Gene
tbx3a
- ID
- ZDB-GENE-070209-80
- Name
- T-box transcription factor 3a
- Symbol
- tbx3a Nomenclature History
- Previous Names
-
- tbx-b
- tbx3
- tbx3b
- tbxb
- zgc:158110 (1)
- Type
- protein_coding_gene
- Location
- Chr: 5 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 embryonic heart tube development. Predicted to be active in chromatin and nucleus. Is expressed in several structures, including notochord; otic vesicle; pectoral fin bud; pericardial region; and visual system. Human ortholog(s) of this gene implicated in ulnar-mammary syndrome. Orthologous to human TBX3 (T-box transcription factor 3).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 7 figures from 6 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 2 figures from Ribeiro et al., 2007
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| mpn410Tg | Transgenic insertion | Unknown | Unknown | DNA and CRISPR | |
| sa1334 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa16346 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa18035 | Allele with one point mutation | Unknown | Missense, Premature Stop | ENU | |
| sa26643 | Allele with one point mutation | Unknown | Missense, Premature Stop | ENU | |
| sa40617 | Allele with one point mutation | Unknown | Premature Stop | ENU |
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| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| CRISPR1-tbx3a | Kölsch et al., 2020 | |
| CRISPR2-tbx3a | Lin et al., 2025 | |
| CRISPR3-tbx3a | Lin et al., 2025 | |
| MO1-tbx3a | N/A | Ribeiro et al., 2007 |
| MO2-tbx3a | N/A | Ebarasi et al., 2009 |
| MO3-tbx3a | N/A | Seifinejad et al., 2019 |
| MO4-tbx3a | N/A | Ma et al., 2022 |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| ulnar-mammary syndrome | Alliance | Ulnar-mammary syndrome | 181450 |
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Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Conserved_site | IPR018186 | Transcription factor, T-box, conserved site |
| Domain | IPR022582 | T-box transcription factor 2/3, transcription activation domain |
| Domain | IPR046360 | T-box transcription factor, DNA-binding domain |
| Domain | IPR048387 | T-box transcription factor 2/3, repressor domain |
| Family | IPR001699 | T-box transcription factor |
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Domain Details Per Protein
| Protein | Additional Resources | Length | p53-like transcription factor, DNA-binding domain superfamily | T-box superfamily | T-box transcription factor | T-box transcription factor 2/3, repressor domain | T-box transcription factor 2/3, transcription activation domain | T-box transcription factor, DNA-binding domain | Transcription factor, Brachyury | Transcription factor, T-box, conserved site |
|---|---|---|---|---|---|---|---|---|---|---|
| UniProtKB:B8JKS6 | InterPro | 689 |
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Interactions and Pathways
No data available
Plasmids
No data available
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | CH211-245E21 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:158110 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001101670 (1) | 3872 nt | ||
| Genomic | GenBank:CU181811 (2) | 129789 nt | ||
| Polypeptide | UniProtKB:B8JKS6 (1) | 689 aa |
- Lin, S.J., Huang, K., Petree, C., Qin, W., Varshney, P., Varshney, G.K. (2025) Optimizing gRNA selection for high-penetrance F0 CRISPR screening for interrogating disease gene function. Nucleic acids research. 53:
- Martin, K.E., Ravisankar, P., Beerens, M., MacRae, C.A., Waxman, J.S. (2023) Nr2f1a maintains atrial nkx2.5 expression to repress pacemaker identity within venous atrial cardiomyocytes of zebrafish. eLIFE. 12:
- Ma, J., Gu, Y., Liu, J., Song, J., Zhou, T., Jiang, M., Wen, Y., Guo, X., Zhou, Z., Sha, J., He, J., Hu, Z., Luo, L., Liu, M. (2022) Functional screening of congenital heart disease risk loci identifies 5 genes essential for heart development in zebrafish. Cellular and molecular life sciences : CMLS. 80:1919
- Knickmeyer, M.D., Mateo, J.L., Heermann, S. (2021) BMP Signaling Interferes with Optic Chiasm Formation and Retinal Ganglion Cell Pathfinding in Zebrafish. International Journal of Molecular Sciences. 22(9):
- Kölsch, Y., Hahn, J., Sappington, A., Stemmer, M., Fernandes, A.M., Helmbrecht, T.O., Lele, S., Butrus, S., Laurell, E., Arnold-Ammer, I., Shekhar, K., Sanes, J.R., Baier, H. (2020) Molecular classification of zebrafish retinal ganglion cells links genes to cell types to behavior. Neuron. 109(4):645-662.e9
- Chen, W., Bian, C., You, X., Li, J., Ye, L., Wen, Z., Lv, Y., Zhang, X., Xu, J., Yang, S., Gu, R., Lin, X., Shi, Q. (2019) Genome Sequencing of the Japanese Eel (Anguilla japonica) for Comparative Genomic Studies on tbx4 and a tbx4 Gene Cluster in Teleost Fishes. Marine drugs. 17(7)
- Richardson, R., Owen, N., Toms, M., Young, R.M., Tracey-White, D., Moosajee, M. (2019) Transcriptome profiling of zebrafish optic fissure fusion. Scientific Reports. 9:1541
- Rougeot, J., Chrispijn, N.D., Aben, M., Elurbe, D.M., Andralojc, K.M., Murphy, P.J., Jansen, P.W.T.C., Vermeulen, M., Cairns, B.R., Kamminga, L.M. (2019) Maintenance of spatial gene expression by Polycomb-mediated repression after formation of a vertebrate body plan. Development (Cambridge, England). 146(19):
- Seifinejad, A., Li, S., Mikhail, C., Vassalli, A., Pradervand, S., Arribat, Y., Pezeshgi Modarres, H., Allen, B., John, R.M., Amati, F., Tafti, M. (2019) Molecular codes and in vitro generation of hypocretin and melanin concentrating hormone neurons. Proceedings of the National Academy of Sciences of the United States of America. 116(34):17061-17070
- Johnstone, T.G., Bazzini, A.A., Giraldez, A.J. (2016) Upstream ORFs are prevalent translational repressors in vertebrates. The EMBO journal. 35:706-23
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