Gene
vsx2
- ID
- ZDB-GENE-001222-1
- Name
- visual system homeobox 2
- Symbol
- vsx2 Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 17 Mapping Details/Browsers
- Description
- Enables sequence-specific DNA binding activity. Acts upstream of or within negative regulation of transcription by RNA polymerase II and regulation of neural retina development. Predicted to be active in nucleus. Is expressed in head; nervous system; neural tube; optic cup; and optic vesicle. Human ortholog(s) of this gene implicated in blindness and isolated microphthalmia 2. Orthologous to human VSX2 (visual system homeobox 2).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 70 figures from 40 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:66294 (9 images)
Wild Type Expression Summary
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| upo372 | Allele with one deletion | Unknown | Unknown | CRISPR |
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| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| CRISPR1-vsx2 | Letelier et al., 2023 | |
| CRISPR2-vsx2 | Letelier et al., 2023 | |
| MO1-vsx2 | N/A | Clark et al., 2008 |
| MO2-vsx2 | N/A | Vitorino et al., 2009 |
| MO3-vsx2 | N/A | (3) |
| MO4-vsx2 | N/A | Vitorino et al., 2009 |
| MO5-vsx2 | N/A | Gago-Rodrigues et al., 2015 |
| MO6-vsx2 | N/A | (2) |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| isolated microphthalmia 2 | Alliance | Microphthalmia, isolated 2 | 610093 |
| Microphthalmia/coloboma 3 | 610092 |
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Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | CVC domain | Homedomain-like superfamily | Homeobox, conserved site | Homeodomain | OAR domain | Visual system homeobox transcriptional regulators |
|---|---|---|---|---|---|---|---|
|
UniProtKB:F1QQE7
|
372 | ||||||
|
UniProtKB:O42477
|
393 | ||||||
|
UniProtKB:A0A8M2B589
|
393 |
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Interactions and Pathways
No data available
| Name | Type | Antigen Genes | Isotype | Host Organism | Assay | Source | Citations |
|---|---|---|---|---|---|---|---|
| Ab1-vsx2 | polyclonal | IgG | Sheep |
|
Exalpha Biologicals, Inc
|
1 |
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Plasmids
No data available
| Construct | Regulatory Region | Coding Sequence | Species | Tg Lines | Citations |
|---|---|---|---|---|---|
| TgBAC(vsx2:EGFP) |
|
| 1 | (48) | |
| Tg(vsx2:LOXP-DsRed-LOXP-GFP) |
|
| 1 | (19) | |
| TgBAC(vsx2:GAL4FF) |
|
| 1 | (14) | |
| Tg(vsx2:Cre) |
|
| 1 | Abdelfattah et al., 2019 | |
| Tg(vsx2:GAL4-VP16) |
|
| 1 | (6) | |
| Tg(vsx2:GFP) |
|
| 1 | Zebrafish Nomenclature Committee | |
| Tg(vsx2:GFP-CAAX) |
|
| 2 | (4) | |
| Tg(vsx2:Kaede) |
|
| 1 | (11) |
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| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | DKEY-202B14 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:66294 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:85859 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:191377 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_131462 (1) | 1712 nt | ||
| Genomic | GenBank:BX005320 (1) | 142827 nt | ||
| Polypeptide | UniProtKB:A0A8M2B589 (1) | 393 aa |
- 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
- England, S.J., Rusnock, A.K., Mujcic, A., Kowalchuk, A., de Jager, S., Hilinski, W.C., Juárez-Morales, J.L., Smith, M.E., Grieb, G., Banerjee, S., Lewis, K.E. (2023) Molecular analyses of zebrafish V0v spinal interneurons and identification of transcriptional regulators downstream of Evx1 and Evx2 in these cells. Neural Development. 18:88
- 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:
- Sun, K., Han, Y., Li, J., Yu, S., Huang, Y., Zhang, Y., Reilly, J., Tu, J., Gao, P., Jia, D., Chen, X., Hu, H., Ren, M., Li, P., Luo, J., Ren, X., Zhang, X., Shu, X., Liu, F., Liu, M., Tang, Z. (2023) The splicing factor DHX38 enables retinal development through safeguarding genome integrity. iScience. 26:108103108103
- Hehr, C.L., Halabi, R., McFarlane, S. (2022) Spatial regulation of amacrine cell genesis by Semaphorin 3f. Developmental Biology. 491:66-81
- Huang, C.X., Wang, Z., Cheng, J., Zhu, Z., Guan, N.N., Song, J. (2022) De novo establishment of circuit modules restores locomotion after spinal cord injury in adult zebrafish. Cell Reports. 41:111535
- Laureano, A.S., Flaherty, K., Hinman, A.M., Jadali, A., Nakamura, T., Higashijima, S.I., Sabaawy, H.E., Kwan, K.Y. (2022) shox2 is required for vestibular statoacoustic neuron development. Biology Open. 11(12):
- Wongkittichote, P., Choi, T.I., Kim, O.H., Riley, K., Koeberl, D., Narayanan, V., Ramsey, K., Balak, C., Schwartz, C., Cueto-Gonzalez, A.M., Munell Casadesus, F., Kim, C.H., Shinawi, M.S. (2022) Expanding allelic and phenotypic spectrum of ZC4H2-related disorder: a novel hypomorphic variant and high prevalence of tethered cord. Clinical genetics. 103(2):167-178
- Buono, L., Corbacho, J., Naranjo, S., Almuedo-Castillo, M., Moreno-Marmol, T., de la Cerda, B., Sanbria-Reinoso, E., Polvillo, R., Díaz-Corrales, F.J., Bogdanovic, O., Bovolenta, P., Martínez-Morales, J.R. (2021) Analysis of gene network bifurcation during optic cup morphogenesis in zebrafish. Nature communications. 12:3866
- Guo, R., Ge, K., Wang, Y., Lu, M., Li, F., Tian, L., Gan, L., Sheng, D. (2021) LIM Homeobox 4 (lhx4) regulates retinal neural differentiation and visual function in zebrafish. Scientific Reports. 11:1977
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