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GATA4 (GATA binding protein 4)

Identity

Alias (NCBI)ASD2
TACHD
TOF
VSD1
HGNC (Hugo) GATA4
HGNC Previous nameGATA-binding protein 4
LocusID (NCBI) 2626
Atlas_Id 43765
Location 8p23.1  [Link to chromosome band 8p23]
Location_base_pair Starts at 11704202 and ends at 11760002 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
AC135352.1 () / GATA4 (8p23.1)AC135352.2 () / GATA4 (8p23.1)FDFT1 (8p23.1) / GATA4 (8p23.1)
GATA4 (8p23.1) / GATA4 (8p23.1)NCOR2 (12q24.31) / GATA4 (8p23.1)AC135352.1 GATA4 8p23.1
AC135352.2 GATA4 8p23.1FDFT1 8p23.1 / GATA4 8p23.1NCOR2 12q24.31 / GATA4 8p23.1

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 



Other Leukemias implicated (Data extracted from papers in the Atlas) [ 1 ]
  del(6p) (loss of JARID2 and DTNBP1) in myeloid malignances


External links

 

Nomenclature
HGNC (Hugo)GATA4   4173
Cards
Entrez_Gene (NCBI)GATA4    GATA binding protein 4
AliasesASD2; TACHD; TOF; VSD1
GeneCards (Weizmann)GATA4
Ensembl hg19 (Hinxton)ENSG00000136574 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000136574 [Gene_View]  ENSG00000136574 [Sequence]  chr8:11704202-11760002 [Contig_View]  GATA4 [Vega]
ICGC DataPortalENSG00000136574
TCGA cBioPortalGATA4
AceView (NCBI)GATA4
Genatlas (Paris)GATA4
SOURCE (Princeton)GATA4
Genetics Home Reference (NIH)GATA4
Genomic and cartography
GoldenPath hg38 (UCSC)GATA4  -     chr8:11704202-11760002 +  8p23.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)GATA4  -     8p23.1   [Description]    (hg19-Feb_2009)
GoldenPathGATA4 - 8p23.1 [CytoView hg19]  GATA4 - 8p23.1 [CytoView hg38]
ImmunoBaseENSG00000136574
Genome Data Viewer NCBIGATA4 [Mapview hg19]  
OMIM187500   600576   607941   614429   614430   615542   
Gene and transcription
Genbank (Entrez)AF180736 AF318320 AI192760 AK097060 AY740706
RefSeq transcript (Entrez)NM_001308093 NM_001308094 NM_001374273 NM_001374274 NM_002052
Consensus coding sequences : CCDS (NCBI)GATA4
Gene ExpressionGATA4 [ NCBI-GEO ]   GATA4 [ EBI - ARRAY_EXPRESS ]   GATA4 [ SEEK ]   GATA4 [ MEM ]
Gene Expression Viewer (FireBrowse)GATA4 [ Firebrowse - Broad ]
GenevisibleExpression of GATA4 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)2626
GTEX Portal (Tissue expression)GATA4
Human Protein AtlasENSG00000136574-GATA4 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP43694   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP43694  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP43694
PhosPhoSitePlusP43694
Domaine pattern : Prosite (Expaxy)GATA_ZN_FINGER_1 (PS00344)    GATA_ZN_FINGER_2 (PS50114)   
Domains : Interpro (EBI)GATA_N    TF_GATA_4/5/6    Transcription_factor_GATA    Znf_GATA    Znf_NHR/GATA   
Domain families : Pfam (Sanger)GATA (PF00320)    GATA-N (PF05349)   
Domain families : Pfam (NCBI)pfam00320    pfam05349   
Domain families : Smart (EMBL)ZnF_GATA (SM00401)  
Conserved Domain (NCBI)GATA4
PDB (RSDB)2M9W   
PDB Europe2M9W   
PDB (PDBSum)2M9W   
PDB (IMB)2M9W   
Structural Biology KnowledgeBase2M9W   
SCOP (Structural Classification of Proteins)2M9W   
CATH (Classification of proteins structures)2M9W   
SuperfamilyP43694
AlphaFold pdb e-kbP43694   
Human Protein Atlas [tissue]ENSG00000136574-GATA4 [tissue]
HPRD08994
Protein Interaction databases
DIP (DOE-UCLA)P43694
IntAct (EBI)P43694
BioGRIDGATA4
STRING (EMBL)GATA4
ZODIACGATA4
Ontologies - Pathways
QuickGOP43694
