Oculocutaneous albinism II gene
GPTKB entity
Statements (18)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alsoKnownAs |
gptkb:OCA2
|
| gptkbp:associatedWith |
gptkb:oculocutaneous_albinism_type_2
|
| gptkbp:encodes |
gptkb:P_protein
|
| gptkbp:Entrez_Gene_ID |
4948
|
| gptkbp:expressedIn |
gptkb:melanocytes
gptkb:retinal_pigment_epithelium |
| gptkbp:function |
melanin biosynthesis
|
| gptkbp:geneType |
protein-coding
|
| gptkbp:HGNC_ID |
HGNC:8106
|
| https://www.w3.org/2000/01/rdf-schema#label |
Oculocutaneous albinism II gene
|
| gptkbp:locatedOnChromosome |
gptkb:chromosome_15
|
| gptkbp:mutationAssociatedWith |
hypopigmentation
|
| gptkbp:OMIM |
203200
|
| gptkbp:orthologInMouse |
gptkb:pink-eyed_dilution_(p)_gene
|
| gptkbp:UniProtID |
gptkb:Q04671
|
| gptkbp:bfsParent |
gptkb:OCA2_gene
|
| gptkbp:bfsLayer |
7
|