PRKACB protein kinase cAMP-activated catalytic subunit beta
Gene info
Synonyms
PKACb
Previous symbol
None
External ID
HGNC: 9381
Entrez Gene: 5567
Ensembl: ENSG00000142875
UCSC: uc001djl.4
OMIM:
176892
UniProtKB:
P22694
Disease info
Disease
None
CHD Phenotype
- Atrioventricular septal defect
Extra Cardiac Phenotype
Limb anomalies (including short limbs, brachydactyly, and postaxial polydactyly), Dysmorphic facial features, Developmental delay
Incomplete penetrance
Yes
Variable expressivity
Yes
Animal model
Mouse study
MGI: No cardiovascular defect recorded in knockout mice
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
No variant passing our criteria was found for PRKACB.
Selected References
- 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. https://doi.org/10.1002/humu.20480 DOI:10.1002/humu.20480 PMID:17295247
- 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. https://doi.org/10.1016/j.ajhg.2020.09.005 DOI:10.1016/j.ajhg.2020.09.005 PMID:33058759