Property Summary

NCBI Gene PubMed Count 39
Grant Count 39
R01 Count 32
Funding $3,468,319.54
PubMed Score 83.66
PubTator Score 54.59

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (5)

Disease log2 FC p
adrenocortical carcinoma -1.075 0.002
interstitial cystitis -1.700 0.006
aldosterone-producing adenoma -1.223 0.007
ovarian cancer -2.100 0.000
psoriasis -1.700 0.000

Gene RIF (30)

PMID Text
26766164 Evidence supporting a genetic basis includes the autosomal dominance of Bicuspid aortic valve inheritance patterns, and the identification of mutations in GATA binding protein 5 transcription factor.
26617239 Transcriptomic analysis of human microvascular endothelial cells with GATA5 knockdown reveals that GATA5 affects several genes and pathways critical for endothelial function.
25759530 A combination of GATA5 and SFRP2 methylation could be promising as a marker for the detection and diagnosis of colorectal cancers and adenomas.
25543888 This study firstly links GATA5 mutation to DCM, which provides novel insight into the molecular mechanisms of DCM, suggesting a potential molecular target for the prenatal prophylaxis and allele-specific treatment of DCM.
25515806 DSVs in the GATA5 gene promoter may increase the susceptibility to the development of VSD as a risk factor.
25449525 A new potentially pathogenic variant in GATA5 contributes to the development of bicuspid aortic valve syndrome.
25148870 Promoter hypermethylation is an important mechanism of the transcriptional inactivation of GATA5 in invasive ductal breast carcinoma.
24796370 Rare sequence variants, p.Gln3Arg and p.Leu233Pro, in GATA5 are associated with human bicuspid aortic valve.
24766859 GATA5, possibly through upregulation of eNOS, plays a role in the development of aortic dilatation in patients with unicuspid and bicuspid aortic valves.
24638895 study provides genetic evidence on the association of GATA5 loss-of-function mutations with enhanced susceptibility to bicuspid aortic valve (BAV), providing novel insight into the molecular mechanism involved in human BAV
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AA Sequence

MYQSLALAASPRQAAYADSGSFLHAPGAGSPMFVPPARVPSMLSYLSGCEPSPQPPELAARPGWAQTATA      1 - 70
DSSAFGPGSPHPPAAHPPGATAFPFAHSPSGPGSGGSAGGRDGSAYQGALLPREQFAAPLGRPVGTSYSA     71 - 140
TYPAYVSPDVAQSWTAGPFDGSVLHGLPGRRPTFVSDFLEEFPGEGRECVNCGALSTPLWRRDGTGHYLC    141 - 210
NACGLYHKMNGVNRPLVRPQKRLSSSRRAGLCCTNCHTTNTTLWRRNSEGEPVCNACGLYMKLHGVPRPL    211 - 280
AMKKESIQTRKRKPKTIAKARGSSGSTRNASASPSAVASTDSSAATSKAKPSLASPVCPGPSMAPQASGQ    281 - 350
EDDSLAPGHLEFKFEPEDFAFPSTAPSPQAGLRGALRQEAWCALALA                           351 - 397
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Text Mined References (39)

PMID Year Title
26766164 2016 Advances in aortic disease management: a year in review.
26617239 2015 Endothelial Gata5 transcription factor regulates blood pressure.
25759530 2015 Combined detection of plasma GATA5 and SFRP2 methylation is a valid noninvasive biomarker for colorectal cancer and adenomas.
25543888 2015 GATA5 loss-of-function mutation in familial dilated cardiomyopathy.
25515806 2014 Novel and functional DNA sequence variants within the GATA5 gene promoter in ventricular septal defects.
25449525 2014 Bicuspid aortic valve syndrome: a heterogeneous and still unknown condition.
25148870 2014 Promoter hypermethylation may be an important mechanism of the transcriptional inactivation of ARRDC3, GATA5, and ELP3 in invasive ductal breast carcinoma.
24796370 2014 Rare GATA5 sequence variants identified in individuals with bicuspid aortic valve.
24766859 2014 GATA5 and endothelial nitric oxide synthase expression in the ascending aorta is related to aortic size and valve morphology.
24638895 2014 GATA5 loss-of-function mutations associated with congenital bicuspid aortic valve.
More...