|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alias
|
gptkb:P_gene
gptkb:pink-eyed_dilution_gene
|
|
gptkbp:associatedWith
|
gptkb:oculocutaneous_albinism_type_2
gptkb:Angelman_syndrome
gptkb:Prader-Willi_syndrome
|
|
gptkbp:biologicalProcess
|
pigmentation
melanin biosynthetic process
transmembrane transporter activity
|
|
gptkbp:discoveredBy
|
mapping of albinism loci
|
|
gptkbp:encodes
|
gptkb:P_protein
|
|
gptkbp:Entrez_Gene_ID
|
4948
|
|
gptkbp:expressedIn
|
gptkb:melanocytes
gptkb:retinal_pigment_epithelium
|
|
gptkbp:fullName
|
gptkb:Oculocutaneous_albinism_II
|
|
gptkbp:function
|
involved in melanin biosynthesis
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:HGNC_ID
|
HGNC:8108
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
OCA2
|
|
gptkbp:length
|
24 exons
|
|
gptkbp:locatedOnChromosome
|
15
|
|
gptkbp:location
|
15q12-q13.1
|
|
gptkbp:mutationAssociatedWith
|
causes hypopigmentation
causes visual impairment
|
|
gptkbp:OMIM
|
203200
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
gptkbp:orthologIn
|
gptkb:mouse_Oca2
|
|
gptkbp:proteinFamily
|
gptkb:Solute_carrier_family
|
|
gptkbp:UniProtID
|
gptkb:Q04671
|
|
gptkbp:bfsParent
|
gptkb:chromosome_15
|
|
gptkbp:bfsLayer
|
6
|