Gene
phox2bb
- ID
- ZDB-GENE-050407-3
- Name
- paired like homeobox 2Bb
- Symbol
- phox2bb Nomenclature History
- Previous Names
-
- phox2b
- Type
- protein_coding_gene
- Location
- Chr: 14 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 axonogenesis; enteric nervous system development; and sympathetic ganglion development. Predicted to be located in nucleus. Is expressed in several structures, including digestive system; mesenchyme pectoral fin; nervous system; neuroepithelial cell; and presumptive enteric nervous system. 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
- 68 figures from 36 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
Phenotype Summary
Mutations
No data available
| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| MO1-phox2bb | N/A | (2) |
| MO2-phox2bb | N/A | Elworthy et al., 2005 |
| MO3-phox2bb | N/A | (2) |
| MO4-phox2bb | N/A | Pei et al., 2013 |
| MO5-phox2bb | 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 |
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Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Homedomain-like superfamily | Homeobox, conserved site | Homeodomain | Paired Homeobox Transcription Factors |
|---|---|---|---|---|---|
|
UniProtKB:Q5I7G4
|
284 |
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| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
phox2bb-201
(1)
|
Ensembl | 3,956 nt | ||
| mRNA |
phox2bb-202
(1)
|
Ensembl | 2,197 nt | ||
| mRNA |
phox2bb-203
(1)
|
Ensembl | 1,004 nt |
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Interactions and Pathways
No data available
| Name | Type | Antigen Genes | Isotype | Host Organism | Assay | Source | Citations |
|---|---|---|---|---|---|---|---|
| Ab1-phox2bb | polyclonal | Rabbit |
|
2 | |||
| Ab2-phox2bb | polyclonal | Guinea pig |
|
1 |
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Plasmids
No data available
| Construct | Regulatory Region | Coding Sequence | Species | Tg Lines | Citations |
|---|---|---|---|---|---|
| Tg2(phox2bb:EGFP) |
|
| 1 | (26) | |
| Tg(-8.3phox2bb:Kaede) |
|
| 1 | (12) | |
| Tg(phox2bb:EGFP) |
|
| 13 | (3) | |
| Tg(phox2bb:GAL4-VP16,myl7:Cerulean) |
|
| 1 | (5) |
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| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | CH73-77D24 | ZFIN Curated Data | |
| Contained in | BAC | DKEYP-50C7 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:194287 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:194293 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001014818 (1) | 2164 nt | ||
| Genomic | GenBank:CT963086 (2) | 84517 nt | ||
| Polypeptide | UniProtKB:Q5I7G4 (1) | 284 aa |
- Ibarra-García-Padilla, R., Nambiar, A., Hamre, T.A., Singleton, E.W., Uribe, R.A. (2024) Expansion of a neural crest gene signature following ectopic MYCN expression in sympathoadrenal lineage cells in vivo. PLoS One. 19:e0310727e0310727
- Roychaudhury, A., Lee, Y.R., Choi, T.I., Thomas, M.G., Kahn, T.N., Yousaf, H., Skinner, C., Maconachie, G., Crosier, M., Horak, H., Constantinescu, C.S., Kim, T.Y., Lee, K.H., Kyung, J.J., Wang, T., Ku, B., Chodirker, B.N., Hammer, M.F., Gottlob, I., Norton, W.H.J., Gorlei, R., Kim, H.G., Graziano, C., Pippucci, T., Lovino, E., Montanari, F., Severi, G., Toro, C., Boerkoel, C.F., Cha, H.S., Choi, C.Y., Kim, S., Yoon, J.Y., Gilmore, K., Vora, N.L., Davis, E.E., Chudley, A.E., Schwartz, C.E., and Kim, C.H. (2024) SRPK3 Is Essential for Cognitive and Ocular Development in Humans and Zebrafish, Explaining X-Linked Intellectual Disability. Annals of neurology. 96(5):914-931
- Kuil, L.E., Kakiailatu, N.J.M., Windster, J.D., Bindels, E., Zink, J.T.M., van der Zee, G., Hofstra, R.M.W., Shepherd, I.T., Melotte, V., Alves, M.M. (2023) Unbiased characterization of the larval zebrafish enteric nervous system at a single cell transcriptomic level. iScience. 26:107070107070
- 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):
- Zhang, J., Li, P., Sun, L., Jiang, N., Guo, W., Wang, J., Gao, F., Li, J., Li, H., Zhang, J., Mu, H., Hu, Y., Cui, X. (2023) Knockout of miR-184 in zebrafish leads to ocular abnormalities by elevating p21 levels. FASEB journal : official publication of the Federation of American Societies for Experimental Biology. 37:e22927e22927
- Alhashem, Z., Feldner-Busztin, D., Revell, C., Alvarez-Garcillan Portillo, M., Camargo-Sosa, K., Richardson, J., Rocha, M., Gauert, A., Corbeaux, T., Milanetto, M., Argenton, F., Tiso, N., Kelsh, R., Prince, V.E., Bentley, K., Linker, C. (2022) Notch controls the cell cycle to define leader versus follower identities during collective cell migration. eLIFE. 11:
- 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
- Hayot, G., Massonot, M., Keime, C., Faure, E., Golzio, C. (2022) Loss of autism-candidate CHD8 perturbs neural crest development and intestinal homeostatic balance. Life science alliance. 6(1):
- Howard, A.G.A., Nguyen, A.C., Tworig, J., Ravisankar, P., Singleton, E.W., Li, C., Kotzur, G., Waxman, J.S., Uribe, R.A. (2022) Elevated Hoxb5b Expands Vagal Neural Crest Pool and Blocks Enteric Neuronal Development in Zebrafish. Frontiers in cell and developmental biology. 9:803370
- Rea, V., Bell, I., Ball, T., Van Raay, T. (2022) Gut-derived metabolites influence neurodevelopmental gene expression and Wnt signaling events in a germ-free zebrafish model. Microbiome. 10:132
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