• Gene id: 4948

Gene Summary

• Gene Symbol: OCA2   Gene   UCSC   Ensembl
• Aliases: BEY, BEY1, BEY2, BOCA, D15S12, EYCL, EYCL2, EYCL3, HCL3, P, PED, SHEP1
• Gene name: OCA2 melanosomal transmembrane protein
• Alternate names: P protein, P-protein, eye color 2 (central brown), eye color 3 (brown), hair color 3 (brown), melanocyte-specific transporter protein, oculocutaneous albinism II (pink-eye dilution homolog, mouse), pink-eyed dilution protein homolog, total brown iris pigmentation,
• Gene location: 15q12-q13.1 (28099341: 27719007)     Exons: 30     NC_000015.10
• Gene summary(Entrez): This gene encodes the human homolog of the mouse p (pink-eyed dilution) gene. The encoded protein is believed to be an integral membrane protein involved in small molecule transport, specifically tyrosine, which is a precursor to melanin synthesis. It is
• OMIM: 601383

Protein Summary

• Protein general information: Q04671  
  • Name: P protein (Melanocyte specific transporter protein) (Pink eyed dilution protein homolog)
  • Length: 838  
  • Mass: 92850
• Sequence:

  MHLEGRDGRRYPGAPAVELLQTSVPSGLAELVAGKRRLPRGAGGADPSHSCPRGAAGQSSWAPAGQEFASFLTKG
  RSHSSLPQMSSSRSKDSCFTENTPLLRNSLQEKGSRCIPVYHPEFITAEESWEDSSADWERRYLLSREVSGLSAS
  ASSEKGDLLDSPHIRLRLSKLRRCVQWLKVMGLFAFVVLCSILFSLYPDQGKLWQLLALSPLENYSVNLSSHVDS
  TLLQVDLAGALVASGPSRPGREEHIVVELTQADALGSRWRRPQQVTHNWTVYLNPRRSEHSVMSRTFEVLTRETV
  SISIRASLQQTQAVPLLMAHQYLRGSVETQVTIATAILAGVYALIIFEIVHRTLAAMLGSLAALAALAVIGDRPS
  LTHVVEWIDFETLALLFGMMILVAIFSETGFFDYCAVKAYRLSRGRVWAMIIMLCLIAAVLSAFLDNVTTMLLFT
  PVTIRLCEVLNLDPRQVLIAEVIFTNIGGAATAIGDPPNVIIVSNQELRKMGLDFAGFTAHMFIGICLVLLVCFP
  LLRLLYWNRKLYNKEPSEIVELKHEIHVWRLTAQRISPASREETAVRRLLLGKVLALEHLLARRLHTFHRQISQE
  DKNWETNIQELQKKHRISDGILLAKCLTVLGFVIFMFFLNSFVPGIHLDLGWIAILGAIWLLILADIHDFEIILH
  RVEWATLLFFAALFVLMEALAHLHLIEYVGEQTALLIKMVPEEQRLIAAIVLVVWVSALASSLIDNIPFTATMIP
  VLLNLSHDPEVGLPAPPLMYALAFGACLGGNGTLIGASANVVCAGIAEQHGYGFSFMEFFRLGFPMMVVSCTVGM
  CYLLVAHVVVGWN

• Structural information:
  • Interpro: IPR004680  
  • STRING: ENSP00000346659
• Other Databases: GeneCards:  OCA2  Malacards:  OCA2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005789	endoplasmic reticulum membrane	IDA	cellular component
GO:0005765	lysosomal membrane	IDA	cellular component
GO:0033162	melanosome membrane	IDA	cellular component
GO:0010008	endosome membrane	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0055085	transmembrane transport	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005302	L-tyrosine transmembrane transporter activity	TAS	molecular function
GO:0005215	transporter activity	TAS	molecular function
GO:0005215	transporter activity	TAS	molecular function
GO:0005737	cytoplasm	TAS	cellular component
GO:0006726	eye pigment biosynthetic process	TAS	biological process
GO:0016021	integral component of membrane	TAS	cellular component
GO:0043473	pigmentation	IEA	biological process
GO:0042438	melanin biosynthetic process	IEA	biological process
GO:0030318	melanocyte differentiation	IEA	biological process
GO:0008283	cell population proliferation	IEA	biological process
GO:0048066	developmental pigmentation	IEA	biological process
GO:0007286	spermatid development	IEA	biological process
GO:0033162	melanosome membrane	IEA	cellular component
GO:0015828	tyrosine transport	IEA	biological process

Diseases

Associated diseases	References
Oculocutaneous albinism	KEGG:H00168
Oculocutaneous albinism	KEGG:H00168
Oculocutaneous albinism type II	PMID:22734612
Squamous cell carcinoma	PMID:24617981
basal cell carcinoma	PMID:19384953
basal cell carcinoma	PMID:21270109
Actinic keratosis	PMID:24617981
skin melanoma	PMID:15889046
skin melanoma	PMID:19710684
skin melanoma	PMID:24617981
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray