GATA4 GATA binding protein 4

Gene info



Previous symbol


External ID

HGNC: 4173
Entrez Gene: 2626
Ensembl: ENSG00000136574
UCSC: uc003wuc.3
OMIM: 600576
UniProtKB: P43694

Disease info

CHD Phenotype

  • Atrial septal defect
  • Ventricular septal defect
  • Partial anomalous pulmonary venous return
  • Atrioventricular septal defect
  • Pulmonic stenosis
  • Tetralogy of fallot
  • Hypoplastic rv

Extra Cardiac Phenotype


Incomplete penetrance


Variable expressivity


Animal model

Mouse study

MGI: Homozygous knockout mouse has CHD. Mice homozygous or heterozygous for single point mutations have CHD


Variant info


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 GATA4: BED file

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Selected References

  1. Wessels, M., & Willems, P. (2010). Genetic factors in non-syndromic congenital heart malformations. Clinical Genetics, 78(2), 103–123. DOI:10.1111/j.1399-0004.2010.01435.x PMID:20497191
  2. Garg, V., Kathiriya, I. S., Barnes, R., Schluterman, M. K., King, I. N., Butler, C. A., Rothrock, C. R., Eapen, R. S., Hirayama-Yamada, K., Joo, K., Matsuoka, R., Cohen, J. C., & Srivastava, D. (2003). GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5. Nature, 424(6947), 443–447. DOI:10.1038/nature01827 PMID:12845333
  3. Hirayama-Yamada, K., Kamisago, M., Akimoto, K., Aotsuka, H., Nakamura, Y., Tomita, H., Furutani, M., Imamura, S., Takao, A., Nakazawa, M., & Matsuoka, R. (2005). Phenotypes withGATA4 orNKX2.5 mutations in familial atrial septal defect. American Journal of Medical Genetics Part A, 135A(1), 47–52. DOI:10.1002/ajmg.a.30684 PMID:15810002
  4. Sarkozy, A. (2005). Spectrum of atrial septal defects associated with mutations of NKX2.5 and GATA4 transcription factors. Journal of Medical Genetics, 42(2), e16–e16. DOI:10.1136/jmg.2004.026740 PMID:15689439
  5. Tomita-Mitchell, A., Maslen, C. L., Morris, C. D., Garg, V., & Goldmuntz, E. (2007). GATA4 sequence variants in patients with congenital heart disease. Journal of Medical Genetics, 44(12), 779–783. DOI:10.1136/jmg.2007.052183 PMID:18055909