Property Summary

NCBI Gene PubMed Count 39
PubMed Score 83.66
PubTator Score 54.59

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (4)

Expression

  Differential Expression (5)

Disease log2 FC p
adrenocortical carcinoma -1.075 2.0e-03
interstitial cystitis -1.700 6.4e-03
aldosterone-producing adenoma -1.223 6.8e-03
ovarian cancer -2.100 7.1e-16
psoriasis -1.700 4.4e-05

Protein-protein Interaction (2)

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
24573614 Results of this study showed an association of somatic GATA5 mutations with TOF, providing further insight into the underlying molecular mechanism of TOF.
24549248 Epigenetic alterations in GATA family members may be associated with aggressive tumor phenotypes in renal cell cancer
24533449 Reduced GATA5 mRNA levels are associated with a poor clinical outcome, indicating a possible role of GATA5 for the development of aggressive clear cell renal cell carcinoma.
23295592 The findings expand the spectrum of GATA5 mutations linked to atrial fibrillation and provide novel insights into the molecular mechanism involved in the pathogenesis of atrial fibrillation
23289003 In the present study, two novel heterozygous mutations of GATA5, p.R187G and p.H207R, were identified in 2 families with TOF. In each family, the mutant allele was present in all the affected family members
23175127 A novel heterozygous GATA5 loss-of-function mutation of p.W200G identified in a family with lone atrial fibrillation is reported.
23031282 GATA5 mutations were associated with congenital heart disease.
22961344 GATA5 protein mutataion is reposnsible for congenital ventriculoseptal defect.
22641149 Rare non-synonymous variations in the functionally important GATA5 transcriptional activation domains may be important in the pathogenesis of BAV disease in humans.
22625849 USF1 transactivates GATA5 expression by binding to the E-box in its promoter
22483626 the prevalence and spectrum of GATA5 mutations in patients with familial atrial fibrillation
22028801 Two new epigenetic subgroups of gastroesophageal adenocarcinomas were identified that differ to some extent in their survival rates, risk factors of exposure, and GATA5 DNA methylation.
20222162 Epigenetic inactivation of GATA-5 by methylation of CpG islands is an early frequent event during gastric carcinogenesis and is significantly correlated with H. pylori infection.
19509152 Methylation of GATA4/5 is a common and specific event in colorectal carcinomas, and GATA4/5 exhibit tumor suppressive effects in colorectal cancer cells in vitro. GATA4 methylation in fecal DNA may be of interest for colorectal cancer detection.
17912029 While hypermethylation of GATA-5 seems to be a universal feature among human tumors, infrequent methylation of GATA-4, and its corresponding overexpression, appears unique to pancreatic cancer from other tumor types reported thus far.
16823849 Frequent silencing of GATA-4 and GATA-5 in human esophageal neoplasia is associated with gene promoter hypermethylation.
16337738 Methylation of GATA-5 was associated with ovarian carcinogenesis
15585625 Hypermethylation of the GATA5 is associated with lung cancer
14612389 in colorectal cancer and gastric cancer promoter hypermethylation and transcriptional silencing are frequent for GATA-4 and -5
12011060 demonstrate that GATA-5 and HNF-1alpha physically associate both in vivo and in vitro and that this interaction is necessary for cooperative activation of the lactase-phlorizin hydrolase promoter

AA Sequence

MYQSLALAASPRQAAYADSGSFLHAPGAGSPMFVPPARVPSMLSYLSGCEPSPQPPELAARPGWAQTATA      1 - 70
DSSAFGPGSPHPPAAHPPGATAFPFAHSPSGPGSGGSAGGRDGSAYQGALLPREQFAAPLGRPVGTSYSA     71 - 140
TYPAYVSPDVAQSWTAGPFDGSVLHGLPGRRPTFVSDFLEEFPGEGRECVNCGALSTPLWRRDGTGHYLC    141 - 210
NACGLYHKMNGVNRPLVRPQKRLSSSRRAGLCCTNCHTTNTTLWRRNSEGEPVCNACGLYMKLHGVPRPL    211 - 280
AMKKESIQTRKRKPKTIAKARGSSGSTRNASASPSAVASTDSSAATSKAKPSLASPVCPGPSMAPQASGQ    281 - 350
EDDSLAPGHLEFKFEPEDFAFPSTAPSPQAGLRGALRQEAWCALALA                           351 - 397
//

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.
24573614 2014 Somatic GATA5 mutations in sporadic tetralogy of Fallot.
24549248 2014 GATA5 CpG island hypermethylation is an independent predictor for poor clinical outcome in renal cell carcinoma.
24533449 2014 Decreased GATA5 mRNA expression associates with CpG island methylation and shortened recurrence-free survival in clear cell renal cell carcinoma.
23535732 2013 Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array.
23295592 2012 Novel GATA5 loss-of-function mutations underlie familial atrial fibrillation.
23289003 2013 GATA5 loss-of-function mutations underlie tetralogy of fallot.
23175127 2013 A novel GATA5 loss-of-function mutation underlies lone atrial fibrillation.
23031282 2013 Prevalence and spectrum of GATA5 mutations associated with congenital heart disease.
22961344 2013 GATA5 loss-of-function mutation responsible for the congenital ventriculoseptal defect.
22641149 2012 Rare non-synonymous variations in the transcriptional activation domains of GATA5 in bicuspid aortic valve disease.
22625849 2012 Upstream stimulatory factor 1 activates GATA5 expression through an E-box motif.
22483626 2012 Mutational spectrum of the GATA5 gene associated with familial atrial fibrillation.
22028801 2011 Epigenetic subgroups of esophageal and gastric adenocarcinoma with differential GATA5 DNA methylation associated with clinical and lifestyle factors.
20222162 2010 Methylation of GATA-4 and GATA-5 and development of sporadic gastric carcinomas.
19509152 2009 GATA4 and GATA5 are potential tumor suppressors and biomarkers in colorectal cancer.
17912029 2007 Evaluation of GATA-4 and GATA-5 methylation profiles in human pancreatic cancers indicate promoter methylation patterns distinct from other human tumor types.
16823849 2006 Hypermethylation of the GATA gene family in esophageal cancer.
16337738 2006 Involvement of GATA-4/-5 transcription factors in ovarian carcinogenesis.
15585625 2004 Hypermethylation of the GATA genes in lung cancer.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14986113 2004 Transcription factor GATA-5 selectively up-regulates mucin gene expression.
14715527 2004 GATA-4, GATA-5, and GATA-6 activate the rat liver fatty acid binding protein gene in concert with HNF-1alpha.
14612389 2003 GATA-4 and GATA-5 transcription factor genes and potential downstream antitumor target genes are epigenetically silenced in colorectal and gastric cancer.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12011060 2002 Physical interaction between GATA-5 and hepatocyte nuclear factor-1alpha results in synergistic activation of the human lactase-phlorizin hydrolase promoter.
11780052 2001 The DNA sequence and comparative analysis of human chromosome 20.
11408257 2001 Differential activation of intestinal gene promoters: functional interactions between GATA-5 and HNF-1 alpha.
10567378 1999 p300 protein as a coactivator of GATA-5 in the transcription of cardiac-restricted atrial natriuretic factor gene.
9566909 1998 Distinct functions are implicated for the GATA-4, -5, and -6 transcription factors in the regulation of intestine epithelial cell differentiation.