Gene
rx3
- ID
- ZDB-GENE-990415-238
- Name
- retinal homeobox gene 3
- Symbol
- rx3 Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 21 Mapping Details/Browsers
- Description
- Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Acts upstream of or within several processes, including camera-type eye development; diencephalon development; and neural crest cell migration. Predicted to be located in nucleus. Is expressed in several structures, including forebrain; neural keel; neural plate; presumptive neural plate; and retina. Human ortholog(s) of this gene implicated in isolated microphthalmia 3. Orthologous to human RAX (retina and anterior neural fold homeobox).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 86 figures from 54 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 22 figures from 12 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Allele | Type | Localization | Consequence | Mutagen | Supplier |
---|---|---|---|---|---|
hu499 | Allele with one point mutation | Unknown | Missense | ENU | |
ne2611 | Allele with one point mutation | Exon 2 | Missense | ENU | |
rx3_unspecified | Unspecified Allele | Unknown | Unknown | not specified | |
s399 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
sa29528 | Allele with one point mutation | Unknown | Splice Site | ENU | |
t25181 | Allele with one point mutation | Unknown | Missense | ENU | |
t25327 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
w29 | Allele with one point mutation | Exon 2 | Premature Stop | ENU |
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Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
isolated microphthalmia 3 | Alliance | Microphthalmia, syndromic 16 | 611038 |
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Domain, Family, and Site Summary
Domain Details Per Protein
Protein | Additional Resources | Length | Homedomain-like superfamily | Homeobox, conserved site | Homeodomain | OAR domain | Retinal homeobox protein RAX/RAX2 |
---|---|---|---|---|---|---|---|
UniProtKB:O42358 | InterPro | 292 |
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Interactions and Pathways
No data available
Plasmids
No data available
Construct | Regulatory Region | Coding Sequence | Species | Tg Lines | Citations |
---|---|---|---|---|---|
Tg(rx3:Kaede) |
|
| 1 | Samuel et al., 2016 |
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Relationship | Marker Type | Marker | Accession Numbers | Citations |
---|---|---|---|---|
Contained in | BAC | CH211-233A1 | ZFIN Curated Data | |
Encodes | cDNA | MGC:195183 | ZFIN Curated Data | |
Encodes | cDNA | MGC:195186 | ZFIN Curated Data |
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Type | Accession # | Sequence | Length (nt/aa) | Analysis |
---|---|---|---|---|
RNA | RefSeq:NM_131227 (1) | 1322 nt | ||
Genomic | GenBank:BX248399 (2) | 158884 nt | ||
Polypeptide | UniProtKB:O42358 (1) | 292 aa |
- Lin, S.J., Huang, K., Petree, C., Qin, W., Varshney, P., Varshney, G.K. (2025) Optimizing gRNA selection for high-penetrance F0 CRISPR screening for interrogating disease gene function. Nucleic acids research. 53:
- Moreno-Sánchez, I., Hernández-Huertas, L., Nahón-Cano, D., Martínez-García, P.M., Treichel, A.J., Gómez-Marin, C., Tomás-Gallardo, L., da Silva Pescador, G., Kushawah, G., Egidy, R., Perera, A., Díaz-Moscoso, A., Cano-Ruiz, A., Walker, J.A., Muñoz, M.J., Holden, K., Galcerán, J., Nieto, M.Á., Bazzini, A.A., Moreno-Mateos, M.A. (2025) Enhanced RNA-targeting CRISPR-Cas technology in zebrafish. Nature communications. 16:25912591
- Cortés-González, V., Rodriguez-Morales, M., Ataliotis, P., Mayer, C., Plaisancié, J., Chassaing, N., Lee, H., Rozet, J.M., Cavodeassi, F., Fares Taie, L. (2024) Homozygosity for a hypomorphic mutation in frizzled class receptor 5 causes syndromic ocular coloboma with microcornea in humans. Human genetics. 143(12):1509-1521
- Bulk, J., Kyrychenko, V., Rensinghoff, P.M., Ghaderi Ardekani, Z., Heermann, S. (2023) Holoprosencephaly with a Special Form of Anophthalmia Result from Experimental Induction of bmp4, Oversaturating BMP Antagonists in Zebrafish. International Journal of Molecular Sciences. 24(9):
- Herget, U., Ryu, S., De Marco, R.J. (2023) Altered glucocorticoid reactivity and behavioral phenotype in rx3-/- larval zebrafish. Frontiers in endocrinology. 14:11873271187327
- Letelier, J., Buono, L., Almuedo-Castillo, M., Zang, J., Mounieres, C., González-Díaz, S., Polvillo, R., Sanabria-Reinoso, E., Corbacho, J., Sousa-Ortega, A., Diez Del Corral, R., Neuhauss, S.C.F., Martínez-Morales, J.R. (2023) Mutation of vsx genes in zebrafish highlights the robustness of the retinal specification network. eLIFE. 12:
- Wysocka, E., Gonicka, A., Anbalagan, S. (2023) CRISPR-Cas9 F0 knockout approach using predesigned in vitro transcribed guide RNAs partially recapitulates Rx3 function in eye morphogenesis. Journal of genetics. 102:
- Hernández-Bejarano, M., Gestri, G., Monfries, C., Tucker, L., Dragomir, E.I., Bianco, I.H., Bovolenta, P., Wilson, S.W., Cavodeassi, F. (2022) Foxd1-dependent induction of a temporal retinal character is required for visual function. Development (Cambridge, England). 149(24):
- Okada, K., Aoki, K., Tabei, T., Sugio, K., Imai, K., Bonkohara, Y., Kamachi, Y. (2022) Key sequence features of CRISPR RNA for dual-guide CRISPR-Cas9 ribonucleoprotein complexes assembled with wild-type or HiFi Cas9. Nucleic acids research. 50(5):2854-2871
- Brown, S.J., Boussaad, I., Jarazo, J., Fitzgerald, J.C., Antony, P., Keatinge, M., Blechman, J., Schwamborn, J.C., Krüger, R., Placzek, M., Bandmann, O. (2021) PINK1 deficiency impairs adult neurogenesis of dopaminergic neurons. Scientific Reports. 11:6617
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