Gene
otx2b
- ID
- ZDB-GENE-980526-406
- Name
- orthodenticle homeobox 2b
- Symbol
- otx2b Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 17 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 brain development; cellular response to alcohol; and retinal pigment epithelium development. Predicted to be active in nucleus. Is expressed in several structures, including immature eye; nervous system; neural keel; neural plate; and presumptive structure. Human ortholog(s) of this gene implicated in combined pituitary hormone deficiency 6 and syndromic microphthalmia 5. Orthologous to human OTX2 (orthodenticle homeobox 2).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 265 figures from 189 publications
- 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 |
|---|---|---|---|---|---|
| hu3237 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| hu3625 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa36505 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| tud40Tg | Transgenic insertion | Unknown | Unknown | DNA and CRISPR | |
| tud41Tg | Transgenic insertion | Unknown | Unknown | DNA and CRISPR | |
| tud44a | Allele with one insertion | 5' UTR | Unknown | CRISPR | |
| tud44Tg | Transgenic insertion | Unknown | Unknown | DNA and CRISPR | |
| tud46Tg | Transgenic insertion | Unknown | Unknown | DNA and CRISPR | |
| tud47Tg | Transgenic insertion | Unknown | Unknown | DNA and CRISPR |
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| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| CRISPR1-otx2b | (5) | |
| CRISPR2-otx2b | Okada et al., 2022 | |
| CRISPR3-otx2b | Okada et al., 2022 | |
| MO1-otx2b | N/A | (8) |
| MO2-otx2b | N/A | (2) |
| MO3-otx2b | N/A | Chassaing et al., 2012 |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| combined pituitary hormone deficiency 6 | Alliance | Pituitary hormone deficiency, combined, 6 | 613986 |
| syndromic microphthalmia 5 | Alliance | Microphthalmia, syndromic 5 | 610125 |
| syndromic microphthalmia 5 | Alliance | Retinal dystrophy, early-onset, with or without pituitary dysfunction | 610125 |
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Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | Homedomain-like superfamily | Homeobox, conserved site | Homeodomain | Transcription factor Otx | Transcription factor Otx2 | Transcription factor Otx, C-terminal |
|---|---|---|---|---|---|---|---|---|
| UniProtKB:Q1RM25 | InterPro | 289 | ||||||
| UniProtKB:Q91981 | InterPro | 289 |
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Interactions and Pathways
No data available
Plasmids
No data available
| Construct | Regulatory Region | Coding Sequence | Species | Tg Lines | Citations |
|---|---|---|---|---|---|
| Tg(otx2b:EGFP) |
|
| 1 | (2) | |
| Tg(otx2b:Cre-ERT2) |
|
| 1 | (3) | |
| Tg(otx2b:mKate2) |
|
| 1 | Kesavan et al., 2020 | |
| Tg(otx2b:tRFP) |
|
| 1 | Kesavan et al., 2017 | |
| Tg(otx2b:Venus) |
|
| 1 | (3) | |
| Tg(otx2b:Venus-NLS) |
|
| 1 | Kesavan et al., 2020 |
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| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | DKEY-166F24 | ZFIN Curated Data | |
| Encodes | EST | ibd2915 | Kudoh et al., 2001 | |
| Encodes | cDNA | MGC:136535 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:191828 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_131251 (1) | 2161 nt | ||
| Genomic | GenBank:CR936482 (2) | 39394 nt | ||
| Polypeptide | UniProtKB:Q1RM25 (1) | 289 aa |
- Mai, J., Yang, L., Wang, M., Deng, J.M., Min, M., Xie, H.J., Jiang, Y.M., Sun, H.Q., Liu, X.J. (2025) Elevated Serum Homocysteine Levels Impair Embryonic Neurodevelopment by Dysregulating the Heat Shock Proteins. Developmental Neurobiology. 85:e22958e22958
- Casey, M.J., Chan, P.P., Li, Q., Zu, J.F., Jette, C.A., Kohler, M., Myers, B.R., Stewart, R.A. (2024) A simple and scalable zebrafish model of Sonic hedgehog medulloblastoma. Cell Reports. 43:114559114559
- Jing, Y., Luo, Y., Li, L., Liu, M., Liu, J.X. (2024) Deficiency of copper responsive gene stmn4 induces retinal developmental defects. Cell biology and toxicology. 40:22
- Maekawa, M., Saito, S., Isobe, D., Takemoto, K., Miura, Y., Dobashi, Y., Yamasu, K. (2024) The Oct4-related PouV gene, pou5f3, mediates isthmus development in zebrafish by directly and dynamically regulating pax2a. Cells & development. 179:203933
- Zhao, S., Wang, C., Luo, H., Li, F., Wang, Q., Xu, J., Huang, Z., Liu, W., Zhang, W. (2024) A role for Retinoblastoma 1 in hindbrain morphogenesis by regulating GBX family. Journal of genetics and genomics = Yi chuan xue bao. 51(9):900-910
- Liao, T., Xu, X., Wu, J., Xie, Y., Yan, J. (2023) Increased expression levels of DLX5 inhibit the development of the nervous system. International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience. 83(8):728-739
- Gao, M., Hu, J., Zhu, Y., Wang, X., Zeng, S., Hong, Y., Zhao, G. (2022) Ferroptosis and Apoptosis Are Involved in the Formation of L-Selenomethionine-Induced Ocular Defects in Zebrafish Embryos. International Journal of Molecular Sciences. 23(9)
- Kantha, P., Liu, S.T., Horng, J.L., Lin, L.Y. (2022) Acute exposure to polystyrene nanoplastics impairs skin cells and ion regulation in zebrafish embryos. Aquatic toxicology (Amsterdam, Netherlands). 248:106203
- Liu, Y., Lin, Z., Peng, Y., Jiang, Y., Zhang, X., Zhu, H., Zhang, L., Chen, J., Shu, X., Luo, M., Xie, D., Chen, Y., Liao, H., Liu, M., Zhang, X., Liu, S., Wang, H., Zhou, B., Sun, H. (2022) Embryonic organizer formation disorder leads to multiorgan dysplasia in Down syndrome. Cell Death & Disease. 13:10541054
- 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
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