Gene
pax3a
- ID
- ZDB-GENE-980526-52
- Name
- paired box 3a
- Symbol
- pax3a Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 2 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 enteric nervous system development; neural crest cell migration; and xanthophore differentiation. Located in nucleus. Is expressed in several structures, including muscle; nervous system; neural crest; neural tube; and paraxial mesoderm. Human ortholog(s) of this gene implicated in Waardenburg syndrome type 1; Waardenburg syndrome type 3; Waardenburg's syndrome; alveolar rhabdomyosarcoma; and craniofacial-deafness-hand syndrome. Orthologous to human PAX3 (paired box 3).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 73 figures from 47 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:92547 (24 images)
Wild Type Expression Summary
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| ihb872 | Allele with one deletion | Exon 2 | Unknown | CRISPR | |
| ihb873 | Allele with one delins | Exon 2 | Unknown | CRISPR | |
| la011736Tg | Transgenic insertion | Unknown | Unknown | DNA | |
| la014990Tg | Transgenic insertion | Unknown | Unknown | DNA | |
| la014991Tg | Transgenic insertion | Unknown | Unknown | DNA | |
| sa33020 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa39931 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| umu5 | Allele with one insertion | Exon 1 | Unknown | CRISPR |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| alveolar rhabdomyosarcoma | Alliance | Rhabdomyosarcoma 2, alveolar | 268220 |
| craniofacial-deafness-hand syndrome | Alliance | Craniofacial-deafness-hand syndrome | 122880 |
| Waardenburg syndrome type 1 | Alliance | Waardenburg syndrome, type 1 | 193500 |
| Waardenburg syndrome type 3 | Alliance | Waardenburg syndrome, type 3 | 148820 |
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Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Homedomain-like superfamily | Homeobox, conserved site | Homeodomain | Paired box protein 7, C-terminal | Paired DNA-binding domain | Paired domain | PAX family | Winged helix-like DNA-binding domain superfamily |
|---|---|---|---|---|---|---|---|---|---|
|
UniProtKB:O57416
|
509 | ||||||||
|
UniProtKB:A0A8M6Z8D2
|
486 | ||||||||
|
UniProtKB:A0A8M6Z068
|
487 |
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Interactions and Pathways
No data available
Plasmids
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | DKEY-20F20 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:92547 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_131277 (1) | 2734 nt | ||
| Genomic | GenBank:BX085193 (2) | 246911 nt | ||
| Polypeptide | UniProtKB:O57416 (1) | 509 aa |
- Zebrafish Nomenclature Committee (2025) Nomenclature Data Curation (2025). Nomenclature Committee Submission.
- Zhou, C., Li, M., Sun, Y., Sultan, Y., Li, X. (2024) Systematic Identification of Long Noncoding RNAs during Three Key Organogenesis Stages in Zebrafish. International Journal of Molecular Sciences. 25(6):
- Chen, Q., Wei, T., Yang, B., Li, S., Ge, L., Zhou, A., Xie, S. (2022) The Impact of Deleting the mitfa gene in Zebrafish on the Intestinal Microbiota Community. Gene. 846:146870
- Hsu, J.Y., Danis, E.P., Nance, S., O'Brien, J.H., Gustafson, A.L., Wessells, V.M., Goodspeed, A.E., Talbot, J.C., Amacher, S.L., Jedlicka, P., Black, J.C., Costello, J.C., Durbin, A.D., Artinger, K.B., Ford, H.L. (2022) SIX1 reprograms myogenic transcription factors to maintain the rhabdomyosarcoma undifferentiated state. Cell Reports. 38:110323
- Kahsay, A., Rodriguez-Marquez, E., López-Pérez, A., Hörnblad, A., von Hofsten, J. (2022) Pax3 loss of function delays tumour progression in kRAS-induced zebrafish rhabdomyosarcoma models. Scientific Reports. 12:17149
- Wang, X., Guo, H., Yu, F., Zhang, H., Peng, Y., Wang, C., Wei, G., Yan, J. (2022) Keratin5-cytoskeleton-BMP4 network regulates cell phenotype conversions during cardiac regeneration. Experimental cell research. 418(1):113272
- Watson, C.J., Tang, W.J., Rojas, M.F., Fiedler, I.A.K., Morfin Montes de Oca, E., Cronrath, A.R., Callies, L.K., Swearer, A.A., Ahmed, A.R., Sethuraman, V., Addish, S., Farr, G.H., Gómez, A.E., Rai, J., Monstad-Rios, A.T., Gardiner, E.M., Karasik, D., Maves, L., Busse, B., Hsu, Y.H., Kwon, R.Y. (2022) wnt16 regulates spine and muscle morphogenesis through parallel signals from notochord and dermomyotome. PLoS Genetics. 18:e1010496
- Mukaigasa, K., Sakuma, C., Yaginuma, H. (2021) The developmental hourglass model is applicable to the spinal cord based on single-cell transcriptomes and non-conserved cis-regulatory elements. Development, growth & differentiation. 63(7):372-391
- Nord, H., Kahsay, A., Dennhag, N., Pedrosa Domellöf, F., von Hofsten, J. (2021) Genetic compensation between Pax3 and Pax7 in zebrafish appendicular muscle formation. Developmental Dynamics : an official publication of the American Association of Anatomists. 251(9):1423-1438
- Spreafico, M., Cafora, M., Bragato, C., Capitanio, D., Marasca, F., Bodega, B., De Palma, C., Mora, M., Gelfi, C., Marozzi, A., Pistocchi, A. (2021) Targeting HDAC8 to ameliorate skeletal muscle differentiation in Duchenne muscular dystrophy. Pharmacological research. 170:105750
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