CREBBP CREB binding protein

Gene info



Previous symbol


External ID

HGNC: 2348
Entrez Gene: 1387
Ensembl: ENSG00000005339
UCSC: uc002cvv.4
OMIM: 600140
UniProtKB: Q92793

Disease info

CHD Phenotype

  • Atrial septal defect
  • Ventricular septal defect
  • Bicuspid aortic valve
  • Patent ductus arteriosus
  • Pulmonic stenosis
  • Coarctation of the aorta

Extra Cardiac Phenotype


Incomplete penetrance


Variable expressivity


Animal model

Mouse study

MGI: Heterozygous 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 CREBBP: BED file

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Selected References

  1. Stevens, C. A., & Bhakta, M. G. (1995). Cardiac abnormalities in the Rubinstein-Taybi syndrome. American Journal of Medical Genetics, 59(3), 346–348. DOI:10.1002/ajmg.1320590313 PMID:8599359
  2. Rusconi, D., Negri, G., Colapietro, P., Picinelli, C., Milani, D., Spena, S., Magnani, C., Silengo, M. C., Sorasio, L., Curtisova, V., Cavaliere, M. L., Prontera, P., Stangoni, G., Ferrero, G. B., Biamino, E., Fischetto, R., Piccione, M., Gasparini, P., Salviati, L., … Gervasini, C. (2015). Characterization of 14 novel deletions underlying Rubinstein–Taybi syndrome: an update of the CREBBP deletion repertoire. Human Genetics, 134(6), 613–626. DOI:10.1007/s00439-015-1542-9 PMID:25805166
  3. Bartsch, O. (2002). Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation in codon 1175 of CREBBP. Journal of Medical Genetics, 39(7), 496–501. DOI:10.1136/jmg.39.7.496 PMID:12114483
  4. Bentivegna, A., Milani, D., Gervasini, C., Castronovo, P., Mottadelli, F., Manzini, S., Colapietro, P., Giordano, L., Atzeri, F., Divizia, M. T., Uzielli, M. L. G., Neri, G., Bedeschi, M. F., Faravelli, F., Selicorni, A., & Larizza, L. (2006). Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patients. BMC Medical Genetics, 7(1). DOI:10.1186/1471-2350-7-77 PMID:17052327
  5. Coupry, I. (2002). Molecular analysis of the CBP gene in 60 patients with Rubinstein-Taybi syndrome. Journal of Medical Genetics, 39(6), 415–421. DOI:10.1136/jmg.39.6.415 PMID:12070251
  6. Roelfsema, J. H., White, S. J., Ariyürek, Y., Bartholdi, D., Niedrist, D., Papadia, F., Bacino, C. A., den Dunnen, J. T., van Ommen, G.-J. B., Breuning, M. H., Hennekam, R. C., & Peters, D. J. M. (2005). Genetic Heterogeneity in Rubinstein-Taybi Syndrome: Mutations in Both the CBP and EP300 Genes Cause Disease. The American Journal of Human Genetics, 76(4), 572–580. DOI:10.1086/429130 PMID:15706485