Human Gene GATA6 (ENST00000269216.10) from GENCODE V44
Description: Homo sapiens GATA binding protein 6 (GATA6), mRNA. (from RefSeq NM_005257) RefSeq Summary (NM_005257): This gene is a member of a small family of zinc finger transcription factors that play an important role in the regulation of cellular differentiation and organogenesis during vertebrate development. This gene is expressed during early embryogenesis and localizes to endo- and mesodermally derived cells during later embryogenesis and thereby plays an important role in gut, lung, and heart development. Mutations in this gene are associated with several congenital defects. [provided by RefSeq, Mar 2012]. Gencode Transcript: ENST00000269216.10 Gencode Gene: ENSG00000141448.11 Transcript (Including UTRs) Position: hg38 chr18:22,169,589-22,202,528 Size: 32,940 Total Exon Count: 7 Strand: + Coding Region Position: hg38 chr18:22,171,145-22,200,823 Size: 29,679 Coding Exon Count: 6
ID:GATA6_HUMAN DESCRIPTION: RecName: Full=Transcription factor GATA-6; AltName: Full=GATA-binding factor 6; FUNCTION: Transcriptional activator that regulates SEMA3C and PLXNA2. Thought to be important for regulating terminal differentiation and/or proliferation. SUBUNIT: Interacts with LMCD1 (By similarity). SUBCELLULAR LOCATION: Nucleus. TISSUE SPECIFICITY: Expressed in heart, gut and gut-derived tissues. DOMAIN: The GATA-type zinc fingers mediate interaction with LMCD1 (By similarity). DISEASE: Defects in GATA6 are a cause of conotruncal heart malformations (CTHM) [MIM:217095]. A group of congenital heart defects involving the outflow tracts. Examples include truncus arteriosus communis, double-outlet right ventricle and transposition of great arteries. Truncus arteriosus communis is characterized by a single outflow tract instead of a separate aorta and pulmonary artery. In transposition of the great arteries, the aorta arises from the right ventricle and the pulmonary artery from the left ventricle. In double outlet of the right ventricle, both the pulmonary artery and aorta arise from the right ventricle. Note=GATA6 mutations have been found in patients with non-syndromic persistent truncus arteriosus (PubMed:19666519). DISEASE: Defects in GATA6 are the cause of atrial septal defect type 9 (ASD9) [MIM:614475]. A congenital heart malformation characterized by incomplete closure of the wall between the atria resulting in blood flow from the left to the right atria. Some patients manifest tricuspid valve disease, pulmonary valve disease, and pulmonary artery hypertension. DISEASE: Defects in GATA6 are a cause of tetralogy of Fallot (TOF) [MIM:187500]. A congenital heart anomaly which consists of pulmonary stenosis, ventricular septal defect, dextroposition of the aorta (aorta is on the right side instead of the left) and hypertrophy of the right ventricle. In this condition, blood from both ventricles (oxygen-rich and oxygen-poor) is pumped into the body often causing cyanosis. DISEASE: Defects in GATA6 are the cause of atrioventricular septal defect type 5 (AVSD5) [MIM:614474]. A congenital heart malformation characterized by a common atrioventricular junction coexisting with deficient atrioventricular septation. The complete form involves underdevelopment of the lower part of the atrial septum and the upper part of the ventricular septum; the valve itself is also shared. A less severe form, known as ostium primum atrial septal defect, is characterized by separate atrioventricular valvar orifices despite a common junction. DISEASE: Defects in GATA6 are a cause of pancreatic agenesis and congenital heart defects (PACHD) [MIM:600001]. An autosomal dominant disease characterized by pancreatic severe hypoplasia or agenesis, diabetes mellitus, and congenital heart abonormalities including ventricular septal defect, patent ductus arteriosus, pulmonary artery stenosis, truncus arteriosus and tetralogy of Fallot. SIMILARITY: Contains 2 GATA-type zinc fingers.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q92908
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Gene Ontology (GO) Annotations with Structured Vocabulary
Molecular Function: GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding GO:0001085 RNA polymerase II transcription factor binding GO:0001103 RNA polymerase II repressing transcription factor binding GO:0001228 transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding GO:0003677 DNA binding GO:0003682 chromatin binding GO:0003700 transcription factor activity, sequence-specific DNA binding GO:0003705 transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding GO:0005515 protein binding GO:0008134 transcription factor binding GO:0008270 zinc ion binding GO:0019901 protein kinase binding GO:0043565 sequence-specific DNA binding GO:0044212 transcription regulatory region DNA binding GO:0046872 metal ion binding
Biological Process: GO:0000122 negative regulation of transcription from RNA polymerase II promoter GO:0001701 in utero embryonic development GO:0001889 liver development GO:0003148 outflow tract septum morphogenesis GO:0003309 type B pancreatic cell differentiation GO:0003310 pancreatic A cell differentiation GO:0006351 transcription, DNA-templated GO:0006355 regulation of transcription, DNA-templated GO:0006366 transcription from RNA polymerase II promoter GO:0006644 phospholipid metabolic process GO:0007493 endodermal cell fate determination GO:0007596 blood coagulation GO:0008584 male gonad development GO:0010468 regulation of gene expression GO:0014898 cardiac muscle hypertrophy in response to stress GO:0030513 positive regulation of BMP signaling pathway GO:0030855 epithelial cell differentiation GO:0031016 pancreas development GO:0032911 negative regulation of transforming growth factor beta1 production GO:0032912 negative regulation of transforming growth factor beta2 production GO:0035239 tube morphogenesis GO:0035987 endodermal cell differentiation GO:0042493 response to drug GO:0043066 negative regulation of apoptotic process GO:0043627 response to estrogen GO:0044267 cellular protein metabolic process GO:0045766 positive regulation of angiogenesis GO:0045892 negative regulation of transcription, DNA-templated GO:0045893 positive regulation of transcription, DNA-templated GO:0045944 positive regulation of transcription from RNA polymerase II promoter GO:0048645 animal organ formation GO:0048738 cardiac muscle tissue development GO:0051145 smooth muscle cell differentiation GO:0051891 positive regulation of cardioblast differentiation GO:0055007 cardiac muscle cell differentiation GO:0060045 positive regulation of cardiac muscle cell proliferation GO:0060430 lung saccule development GO:0060486 Clara cell differentiation GO:0060510 Type II pneumocyte differentiation GO:0060575 intestinal epithelial cell differentiation GO:0060947 cardiac vascular smooth muscle cell differentiation GO:0070848 response to growth factor GO:0071158 positive regulation of cell cycle arrest GO:0071371 cellular response to gonadotropin stimulus GO:0071456 cellular response to hypoxia GO:0071773 cellular response to BMP stimulus
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