|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alias
|
gptkb:P_gene
gptkb:pink-eyed_dilution_gene
|
|
gptkbp:alternativeSplicing
|
yes
|
|
gptkbp:associatedWith
|
gptkb:oculocutaneous_albinism_type_2
gptkb:Angelman_syndrome
gptkb:Prader-Willi_syndrome
eye color
hair pigmentation
skin pigmentation
|
|
gptkbp:biologicalProcess
|
pigmentation
anion transport
|
|
gptkbp:clinicalTrialPhase
|
yes
|
|
gptkbp:discoveredBy
|
analysis of albinism patients
|
|
gptkbp:diseaseDatabase
|
gptkb:GeneReviews
gptkb:OMIM
|
|
gptkbp:encodes
|
gptkb:P_protein
|
|
gptkbp:Entrez_Gene_ID
|
gptkb:ENSG00000104044
4948
GC01M203200
|
|
gptkbp:evolutionaryConservation
|
conserved in mammals
|
|
gptkbp:expressedIn
|
gptkb:melanocytes
highest in skin, eye, and hair follicles
|
|
gptkbp:firstDescribed
|
1994
|
|
gptkbp:fullName
|
gptkb:Oculocutaneous_albinism_II_gene
|
|
gptkbp:function
|
regulation of melanin synthesis
transport of small molecules in melanosomes
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:hasPolymorphism
|
eye color variation in humans
|
|
gptkbp:HGNC_ID
|
HGNC:8108
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
OCA2 gene
|
|
gptkbp:inheritance
|
autosomal recessive
|
|
gptkbp:involvedIn
|
melanogenesis
|
|
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:numberOfExons
|
24
|
|
gptkbp:OMIM
|
203200
|
|
gptkbp:orthologInMouse
|
gptkb:Oca2
|
|
gptkbp:product
|
transmembrane protein
|
|
gptkbp:referenceGenome
|
gptkb:GRCh38.p14
|
|
gptkbp:regulates
|
gptkb:HERC2_gene
|
|
gptkbp:relatedTo
|
gptkb:HERC2_gene
|
|
gptkbp:species
|
gptkb:Homo_sapiens
|
|
gptkbp:subcellularLocation
|
melanosome membrane
|
|
gptkbp:UniProtID
|
gptkb:Q04671
|
|
gptkbp:bfsParent
|
gptkb:Blue_Eyes
gptkb:Brown_Eyes
|
|
gptkbp:bfsLayer
|
6
|