Gene
tbx2a
- ID
- ZDB-GENE-990917-4
- Name
- T-box transcription factor 2a
- Symbol
- tbx2a Nomenclature History
- Previous Names
-
- tbx-a
- tbxa
- zgc:85705
- 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 several processes, including enteric nervous system development; heart development; and kidney development. Predicted to be active in chromatin and nucleus. Is expressed in several structures, including digestive system; mesoderm; nervous system; pericardial region; and pronephros. Human ortholog(s) of this gene implicated in atrial heart septal defect; heart septal defect; and vertebral anomalies and variable endocrine and T-cell dysfunction. Orthologous to human TBX2 (T-box transcription factor 2).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 26 figures from 13 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:7156816 (7 images)
Wild Type Expression Summary
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| sa31478 | Allele with one point mutation | Unknown | Splice Site | ENU |
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| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| CRISPR1-tbx2a | Kuil et al., 2021 | |
| CRISPR2-tbx2a | Angueyra et al., 2023 | |
| CRISPR3-tbx2a | Angueyra et al., 2023 | |
| CRISPR4-tbx2a | Angueyra et al., 2023 | |
| MO1-tbx2 | N/A | (3) |
| MO1-tbx2a | N/A | (3) |
| MO2-tbx2a | N/A | Sedletcaia et al., 2011 |
| MO3-tbx2a | N/A | Thi Thu et al., 2013 |
| MO4-tbx2a | N/A | (2) |
| MO5-tbx2a | N/A | Thi Thu et al., 2013 |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| vertebral anomalies and variable endocrine and T-cell dysfunction | Alliance | Vertebral anomalies and variable endocrine and T-cell dysfunction | 618223 |
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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:B0R122 | InterPro | 686 | ||||||||
| UniProtKB:A0A8M2BCU2 | InterPro | 690 |
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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 | CH211-199D18 | ZFIN Curated Data | |
| Encodes | EST | IMAGE:7156816 | Thisse et al., 2004 | |
| Encodes | cDNA | MGC:85705 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001102384 (1) | 3514 nt | ||
| Genomic | RefSeq:NW_018394614 (1) | 302489 nt | ||
| Polypeptide | UniProtKB:A0A8M2BCU2 (1) | 690 aa |
- Volkov, L.I., Ogawa, Y., Somjee, R., Vedder, H.E., Powell, H.E., Poria, D., Meiselman, S., Kefalov, V.J., Corbo, J.C. (2024) Samd7 represses short-wavelength cone genes to preserve long-wavelength cone and rod photoreceptor identity. Proceedings of the National Academy of Sciences of the United States of America. 121:e2402121121e2402121121
- Angueyra, J.M., Kunze, V.P., Patak, L.K., Kim, H., Kindt, K., Li, W. (2023) Transcription factors underlying photoreceptor diversity. eLIFE. 12:
- Weaver, N.E., Healy, A., Wingert, R.A. (2022) gldc Is Essential for Renal Progenitor Patterning during Kidney Development. Biomedicines. 10(12):
- Gasanov, E.V., Jędrychowska, J., Kuźnicki, J., Korzh, V. (2021) Evolutionary context can clarify gene names: Teleosts as a case study. BioEssays : news and reviews in molecular, cellular and developmental biology. 43(6):e2000258
- Katraki-Pavlou, S., Kastana, P., Bousis, D., Ntenekou, D., Varela, A., Davos, C.H., Nikou, S., Papadaki, E., Tsigkas, G., Athanasiadis, E., Herradon, G., Mikelis, C.M., Beis, D., Papadimitriou, E. (2021) Protein tyrosine phosphatase receptor zeta 1 deletion triggers defective heart morphogenesis in mice and zebrafish. American journal of physiology. Heart and circulatory physiology. 322(1):H8-H24
- Kuil, L.E., MacKenzie, K.C., Tang, C.S., Windster, J.D., Le, T.L., Karim, A., de Graaf, B.M., van der Helm, R., van Bever, Y., Sloots, C.E.J., Meeussen, C., Tibboel, D., de Klein, A., Wijnen, R.M.H., Amiel, J., Lyonnet, S., Garcia-Barcelo, M.M., Tam, P.K.H., Alves, M.M., Brooks, A.S., Hofstra, R.M.W., Brosens, E. (2021) Size matters: Large copy number losses in Hirschsprung disease patients reveal genes involved in enteric nervous system development. PLoS Genetics. 17:e1009698
- Ogawa, Y., Corbo, J.C. (2021) Partitioning of gene expression among zebrafish photoreceptor subtypes. Scientific Reports. 11:17340
- Pillay, S., Takahashi, H., Carninci, P., Kanhere, A. (2021) Antisense RNAs during early vertebrate development are divided in groups with distinct features. Genome research. 31(6):995-1010
- Demirci, Y., Cucun, G., Poyraz, Y.K., Mohammed, S., Heger, G., Papatheodorou, I., Ozhan, G. (2020) Comparative Transcriptome Analysis of the Regenerating Zebrafish Telencephalon Unravels a Resource With Key Pathways During Two Early Stages and Activation of Wnt/β-Catenin Signaling at the Early Wound Healing Stage. Frontiers in cell and developmental biology. 8:584604
- Xu, B., Tang, X., Jin, M., Zhang, H., Du, L., Yu, S., He, J. (2020) Unifying Developmental Programs for Embryonic and Post-Embryonic Neurogenesis in the Zebrafish Retina. Development (Cambridge, England). 147(12):
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