Property Summary

NCBI Gene PubMed Count 22
Grant Count 51
R01 Count 28
Funding $7,574,607.33
PubMed Score 64.79
PubTator Score 33.15

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (1)

Disease log2 FC p
psoriasis 3.100 0.000

 GO Component (2)

Gene RIF (16)

PMID Text
26118961 The mutation markedly reduced the synergistic activation of TBX20 with NKX2-5 or GATA4.
25834824 We report three missense mutations (Y309D, T370O, and M395R) within the transcriptional activator domain of human TBX20 that were associated with atrial septal defect
25625280 TBX20 loss-of-function mutation contributes to double outlet right ventricle
25487630 Data showed that the TC genotype of SNP rs3999941 and AC genotype of the new SNP c.657A>C in the TBX20 gene may be risk factors for CHD.
25183037 A novel TBX20 mutation, c.526G>A (p.D176N), was identified and co-segregated in all affected members in this family of three generations with atrial septal defects.
24247152 Tbx20 regulated PPAR-gamma expression and protected the vascular endothelial cells from oxidized low-density lipoprotein -induced injury.
23871353 Tbx20 functions as an important regulator of estrogen-mediated cardiomyocyte protection during oxidative stress.
22465533 Study identified one novel heterozygous sequence variant within the proximal promoter region of TBX20 gene in a ventricular septal defects patient, which inhibited transcriptional activities of TBX20 gene promoter; data provide new information to help understanding of genetic causes and molecular mechanisms of congenital heart disease.
21586270 This novel interaction between TBX20b and MKLN1 may help elucidate new regulatory mechanisms within heart development.
20200978 Observational study of gene-disease association. (HuGE Navigator)
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AA Sequence

MEFTASPKPQLSSRANAFSIAALMSSGGSKEKEATENTIKPLEQFVEKSSCAQPLGELTSLDAHGEFGGG      1 - 70
SGSSPSSSSLCTEPLIPTTPIIPSEEMAKIACSLETKELWDKFHELGTEMIITKSGRRMFPTIRVSFSGV     71 - 140
DPEAKYIVLMDIVPVDNKRYRYAYHRSSWLVAGKADPPLPARLYVHPDSPFTGEQLLKQMVSFEKVKLTN    141 - 210
NELDQHGHIILNSMHKYQPRVHIIKKKDHTASLLNLKSEEFRTFIFPETVFTAVTAYQNQLITKLKIDSN    211 - 280
PFAKGFRDSSRLTDIERESVESLIQKHSYARSPIRTYGGEEDVLGDESQTTPNRGSAFTTSDNLSLSSWV    281 - 350
SSSSSFPGFQHPQSLTALGTSTASIATPIPHPIQGSLPPYSRLGMPLTPSAIASSMQGSGPTFPSFHMPR    351 - 420
YHHYFQQGPYAAIQGLRHSSAVMTPFV                                               421 - 447
//

Text Mined References (22)

PMID Year Title
26118961 2016 TBX20 loss-of-function mutation associated with familial dilated cardiomyopathy.
25834824 2015 Novel mutations in the transcriptional activator domain of the human TBX20 in patients with atrial septal defect.
25625280 2015 TBX20 loss-of-function mutation contributes to double outlet right ventricle.
25487630 2015 Association of TBX20 gene polymorphism with congenital heart disease in Han Chinese neonates.
25183037 2014 A novel variant in TBX20 (p.D176N) identified by whole-exome sequencing in combination with a congenital heart disease related gene filter is associated with familial atrial septal defect.
24247152 2013 T-box20 suppresses oxidized low-density lipoprotein-induced human vascular endothelial cell injury by upregulation of PPAR-?.
23871353 2013 Tbx20 functions as an important regulator of estrogen-mediated cardiomyocyte protection during oxidative stress.
22465533 2012 Genetic analysis of the TBX20 gene promoter region in patients with ventricular septal defects.
21586270 2011 Characterization of the novel interaction between muskelin and TBX20, a critical cardiogenic transcription factor.
20200978 2010 Replication of previous genome-wide association studies of bone mineral density in premenopausal American women.
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