CITED2 Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2
Gene info
Synonyms
MRG1
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
Heterozygous and homozygous null mice have 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 CITED2: BED file
Genome browser powered by igv.js
Selected References
- 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
- 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
- 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