|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alternativeName
|
gptkb:P_gene
gptkb:pink-eyed_dilution_gene
|
|
gptkbp:associatedWith
|
gptkb:oculocutaneous_albinism_type_2
eye color
skin pigmentation
|
|
gptkbp:discoveredBy
|
gptkb:Richard_A._Spritz
|
|
gptkbp:encodes
|
gptkb:P_protein
|
|
gptkbp:Entrez_Gene_ID
|
4948
|
|
gptkbp:expressedIn
|
gptkb:melanocytes
|
|
gptkbp:function
|
melanin biosynthesis
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:hasTranscriptVariant
|
multiple
|
|
gptkbp:HGNC_ID
|
HGNC:8106
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
OCA2 (human)
|
|
gptkbp:involvedIn
|
pigmentation pathway
|
|
gptkbp:length
|
838 amino acids
|
|
gptkbp:locatedOnChromosome
|
gptkb:chromosome_15
15q12-q13.1
|
|
gptkbp:mutationAssociatedWith
|
gptkb:oculocutaneous_albinism_type_2
nonsense
deletion
insertion
missense
|
|
gptkbp:OMIM
|
203200
|
|
gptkbp:orthologInMouse
|
gptkb:Oca2
|
|
gptkbp:referenceGenome
|
gptkb:GRCh38.p14
|
|
gptkbp:relatedTo
|
melanosome biogenesis
melanosome pH regulation
|
|
gptkbp:UniProtID
|
gptkb:Q04671
|
|
gptkbp:bfsParent
|
gptkb:pink-eyed_dilution_gene
|
|
gptkbp:bfsLayer
|
8
|