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

Gene info

Synonyms

None

Previous symbol

None

External ID

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

Disease info

Disease

CHD Phenotype

  • Atrial septal defect
  • Ventricular septal defect

Extra Cardiac Phenotype

None

Incomplete penetrance

Unknown

Variable expressivity

Unknown

Animal model

Mouse study

MGI: Heterozygous and homozygous knockout mice have CHD

MGI ID

1306784

Variant info

Clinvar

CITED2

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

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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. https://doi.org/10.1002/humu.20262 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. https://doi.org/10.1371/journal.pone.0098157 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). https://doi.org/10.1186/1423-0127-21-7 DOI:10.1186/1423-0127-21-7 PMID:24456003