Gene
nr2e3
- ID
- ZDB-GENE-041114-63
- Name
- nuclear receptor subfamily 2, group E, member 3
- Symbol
- nr2e3 Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 25 Mapping Details/Browsers
- Description
- Predicted to enable RNA polymerase II cis-regulatory region sequence-specific DNA binding activity and nuclear receptor activity. Involved in photoreceptor cell maintenance and retinal rod cell differentiation. Acts upstream of or within pineal gland development. Located in nucleus. Is expressed in several structures, including diencephalon; optic vesicle; presumptive diencephalon; presumptive neural retina; and visual system. Human ortholog(s) of this gene implicated in enhanced S-cone syndrome and retinitis pigmentosa 37. Orthologous to human NR2E3 (nuclear receptor subfamily 2 group E member 3).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 42 figures from 22 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:103631 (20 images)
- MGC:103631 (26 images)
Wild Type Expression Summary
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| fh342 | Allele with one point mutation | Unknown | Unknown | ENU | |
| fh343 | Allele with one point mutation | Unknown | Unknown | ENU | |
| hzu9 | Allele with one deletion | Exon 4 | Unknown | CRISPR | |
| nr2e3_unrecovered | Allele with one point mutation | Unknown | Unknown | ENU | |
| sa15662 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa30255 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| zf3130 | Allele with one deletion | Exon 4 | Frameshift | CRISPR |
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| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| CRISPR1-nr2e3 | (2) | |
| CRISPR2-nr2e3 | Angueyra et al., 2023 | |
| CRISPR3-nr2e3 | Angueyra et al., 2023 | |
| MO1-nr2e3 | N/A | Khuansuwan et al., 2016 |
| MO2-nr2e3 | N/A | (2) |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| enhanced S-cone syndrome | Alliance | Enhanced S-cone syndrome | 268100 |
| retinitis pigmentosa 37 | Alliance | Retinitis pigmentosa 37 | 611131 |
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Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR000536 | Nuclear hormone receptor, ligand-binding domain |
| Domain | IPR001628 | Zinc finger, nuclear hormone receptor-type |
| Family | IPR001723 | Nuclear hormone receptor |
| Family | IPR050274 | Nuclear hormone receptor family NR2 subfamily |
| Homologous_superfamily | IPR013088 | Zinc finger, NHR/GATA-type |
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Domain Details Per Protein
| Protein | Length | Nuclear hormone receptor | Nuclear hormone receptor family NR2 subfamily | Nuclear hormone receptor, ligand-binding domain | Nuclear hormone receptor-like domain superfamily | Zinc finger, NHR/GATA-type | Zinc finger, nuclear hormone receptor-type |
|---|---|---|---|---|---|---|---|
|
UniProtKB:Q5U3F3
|
419 |
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Interactions and Pathways
No data available
Plasmids
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | DKEYP-91C1 | ZFIN Curated Data | |
| Encodes | EST | fj55b07 | ||
| Encodes | cDNA | MGC:103631 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:173759 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:191964 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001007368 (1) | 2058 nt | ||
| Genomic | GenBank:AL929050 (1) | 196743 nt | ||
| Polypeptide | UniProtKB:Q5U3F3 (1) | 419 aa |
- Neil, G.J., Kluttig, K.H., Allison, W.T. (2024) Determining Photoreceptor Cell Identity: Rod Versus Cone Fate Governed by tbx2b Opposing nrl. Investigative ophthalmology & visual science. 65:3939
- Angueyra, J.M., Kunze, V.P., Patak, L.K., Kim, H., Kindt, K., Li, W. (2023) Transcription factors underlying photoreceptor diversity. eLIFE. 12:
- Dai, X., Pradhan, A., Liu, J., Liu, R., Zhai, G., Zhou, L., Dai, J., Shao, F., Yuan, Z., Wang, Z., Yin, Z. (2023) Zebrafish gonad mutant models reveal neuroendocrine mechanisms of brain sexual dimorphism and male mating behaviors of different brain regions. Biology of sex differences. 14:5353
- Connor, B., Titialii-Torres, K., Rockenhaus, A.E., Passamonte, S., Morris, A.C., Lee, Y.S. (2022) Biliverdin regulates NR2E3 and zebrafish retinal photoreceptor development. Scientific Reports. 12:7310
- Liu, F., Qin, Y., Huang, Y., Gao, P., Li, J., Yu, S., Jia, D., Chen, X., Lv, Y., Tu, J., Sun, K., Han, Y., Reilly, J., Shu, X., Lu, Q., Tang, Z., Xu, C., Luo, D., Liu, M. (2022) Rod genesis driven by mafba in an nrl knockout zebrafish model with altered photoreceptor composition and progressive retinal degeneration. PLoS Genetics. 18:e1009841
- Coomer, C.E., Wilson, S.G., Titialii-Torres, K.F., Bills, J.D., Krueger, L.A., Petersen, R.A., Turnbaugh, E.M., Janesch, E.L., Morris, A.C. (2020) Her9/Hes4 is required for retinal photoreceptor development, maintenance, and survival. Scientific Reports. 10:11316
- Oel, A.P., Neil, G.J., Dong, E.M., Balay, S.D., Collett, K., Allison, W.T. (2020) Nrl Is Dispensable for Specification of Rod Photoreceptors in Adult Zebrafish Despite Its Deeply Conserved Requirement Earlier in Ontogeny. iScience. 23:101805
- Wang, M., Du, L., Lee, A.C., Li, Y., Qin, H., He, J. (2020) Different lineage contexts direct common pro-neural factors to specify distinct retinal cell subtypes. The Journal of cell biology. 219(9):
- Xu, B., Tang, X., Jin, M., Zhang, H., Du, L., Yu, S., He, J. (2020) Unifying Developmental Programs for Embryonic and Post-Embryonic Neurogenesis in the Zebrafish Retina. Development (Cambridge, England). 147(12):
- Xie, S., Han, S., Qu, Z., Liu, F., Li, J., Yu, S., Reilly, J., Tu, J., Liu, X., Lu, Z., Hu, X., Yimer, T.A., Qin, Y., Huang, Y., Lv, Y., Jiang, T., Shu, X., Tang, Z., Jia, H., Wong, F., Liu, M. (2019) Knockout of Nr2e3 prevents rod photoreceptor differentiation and leads to selective L-/M-cone photoreceptor degeneration in zebrafish. Biochimica et biophysica acta. Molecular basis of disease. 1865(6):1273-1283
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