NKX2-5 NK2 homeobox 5

Gene info


CSX1, NKX2.5, NKX4-1

Previous symbol


External ID

HGNC: 2488
Entrez Gene: 1482
Ensembl: ENSG00000183072
UCSC: uc003mcm.3
OMIM: 600584
UniProtKB: P52952

Disease info

CHD Phenotype

  • Atrial septal defect
  • Ventricular septal defect
  • Atrioventricular septal defect
  • Coarctation of the aorta
  • Interrupted aortic arch
  • Tetralogy of fallot
  • Transposition of the great arteries
  • Double outlet right ventricle
  • Hypoplastic left heart syndrome
  • Heterotaxy
  • Ebstein's anomaly

Extra Cardiac Phenotype


Incomplete penetrance


Variable expressivity


Animal model

Mouse study

MGI: Heterozygous and homozygous knockout mice have CHD, mouse homozygous for a single point mutation 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 NKX2-5: 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. https://doi.org/10.1111/j.1399-0004.2010.01435.x DOI:10.1111/j.1399-0004.2010.01435.x PMID:20497191