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

CHD Phenotype

  • Persistent truncus arteriosus
  • Atrial septal defect
  • Pulmonary stenosis
  • Persistent ductus arteriosus
  • Tetralogy of fallot
  • Atrioventricular septal defect

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.

  1. Variant types are single nucleotide variant or Indel
  2. Clinical significance for the variant was assessed to be Pathogenic or Likely Pathogenic
  3. ClinVar review status for the variant is criteria provided

Download annotation file for GATA6: BED file

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Selected References

  1. Kodo, K., Nishizawa, T., Furutani, M., Arai, S., Yamamura, E., Joo, K., … 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. DOI:10.1073/pnas.0904744106 PMID:19666519
  2. 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. DOI:10.1080/14737159.2017.1300062 PMID:28274167
  3. WANG, X., JI, W., WANG, J., ZHAO, P., GUO, Y., XU, R., … SUN, K. (2014). Identification of two novel GATA6 mutations in patients with nonsyndromic conotruncal heart defects. Molecular Medicine Reports, 10(2), 743–748. DOI:10.3892/mmr.2014.2247 PMID:24841381
  4. Wang, J., Luo, X.-J., Xin, Y.-F., Liu, Y., Liu, Z.-M., Wang, Q., … 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. DOI:10.1089/dna.2012.1814 PMID:23020118
  5. Lin, X., Huo, Z., Liu, X., Zhang, Y., Li, L., Zhao, H., … 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. DOI:10.1038/jhg.2010.84 PMID:20631719
  6. Kodo, K., Nishizawa, T., Furutani, M., Arai, S., Yamamura, E., Joo, K., … 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. DOI:10.1073/pnas.0904744106 PMID:19666519