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FLASH GENE
Symbol GATA6 contributors: mct - updated : 26-11-2013
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
DNA
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
Physical map
LOC388467 18 LOC388467 LOC390835 18 hypothetical gene supported by AF124598; NM_001338 LOC388468 18 hypothetical gene supported by BX649118; NM_174981 OR4K7P 18q21.32 olfactory receptor, family 4, subfamily K, member 7 pseudogene LOC390836 18 similar to Olfactory receptor 4K15 LOC341753 18p11.21 similar to Sorting nexin 19 LOC388469 18 similar to breast cancer antigen NY-BR-1.1 LOC390837 18 similar to ENSANGP00000006371 LOC284269 18p11.21 hypothetical gene supported by AK094382 LOC390838 18 hypothetical gene supported by AL832540 LOC388470 18 similar to breast cancer antigen NY-BR-1 ROCK1 18q11.2 Rho-associated, coiled-coil containing protein kinase 1 LOC388471 18 similar to 60S RIBOSOMAL PROTEIN L21 LOC390839 18 similar to Endonuclease G like 1 (Endo G like) FLJ13687 EFO1 18q11.2 establishment factor-like protein SNRPD1 18q11.1 small nuclear ribonucleoprotein D1 polypeptide 16kDa ABHD3 18q11.1 abhydrolase domain containing 3 MIB 18q11.2 ubiquitin ligase mind bomb LOC201484 18q11.2 hypothetical LOC201484 GATA6 18q11.1-q11.2 GATA binding protein 6 CTAGE-1 18p11.2 CTAGE-1 protein CTAGE-2 18p11.2 CTAGE-2 LOC390840 18 similar to ribosomal protein S4, X-linked LOC390841 18 similar to ubiquitin-conjugating enzyme E2C isoform 2; ubiquitin carrier protein E2-C; ubiquitin-protein ligase C; cyclin-selective ubiquitin carrier protein; mitotic-specific ubiquitin-conjugating enzyme RBBP8 18q11.2 retinoblastoma binding protein 8 LOC91768 MGC11386 18q11.2 hypothetical protein MGC11386 RIOK3 18q11.2 RIO kinase 3 (yeast) C18orf8 18q11.2 chromosome 18 open reading frame 8 NPC1 18q11.1-q11.2 Niemann-Pick disease, type C1 LOC147463 18q11.2 hypothetical protein LOC147463 LOC390842 18 similar to 40S ribosomal protein S10 LAMA3 18q11.2 laminin, alpha 3 FLJ33761 18q11.2 hypothetical protein FLJ33761 CABYR 18q11.1 calcium-binding tyrosine-(Y)-phosphorylation regulated (fibrousheathin 2) OSBPL1A 18q11-q12 oxysterol binding protein-like 1A IMPACT 18q11.2-q12.1 hypothetical protein IMPACT HRH4 18q11.2 histamine receptor H4 LOC390843 18 similar to hypothetical protein BC005868 LOC342741 18q11.2 similar to DEAD (Asp-Glu-Ala-Asp) box polypeptide 48 LOC147468 18q11.2 similar to WW domain binding protein 2 EHZF 18q11.2 early hematopoietic zinc finger
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
7 - 3494 - 595 - 2008 18768929
EXPRESSION
Type widely
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheart   highly
Digestiveintestinelarge intestinerectum highly Homo sapiens
 stomach    
Endocrineadrenal glandcortex  highly
Reproductivefemale systemuteruscervix highly
 male systemtestis    Homo sapiens
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Connectiveadipose  highly
Epithelialabsorptive excretorydigestive epithelium (mucosa)   Homo sapiens
Epithelialbarrier liningneuroepithelium  
cells
SystemCellPubmedSpeciesStageRna symbol
Cardiovascularendothelial cell
Nervousastrocyte
Nervousneuron
Reproductivegranulosa cell
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period fetal, pregnancy
Text developing heart
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • 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)
    • HOMOLOGY
    interspecies homolog to murine Gata6
    Homologene
    FAMILY
  • GATA zinc finger transcription factor family
    • CATEGORY motor/contractile , transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus,nucleoplasm
    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
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA binding to GATA sequence
    RNA
    small molecule
    protein
  • 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
    REGULATION
    repressed by LMCD1
    ASSOCIATED DISORDERS
    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)
    Susceptibility
    Variant & Polymorphism
    Candidate gene candidate lineage-specific oncogene in pancreatobiliary cancer, with implications for novel treatment strategies
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    cancerdigestivepancreas
    RNA interference approach against GATA6 may be an effective therapeutic approach for treatment of pancreatic cancer (PMID: 23832791)
    cancerdigestiveoesophagus
    therapeutic deprivation of GATA6 in GATA6-amplified esophageal adenocarcinomas (EAC) patients may improve patient survival
    ANIMAL & CELL MODELS
  • 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