AutismKB 2.0

Annotation Details for OCA2


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Basic Information Top
Gene Symbol:OCA2 ( BEY,BEY1,BEY2,BOCA,D15S12,EYCL,EYCL2,EYCL3,HCL3,P,PED,SHEP1 )
Gene Full Name: oculocutaneous albinism II
Band: 15q12-q13.1
Quick LinksEntrez ID:4948; OMIM: 611409; Uniprot ID:P_HUMAN; ENSEMBL ID: ENSG00000104044; HGNC ID: 8101
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005737TAS-cytoplasm7601462
GO:0005765IDA-lysosomal membrane19116314
GO:0005789IDA-endoplasmic reticulum membrane19116314
GO:0010008IDA-endosome membrane19116314
GO:0016021IEA-integral component of membrane-
GO:0033162IDA-melanosome membrane19116314
GO ID Evidence Qualifier GO_term References
GO:0005215TAS-transporter activity8302318
GO:0005302TAS-L-tyrosine transmembrane transporter activity7601462
GO:0005515IPI-protein binding19116314
GO ID Evidence Qualifier GO_term References
GO:0006726TAS-eye pigment biosynthetic process8421497
GO:0007286IEA-spermatid development-
GO:0008283IEA-cell proliferation-
GO:0015828IEA-tyrosine transport-
GO:0030318IEA-melanocyte differentiation-
GO:0042438IEA-melanin biosynthetic process-
GO:0055085IEA-transmembrane transport-
Protein-Protein Interaction Top
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:97454
  • Data Attributes: MGI curated and HomoloGene calculated
SELECT * FROM lijr_20110218_zfin_genotype_phenotype WHERE ZFIN_Gene_ID='ZDB-GENE-070718-4'