TBX1 (T-box transcription factor 1)

2003-05-01  

Identity

HGNC
TBX1
LOCATION
22q11.21
LOCUSID
6899
ALIAS
CAFS,CATCH22,CTHM,DGCR,DGS,DORV,TBX1C,TGA,VCF,VCFS
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 6899
MIM: 602054
HGNC: 11592
Ensembl: ENSG00000184058

Variants:

dbSNP: 6899
ClinVar: 6899
TCGA: ENSG00000184058
COSMIC: TBX1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000184058ENST00000329705O43435
ENSG00000184058ENST00000332710O43435
ENSG00000184058ENST00000332710D9ZGG0
ENSG00000184058ENST00000359500O43435
ENSG00000184058ENST00000359500Q152R5
ENSG00000184058ENST00000649276A0A3B3IS18

Expression (GTEx)

0
5
10
15
20
25
30
35
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

References

Pubmed IDYearTitleCitations
386086742024A regulatory variant impacting TBX1 expression contributes to basicranial morphology in Homo sapiens.0
389051722024In-silico identification of deleterious non-synonymous SNPs of TBX1 gene: Functional and structural impact towards 22q11.2DS.0
386086742024A regulatory variant impacting TBX1 expression contributes to basicranial morphology in Homo sapiens.0
389051722024In-silico identification of deleterious non-synonymous SNPs of TBX1 gene: Functional and structural impact towards 22q11.2DS.0
372272152023Brachyury positively regulates extracellular matrix synthesis via directly promoting aggrecan transcription in nucleus pulposus.1
378529702023Conserved enhancers control notochord expression of vertebrate Brachyury.3
382032042023Establishment of the Myeloid TBX-Code Reveals Aberrant Expression of T-Box Gene TBX1 in Chronic Myeloid Leukemia.0
372272152023Brachyury positively regulates extracellular matrix synthesis via directly promoting aggrecan transcription in nucleus pulposus.1
378529702023Conserved enhancers control notochord expression of vertebrate Brachyury.3
382032042023Establishment of the Myeloid TBX-Code Reveals Aberrant Expression of T-Box Gene TBX1 in Chronic Myeloid Leukemia.0
349196662022TBX1 functions as a putative oncogene of breast cancer through promoting cell cycle progression.1
349196662022TBX1 functions as a putative oncogene of breast cancer through promoting cell cycle progression.1
329474972021Genetic Variant of TBX1 Gene Is Functionally Associated With Adolescent Idiopathic Scoliosis in the Chinese Population.5
329492942021Relationship 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
335576702021T-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