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HUMAN:P

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Species (Taxon ID) Homo sapiens (Human). (9606)
Gene Name(s) OCA2 (synonyms: D15S12, P)
Protein Name(s) P protein

Melanocyte-specific transporter protein Pink-eyed dilution protein homolog

External Links
UniProt Q04671
EMBL M99564
U19170
U19153
U19154
U19156
U19158
U19160
U19162
U19164
U19166
U19169
U19168
U19167
U19165
U19163
U19161
U19159
U19157
U19155
U19176
U19153
U19154
U19155
U19157
U19158
U19159
U19160
U19161
U19162
U19163
U19164
U19165
U19166
U19167
U19168
U19169
U19171
U19172
U19173
U19174
U19175
BC012097
M97901
CCDS CCDS10020.1
CCDS73701.1
PIR A57173
S28911
RefSeq NP_000266.2
NP_001287913.1
UniGene Hs.654411
ProteinModelPortal Q04671
SMR Q04671
BioGrid 111002
IntAct Q04671
STRING 9606.ENSP00000346659
TCDB 2.A.45.2.1
PhosphoSite Q04671
DMDM 90110050
PaxDb Q04671
PRIDE Q04671
Ensembl ENST00000353809
ENST00000354638
GeneID 4948
KEGG hsa:4948
UCSC uc001zbh.4
uc010ayv.3
CTD 4948
GeneCards GC15M028000
GeneReviews OCA2
H-InvDB HIX0012054
HGNC HGNC:8101
HPA HPA036403
MIM 203200
227220
611409
neXtProt NX_Q04671
Orphanet 72
79432
98754
177901
177904
PharmGKB PA31890
eggNOG COG1055
GeneTree ENSGT00390000017120
HOGENOM HOG000047303
HOVERGEN HBG008343
InParanoid Q04671
OMA QQVTHNW
OrthoDB EOG738040
PhylomeDB Q04671
TreeFam TF323556
GeneWiki OCA2
GenomeRNAi 4948
NextBio 19061
PRO PR:Q04671
Proteomes UP000005640
Bgee Q04671
CleanEx HS_OCA2
ExpressionAtlas Q04671
Genevestigator Q04671
GO GO:0005737
GO:0005789
GO:0010008
GO:0016021
GO:0005765
GO:0033162
GO:0005302
GO:0005215
GO:0008283
GO:0006726
GO:0042438
GO:0030318
GO:0007286
GO:0015828
InterPro IPR004680
Pfam PF03600

Annotations

Qualifier GO ID GO term name Reference ECO ID ECO term name with/from Aspect Extension Notes Status
GO:0006749

glutathione metabolic process

PMID:22065085[1]

ECO:0000316

PMID:22065085[1]


P

Figure 2 shows that the allele BEH2 is blue eye associated and is limited to Europe whereas alleles BEH1 and BEH3 are found on a global pattern.


complete
CACAO 4050

part_of

GO:0033162

melanosome membrane

PMID:19116314[2]

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

part_of

GO:0010008

endosome membrane

PMID:19116314[2]

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

part_of

GO:0005789

endoplasmic reticulum membrane

PMID:19116314[2]

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

part_of

GO:0005765

lysosomal membrane

PMID:19116314[2]

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

involved_in

GO:0015828

tyrosine transport

GO_REF:0000108

ECO:0000364

evidence based on logical inference from manual annotation used in automatic assertion

GO:0005302

P

Seeded From UniProt

complete

involved_in

GO:0048066

developmental pigmentation

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:Q62052
ensembl:ENSMUSP00000032633

P

Seeded From UniProt

complete

involved_in

GO:0043473

pigmentation

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:Q62052
ensembl:ENSMUSP00000032633

P

Seeded From UniProt

complete

involved_in

GO:0042438

melanin biosynthetic process

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:Q62052
ensembl:ENSMUSP00000032633

P

Seeded From UniProt

complete

involved_in

GO:0030318

melanocyte differentiation

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:Q62052
ensembl:ENSMUSP00000032633

P

Seeded From UniProt

complete

involved_in

GO:0008283

cell population proliferation

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:Q62052
ensembl:ENSMUSP00000032633

P

Seeded From UniProt

complete

involved_in

GO:0007286

spermatid development

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:Q62052
ensembl:ENSMUSP00000032633

P

Seeded From UniProt

complete

part_of

GO:0016021

integral component of membrane

GO_REF:0000002

ECO:0000256

match to sequence model evidence used in automatic assertion

InterPro:IPR004680

C

Seeded From UniProt

complete

involved_in

GO:0055085

transmembrane transport

GO_REF:0000002

ECO:0000256

match to sequence model evidence used in automatic assertion

InterPro:IPR004680

P

Seeded From UniProt

complete

part_of

GO:0016021

integral component of membrane

PMID:8421497[3]

ECO:0000304

author statement supported by traceable reference used in manual assertion

C

Seeded From UniProt

complete

involved_in

GO:0006726

eye pigment biosynthetic process

PMID:8421497[3]

ECO:0000304

author statement supported by traceable reference used in manual assertion

P

Seeded From UniProt

complete

part_of

GO:0005737

cytoplasm

PMID:7601462[4]

ECO:0000304

author statement supported by traceable reference used in manual assertion

C

Seeded From UniProt

complete

enables

GO:0005302

L-tyrosine transmembrane transporter activity

PMID:7601462[4]

ECO:0000304

author statement supported by traceable reference used in manual assertion

F

Seeded From UniProt

complete

enables

GO:0005215

transporter activity

PMID:8421497[3]
PMID:8302318[5]

ECO:0000304

author statement supported by traceable reference used in manual assertion


F

Seeded From UniProt

complete

part_of

GO:0016020

membrane

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0472

C

Seeded From UniProt

complete

part_of

GO:0016021

integral component of membrane

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0812

C

Seeded From UniProt

complete

part_of

GO:0033162

melanosome membrane

GO_REF:0000039

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-SubCell:SL-0160

C

Seeded From UniProt

complete

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Notes

References

See Help:References for how to manage references in GONUTS.

  1. ↑ 1.0 1.1 Donnelly, MP et al. (2012) A global view of the OCA2-HERC2 region and pigmentation. Hum. Genet. 131 683-96 PubMed GONUTS page
  2. ↑ 2.0 2.1 2.2 2.3 Sitaram, A et al. (2009) Localization to mature melanosomes by virtue of cytoplasmic dileucine motifs is required for human OCA2 function. Mol. Biol. Cell 20 1464-77 PubMed GONUTS page
  3. ↑ 3.0 3.1 3.2 Rinchik, EM et al. (1993) A gene for the mouse pink-eyed dilution locus and for human type II oculocutaneous albinism. Nature 361 72-6 PubMed GONUTS page
  4. ↑ 4.0 4.1 Lee, ST et al. (1995) Organization and sequence of the human P gene and identification of a new family of transport proteins. Genomics 26 354-63 PubMed GONUTS page
  5. ↑ Lee, ST et al. (1994) Mutations of the P gene in oculocutaneous albinism, ocular albinism, and Prader-Willi syndrome plus albinism. N. Engl. J. Med. 330 529-34 PubMed GONUTS page
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