CITED2 Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2

Gene info



Previous symbol


External ID

HGNC: 1987
Entrez Gene: 10370
Ensembl: ENSG00000164442
UCSC: uc003qip.3
OMIM: 602937
UniProtKB: Q99967

Disease info

CHD Phenotype

  • Atrial septal defect
  • Ventricular septal defect

Extra Cardiac Phenotype


Incomplete penetrance


Variable expressivity


Animal model

Mouse study

MGI: Heterozygous and homozygous knockout mice 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 CITED2: BED file

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Selected References

  1. Sperling, S., Grimm, C. H., Dunkel, I., Mebus, S., Sperling, H.-P., Ebner, A., Galli, R., Lehrach, H., Fusch, C., Berger, F., & Hammer, S. (2005). Identification and functional analysis ofCITED2 mutations in patients with congenital heart defects. Human Mutation, 26(6), 575–582. DOI:10.1002/humu.20262 PMID:16287139
  2. Liu, Y., Wang, F., Wu, Y., Tan, S., Wen, Q., Wang, J., Zhu, X., Wang, X., Li, C., Ma, X., & Pan, H. (2014). Variations of CITED2 Are Associated with Congenital Heart Disease (CHD) in Chinese Population. PLoS ONE, 9(5), e98157. DOI:10.1371/journal.pone.0098157 PMID:24848765
  3. Xu, M., Wu, X., Li, Y., Yang, X., Hu, J., Zheng, M., & Tian, J. (2014). CITED2 Mutation and methylation in children with congenital heart disease. Journal of Biomedical Science, 21(1). DOI:10.1186/1423-0127-21-7 PMID:24456003