Ontology : AmiGOchromatin  transcription cis-regulatory region binding  RNA polymerase II transcription regulatory region sequence-specific DNA binding  RNA polymerase II cis-regulatory region sequence-specific DNA binding  RNA polymerase II cis-regulatory region sequence-specific DNA binding  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription activator activity  DNA-binding transcription activator activity, RNA polymerase II-specific  DNA-binding transcription activator activity, RNA polymerase II-specific  heart looping  atrioventricular node development  aortic valve morphogenesis  atrioventricular valve formation  endocardial cushion development  endocardial cushion development  cardiac ventricle morphogenesis  cardiac right ventricle morphogenesis  ventricular septum development  atrial septum primum morphogenesis  atrial septum secundum morphogenesis  DNA binding  DNA binding  DNA-binding transcription factor activity  protein binding  nucleus  nucleus  nucleus  nucleus  nucleoplasm  regulation of transcription, DNA-templated  regulation of transcription by RNA polymerase II  cell-cell signaling  endoderm development  blood coagulation  transcription factor binding  zinc ion binding  male gonad development  male gonad development  response to mechanical stimulus  negative regulation of autophagy  positive regulation of vascular endothelial growth factor production  negative regulation of cardiac muscle cell apoptotic process  nuclear body  protein kinase binding  positive regulation of BMP signaling pathway  response to vitamin A  embryonic heart tube anterior/posterior pattern specification  atrioventricular canal development  wound healing  response to drug  sequence-specific DNA binding  cell fate commitment  positive regulation of angiogenesis  positive regulation of transcription, DNA-templated  positive regulation of transcription, DNA-templated  positive regulation of transcription by RNA polymerase II  positive regulation of transcription by RNA polymerase II  embryonic foregut morphogenesis  NFAT protein binding  positive regulation of cardioblast differentiation  regulation of protein kinase B signaling  transdifferentiation  atrial septum morphogenesis  intestinal epithelial cell differentiation  cardiac muscle tissue regeneration  cell growth involved in cardiac muscle cell development  RNA polymerase II-specific DNA-binding transcription factor binding  positive regulation of ERK1 and ERK2 cascade  co-SMAD binding  cellular response to glucose stimulus  regulation of cardiac muscle cell contraction  RNA polymerase II transcription regulator complex  DNA-binding transcription factor binding  negative regulation of oxidative stress-induced cell death  sequence-specific double-stranded DNA binding  negative regulation of apoptotic signaling pathway  
Ontology : EGO-EBIchromatin  transcription cis-regulatory region binding  RNA polymerase II transcription regulatory region sequence-specific DNA binding  RNA polymerase II cis-regulatory region sequence-specific DNA binding  RNA polymerase II cis-regulatory region sequence-specific DNA binding  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription activator activity  DNA-binding transcription activator activity, RNA polymerase II-specific  DNA-binding transcription activator activity, RNA polymerase II-specific  heart looping  atrioventricular node development  aortic valve morphogenesis  atrioventricular valve formation  endocardial cushion development  endocardial cushion development  cardiac ventricle morphogenesis  cardiac right ventricle morphogenesis  ventricular septum development  atrial septum primum morphogenesis  atrial septum secundum morphogenesis  DNA binding  DNA binding  DNA-binding transcription factor activity  protein binding  nucleus  nucleus  nucleus  nucleus  nucleoplasm  regulation of transcription, DNA-templated  regulation of transcription by RNA polymerase II  cell-cell signaling  endoderm development  blood coagulation  transcription factor binding  zinc ion binding  male gonad development  male gonad development  response to mechanical stimulus  negative regulation of autophagy  positive regulation of vascular