Gene
rdh12
- ID
- ZDB-GENE-040718-9
- Name
- retinol dehydrogenase 12
- Symbol
- rdh12 Nomenclature History
- Previous Names
-
- wu:fj43a10
- zgc:92430
- Type
- protein_coding_gene
- Location
- Chr: 13 Mapping Details/Browsers
- Description
- Predicted to enable all-trans-retinol dehydrogenase (NADP+) activity. Is expressed in several structures, including brain; eye; gut; heart; and skeletal muscle cell. Human ortholog(s) of this gene implicated in Leber congenital amaurosis 13 and Leber hereditary optic neuropathy. Orthologous to several human genes including RDH11 (retinol dehydrogenase 11).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 10 figures from 3 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:92430 (9 images)
Wild Type Expression Summary
- All Phenotype Data
- 3 figures from Sarkar et al., 2021
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| la012361Tg | Transgenic insertion | Unknown | Unknown | DNA | |
| sa42241 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| zf3693 | Allele with one deletion | Exon 1 | Frameshift, Premature Stop | CRISPR |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Leber congenital amaurosis 13 | Alliance | Leber congenital amaurosis 13 | 612712 |
| ?Retinal dystrophy, juvenile cataracts, and short stature syndrome | 616108 |
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Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | NAD(P)-binding domain superfamily | Short-chain dehydrogenase/reductase SDR |
|---|---|---|---|---|
| UniProtKB:Q6DG78 | InterPro | 319 | ||
| UniProtKB:A0A8M1N061 | InterPro | 320 |
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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 | CH211-12D10 | ZFIN Curated Data | |
| Encodes | EST | fj43a10 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:92430 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:191172 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001002325 (1) | 1412 nt | ||
| Genomic | GenBank:BX470227 (1) | 177716 nt | ||
| Polypeptide | UniProtKB:A0A8M1N061 (1) | 320 aa |
| Species | Symbol | Chromosome | Accession # | Evidence |
|---|---|---|---|---|
| Human | RDH11 | 14 | Conserved genome location (synteny) (1) Amino acid sequence comparison (1) | |
| Human | RDH12 | 14 | Amino acid sequence comparison (2) Conserved genome location (synteny) (1) | |
| Mouse | Rdh11 | 12 | Conserved genome location (synteny) (1) Amino acid sequence comparison (1) | |
| Mouse | Rdh12 | 12 | Conserved genome location (synteny) (1) Amino acid sequence comparison (1) |
- Kaylor, J.J., Frederiksen, R., Bedrosian, C.K., Huang, M., Stennis-Weatherspoon, D., Huynh, T., Ngan, T., Mulamreddy, V., Sampath, A.P., Fain, G.L., Travis, G.H. (2024) RDH12 allows cone photoreceptors to regenerate opsin visual pigments from a chromophore precursor to escape competition with rods. Current biology : CB. 34(15):3342-3353.e6
- Sarkar, H., Toms, M., Moosajee, M. (2021) Involvement of Oxidative and Endoplasmic Reticulum Stress in RDH12-Related Retinopathies. International Journal of Molecular Sciences. 22(16):
- Bayés, À., Collins, M.O., Reig-Viader, R., Gou, G., Goulding, D., Izquierdo, A., Choudhary, J.S., Emes, R.D., Grant, S.G. (2017) Evolution of complexity in the zebrafish synapse proteome. Nature communications. 8:14613
- Li, C., Chen, Q., Zhang, X., Snyder, S.A., Gong, Z., Lam, S.H. (2017) An integrated approach with the zebrafish model for biomonitoring of municipal wastewater effluent and receiving waters. Water research. 131:33-44
- Zhou, S., Zhao, H., Thongda, W., Zhang, D., Su, B., Yu, D., Peatman, E., Li, C. (2016) Galectins in channel catfish, Ictalurus punctatus: Characterization and expression profiling in mucosal tissues. Fish & shellfish immunology. 49:324-35
- Elkon, R., Milon, B., Morrison, L., Shah, M., Vijayakumar, S., Racherla, M., Leitch, C.C., Silipino, L., Hadi, S., Weiss-Gayet, M., Barras, E., Schmid, C.D., Ait-Lounis, A., Barnes, A., Song, Y., Eisenman, D.J., Eliyahu, E., Frolenkov, G.I., Strome, S.E., Durand, B., Zaghloul, N.A., Jones, S.M., Reith, W., Hertzano, R. (2015) RFX transcription factors are essential for hearing in mice. Nature communications. 6:8549
- Varshney, G.K., Lu, J., Gildea, D., Huang, H., Pei, W., Yang, Z., Huang, S.C., Schoenfeld, D.S., Pho, N., Casero, D., Hirase, T., Mosbrook-Davis, D.M., Zhang, S., Jao, L.E., Zhang, B., Woods, I.G., Zimmerman, S., Schier, A.F., Wolfsberg, T., Pellegrini, M., Burgess, S.M., and Lin, S. (2013) A large-scale zebrafish gene knockout resource for the genome-wide study of gene function. Genome research. 23(4):727-735
- Choe, S.K., Zhang, X., Hirsch, N., Straubhaar, J., and Sagerström, C.G. (2011) A screen for hoxb1-regulated genes identifies ppp1r14al as a regulator of the rhombomere 4 Fgf-signaling center. Developmental Biology. 358(2):356-67
- Wang, D., Jao, L.E., Zheng, N., Dolan, K., Ivey, J., Zonies, S., Wu, X., Wu, K., Yang, H., Meng, Q., Zhu, Z., Zhang, B., Lin, S., and Burgess, S.M. (2007) Efficient genome-wide mutagenesis of zebrafish genes by retroviral insertions. Proceedings of the National Academy of Sciences of the United States of America. 104(30):12428-12433
- Nadauld, L.D., Chidester, S., Shelton, D.N., Rai, K., Broadbent, T., Sandoval, I.T., Peterson, P.W., Manos, E.J., Ireland, C.M., Yost, H.J., and Jones, D.A. (2006) Dual roles for adenomatous polyposis coli in regulating retinoic acid biosynthesis and Wnt during ocular development. Proceedings of the National Academy of Sciences of the United States of America. 103(36):13409-13414
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