TBX6 (T-box transcription factor 6)

2018-07-01  

Identity

HGNC
TBX6
LOCATION
16p11.2
LOCUSID
6911
ALIAS
SCDO5

Other Information

Locus ID:

NCBI: 6911
MIM: 602427
HGNC: 11605
Ensembl: ENSG00000149922

Variants:

dbSNP: 6911
ClinVar: 6911
TCGA: ENSG00000149922
COSMIC: TBX6

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000149922ENST00000279386O95947
ENSG00000149922ENST00000395224O95947
ENSG00000149922ENST00000553607O95947
ENSG00000149922ENST00000567664O95947
ENSG00000149922ENST00000627355A0A0D9SEK4

Expression (GTEx)

0
5
10
15
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
361121372022Functional characteristics of a broad spectrum of TBX6 variants in Mayer-Rokitansky-Küster-Hauser syndrome.3
361616962022TBX6 as a cause of a combined skeletal-kidney dysplasia syndrome.4
361121372022Functional characteristics of a broad spectrum of TBX6 variants in Mayer-Rokitansky-Küster-Hauser syndrome.3
361616962022TBX6 as a cause of a combined skeletal-kidney dysplasia syndrome.4
326728672021Genetic variants of TBX6 and TBXT identified in patients with congenital scoliosis in Southern China.6
326728672021Genetic variants of TBX6 and TBXT identified in patients with congenital scoliosis in Southern China.6
314719942020TBX6 missense variants expand the mutational spectrum in a non-Mendelian inheritance disease.16
318889562020Increased TBX6 gene dosages induce congenital cervical vertebral malformations in humans and mice.15
330581782020An additional piece in the TBX6 gene dosage model: A novel nonsense variant in a fetus with severe spondylocostal dysostosis.2
314719942020TBX6 missense variants expand the mutational spectrum in a non-Mendelian inheritance disease.16
318889562020Increased TBX6 gene dosages induce congenital cervical vertebral malformations in humans and mice.15
330581782020An additional piece in the TBX6 gene dosage model: A novel nonsense variant in a fetus with severe spondylocostal dysostosis.2
303075102019TBX6 compound inheritance leads to congenital vertebral malformations in humans and mice.32
306040702019Noncoding rare variants of TBX6 in congenital anomalies of the kidney and urinary tract.4
306367722019TBX6-associated congenital scoliosis (TACS) as a clinically distinguishable subtype of congenital scoliosis: further evidence supporting the compound inheritance and TBX6 gene dosage model.41

Citation

Dessen P

TBX6 (T-box transcription factor 6)

Atlas Genet Cytogenet Oncol Haematol. 2018-07-01

Online version: http://atlasgeneticsoncology.org/gene/57456