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
- Involved in iridophore differentiation; melanin biosynthetic process; and melanocyte differentiation. Predicted to localize to integral component of 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
Allele | Type | Localization | Consequence | Mutagen | Supplier |
---|---|---|---|---|---|
ihb237 | Allele with one deletion | Exon 10 | Unknown | CRISPR | |
ihb238 | Allele with one deletion | Exon 10 | Unknown | CRISPR | |
la015914Tg | Transgenic insertion | Unknown | Unknown | DNA | |
sa9009 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
sa11052 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
sa20754 | Allele with one point mutation | Unknown | Splice Site | ENU | |
sa33907 | Allele with one point mutation | Unknown | Splice Site | ENU | |
sa33908 | Allele with one point mutation | Unknown | Splice Site | ENU | |
w77 | Allele with multiple variants | Unknown | Unknown | ENU |
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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 |
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Domain, Family, and Site Summary
Domain Details Per Protein
Protein | Length | Citrate transporter-like domain | Diverse Ion Transporter |
---|---|---|---|
UniProtKB:A0A2R8Q6Z4
|
834 | ||
UniProtKB:A0A8M9PN14
|
753 | ||
UniProtKB:A0A8M9Q7E6
|
176 |
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Interactions and Pathways
No data available
Plasmids
No data available
No data available
Relationship | Marker Type | Marker | Accession Numbers | Citations |
---|---|---|---|---|
Contained in | BAC | DKEY-20L10 |
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Type | Accession # | Sequence | Length (nt/aa) | Analysis |
---|---|---|---|---|
RNA | RefSeq:XM_068222010 (1) | 5791 nt | ||
Genomic | RefSeq:NW_018394658 (1) | 260150 nt | ||
Polypeptide | UniProtKB:A0A2R8Q6Z4 (1) | 834 aa |
- Cornean, A., Gierten, J., Welz, B., Mateo, J.L., Thumberger, T., Wittbrodt, J. (2022) Precise in vivo functional analysis of DNA variants with base editing using ACEofBASEs target prediction. eLIFE. 11:
- Neuffer, S.J., Beltran-Cardona, D., Jimenez-Perez, K., Clancey, L.F., Brown, A., New, L., Cooper, C.D. (2022) AP-3 complex delta subunit gene, ap3d1, regulates melanogenesis and melanophore survival via autophagy in zebrafish (Danio rerio). Pigment cell & melanoma research. 35(5):495-505
- Thumberger, T., Tavhelidse-Suck, T., Gutierrez-Triana, J.A., Cornean, A., Medert, R., Welz, B., Freichel, M., Wittbrodt, J. (2022) Boosting targeted genome editing using the hei-tag. eLIFE. 11:
- Hammouda, O.T., Böttger, F., Wittbrodt, J., Thumberger, T. (2019) Swift Large-scale Examination of Directed Genome Editing. PLoS One. 14:e0213317
- Lewis, V.M., Saunders, L.M., Larson, T.A., Bain, E.J., Sturiale, S.L., Gur, D., Chowdhury, S., Flynn, J.D., Allen, M.C., Deheyn, D.D., Lee, J.C., Simon, J.A., Lippincott-Schwartz, J., Raible, D.W., Parichy, D.M. (2019) Fate plasticity and reprogramming in genetically distinct populations of Danio leucophores. Proceedings of the National Academy of Sciences of the United States of America. 116(24):11806-11811
- Peterson, K.A., Neuffer, S., Bean, M.E., New, L., Coffin, A.B., Cooper, C.D. (2019) Melanosome maturation proteins Oca2, Mitfa and Vps11 are differentially required for cisplatin resistance in zebrafish melanocytes. Experimental dermatology. 28(7):795-800
- Wang, H., Meng, Z., Liu, F., Zhou, L., Su, M., Meng, Y., Zhang, S., Liao, X., Cao, Z., Lu, H. (2019) Characterization of boscalid-induced oxidative stress and neurodevelopmental toxicity in zebrafish embryos. Chemosphere. 238:124753
- Yang, X., Sun, Z., Wang, W., Zhou, Q., Shi, G., Wei, F., Jiang, G. (2018) Developmental toxicity of synthetic phenolic antioxidants to the early life stage of zebrafish. The Science of the total environment. 643:559-568
- Seberg, H.E., Van Otterloo, E., Loftus, S.K., Liu, H., Bonde, G., Sompallae, R., Gildea, D.E., Santana, J.F., Manak, J.R., Pavan, W.J., Williams, T., Cornell, R.A. (2017) TFAP2 paralogs regulate melanocyte differentiation in parallel with MITF. PLoS Genetics. 13:e1006636
- Xu, L., Xu, Q.H., Zhou, X.Y., Yin, L.Y., Guan, P.P., Zhang, T., Liu, J.X. (2017) Mechanisms of silver_nanoparticles induced hypopigmentation in embryonic zebrafish. Aquatic toxicology (Amsterdam, Netherlands). 184:49-60
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