Property Summary

NCBI Gene PubMed Count 16
Grant Count 27
R01 Count 22
Funding $3,454,749.61
PubMed Score 57.70
PubTator Score 17.78

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (1)

Disease log2 FC p
ovarian cancer -1.500 0.000

 GO Component (1)

Gene RIF (8)

PMID Text
25813282 Mutations of RBM8A and TBX6 are associated with disorders of the mullerian ducts.
25564734 Compound inheritance of a rare null mutation and a hypomorphic allele of TBX6 accounted for up to 11% of congenital scoliosis cases in the series that we analyzed.
23954021 Data have identified TBX6 as a new gene associated with Mullerian aplasia. The results also support the relevance of LHX1 and CNVs in the development of this congenital malformation.
23335591 we have used exome capture and next-generation sequencing to identify a stoploss mutation in TBX6 that segregates with disease in two generations of one family.
20228709 first report on single nucleotide polymorphisms of TBX6 gene in congenital scoliosis (CS) that suggests genetic variants of TBX6 gene is associated with CS in the Chinese Han population.
20228709 Observational study of gene-disease association. (HuGE Navigator)
18466071 Observational study of gene-disease association. (HuGE Navigator)
17584735 Tbx18 interacts with Gata4 and Nkx2-5 and competes Tbx5-mediated activation of the cardiac Natriuretic peptide precursor type a-promoter. Tbx18 down-regulates Tbx6-activated Delta-like 1 expression in the somitic mesoderm in vivo

AA Sequence

MYHPRELYPSLGAGYRLGPAQPGADSSFPPALAEGYRYPELDTPKLDCFLSGMEAAPRTLAAHPPLPLLP      1 - 70
PAMGTEPAPSAPEALHSLPGVSLSLENRELWKEFSSVGTEMIITKAGRRMFPACRVSVTGLDPEARYLFL     71 - 140
LDVIPVDGARYRWQGRRWEPSGKAEPRLPDRVYIHPDSPATGAHWMRQPVSFHRVKLTNSTLDPHGHLIL    141 - 210
HSMHKYQPRIHLVRAAQLCSQHWGGMASFRFPETTFISVTAYQNPQITQLKIAANPFAKGFRENGRNCKR    211 - 280
ERDARVKRKLRGPEPAATEAYGSGDTPGGPCDSTLGGDIRESDPEQAPAPGEATAAPAPLCGGPSAEAYL    281 - 350
LHPAAFHGAPSHLPTRSPSFPEAPDSGRSAPYSAAFLELPHGSGGSGYPAAPPAVPFAPHFLQGGPFPLP    351 - 420
YTAPGGYLDVGSKPMY                                                          421 - 436
//

Publication (17)

PMID Year Title
25813282 2015 Variations in RBM8A and TBX6 are associated with disorders of the müllerian ducts.
25564734 2015 TBX6 null variants and a common hypomorphic allele in congenital scoliosis.
25416956 2014 A proteome-scale map of the human interactome network.
25231870 2014 Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.
25056061 2014 Biological insights from 108 schizophrenia-associated genetic loci.
24722188 2014 Protein interaction network of alternatively spliced isoforms from brain links genetic risk factors for autism.
23954021 2013 TBX6, LHX1 and copy number variations in the complex genetics of Müllerian aplasia.
23335591 2013 Autosomal dominant spondylocostal dysostosis is caused by mutation in TBX6.
20228709 2010 The association analysis of TBX6 polymorphism with susceptibility to congenital scoliosis in a Chinese Han population.
18466071 2008 A missense T (Brachyury) mutation contributes to vertebral malformations.
More...