Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 6910
MIM: 601620
HGNC: 11604
Ensembl: ENSG00000089225
Variants:
dbSNP: 6910
ClinVar: 6910
TCGA: ENSG00000089225
COSMIC: TBX5
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000089225 | ENST00000310346 | Q99593 |
| ENSG00000089225 | ENST00000349716 | Q99593 |
| ENSG00000089225 | ENST00000405440 | Q99593 |
| ENSG00000089225 | ENST00000526441 | Q99593 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38336121 | 2024 | TBX5 variants and cardiac phenotype: A systematic review of the literature and a novel variant. | 0 |
| 38525280 | 2024 | TBX5 genetic variants and SCD-CAD susceptibility: insights from Chinese Han cohorts. | 0 |
| 38735135 | 2024 | Overexpression of transcription factor TBX5 inhibits the activation of YAP1-TEAD1 pathway to promote ferroptosis in lung cancer cells. | 0 |
| 38336121 | 2024 | TBX5 variants and cardiac phenotype: A systematic review of the literature and a novel variant. | 0 |
| 38525280 | 2024 | TBX5 genetic variants and SCD-CAD susceptibility: insights from Chinese Han cohorts. | 0 |
| 38735135 | 2024 | Overexpression of transcription factor TBX5 inhibits the activation of YAP1-TEAD1 pathway to promote ferroptosis in lung cancer cells. | 0 |
| 36413177 | 2023 | hsa_circ_0038382 upregulates T-box transcription factor 5 to inhibit keloid formation by interacting with miR-940. | 0 |
| 37393232 | 2023 | CircTBX5 knockdown modulates the miR-558/MyD88 axis to alleviate IL-1β-induced inflammation, apoptosis and extracellular matrix degradation in chondrocytes via inactivating the NF-κB signaling. | 2 |
| 37926287 | 2023 | Prioritizing cardiovascular disease-associated variants altering NKX2-5 and TBX5 binding through an integrative computational approach. | 1 |
| 36413177 | 2023 | hsa_circ_0038382 upregulates T-box transcription factor 5 to inhibit keloid formation by interacting with miR-940. | 0 |
| 37393232 | 2023 | CircTBX5 knockdown modulates the miR-558/MyD88 axis to alleviate IL-1β-induced inflammation, apoptosis and extracellular matrix degradation in chondrocytes via inactivating the NF-κB signaling. | 2 |
| 37926287 | 2023 | Prioritizing cardiovascular disease-associated variants altering NKX2-5 and TBX5 binding through an integrative computational approach. | 1 |
| 34490705 | 2022 | Identification of a novel TBX5 c.755 + 1 G > A variant and related pathogenesis in a family with Holt-Oram syndrome. | 2 |
| 35113653 | 2022 | Patient-Specific TBX5-G125R Variant Induces Profound Transcriptional Deregulation and Atrial Dysfunction. | 10 |
| 35514310 | 2022 | TBX5 variant with the novel phenotype of mixed‑type total anomalous pulmonary venous return in Holt‑Oram Syndrome and variable intrafamilial heart defects. | 3 |
Citation
Dessen P
TBX5 (T-box transcription factor 5)
Atlas Genet Cytogenet Oncol Haematol. 2007-02-01
Online version: http://atlasgeneticsoncology.org/gene/45532/tbx5
