Gene
phox2ba
- ID
- ZDB-GENE-090313-51
- Name
- paired like homeobox 2Ba
- Symbol
- phox2ba Nomenclature History
- Previous Names
-
- si:ch211-157h5.5
- Type
- protein_coding_gene
- Location
- Chr: 1 Mapping Details/Browsers
- Description
- Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II transcription regulatory region sequence-specific DNA binding activity. Acts upstream of or within regulation of heart rate. Predicted to be located in nucleus. Is expressed in head. Human ortholog(s) of this gene implicated in colorectal cancer; congenital central hypoventilation syndrome; and neuroblastoma. Orthologous to human PHOX2B (paired like homeobox 2B).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from MacLean et al., 2023
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| la013586Tg | Transgenic insertion | Unknown | Unknown | DNA | |
| zko361a | Allele with one deletion | Unknown | Unknown | CRISPR | |
| zko361b | Allele with one deletion | Unknown | Unknown | CRISPR |
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| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| CRISPR1-phox2ba | China Zebrafish Resource Center (CZRC) | |
| MO1-phox2ba | N/A | MacLean et al., 2023 |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| congenital central hypoventilation syndrome | Alliance | Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease | 209880 |
| Neuroblastoma with Hirschsprung disease | 613013 | ||
| {Neuroblastoma, susceptibility to, 2} | 613013 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | Homedomain-like superfamily | Homeobox, conserved site | Homeodomain | Paired Homeobox Transcription Factors |
|---|---|---|---|---|---|---|
| UniProtKB:B8A4X8 | InterPro | 155 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
phox2ba-201
(1)
|
Ensembl | 872 nt |
Interactions and Pathways
No data available
Plasmids
No data available
| Construct | Regulatory Region | Coding Sequence | Species | Tg Lines | Citations |
|---|---|---|---|---|---|
| Tg(phox2ba:EGFP) |
|
| 1 | Feng et al., 2022 |
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| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | CH211-157H5 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001145703 (1) | |||
| Genomic | GenBank:BX323984 (1) | 177080 nt | ||
| Polypeptide | UniProtKB:B8A4X8 (1) | 155 aa |
- MacLean, J.E., Wertman, J.N., Prykhozhij, S.V., Chedrawe, E., Langley, S., Steele, S.L., Ban, K., Blake, K., Berman, J.N. (2023) phox2ba: The Potential Genetic Link behind the Overlap in the Symptomatology between CHARGE and Central Congenital Hypoventilation Syndromes. Genes. 14(5):
- Feng, G., Sun, Y. (2022) The Polycomb group gene rnf2 is essential for central and enteric neural system development in zebrafish. Frontiers in neuroscience. 16:960149
- Song, Y., Chen, W., Zhu, B., Ge, W. (2022) Disruption of Epidermal Growth Factor Receptor but Not EGF Blocks Follicle Activation in Zebrafish Ovary. Frontiers in cell and developmental biology. 9:750888
- 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
- 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
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