endothelial growth factor production  negative regulation of cardiac muscle cell apoptotic process  nuclear body  protein kinase binding  positive regulation of BMP signaling pathway  response to vitamin A  embryonic heart tube anterior/posterior pattern specification  atrioventricular canal development  wound healing  response to drug  sequence-specific DNA binding  cell fate commitment  positive regulation of angiogenesis  positive regulation of transcription, DNA-templated  positive regulation of transcription, DNA-templated  positive regulation of transcription by RNA polymerase II  positive regulation of transcription by RNA polymerase II  embryonic foregut morphogenesis  NFAT protein binding  positive regulation of cardioblast differentiation  regulation of protein kinase B signaling  transdifferentiation  atrial septum morphogenesis  intestinal epithelial cell differentiation  cardiac muscle tissue regeneration  cell growth involved in cardiac muscle cell development  RNA polymerase II-specific DNA-binding transcription factor binding  positive regulation of ERK1 and ERK2 cascade  co-SMAD binding  cellular response to glucose stimulus  regulation of cardiac muscle cell contraction  RNA polymerase II transcription regulator complex  DNA-binding transcription factor binding  negative regulation of oxidative stress-induced cell death  sequence-specific double-stranded DNA binding  negative regulation of apoptotic signaling pathway  
Pathways : BIOCARTAHop Pathway in Cardiac Development [Genes]    NFAT and Hypertrophy of the heart (Transcription in the broken heart) [Genes]    ALK in cardiac myocytes [Genes]   
Pathways : KEGGThyroid hormone signaling pathway   
NDEx NetworkGATA4
Atlas of Cancer Signalling NetworkGATA4
Wikipedia pathwaysGATA4
Orthology - Evolution
OrthoDB2626
GeneTree (enSembl)ENSG00000136574
Phylogenetic Trees/Animal Genes : TreeFamGATA4
Homologs : HomoloGeneGATA4
Homology/Alignments : Family Browser (UCSC)GATA4
Gene fusions - Rearrangements
Fusion : MitelmanFDFT1/GATA4 [8p23.1/8p23.1]  
Fusion : MitelmanNCOR2/GATA4 [12q24.31/8p23.1]  
Fusion : QuiverGATA4
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerGATA4 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)GATA4
dbVarGATA4
ClinVarGATA4
MonarchGATA4
1000_GenomesGATA4 
Exome Variant ServerGATA4
GNOMAD BrowserENSG00000136574
Varsome BrowserGATA4
ACMGGATA4 variants
VarityP43694
Genomic Variants (DGV)GATA4 [DGVbeta]
DECIPHERGATA4 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisGATA4 
Mutations
ICGC Data PortalGATA4 
TCGA Data PortalGATA4 
Broad Tumor PortalGATA4
OASIS PortalGATA4 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICGATA4  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DGATA4
Mutations and Diseases : HGMDGATA4
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaGATA4
DgiDB (Drug Gene Interaction Database)GATA4
DoCM (Curated mutations)GATA4
CIViC (Clinical Interpretations of Variants in Cancer)GATA4
Cancer3DGATA4
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM187500    600576    607941    614429    614430    615542   
Orphanet820    19614    19642    8592    8597    14085    14084    14083    14120    14114   
DisGeNETGATA4
MedgenGATA4
Genetic Testing Registry GATA4
NextProtP43694 [Medical]
GENETestsGATA4
Target ValidationGATA4
Huge Navigator GATA4 [HugePedia]
ClinGenGATA4 (curated)
Clinical trials, drugs, therapy
MyCancerGenomeGATA4
Protein Interactions : CTDGATA4
Pharm GKB GenePA28587
PharosP43694
Clinical trialGATA4
Miscellaneous
canSAR (ICR)GATA4
HarmonizomeGATA4
DataMed IndexGATA4
Probes
Litterature
PubMed279 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXGATA4
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon Oct 4 15:10:26 CEST 2021

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