Identity
HGNC
LOCATION
17q23.2
LOCUSID
ALIAS
ICPPS,PAPPAS,SPS
FUSION GENES
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: 9496
MIM: 601719
HGNC: 11603
Ensembl: ENSG00000121075
Variants:
dbSNP: 9496
ClinVar: 9496
TCGA: ENSG00000121075
COSMIC: TBX4
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000121075 | ENST00000240335 | P57082 |
| ENSG00000121075 | ENST00000589003 | K7EPY2 |
| ENSG00000121075 | ENST00000642491 | P57082 |
| ENSG00000121075 | ENST00000644296 | P57082 |
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37801629 | 2024 | Long-Term Effect of TBX4 Germline Mutation on Pulmonary Clinico-Histopathologic Phenotype. | 0 |
| 38191808 | 2024 | Computed tomographic findings in TBX4 mutation: a common cause of severe pulmonary artery hypertension in children. | 0 |
| 37801629 | 2024 | Long-Term Effect of TBX4 Germline Mutation on Pulmonary Clinico-Histopathologic Phenotype. | 0 |
| 38191808 | 2024 | Computed tomographic findings in TBX4 mutation: a common cause of severe pulmonary artery hypertension in children. | 0 |
| 35216193 | 2022 | Identification and Functional Evaluation of a Novel TBX4 Mutation Underlies Small Patella Syndrome. | 1 |
| 36360195 | 2022 | What Is the Exact Contribution of PITX1 and TBX4 Genes in Clubfoot Development? An Italian Study. | 2 |
| 35216193 | 2022 | Identification and Functional Evaluation of a Novel TBX4 Mutation Underlies Small Patella Syndrome. | 1 |
| 36360195 | 2022 | What Is the Exact Contribution of PITX1 and TBX4 Genes in Clubfoot Development? An Italian Study. | 2 |
| 33478486 | 2021 | Potential interactions between the TBX4-FGF10 and SHH-FOXF1 signaling during human lung development revealed using ChIP-seq. | 8 |
| 33478486 | 2021 | Potential interactions between the TBX4-FGF10 and SHH-FOXF1 signaling during human lung development revealed using ChIP-seq. | 8 |
| 32079640 | 2020 | Phenotype and outcome of pulmonary arterial hypertension patients carrying a TBX4 mutation. | 18 |
| 32195678 | 2020 | TBX4 variants and pulmonary diseases: getting out of the 'Box'. | 7 |
| 32348326 | 2020 | Clinical heterogeneity of Pulmonary Arterial Hypertension associated with variants in TBX4. | 14 |
| 32518174 | 2020 | Rare and de novo duplications containing SHOX in clubfoot. | 6 |
| 33066286 | 2020 | Genetic Evaluation in a Cohort of 126 Dutch Pulmonary Arterial Hypertension Patients. | 6 |
Citation
Dessen P
TBX4 (T-box transcription factor 4)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/74556/tbx4-(t-box-transcription-factor-4)
