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2.A.45.2.1
P-protein; possible tyrosine transporter (also called "melanocyte-specific transporter", "oculocutaneous albinism-related protein (Oca2)" and "pink-eyed dilution gene product").  It has been reported to exhibit chloride-selective anion channel activity and to be required for melanin production, possibly by controling melanosome pH (Bellono et al. 2014).

Accession Number:Q04671
Protein Name:P aka OCA2
Length:838
Molecular Weight:92850.00
Species:Homo sapiens (Human) [9606]
Number of TMSs:14
Location1 / Topology2 / Orientation3: Melanosome membrane1 / Multi-pass membrane protein2
Substrate tyrosine

Cross database links:

Genevestigator: Q04671
eggNOG: prNOG11543
HEGENOM: HBG727257
RefSeq: NP_000266.2   
Entrez Gene ID: 4948   
Pfam: PF03600   
OMIM: 203200  phenotype
227220  phenotype
611409  gene
KEGG: hsa:4948   

Gene Ontology

GO:0016021 C:integral to membrane
GO:0033162 C:melanosome membrane
GO:0015105 F:arsenite transmembrane transporter activity
GO:0015137 F:citrate transmembrane transporter activity
GO:0005302 F:L-tyrosine transmembrane transporter activity
GO:0015746 P:citrate transport
GO:0006726 P:eye pigment biosynthetic process
GO:0055085 P:transmembrane transport

References (26)

[1] “A gene for the mouse pink-eyed dilution locus and for human type II oculocutaneous albinism.”  Rinchik E.M.et.al.   8421497
[2] “Organization and sequence of the human P gene and identification of a new family of transport proteins.”  Lee S.-T.et.al.   7601462
[3] “The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).”  The MGC Project Teamet.al.   15489334
[4] “The mouse pink-eyed dilution gene: association with human Prader-Willi and Angelman syndromes.”  Gardner J.M.et.al.   1509264
[5] “The mouse p (pink-eyed dilution) and human P genes, oculocutaneous albinism type 2 (OCA2), and melanosomal pH.”  Brilliant M.H.et.al.   11310796
[6] “Inverse correlation between pink-eyed dilution protein expression and induction of melanogenesis by bafilomycin A1.”  Manga P.et.al.   11601658
[7] “Eye colour: portals into pigmentation genes and ancestry.”  Sturm R.A.et.al.   15262401
[8] “Molecular basis of albinism: mutations and polymorphisms of pigmentation genes associated with albinism.”  Oetting W.S.et.al.   10094567
[9] “Diverse mutations of the P gene among African-Americans with type II (tyrosinase-positive) oculocutaneous albinism (OCA2).”  Lee S.-T.et.al.   7874125
[10] “Frequent intragenic deletion of the P gene in Tanzanian patients with type II oculocutaneous albinism (OCA2).”  Spritz R.A.et.al.   7762554
[11] “Novel mutations of the P gene in type II oculocutaneous albinism (OCA2).”  Spritz R.A.et.al.   9259203
[12] “Mutations of the human P gene associated with type II oculocutaneous albinism (OCA2).”  Oetting W.S.et.al.   10671067
[13] “Novel and recurrent mutations in the tyrosinase gene and the P gene in the German albino population.”  Passmore L.A.et.al.   10987646
[14] “Identification of P gene mutations in individuals with oculocutaneous albinism in sub-Saharan Africa.”  Kerr R.et.al.   10649493
[15] “P gene as an inherited biomarker of human eye color.”  Rebbeck T.R.et.al.   12163334
[16] “MC1R mutations modify the classic phenotype of oculocutaneous albinism type 2 (OCA2).”  King R.A.et.al.   12876664
[17] “A novel P gene missense mutation in a Japanese patient with oculocutaneous albinism type II (OCA2).”  Kato A.et.al.   12727022
[18] “Six novel P gene mutations and oculocutaneous albinism type 2 frequency in Japanese albino patients.”  Suzuki T.et.al.   12713581
[19] “Allele variations in the OCA2 gene (pink-eyed-dilution locus) are associated with genetic susceptibility to melanoma.”  Jannot A.-S.et.al.   15889046
[20] “A three-single-nucleotide polymorphism haplotype in intron 1 of OCA2 explains most human eye-color variation.”  Duffy D.L.et.al.   17236130
[21] “The consensus coding sequences of human breast and colorectal cancers.”  Sjoeblom T.et.al.   16959974
[22] “Genetic determinants of hair, eye and skin pigmentation in Europeans.”  Sulem P.et.al.   17952075
[23] “Prenatal diagnosis of oculocutaneous albinism type II and novel mutations in two Chinese families.”  Hongyi L.et.al.   17385796
[24] “Three genome-wide association studies and a linkage analysis identify HERC2 as a human iris color gene.”  Kayser M.et.al.   18252221
[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.et.al.   18252222
[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.et.al.   18172690

External Searches:

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Predict TMSs (Predict number of transmembrane segments)
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FASTA formatted sequence
1:	MHLEGRDGRR YPGAPAVELL QTSVPSGLAE LVAGKRRLPR GAGGADPSHS CPRGAAGQSS 
61:	WAPAGQEFAS FLTKGRSHSS LPQMSSSRSK DSCFTENTPL LRNSLQEKGS RCIPVYHPEF 
121:	ITAEESWEDS SADWERRYLL SREVSGLSAS ASSEKGDLLD SPHIRLRLSK LRRCVQWLKV 
181:	MGLFAFVVLC SILFSLYPDQ GKLWQLLALS PLENYSVNLS SHVDSTLLQV DLAGALVASG 
241:	PSRPGREEHI VVELTQADAL GSRWRRPQQV THNWTVYLNP RRSEHSVMSR TFEVLTRETV 
301:	SISIRASLQQ TQAVPLLMAH QYLRGSVETQ VTIATAILAG VYALIIFEIV HRTLAAMLGS 
361:	LAALAALAVI GDRPSLTHVV EWIDFETLAL LFGMMILVAI FSETGFFDYC AVKAYRLSRG 
421:	RVWAMIIMLC LIAAVLSAFL DNVTTMLLFT PVTIRLCEVL NLDPRQVLIA EVIFTNIGGA 
481:	ATAIGDPPNV IIVSNQELRK MGLDFAGFTA HMFIGICLVL LVCFPLLRLL YWNRKLYNKE 
541:	PSEIVELKHE IHVWRLTAQR ISPASREETA VRRLLLGKVL ALEHLLARRL HTFHRQISQE 
601:	DKNWETNIQE LQKKHRISDG ILLAKCLTVL GFVIFMFFLN SFVPGIHLDL GWIAILGAIW 
661:	LLILADIHDF EIILHRVEWA TLLFFAALFV LMEALAHLHL IEYVGEQTAL LIKMVPEEQR 
721:	LIAAIVLVVW VSALASSLID NIPFTATMIP VLLNLSHDPE VGLPAPPLMY ALAFGACLGG 
781:	NGTLIGASAN VVCAGIAEQH GYGFSFMEFF RLGFPMMVVS CTVGMCYLLV AHVVVGWN