PRKACB protein kinase cAMP-activated catalytic subunit beta

Gene info



Previous symbol


External ID

HGNC: 9381
Entrez Gene: 5567
Ensembl: ENSG00000142875
UCSC: uc001djl.4
OMIM: 176892
UniProtKB: P22694

Disease info



CHD Phenotype

  • Atrioventricular septal defect

Extra Cardiac Phenotype

Limb anomalies (including short limbs, brachydactyly, and postaxial polydactyly), Dysmorphic facial features, Developmental delay

Incomplete penetrance


Variable expressivity


Animal model

Mouse study

MGI: No cardiovascular defect recorded in knockout mice


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

No variant passing our criteria was found for PRKACB.

Selected References

  1. Chhin, B., Hatayama, M., Bozon, D., Ogawa, M., Schön, P., Tohmonda, T., Sassolas, F., Aruga, J., Valard, A.-G., Chen, S.-C., & Bouvagnet, P. (2007). Elucidation of penetrance variability of aZIC3mutation in a family with complex heart defects and functional analysis ofZIC3mutations in the first zinc finger domain. Human Mutation, 28(6), 563–570. DOI:10.1002/humu.20480 PMID:17295247
  2. Palencia-Campos, A., Aoto, P. C., Machal, E. M. F., Rivera-Barahona, A., Soto-Bielicka, P., Bertinetti, D., Baker, B., Vu, L., Piceci-Sparascio, F., Torrente, I., Boudin, E., Peeters, S., Van Hul, W., Huber, C., Bonneau, D., Hildebrand, M. S., Coleman, M., Bahlo, M., Bennett, M. F., … Ruiz-Perez, V. L. (2020). Germline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation Syndrome. The American Journal of Human Genetics, 107(5), 977–988. DOI:10.1016/j.ajhg.2020.09.005 PMID:33058759