Identity
HGNC
LOCATION
22q11.21
LOCUSID
ALIAS
CAFS,CATCH22,CTHM,DGCR,DGS,DORV,TBX1C,TGA,VCF,VCFS
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: 6899
MIM: 602054
HGNC: 11592
Ensembl: ENSG00000184058
Variants:
dbSNP: 6899
ClinVar: 6899
TCGA: ENSG00000184058
COSMIC: TBX1
RNA/Proteins
Expression (GTEx)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38608674 | 2024 | A regulatory variant impacting TBX1 expression contributes to basicranial morphology in Homo sapiens. | 0 |
| 38905172 | 2024 | In-silico identification of deleterious non-synonymous SNPs of TBX1 gene: Functional and structural impact towards 22q11.2DS. | 0 |
| 38608674 | 2024 | A regulatory variant impacting TBX1 expression contributes to basicranial morphology in Homo sapiens. | 0 |
| 38905172 | 2024 | In-silico identification of deleterious non-synonymous SNPs of TBX1 gene: Functional and structural impact towards 22q11.2DS. | 0 |
| 37227215 | 2023 | Brachyury positively regulates extracellular matrix synthesis via directly promoting aggrecan transcription in nucleus pulposus. | 1 |
| 37852970 | 2023 | Conserved enhancers control notochord expression of vertebrate Brachyury. | 3 |
| 38203204 | 2023 | Establishment of the Myeloid TBX-Code Reveals Aberrant Expression of T-Box Gene TBX1 in Chronic Myeloid Leukemia. | 0 |
| 37227215 | 2023 | Brachyury positively regulates extracellular matrix synthesis via directly promoting aggrecan transcription in nucleus pulposus. | 1 |
| 37852970 | 2023 | Conserved enhancers control notochord expression of vertebrate Brachyury. | 3 |
| 38203204 | 2023 | Establishment of the Myeloid TBX-Code Reveals Aberrant Expression of T-Box Gene TBX1 in Chronic Myeloid Leukemia. | 0 |
| 34919666 | 2022 | TBX1 functions as a putative oncogene of breast cancer through promoting cell cycle progression. | 1 |
| 34919666 | 2022 | TBX1 functions as a putative oncogene of breast cancer through promoting cell cycle progression. | 1 |
| 32947497 | 2021 | Genetic Variant of TBX1 Gene Is Functionally Associated With Adolescent Idiopathic Scoliosis in the Chinese Population. | 5 |
| 32949294 | 2021 | Relationship Between Severity of T Cell Lymphopenia and Immune Dysregulation in Patients with DiGeorge Syndrome (22q11.2 Deletions and/or Related TBX1 Mutations): a USIDNET Study. | 8 |
| 33557670 | 2021 | T-box transcription factor TBX1, targeted by microRNA-6727-5p, inhibits cell growth and enhances cisplatin chemosensitivity of cervical cancer cells through AKT and MAPK pathways. | 15 |
Citation
Dessen P
TBX1 (T-box transcription factor 1)
Atlas Genet Cytogenet Oncol Haematol. 2003-05-01
Online version: http://atlasgeneticsoncology.org/gene/42484/tbx1-(t-box-transcription-factor-1)
