PITX2 paired like homeodomain 2

Gene info


IGDS, RS, Brx1, Otlx2, ARP1

Previous symbol


External ID

HGNC: 9005
Entrez Gene: 5308
Ensembl: ENSG00000164093
UCSC: uc003iac.4
OMIM: 601542
UniProtKB: Q99697

Disease info

CHD Phenotype

  • Atrial septal defect
  • Ventricular septal defect
  • Tetralogy of fallot
  • Transposition of the great arteries
  • Double outlet right ventricle

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 PITX2: BED file

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Selected References

  1. 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 PMID:24604414
  2. Sun, Y.-M., Wang, J., Qiu, X.-B., Yuan, F., Xu, Y.-J., Li, R.-G., Qu, X.-K., Huang, R.-T., Xue, S., & Yang, Y.-Q. (2016). PITX2 loss-of-function mutation contributes to tetralogy of Fallot. Gene, 577(2), 258–264. https://doi.org/10.1016/j.gene.2015.12.001 DOI:10.1016/j.gene.2015.12.001 PMID:26657035
  3. Zhao, C.-M., Peng, L.-Y., Li, L., Liu, X.-Y., Wang, J., Zhang, X.-L., Yuan, F., Li, R.-G., Qiu, X.-B., & Yang, Y.-Q. (2015). PITX2 Loss-of-Function Mutation Contributes to Congenital Endocardial Cushion Defect and Axenfeld-Rieger Syndrome. PLOS ONE, 10(4), e0124409. https://doi.org/10.1371/journal.pone.0124409 DOI:10.1371/journal.pone.0124409 PMID:25893250
  4. 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
  5. Wang, J., Xin, Y.-F., Xu, W.-J., Liu, Z.-M., Qiu, X.-B., Qu, X.-K., Xu, L., Li, X., & Yang, Y.-Q. (2013). Prevalence and Spectrum of PITX2c Mutations Associated with Congenital Heart Disease. DNA and Cell Biology, 32(12), 708–716. https://doi.org/10.1089/dna.2013.2185 DOI:10.1089/dna.2013.2185 PMID:24083357