GATA5 GATA binding protein 5

Gene info


bB379O24.1, GATAS

Previous symbol


External ID

HGNC: 15802
Entrez Gene: 140628
Ensembl: ENSG00000130700
UCSC: uc002ycx.1
OMIM: 611496
UniProtKB: Q9BWX5

Disease info

CHD Phenotype

  • Atrial septal defect
  • Ventricular septal defect
  • Bicuspid aortic valve
  • Tetralogy of fallot

Extra Cardiac Phenotype


Incomplete penetrance


Variable expressivity


Animal model

Mouse study

MGI: Homozygous knockout mouse has 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 GATA5: BED file

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Selected References

  1. 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
  2. WEI, D., GONG, X.-H., QIU, G., WANG, J., & YANG, Y.-Q. (2014). Novel PITX2c loss-of-function mutations associated with complex congenital heart disease. International Journal of Molecular Medicine, 33(5), 1201–1208. DOI:10.3892/ijmm.2014.1689 PMID:24604414
  3. Wei, D., Bao, H., Zhou, N., Zheng, G.-F., Liu, X.-Y., & Yang, Y.-Q. (2012). GATA5 Loss-of-Function Mutation Responsible for the Congenital Ventriculoseptal Defect. Pediatric Cardiology, 34(3), 504–511. DOI:10.1007/s00246-012-0482-6 PMID:22961344
  4. SHI, L.-M., TAO, J.-W., QIU, X.-B., WANG, J., YUAN, F., XU, L., LIU, H., LI, R.-G., XU, Y.-J., WANG, Q., ZHENG, H.-Z., LI, X., WANG, X.-Z., ZHANG, M., QU, X.-K., & YANG, Y.-Q. (2014). GATA5 loss-of-function mutations associated with congenital bicuspid aortic valve. International Journal of Molecular Medicine, 33(5), 1219–1226. DOI:10.3892/ijmm.2014.1700 PMID:24638895