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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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PRKACB
protein kinase cAMP-activated catalytic subunit beta
Chromosome 1 Β· 1p31.1
NCBI Gene: 5567Ensembl: ENSG00000142875.21HGNC: HGNC:9381UniProt: A0A087WVC4
147PubMed Papers
21Diseases
1Drugs
6Pathogenic Variants
FUNCTIONAL ROLE
Hub GeneKinase
CLINICAL
Early PipelineOMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
ATP bindingmagnesium ion bindingpotassium channel inhibitor activitynegative regulation of TORC1 signalingcardioacrofacial dysplasia 2Ellis Van Creveld syndromeEllis-van Creveld syndromegenetic disorder
✦AI Summary

PRKACB encodes the catalytic subunit beta of cAMP-dependent protein kinase (PKA), a key mediator of G-protein coupled receptor signaling. It transduces cAMP-dependent signals to regulate diverse cellular processes including cell proliferation, differentiation, microtubule dynamics, and ion flux 12. PRKACB phosphorylates multiple substrates including RPTOR to suppress mTORC1 signaling 3 and GPKOW to modulate RNA binding 4. The protein contains redox-sensitive cysteine residues (Cys200, Cys344) that enable PKA to function as an oxidative stress sensor, initiating RNF25-dependent E-cadherin degradation in hepatocellular carcinoma metastasis 5. PRKACB is predominantly expressed in brain tissue with neuroprotective functions against neurodegeneration 67. Clinically, PRKACB alterations are associated with multiple malignancies: fusion genes involving PRKACB occur in extrahepatic cholangiocarcinoma and perihilar cholangiocarcinoma 89, and drive intraductal oncocytic papillary neoplasm morphology 10. Pathogenic PRKACB variants also contribute to Carney complex (characterized by myxomas and endocrine tumors) and adrenal Cushing syndrome 1112.

Sources cited
1
PRKACB phosphorylates multiple substrates including RPTOR to suppress mTORC1 signaling and GPKOW to modulate RNA binding .
PMID: 31112131
2
PRKACB phosphorylates multiple substrates including RPTOR to suppress mTORC1 signaling and GPKOW to modulate RNA binding .
PMID: 21880142
3
The protein contains redox-sensitive cysteine residues (Cys200, Cys344) that enable PKA to function as an oxidative stress sensor, initiating RNF25-dependent E-cadherin degradation in hepatocellular carcinoma metastasis .
PMID: 38286671
4
Clinically, PRKACB alterations are associated with multiple malignancies: fusion genes involving PRKACB occur in extrahepatic cholangiocarcinoma and perihilar cholangiocarcinoma ,, and drive intraductal oncocytic papillary neoplasm morphology .
PMID: 37871652
⚠Limited data available β€” This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜21
cardioacrofacial dysplasia 2Open Targets
0.75Strong
Ellis Van Creveld syndromeOpen Targets
0.37Weak
Ellis-van Creveld syndromeOpen Targets
0.37Weak
genetic disorderOpen Targets
0.19Weak
non-small cell lung carcinomaOpen Targets
0.08Suggestive
isolated asymptomatic elevation of creatine phosphokinaseOpen Targets
0.06Suggestive
acute myeloid leukemiaOpen Targets
0.05Suggestive
cancerOpen Targets
0.05Suggestive
papillary thyroid carcinomaOpen Targets
0.05Suggestive
gastric cancerOpen Targets
0.05Suggestive
colorectal carcinomaOpen Targets
0.05Suggestive
pentosuriaOpen Targets
0.04Suggestive
neoplasmOpen Targets
0.04Suggestive
thrombophiliaOpen Targets
0.03Suggestive
esophageal squamous cell carcinomaOpen Targets
0.03Suggestive
colorectal cancerOpen Targets
0.03Suggestive
melanomaOpen Targets
0.03Suggestive
schizophreniaOpen Targets
0.03Suggestive
osteoarthritisOpen Targets
0.02Suggestive
HirsutismOpen Targets
0.02Suggestive
Cardioacrofacial dysplasia 2UniProt
Pathogenic Variants6
NM_182948.4(PRKACB):c.997A>G (p.Lys333Glu)Likely pathogenic
Cardioacrofacial dysplasia 2
β˜…β˜†β˜†β˜†2024β†’ Residue 333
NM_182948.4(PRKACB):c.404A>T (p.His135Leu)Pathogenic
Cardioacrofacial dysplasia 2
β˜…β˜†β˜†β˜†2022β†’ Residue 135
NM_182948.4(PRKACB):c.844G>C (p.Gly282Arg)Pathogenic
Cardioacrofacial dysplasia 2
β˜†β˜†β˜†β˜†2020β†’ Residue 282
NM_182948.4(PRKACB):c.302C>T (p.Ser101Leu)Pathogenic
Cardioacrofacial dysplasia 2
β˜†β˜†β˜†β˜†2020β†’ Residue 101
NM_182948.4(PRKACB):c.404A>G (p.His135Arg)Pathogenic
Cardioacrofacial dysplasia 2
β˜†β˜†β˜†β˜†2020β†’ Residue 135
NM_182948.4(PRKACB):c.403C>A (p.His135Asn)Pathogenic
Cardioacrofacial dysplasia 2
β˜†β˜†β˜†β˜†2020β†’ Residue 135
View on ClinVar β†—
Drug Targets1
GSK-690693Phase I
Protein kinase C (PKC) inhibitor
Related Genes
AKAP9Protein interaction100%CALM3Protein interaction100%SUFUProtein interaction100%TRPV1Protein interaction100%PKIAProtein interaction100%RAB32Protein interaction100%
Tissue Expression6 tissues
Brain
100%
Heart
32%
Bone Marrow
26%
Liver
8%
Ovary
8%
Lung
5%
Gene Interaction Network
Click a node to explore
PRKACBAKAP9CALM3SUFUTRPV1PKIARAB32
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt P22694
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.51Moderately Constrained
pLIβ“˜
0.97Intolerant
Observed/Expected LoF0.32 [0.20–0.51]
RankingsWhere PRKACB stands among ~20K protein-coding genes
  • #3,094of 20,598
    Most Researched147 Β· top quartile
  • #3,330of 5,498
    Most Pathogenic Variants6
  • #3,133of 17,882
    Most Constrained (LOEUF)0.51 Β· top quartile
Genes detectedPRKACB
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Genomic spectra of biliary tract cancer.
PMID: 26258846
Nat Genet Β· 2015
1.00
2
Gene Rearrangement and Expression of PRKACA and PRKACB Govern Morphobiology of Pancreatobiliary Oncocytic Neoplasms.
PMID: 37871652
Mod Pathol Β· 2024
0.90
3
Targeting cholangiocarcinoma.
PMID: 28844952
Biochim Biophys Acta Mol Basis Dis Β· 2018
0.80
4
Oxidative Stress Promotes Liver Cancer Metastasis via RNF25-Mediated E-Cadherin Protein Degradation.
PMID: 38286671
Adv Sci (Weinh) Β· 2024
0.70
5
Buyang huanwu decoction improves synaptic plasticity of ischemic stroke by regulating the cAMP/PKA/CREB pathway.
PMID: 39089658
J Ethnopharmacol Β· 2024
0.60