Gene
tbx6
- ID
- ZDB-GENE-020416-5
- Name
- T-box transcription factor 6
- Symbol
- tbx6 Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 12 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 regulation of skeletal muscle tissue development; somatic motor neuron differentiation; and somitogenesis. Located in chromatin. Is expressed in several structures, including margin; mesoderm; presumptive mesoderm; tail bud; and trunk. Used to study scoliosis. Human ortholog(s) of this gene implicated in spondylocostal dysostosis 5. Orthologous to human TBX6 (T-box transcription factor 6).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 70 figures from 41 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- eu421 (8 images)
Wild Type Expression Summary
- All Phenotype Data
- 44 figures from 20 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| m774 | unknown | Unknown | Unknown | spontaneous | |
| sa17875 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa38869 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa41936 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sud102 | Allele with one deletion | Unknown | Unknown | TALEN | |
| sud103 | Allele with one deletion | Unknown | Unknown | TALEN | |
| sud104 | Allele with one deletion | Unknown | Unknown | CRISPR | |
| sud105 | Allele with one deletion | Unknown | Unknown | CRISPR | |
| tbx6_unspecified | Unspecified Allele | Unknown | Unknown | not specified | |
| te314a | Allele with one point mutation | Unknown | Premature Stop | ENU |
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| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| CRISPR1-tbx6 | Ban et al., 2019 | |
| CRISPR2-tbx6 | Aman et al., 2021 | |
| MO1-tbx6 | N/A | (9) |
| MO2-tbx6 | N/A | McMillen et al., 2016 |
| TALEN1-tbx6 | Ban et al., 2019 |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| spondylocostal dysostosis 5 | Alliance | Spondylocostal dysostosis 5 | 122600 |
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| Human Disease | Fish | Conditions | Citations |
|---|---|---|---|
| scoliosis | tbx6sa38869/sa38869 | standard conditions | Lleras-Forero et al., 2020 |
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Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Conserved_site | IPR018186 | Transcription factor, T-box, conserved site |
| Domain | IPR046360 | T-box transcription factor, DNA-binding domain |
| Family | IPR001699 | T-box transcription factor |
| Homologous_superfamily | IPR008967 | p53-like transcription factor, DNA-binding domain superfamily |
| Homologous_superfamily | IPR036960 | T-box superfamily |
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Domain Details Per Protein
| Protein | Length | p53-like transcription factor, DNA-binding domain superfamily | T-box superfamily | T-box transcription factor | T-box transcription factor, DNA-binding domain | Transcription factor, T-box, conserved site |
|---|---|---|---|---|---|---|
|
UniProtKB:Q8JIS6
|
874 |
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Interactions and Pathways
No data available
Plasmids
No data available
| Construct | Regulatory Region | Coding Sequence | Species | Tg Lines | Citations |
|---|---|---|---|---|---|
| TgBAC(tbx6:GAL4FF) |
|
| 1 | Yabe et al., 2016 | |
| Tg(hsp70l:tbx6-6xMYC) |
|
| 1 | (3) | |
| Tg(hsp70l:tbx6-mCherry) |
|
| 1 | (2) | |
| Tg(tbx6:Cre,myl7:GFP) |
|
| 1 | Ahuja et al., 2024 | |
| Tg(tbx6:EGFP) |
|
| 1 | Ban et al., 2019 |
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| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | CH211-136M16 | ZFIN Curated Data | |
| Encodes | EST | eu421 | Thisse et al., 2005 | |
| Encodes | EST | ibd5070 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:194603 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_153666 (1) | 3049 nt | ||
| Genomic | GenBank:AL929495 (2) | 157568 nt | ||
| Polypeptide | UniProtKB:Q8JIS6 (1) | 874 aa |
- Ahuja, S., Adjekukor, C., Li, Q., Kocha, K.M., Rosin, N., Labit, E., Sinha, S., Narang, A., Long, Q., Biernaskie, J., Huang, P., Childs, S.J. (2024) The development of brain pericytes requires expression of the transcription factor nkx3.1 in intermediate precursors. PLoS Biology. 22:e3002590e3002590
- Koparir, A., Lekszas, C., Keseroglu, K., Rose, T., Rappl, L., Rad, A., Maroofian, R., Narendran, N., Hasanzadeh, A., Karimiani, E.G., Boschann, F., Kornak, U., Klopocki, E., Özbudak, E.M., Vona, B., Haaf, T., Liedtke, D. (2024) Zebrafish as a model to investigate a biallelic gain-of-function variant in MSGN1, associated with a novel skeletal dysplasia syndrome. Human genomics. 18:2323
- Miao, D., Ren, J., Jia, Y., Jia, Y., Li, Y., Huang, H., Gao, R. (2024) PAX1 represses canonical Wnt signaling pathway and plays dual roles during endoderm differentiation. Cell communication and signaling : CCS. 22:242242
- Utsumi, H., Yabe, T., Koshida, S., Yamashita, A., Takada, S. (2024) Deficiency of mastl, a mitotic regulator, results in cell detachment from developing tissues of zebrafish embryos. Frontiers in cell and developmental biology. 12:13756551375655
- Liao, T., Xu, X., Wu, J., Xie, Y., Yan, J. (2023) Increased expression levels of DLX5 inhibit the development of the nervous system. International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience. 83(8):728-739
- Yabe, T., Uriu, K., Takada, S. (2023) Ripply suppresses Tbx6 to induce dynamic-to-static conversion in somite segmentation. Nature communications. 14:21152115
- Zhang, W., Scerbo, P., Delagrange, M., Candat, V., Mayr, V., Vriz, S., Distel, M., Ducos, B., Bensimon, D. (2022) Fgf8 dynamics and critical slowing down may account for the temperature independence of somitogenesis. Communications biology. 5:113
- Aman, A.J., Kim, M., Saunders, L.M., Parichy, D.M. (2021) Thyroid hormone regulates abrupt skin morphogenesis during zebrafish postembryonic development. Developmental Biology. 477:205-218
- Yuikawa, T., Ikeda, M., Tsuda, S., Saito, S., Yamasu, K. (2021) Involvement of Oct4-type transcription factor Pou5f3 in posterior spinal cord formation in zebrafish embryos. Development, growth & differentiation. 63(6):306-322
- Gu, J., Wang, H., Zhou, L., Fan, D., Shi, L., Ji, G., Gu, A. (2020) Oxidative stress in bisphenol AF-induced cardiotoxicity in zebrafish and the protective role of N-acetyl N-cysteine. The Science of the total environment. 731:139190
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