TBX6 (T-box transcription factor 6)

2018-07-01  

Identity

HGNC
LOCATION
16p11.2
LOCUSID
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

References

Pubmed IDYearTitleCitations
255647342015TBX6 null variants and a common hypomorphic allele in congenital scoliosis.77
175847352007Transcriptional repression by the T-box proteins Tbx18 and Tbx15 depends on Groucho corepressors.35
233355912013Autosomal dominant spondylocostal dysostosis is caused by mutation in TBX6.20
239540212013TBX6, LHX1 and copy number variations in the complex genetics of Müllerian aplasia.19
184660712008A missense T (Brachyury) mutation contributes to vertebral malformations.16
202287092010The association analysis of TBX6 polymorphism with susceptibility to congenital scoliosis in a Chinese Han population.15
202287092010The association analysis of TBX6 polymorphism with susceptibility to congenital scoliosis in a Chinese Han population.15
303075102019TBX6 compound inheritance leads to congenital vertebral malformations in humans and mice.13
306367722019TBX6-associated congenital scoliosis (TACS) as a clinically distinguishable subtype of congenital scoliosis: further evidence supporting the compound inheritance and TBX6 gene dosage model.10
278617642017Autosomal recessive variations of TBX6, from congenital scoliosis to spondylocostal dysostosis.8

Citation

Dessen P

TBX6 (T-box transcription factor 6)

Atlas Genet Cytogenet Oncol Haematol. 2018-07-01

Online version: http://atlasgeneticsoncology.org/gene/57456/tbx6