GATA6 GATA binding protein 6
Gene info
Synonyms
None
Previous symbol
None
External ID
HGNC: 4174
Entrez Gene: 2627
Ensembl: ENSG00000141448
UCSC: uc002ktt.2
OMIM:
601656
UniProtKB:
Q92908
Disease info
Disease
CHD Phenotype
- Atrial septal defect
- Patent ductus arteriosus
- Atrioventricular septal defect
- Pulmonic stenosis
- Tetralogy of fallot
- Truncus arteriosus
Extra Cardiac Phenotype
None
Incomplete penetrance
Unknown
Variable expressivity
Unknown
Animal model
Mouse study
Mouse with conditional deletion has CHD
MGI ID
Variant info
Clinvar
Selected variant
The Clinvar variants presented in the below IGV track were selected based on the following criteria.
- Variant types are single nucleotide variant or Indel
- Clinical significance for the variant was assessed to be Pathogenic or Likely Pathogenic
- ClinVar review status for the variant is criteria provided
Download annotation file for GATA6: BED file
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Selected References
- Kodo, K., Nishizawa, T., Furutani, M., Arai, S., Yamamura, E., Joo, K., Takahashi, T., Matsuoka, R., & Yamagishi, H. (2009). GATA6 mutations cause human cardiac outflow tract defects by disrupting semaphorin-plexin signaling. Proceedings of the National Academy of Sciences, 106(33), 13933–13938. https://doi.org/10.1073/pnas.0904744106 DOI:10.1073/pnas.0904744106 PMID:19666519
- Li, Y.-J., & Yang, Y.-Q. (2017). An update on the molecular diagnosis of congenital heart disease: focus on loss-of-function mutations. Expert Review of Molecular Diagnostics, 17(4), 393–401. https://doi.org/10.1080/14737159.2017.1300062 DOI:10.1080/14737159.2017.1300062 PMID:28274167
- WANG, X., JI, W., WANG, J., ZHAO, P., GUO, Y., XU, R., CHEN, S., & SUN, K. (2014). Identification of two novel GATA6 mutations in patients with nonsyndromic conotruncal heart defects. Molecular Medicine Reports, 10(2), 743–748. https://doi.org/10.3892/mmr.2014.2247 DOI:10.3892/mmr.2014.2247 PMID:24841381
- Wang, J., Luo, X.-J., Xin, Y.-F., Liu, Y., Liu, Z.-M., Wang, Q., Li, R.-G., Fang, W.-Y., Wang, X.-Z., & Yang, Y.-Q. (2012). Novel GATA6 Mutations Associated with Congenital Ventricular Septal Defect or Tetralogy of Fallot. DNA and Cell Biology, 31(11), 1610–1617. https://doi.org/10.1089/dna.2012.1814 DOI:10.1089/dna.2012.1814 PMID:23020118
- Lin, X., Huo, Z., Liu, X., Zhang, Y., Li, L., Zhao, H., Yan, B., Liu, Y., Yang, Y., & Chen, Y.-H. (2010). A novel GATA6 mutation in patients with tetralogy of Fallot or atrial septal defect. Journal of Human Genetics, 55(10), 662–667. https://doi.org/10.1038/jhg.2010.84 DOI:10.1038/jhg.2010.84 PMID:20631719
- Kodo, K., Nishizawa, T., Furutani, M., Arai, S., Yamamura, E., Joo, K., Takahashi, T., Matsuoka, R., & Yamagishi, H. (2009). GATA6 mutations cause human cardiac outflow tract defects by disrupting semaphorin-plexin signaling. Proceedings of the National Academy of Sciences, 106(33), 13933–13938. https://doi.org/10.1073/pnas.0904744106 DOI:10.1073/pnas.0904744106 PMID:19666519