVLGFVI FMFFLNSFVP GIHLDLGWIA ILGAIWLLIL ADIHDFEIIL HRVEWATLLF 670 680 690 700 710 720 FAALFVLMEA LAHLHLIEYV GEQTALLIKM VPEEQRLIAA IVLVVWVSAL ASSLIDNIPF 730 740 750 760 770 780 TATMIPVLLN LSHDPEVGLP APPLMYALAF GACLGGNGTL IGASANVVCA GIAEQHGYGF 790 800 810 SFMEFFRLGF PMMVVSCTVG MCYLLVAHVV VGWN
	Isoform 3 [UniParc]. Checksum: A6E50C6F1276BC4F	FASTA	668	74,312
	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 GGLGLVQAGR YYLSTPES

References

	« Hide 'large scale' referencesShow '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. , 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. , 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. , 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 , 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.
IPI	IPI00028627. IPI00150205. IPI00513686.
PIR	A57173. S28911.
RefSeq	NP_000266.2. NM_000275.2.
UniGene	Hs.654411.
3D structure databases
ProteinModelPortal	Q04671.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q04671. 1 interaction.
STRING	9606.ENSP00000346659.
Protein family/group databases
TCDB	2.A.45.2.1. arsenite-antimonite (ArsB) efflux family.
PTM databases
PhosphoSite	Q04671.
Polymorphism databases
DMDM	90110050.
Proteomic databases
PaxDb	Q04671.
PRIDE	Q04671.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000353809; ENSP00000261276; ENSG00000104044. ENST00000354638; ENSP00000346659; ENSG00000104044. ENST00000382996; ENSP00000372457; ENSG00000104044.
GeneID	4948.
KEGG	hsa:4948.
UCSC	uc001zbh.4. human. uc010ayv.3. human.
Organism-specific databases
CTD	4948.
GeneCards	GC15M028000.
H-InvDB	HIX0012054.
HGNC	HGNC:8101. OCA2.
HPA	HPA036403.
MIM	203200. phenotype. 227220. phenotype. 611409. gene.
neXtProt	NX_Q04671.
Orphanet	72. Angelman syndrome. 79432. Oculocutaneous albinism type 2. 739. Prader-Willi syndrome.
PharmGKB	PA31890.
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG1055.
HOGENOM	HOG000047303.
HOVERGEN	HBG008343.
InParanoid	Q04671.
OMA	RWRRPQQ.
OrthoDB	EOG42RD6R.
PhylomeDB	Q04671.
Gene expression databases
ArrayExpress	Q04671.
Bgee	Q04671.
CleanEx	HS_OCA2.
Genevestigator	Q04671.
GermOnline	ENSG00000104044. Homo sapiens.
Family and domain databases
InterPro	IPR004680. Cit_transptr-like_dom. [Graphical view]
Pfam	PF03600. CitMHS. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	4948.
NextBio	19061.
SOURCE	Search...

Entry information

Entry name

P_HUMAN

Accession

Primary (citable) accession number: Q04671
Secondary accession number(s): Q15211 , Q15212, Q96EN1, Q9UMI5

Entry history

Integrated into UniProtKB/Swiss-Prot:	June 1, 1994
Last sequence update:	March 21, 2006
Last modified:	May 29, 2013
This is version 140 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.