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Q04671

- P_HUMAN

UniProt

Q04671 - P_HUMAN

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Protein

P protein

Gene
OCA2, D15S12, P
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

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
Complete GO annotation...

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; Multi-pass membrane protein 1 Publication

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 179179Cytoplasmic Reviewed predictionAdd
BLAST
Transmembranei180 – 19718Helical; Reviewed predictionAdd
BLAST
Topological domaini198 – 330133Extracellular Reviewed predictionAdd
BLAST
Transmembranei331 – 34717Helical; Reviewed predictionAdd
BLAST
Topological domaini348 – 3536Cytoplasmic Reviewed prediction
Transmembranei354 – 37017Helical; Reviewed predictionAdd
BLAST
Topological domaini371 – 38414Extracellular Reviewed predictionAdd
BLAST
Transmembranei385 – 40117Helical; Reviewed predictionAdd
BLAST
Topological domaini402 – 42322Cytoplasmic Reviewed predictionAdd
BLAST
Transmembranei424 – 44017Helical; Reviewed predictionAdd
BLAST
Topological domaini441 – 51373Extracellular Reviewed predictionAdd
BLAST
Transmembranei514 – 53017Helical; Reviewed predictionAdd
BLAST
Topological domaini531 – 62090Cytoplasmic Reviewed predictionAdd
BLAST
Transmembranei621 – 63717Helical; Reviewed predictionAdd
BLAST
Topological domaini638 – 64710Extracellular Reviewed prediction
Transmembranei648 – 66417Helical; Reviewed predictionAdd
BLAST
Topological domaini665 – 67915Cytoplasmic Reviewed predictionAdd
BLAST
Transmembranei680 – 69617Helical; Reviewed predictionAdd
BLAST
Topological domaini697 – 72024Extracellular Reviewed predictionAdd
BLAST
Transmembranei721 – 73717Helical; Reviewed predictionAdd
BLAST
Topological domaini738 – 76023Cytoplasmic Reviewed predictionAdd
BLAST
Transmembranei761 – 77717Helical; Reviewed predictionAdd
BLAST
Topological domaini778 – 81740Extracellular Reviewed predictionAdd
BLAST
Transmembranei818 – 83417Helical; Reviewed predictionAdd
BLAST
Topological domaini835 – 8384Cytoplasmic Reviewed prediction

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
Complete GO annotation...

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.
Note: The disease is caused by mutations affecting the gene represented in this entry.11 Publications
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...) Reviewed prediction
Glycosylationi218 – 2181N-linked (GlcNAc...) Reviewed prediction
Glycosylationi273 – 2731N-linked (GlcNAc...) Reviewed prediction
Glycosylationi442 – 4421N-linked (GlcNAc...) Reviewed prediction
Glycosylationi781 – 7811N-linked (GlcNAc...) Reviewed prediction

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.

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. VSP_012284Add
BLAST
Alternative sequencei652 – 66817WIAIL…LADIH → GLGLVQAGRYYLSTPES in isoform 3. VSP_012285Add
BLAST
Alternative sequencei669 – 838170Missing in isoform 3. VSP_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]
ENST00000382996; ENSP00000372457; ENSG00000104044. [Q04671-3]
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 ]
ENST00000382996 ; ENSP00000372457 ; ENSG00000104044 . [Q04671-3 ]
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

« Hide 'large scale' publications
  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: July 9, 2014
This is version 151 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

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