Statements (26)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alternativeName |
gptkb:P_gene
gptkb:pink-eyed_dilution_gene |
| gptkbp:associatedWith |
gptkb:oculocutaneous_albinism_type_2
|
| gptkbp:discoveredBy |
gptkb:Richard_A._Spritz
|
| gptkbp:encodes |
gptkb:P_protein
|
| gptkbp:Entrez_Gene_ID |
4948
|
| gptkbp:expressedIn |
gptkb:melanocytes
|
| gptkbp:function |
involved in melanin biosynthesis
|
| https://www.w3.org/2000/01/rdf-schema#label |
Oca2
|
| gptkbp:locatedOnChromosome |
gptkb:chromosome_15
|
| gptkbp:mutationAssociatedWith |
nonsense
deletion missense albinism |
| gptkbp:OMIM |
203200
|
| gptkbp:organism |
gptkb:Homo_sapiens
|
| gptkbp:orthologIn |
gptkb:Danio_rerio
gptkb:Mus_musculus |
| gptkbp:proteinFamily |
gptkb:solute_carrier_family
|
| gptkbp:relatedTo |
hair color
eye color skin pigmentation |
| gptkbp:UniProtID |
gptkb:Q04671
|
| gptkbp:bfsParent |
gptkb:OCA2_gene
|
| gptkbp:bfsLayer |
7
|