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Symbol GATA6 contributors: mct - updated : 26-11-2014
HGNC name GATA binding protein 6
HGNC id 4174
Corresponding disease
ASD9 atrial septal defect 9
AVSD5 atrioventricular septal defect 5
OFTD cardiac outflow tract defects
PACHD pancreatic agenesis and congenital heart defects
Location 18q11.2      Physical location : 19.749.415 - 19.782.227
Synonym name transcription factor GATA-6
Synonym symbol(s) GAT6
TYPE functioning gene
STRUCTURE 33.01 kb     7 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status provisional
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
7 - 3494 - 595 - 2008 18768929
Type widely
   expressed in (based on citations)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheart   highly
Digestiveintestinelarge intestinerectum highly Homo sapiens
Endocrineadrenal glandcortex  highly
Reproductivefemale systemuteruscervix highly
 male systemtestis    Homo sapiens
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Connectiveadipose  highly
Epithelialabsorptive excretorydigestive epithelium (mucosa)   Homo sapiens
Epithelialbarrier liningneuroepithelium  
SystemCellPubmedSpeciesStageRna symbol
Cardiovascularendothelial cell
Reproductivegranulosa cell
cell lineage
cell lines
physiological period fetal, pregnancy
Text developing heart
  • two adjacent zinc finger of a distinctive form CXNCX(17) CNXC and associated basic domains, two tandem GATA zinc fingers
  • a stretch of residues, 10 histidine, encoded by a CAX trinucleotide repeat
  • two highly conserved zinc-finger DNA binding domains that interact with a canonical DNA motif (G/A)GATA(A/T)
    interspecies homolog to murine Gata6
  • GATA zinc finger transcription factor family
  • CATEGORY motor/contractile , transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    basic FUNCTION
  • involved in regulating terminal differentiation and/or proliferation
  • play critical roles in restricting cell lineage differentiation during development (primary function during cardiovascular development is to regulate morphogenetic patterning of the cardiac outflow tract and aortic arch)
  • in human fetal testis, GATA6 is linked to the expression level of Bax and BCL2
  • endodermal transcription factor having a protective function in lung epithelial cells exposed to P. aeruginosa
  • play an important role in adrenal steroid biosynthesis
  • may play a dominant role in cardiac outflow tract development, although it has been reported to have a redundant role with GATA4 during cardiogenesis
  • essential for differentiation of visceral mesoderm and morphogenetic patterning of cardiac outflow tract and large arteries
  • also plays a role in chondrogenesis and LGR5 is a potential direct target of GATA regulation in this process
  • may regulate expression of the calreticulin gene during cardiac development
  • promotes angiogenic function and survival in endothelial cells by suppression of TGFBR1)
  • key role for the transcription factor GATA6 in human pancreatic development
  • GATA4 and GATA6 are needed for normal ovarian function
  • implicated in the development of multiple organ systems, including the biliary tract, gut, pituitary and thyroid, as well as the pancreas
  • GATA4, GATA45, GATA6 are indispensable for the lineage-specific development and differentiation of cells of endodermal and mesodermal origin
  • promotes cell survival by regulating endoderm expression of BMP2 and basement membrane (BM)during embryonic epithelial morphogenesis
  • in the colorectal epithelium, directs cell proliferation, differentiation and apoptosis
  • CELLULAR PROCESS cell life, differentiation
    cell life, proliferation/growth
    nucleotide, transcription, regulation
    a component
    DNA binding to GATA sequence
    small molecule
  • inducing DAB2 in the visceral endoderm
  • regulating neurovascular guiding molecule semaphorin 3C (SEMA3C) and its receptor plexin A2 (SEMA3C and PLXNA2 are directly regulated by GATA6 through consensus binding sites on their enhancer elements and GATA6 mutations disturbs semaphorin-plexin signaling to varying degrees, resulting in abnormal development of the cardiac outflow tract)
  • interacting with AQP5 (transcriptional activation of AQP5 by GATA6, mediated at least in part through cooperative interactions with Sp1 occurring at the proximal promoter)
  • WNT2 is a direct downstream target of GATA6 during early cardiogenesis
  • target of LGR5 regulation in differentiating embryonal carcinoma cell
  • with MECOM, are new regulators of the calreticulin gene (antagonistic role between both GATA6 and MECOM)
  • transcriptional repressor of TNC gene expression in fibroblasts
  • GATA5 interacts with GATA4 and GATA6 in outflow tract development
  • likely that the JNK activated by anisomycin may stimulate not only the nuclear export of GATA6 through XPO1 but also the degradation of GATA6 by cytoplasmic proteasomes
  • BMI1 interacts with GATA6 in a Ring finger-dependent manner to confer protection against GATA6 ubiquitination and proteasomal degradation
  • AGT promotes apoptosis in intestinal epithelial cells through GATA6 and the Bax pathway in an AT2 receptor-dependent manner
  • HMGA2 directly regulates GATA6 and thereby modulates FZD2 expression
  • cell & other
    repressed by LMCD1
    corresponding disease(s) OFTD , AVSD5 , ASD9 , PACHD
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral   LOH    
    in malignant astrocytoma, high grade
    tumoral   amplification --over  
    amplification and overexpression contribute to the oncogenic phenotypes of pancreatic cancer
    constitutional germinal mutation      
    genetic cause of CHD through disruption of its direct regulation of semaphorin-plexin signaling involving the cardiac neural crest in the pathogenesis of cardiac outflow tract defects
    constitutional germinal mutation     loss of function
    in 56p100 individuals with pancreatic agenesis
    tumoral     --other  
    aberrant expression of GATA6 correlates with poor prognosis and liver metastasis in colorectal cancer
    tumoral     --over  
    in esophageal adenocarcinomas (EAC)
    constitutional     --over  
    hypomethylation is associated with overexpression of PLS3, GATA6, and TWIST1 in the Sezary Syndrome
    Variant & Polymorphism
    Candidate gene candidate lineage-specific oncogene in pancreatobiliary cancer, with implications for novel treatment strategies
    Therapy target
    RNA interference approach against GATA6 may be an effective therapeutic approach for treatment of pancreatic cancer (PMID: 23832791)
    therapeutic deprivation of GATA6 in GATA6-amplified esophageal adenocarcinomas (EAC) patients may improve patient survival
  • regulating HNF, required for differentiation of visceral endoderm in mouse embryo
  • Gata6(+/-)Gata5(+/-) mutant embryos have double outlet right ventricles (DORV) associated with subaortic VSDs
  • simultaneous deletion of both murine Gata4 and Gata6 in the pancreas caused severe pancreatic agenesis due to disruption of pancreatic progenitor cell proliferation, defects in branching morphogenesis