| Gene Information | |
|---|---|
| Gene Name | D15S12 |
| Organism | Homo sapiens (Human) |
| Gene Length | 838 |
| Protein Names | P protein (Melanocyte-specific transporter protein) (Pink-eyed dilution protein homolog) |
| Target Name | NA |
| Target Type | NA |
| Gene Age | NA |
| Evolutionary Stage | NA |
| AlphaFoldDB | Q04671 |
| Gene Card | OCA2 |
| Uniprot ID | Q04671 |
| Pfam | PF03600 |
| In ASD | no |
| Allosteric Prediction | NA |
| Ortholog in Animals | NA |
| Ohnologs | NA |
| Paralogs | NA |
| Tissue | NA |
| Tissue Specificity | Expressed in melanocytes and retinal pigment epithelium. {ECO:0000269|PubMed:25513726, ECO:0000269|PubMed:32966160}. |
| Pharmacological Animal Models | NA |
| Gene Ontology (biological process) |
|
| Gene Ontology (cellular component) |
|
| Gene Ontology (molecular function) |
|
| PDB | NA |
| DBSNP | rs554862186 rs61738394 rs772243109 rs562649990 rs183487020 rs190612616 rs2305253 rs1050968 rs33929465 rs797044784 rs769408559 rs1800401 rs121918168 rs34010619 rs533478642 rs61745150 rs34731820 rs137956605 rs150335311 rs121918171 rs757286784 rs144812594 rs1800407 rs143218168 rs752510351 rs1800408 rs121918166 rs140566426 rs74653330 rs121918170 rs41446944 rs35110389 rs1800413 rs1800414 rs763016773 rs1372200062 rs886043514 rs121918169 rs751822606 rs772754008 rs141545475 rs1800417 rs780296175 rs121918167 rs1184589806 rs200457227 rs1255943449 rs751440917 |
| Subcellular location [CC] | Melanosome membrane {ECO:0000269|PubMed:25513726, ECO:0000269|PubMed:7601462}; Multi-pass membrane protein {ECO:0000269|PubMed:7601462}. |
| Mouse PG classification | NA |
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