GATA5 GATA binding protein 5
Gene info
Synonyms
bB379O24.1, GATAS
Previous symbol
None
External ID
HGNC: 15802
Entrez Gene: 140628
Ensembl: ENSG00000130700
UCSC: uc002ycx.1
OMIM:
611496
UniProtKB:
Q9BWX5
Disease info
Disease
CHD Phenotype
- Atrial septal defect
- Ventricular septal defect
- Bicuspid aortic valve
- Tetralogy of fallot
Extra Cardiac Phenotype
None
Incomplete penetrance
Yes
Variable expressivity
Yes
Animal model
Mouse study
Homozygous null mouse 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 GATA5: BED file
Genome browser powered by igv.js
Selected References
- 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
- 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. https://doi.org/10.3892/ijmm.2014.1689 DOI:10.3892/ijmm.2014.1689
- 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. https://doi.org/10.1007/s00246-012-0482-6 DOI:10.1007/s00246-012-0482-6 PMID:22961344
- 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. https://doi.org/10.3892/ijmm.2014.1700 DOI:10.3892/ijmm.2014.1700