Gene
tbx5a
- ID
- ZDB-GENE-991124-7
- Name
- T-box transcription factor 5a
- Symbol
- tbx5a Nomenclature History
- Previous Names
-
- tbx5.1
- tbx5
- zf-tbx5
- zTbx5
- etID310031.5 (1)
- heartstrings
- hst
- Type
- protein_coding_gene
- Location
- Chr: 5 Mapping Details/Browsers
- Description
- Enables DNA-binding transcription factor activity; RNA polymerase II-specific DNA-binding transcription factor binding activity; and sequence-specific DNA binding activity. Acts upstream of or within several processes, including cardiac muscle tissue regeneration; heart development; and limb development. Located in actin cytoskeleton and nucleus. Is expressed in several structures, including eye; immature eye; mesoderm; pectoral fin; and pericardial region. Used to study Holt-Oram syndrome. Human ortholog(s) of this gene implicated in Holt-Oram syndrome. Orthologous to human TBX5 (T-box transcription factor 5).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 161 figures from 102 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- eu790 (14 images)
Wild Type Expression Summary
- All Phenotype Data
- 58 figures from 26 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Allele | Type | Localization | Consequence | Mutagen | Supplier |
---|---|---|---|---|---|
hu6499 | Allele with one point mutation | Unknown | Unknown | ENU | |
m21 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
tpl58Gt | Transgenic insertion | Unknown | Unknown | DNA | |
tpl147 | Allele with one deletion | Exon 2 | Unknown | CRISPR | |
tpl148 | Allele with one deletion | Exon 2 | Unknown | CRISPR | |
zf2156 | Allele with one point mutation | Unknown | Premature Stop | not specified | |
zf3255 | Allele with one deletion | Exon 3 | Unknown | CRISPR | |
zf3256Tg | Transgenic insertion | Unknown | Unknown | DNA and CRISPR | |
zf3258Tg | Transgenic insertion | Unknown | Unknown | DNA and CRISPR |
1 - 9 of 9
Show
1 - 10 of 20
Show
Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
Holt-Oram syndrome | Alliance | Holt-Oram syndrome | 142900 |
1 - 1 of 1
1 - 3 of 3
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 |
1 - 5 of 5
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, DNA-binding domain | Transcription factor, T-box, conserved site |
---|---|---|---|---|---|---|---|
UniProtKB:A0A8M9QDI3 | InterPro | 492 | |||||
UniProtKB:Q9IAK8 | InterPro | 492 |
1 - 2 of 2
Interactions and Pathways
No data available
Plasmids
Construct | Regulatory Region | Coding Sequence | Species | Tg Lines | Citations |
---|---|---|---|---|---|
Tg(hsp70l:dntbx5a,cryaa:GFP) |
|
| 1 | (2) | |
TgBAC(tbx5a:EGFP) |
|
| 1 | (4) | |
Tg(tbx5a:Cre-ERT2) |
|
| 1 | (5) | |
Tg(tbx5a:mCherry-2A-Cre-ERT2) |
|
| 1 | (4) | |
Tg(tbx5a:tdTomato) |
|
| 1 | (3) |
1 - 5 of 5
Show
Relationship | Marker Type | Marker | Accession Numbers | Citations |
---|---|---|---|---|
Contained in | BAC | CH211-245E21 | ZFIN Curated Data | |
Encodes | EST | eu790 | Thisse et al., 2005 | |
interacts with | NC Conserved Region (CNE, CNS) | nccr.tbx5a.12sh | Adachi et al., 2016 |
1 - 3 of 3
Show
Type | Accession # | Sequence | Length (nt/aa) | Analysis |
---|---|---|---|---|
RNA | RefSeq:NM_130915 (1) | 2590 nt | ||
Genomic | GenBank:CU181811 (1) | 129789 nt | ||
Polypeptide | UniProtKB:A0A8M9QDI3 (1) | 492 aa |
- Prill, K., Windsor Reid, P., Pilgrim, D. (2025) Heart Morphogenesis Requires Smyd1b for Proper Incorporation of the Second Heart Field in Zebrafish. Genes. 16:
- Ishizaka, M., Maeno, A., Nakazawa, H., Fujii, R., Oikawa, S., Tani, T., Kanno, H., Koita, R., Kawamura, A. (2024) The functional roles of zebrafish HoxA- and HoxD-related clusters in the pectoral fin development. Scientific Reports. 14:2360223602
- Wang, A., Wan, X., Zhu, F., Liu, H., Song, X., Huang, Y., Zhu, L., Ao, Y., Zeng, J., Wang, B., Wu, Y., Xu, Z., Wang, J., Yao, W., Li, H., Zhuang, P., Jiao, J., Zhang, Y. (2024) Habitual Daily Intake of Fried Foods Raises Transgenerational Inheritance Risk of Heart Failure Through NOTCH1-Triggered Apoptosis. Research (Washington, D.C.). 7:04010401
- Auman, H.J., Fernandes, I.H., Berríos-Otero, C.A., Colombo, S., Yelon, D. (2023) Zebrafish smarcc1a mutants reveal requirements for BAF chromatin remodeling complexes in distinguishing the atrioventricular canal from the cardiac chambers. Developmental Dynamics : an official publication of the American Association of Anatomists. 253(1):157-172
- Jones, A.A., Willoner, T., Mishoe Hernandez, L., DeLaurier, A. (2023) Exposure to valproic acid (VPA) reproduces hdac1 loss of function phenotypes in zebrafish. microPublication. Biology. 2023:
- Li, X., Zeng, L., Qu, Z., Zhang, F. (2023) Huoxin pill protects verapamil-induced zebrafish heart failure through inhibition of oxidative stress-triggered inflammation and apoptosis. Heliyon. 10:e23402e23402
- Liu, J., Li, W., Jin, X., Lin, F., Han, J., Zhang, Y. (2023) Optimal tagging strategies for illuminating expression profiles of genes with different abundance in zebrafish. Communications biology. 6:13001300
- Truong, B.T., Shull, L.C., Lencer, E., Bend, E.G., Field, M., Blue, E.E., Bamshad, M.J., Skinner, C., Everman, D., Schwartz, C.E., Flanagan-Steet, H., Artinger, K.B. (2023) PRDM1 DNA-binding zinc finger domain is required for normal limb development and is disrupted in split hand/foot malformation. Disease models & mechanisms. 16(4):
- Blackwell, D.L., Fraser, S.D., Caluseriu, O., Vivori, C., Tyndall, A.V., Lamont, R.E., Parboosingh, J.S., Innes, A.M., Bernier, F.P., Childs, S.J. (2022) Hnrnpul1 controls transcription, splicing, and modulates skeletal and limb development in vivo. G3 (Bethesda). 12(5):
- Fox, S.C., Widen, S.A., Asai-Coakwell, M., Havrylov, S., Benson, M., Prichard, L.B., Baddam, P., Graf, D., Lehmann, O.J., Waskiewicz, A.J. (2022) BMP3 is a novel locus involved in the causality of ocular coloboma. Human genetics. 141(8):1385-1407
1 - 10 of 213
Show