Gene
oca2
- ID
- ZDB-GENE-070718-4
- Name
- oculocutaneous albinism II
- Symbol
- oca2 Nomenclature History
- Previous Names
-
- P gene
- Type
- protein_coding_gene
- Location
- Chr: 6 Mapping Details/Browsers
- Description
- Acts upstream of or within iridophore differentiation; melanin biosynthetic process; and melanocyte differentiation. Predicted to be located in membrane. Predicted to be active in melanosome membrane. Human ortholog(s) of this gene implicated in actinic keratosis; oculocutaneous albinism type II; pigmentation disease; skin cancer (multiple); and squamous cell carcinoma. Orthologous to human OCA2 (OCA2 melanosomal transmembrane protein).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Seberg et al., 2017
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| oculocutaneous albinism type II | Alliance | Albinism, brown oculocutaneous | 203200 |
| oculocutaneous albinism type II | Alliance | Albinism, oculocutaneous, type II | 203200 |
| [Skin/hair/eye pigmentation 1, blond/brown hair] | 227220 | ||
| [Skin/hair/eye pigmentation 1, blue/nonblue eyes] | 227220 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | Citrate transporter-like domain | Diverse Ion Transporter |
|---|---|---|---|---|
| UniProtKB:A0A2R8Q6Z4 | InterPro | 834 | ||
| UniProtKB:A0A8M9PN14 | InterPro | 753 | ||
| UniProtKB:A0A8M9Q7E6 | InterPro | 176 | ||
| UniProtKB:A0AB32TT69 | InterPro | 838 |
Interactions and Pathways
No data available
Plasmids
No data available