OCA2 (oculocutaneous albinism II)

Identity

Other names	BEY
	BEY1
	BEY2
	BOCA
	D15S12
	EYCL
	EYCL2
	EYCL3
	HCL3
	P
	PED
	SHEP1
HGNC	OCA2
Location	15q11.2-q12
Note	Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

External links

	Nomenclature
HGNC	OCA2   8101
Entrez_Gene	OCA2  4948  oculocutaneous albinism II
	Cards
GeneCards	OCA2
Ensembl	OCA2 [Search_View]   ENSG00000104044 [Gene_View]
Genatlas	OCA2
GeneLynx	OCA2
eGenome	OCA2
euGene	4948
	Genomic and cartography
GoldenPath	OCA2  -     chr15:25673616-26018053 -  15q12   [Description]    (hg18-March_2006)
Ensembl	OCA2 - 15q12 [CytoView]
NCBI	Mapview
OMIM	Disease map [OMIM]
HomoloGene	OCA2
	Gene and transcription
Genbank	BC012097 [ ENTREZ ]
Genbank	M97901 [ ENTREZ ]
Genbank	M99564 [ ENTREZ ]
RefSeq	NM_000275 [ SRS ]    NM_000275 [ ENTREZ ]
RefSeq	AC_000058 [ SRS ]    AC_000058 [ ENTREZ ]
RefSeq	AC_000147 [ SRS ]    AC_000147 [ ENTREZ ]
RefSeq	NC_000015 [ SRS ]    NC_000015 [ ENTREZ ]
RefSeq	NT_010280 [ SRS ]    NT_010280 [ ENTREZ ]
RefSeq	NW_001838195 [ SRS ]    NW_001838195 [ ENTREZ ]
RefSeq	NW_925783 [ SRS ]    NW_925783 [ ENTREZ ]
AceView	OCA2 AceView - NCBI
Unigene	Hs.654411 [ SRS ]    Hs.654411 [ NCBI ]     HS654411 [ spliceNest ]
Fast-db	485 (alternative variants)
	Protein : pattern, domain, 3D structure
SwissProt	Q04671 [ SRS]    Q04671 [ EXPASY ]     Q04671 [ INTERPRO ]     Q04671 [ UNIPROT ]
Interpro	IPR000802 Ars_pump [ SRS ]    IPR000802 Ars_pump [ EBI ]
Interpro	IPR004680 Divalent_ion_symporter [ SRS ]    IPR004680 Divalent_ion_symporter [ EBI ]
CluSTr	Q04671
Pfam	PF03600 CitMHS [ SRS ]    PF03600 CitMHS [ Sanger ]    pfam03600 [ NCBI-CDD ]
Blocks	Q04671
HPRD	01945
	Protein Interaction databases
DIP	Q04671
IntAct	Q04671
	Polymorphism : SNP, mutations, diseases
OMIM	203200;227220;611409    [ map ]
GENECLINICS	203200;227220;611409
SNP	OCA2 [dbSNP-NCBI]
SNP	NM_000275 [SNP-NCI]
SNP	OCA2 [GeneSNPs - Utah]  OCA2] [HGBASE - SRS]
HAPMAP	OCA2 [HAPMAP]
HGMD	OCA2
	General knowledge
Family Browser	OCA2 [UCSC Family Browser]
SOURCE	NM_000275
SMD	Hs.654411
SAGE	Hs.654411
GO	transporter activity [Amigo]  transporter activity
GO	L-tyrosine transmembrane transporter activity [Amigo]  L-tyrosine transmembrane transporter activity
GO	cytoplasm [Amigo]  cytoplasm
GO	eye pigment biosynthetic process [Amigo]  eye pigment biosynthetic process
GO	transport [Amigo]  transport
GO	arsenite transmembrane transporter activity [Amigo]  arsenite transmembrane transporter activity
GO	citrate transmembrane transporter activity [Amigo]  citrate transmembrane transporter activity
GO	citrate transport [Amigo]  citrate transport
GO	membrane [Amigo]  membrane
GO	integral to membrane [Amigo]  integral to membrane
GO	melanosome membrane [Amigo]  melanosome membrane
PubGene	OCA2
TreeFam	OCA2
CTD	4948 [Comparative ToxicoGenomics Database]
	Other databases
	Probes
Probe	OCA2 Related clones (RZPD - Berlin)
	PubMed
PubMed	47 Pubmed reference(s) in LocusLink

Genes in title	automatic search in PubMed
REVIEW articles	automatic search in PubMed
Last year publications	automatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written	09-2002	Dessen P, Le Minor S
Updated	03-2008	Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology

indexed on : Mon Aug 11 20:23:05 2008