GATA4 (GATA binding protein 4)

2007-02-01  

Identity

HGNC
LOCATION
8p23.1
LOCUSID
ALIAS
ASD2,TACHD,TOF,VSD1
FUSION GENES

Other Information

Locus ID:

NCBI: 2626
MIM: 600576
HGNC: 4173
Ensembl: ENSG00000136574

Variants:

dbSNP: 2626
ClinVar: 2626
TCGA: ENSG00000136574
COSMIC: GATA4

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000136574ENST00000335135P43694
ENSG00000136574ENST00000526716E9PKS4
ENSG00000136574ENST00000526974R4GND5
ENSG00000136574ENST00000528027E9PRI5
ENSG00000136574ENST00000528712B3KUF4
ENSG00000136574ENST00000532059P43694
ENSG00000136574ENST00000532977B6DU75
ENSG00000136574ENST00000622443A0A087WZ09

Expression (GTEx)

0
50
100
150

Pathways

PathwaySourceExternal ID
Tight junctionKEGGko04530
Tight junctionKEGGhsa04530
Thyroid hormone signaling pathwayKEGGhsa04919
cGMP-PKG signaling pathwayKEGGhsa04022
cGMP-PKG signaling pathwayKEGGko04022
Metabolism of proteinsREACTOMER-HSA-392499
Peptide hormone metabolismREACTOMER-HSA-2980736
Incretin synthesis, secretion, and inactivationREACTOMER-HSA-400508
Synthesis, secretion, and inactivation of Glucose-dependent Insulinotropic Polypeptide (GIP)REACTOMER-HSA-400511
HemostasisREACTOMER-HSA-109582
Factors involved in megakaryocyte development and platelet productionREACTOMER-HSA-983231
Gene ExpressionREACTOMER-HSA-74160
Generic Transcription PathwayREACTOMER-HSA-212436
YAP1- and WWTR1 (TAZ)-stimulated gene expressionREACTOMER-HSA-2032785
Muscle contractionREACTOMER-HSA-397014
Cardiac conductionREACTOMER-HSA-5576891
Physiological factorsREACTOMER-HSA-5578768

Protein levels (Protein atlas)

Not detected
Low
Medium
High

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA164712718Drugs used in alcohol dependenceChemicalClinicalAnnotationassociatedPD20585342
PA443309AlcoholismDiseaseClinicalAnnotation, VariantAnnotationambiguousPD20585342, 29415147
PA448073ethanolChemicalVariantAnnotationnot associatedPD29415147
PA451906warfarinChemicalClinicalAnnotationassociatedPD25026456, 29298995

References

Pubmed IDYearTitleCitations
128453332003GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5.319
264048402015The DNA damage response induces inflammation and senescence by inhibiting autophagy of GATA4.171
202019242010Genome-wide association study of alcohol dependence implicates a region on chromosome 11.159
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
146123892003GATA-4 and GATA-5 transcription factor genes and potential downstream antitumor target genes are epigenetically silenced in colorectal and gastric cancer.81
176434472007Spectrum of heart disease associated with murine and human GATA4 mutation.75
176434472007Spectrum of heart disease associated with murine and human GATA4 mutation.75
254161332015Stoichiometry of Gata4, Mef2c, and Tbx5 influences the efficiency and quality of induced cardiac myocyte reprogramming.68
195091522009GATA4 and GATA5 are potential tumor suppressors and biomarkers in colorectal cancer.64
164707212006A novel mutation in the GATA4 gene in patients with Tetralogy of Fallot.59

Citation

Dessen P

GATA4 (GATA binding protein 4)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/43765/gata4-(gata-binding-protein-4)