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50 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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PRKACA
protein kinase cAMP-activated catalytic subunit alpha
Chromosome 19 · 19p13.12
NCBI Gene: 5566Ensembl: ENSG00000072062.16HGNC: HGNC:9380UniProt: A0A8V8TL59
737PubMed Papers
22Diseases
1Drugs
3Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedHub GeneKinase
RESEARCH IMPACT
Highly StudiedTrending
CLINICAL
Early PipelineOMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
positive regulation of phagocytosiscellular response to heatpotassium channel inhibitor activitypositive regulation of cholesterol biosynthetic processcardioacrofacial dysplasia 1pigmented nodular adrenocortical disease, primary, 4Fibrolamellar CarcinomaHepatoblastoma
✦AI Summary

PRKACA encodes the catalytic subunit alpha of protein kinase A (PKA), a cAMP-dependent serine/threonine kinase with diverse cellular functions. Primarily, PRKACA phosphorylates downstream substrates to regulate cAMP signaling across multiple tissues. In cardiac tissue, PRKACA expression is controlled by Nsun2-mediated m5C methylation, which promotes its translation and is essential for cardiac homeostasis and normal hypertrophic response to stress 1. Mechanistically, Nsun2 modifies PRKACA mRNA in a YBX1-dependent manner, with ablation of Nsun2 impairing PKA signaling and accelerating heart failure progression 1. Clinically, PRKACA is highly relevant to neoplastic diseases. DNAJB1-PRKACA fusion genes are the pathognomonic driver of fibrolamellar hepatocellular carcinoma (FLC), where the fusion protein inactivates SIK signaling to activate CRTC2-p300-mediated transcriptional reprogramming 2 3. PRKACA/B fusions also characterize intraductal oncocytic papillary neoplasms (IOPNs) of the pancreas and biliary tract, with fusion prevalence of 100% in typical IOPNs and 46% in atypical cases 4. Gene fusions involving PRKACA occur preferentially in extrahepatic cholangiocarcinoma and represent actionable therapeutic targets in KRAS wild-type pancreatic cancers 5 6. Additionally, somatic PRKACA mutations are detected in 43.8% of cortisol-producing adenomas presenting with overt Cushing syndrome 7.

Sources cited
1
Nsun2 regulates PRKACA mRNA methylation to promote translation and control cardiac hypertrophic response and homeostasis
PMID: 39990213
2
DNAJB1-PRKACA fusion is the characteristic pathogenic driver of fibrolamellar hepatocellular carcinoma
PMID: 39738196
3
DNAJB1-PRKACA fusion inactivates SIK to activate CRTC2-p300 transcriptional reprogramming in FLC
PMID: 39326063
4
PRKACA/B fusion genes are detected in 100% of typical IOPNs and 46% of atypical intraductal papillary neoplasms
PMID: 37871652
5
PRKACA fusions occur in extrahepatic cholangiocarcinoma and represent actionable genetic alterations
PMID: 26258846
6
PRKACA/B fusions are diagnostic hallmarks of IOPNs and represent actionable targets in KRAS wild-type pancreatic cancers
PMID: 38378317
7
Somatic PRKACA mutations occur in 43.8% of cortisol-producing adenomas with overt Cushing syndrome
PMID: 34534321
Disease Associationsⓘ22
cardioacrofacial dysplasia 1Open Targets
0.69Moderate
pigmented nodular adrenocortical disease, primary, 4Open Targets
0.56Moderate
Fibrolamellar CarcinomaOpen Targets
0.38Weak
HepatoblastomaOpen Targets
0.37Weak
Cortisol-Producing Adrenal Cortex AdenomaOpen Targets
0.37Weak
Ellis Van Creveld syndromeOpen Targets
0.37Weak
Ellis-van Creveld syndromeOpen Targets
0.37Weak
hepatocellular adenomaOpen Targets
0.37Weak
ACTH-independent adrenal Cushing syndrome, somaticOpen Targets
0.33Weak
hepatocellular carcinomaOpen Targets
0.29Weak
papillary thyroid carcinomaOpen Targets
0.28Weak
acute myeloid leukemiaOpen Targets
0.28Weak
melanomaOpen Targets
0.28Weak
lung adenocarcinomaOpen Targets
0.28Weak
small cell lung carcinomaOpen Targets
0.28Weak
head and neck squamous cell carcinomaOpen Targets
0.28Weak
chronic lymphocytic leukemiaOpen Targets
0.28Weak
urinary bladder carcinomaOpen Targets
0.28Weak
cutaneous melanomaOpen Targets
0.28Weak
colon adenocarcinomaOpen Targets
0.28Weak
Cardioacrofacial dysplasia 1UniProt
Primary pigmented nodular adrenocortical disease 4UniProt
Pathogenic Variants3
NM_002730.4(PRKACA):c.409G>A (p.Gly137Arg)Pathogenic
Cardioacrofacial dysplasia 1|not provided
★★☆☆2025→ Residue 137
NM_002730.3(PRKACA):c.617T>G (p.Leu206Arg)Pathogenic
Pigmented nodular adrenocortical disease, primary, 4|not provided|ACTH-independent adrenal Cushing syndrome, somatic|Adrenal cortex neoplasm
☆☆☆☆2014→ Residue 206
NM_002730.4(PRKACA):c.597_599dup (p.Leu199_Cys200insTrp)Pathogenic
Pigmented nodular adrenocortical disease, primary, 4
☆☆☆☆2014→ Residue 199
View on ClinVar ↗
Drug Targets1
GSK-690693Phase I
Protein kinase C (PKC) inhibitor
Related Genes
MAP2Protein interaction100%AKAP9Protein interaction100%CALM3Protein interaction100%RELAProtein interaction100%SUFUProtein interaction100%RAB32Protein interaction100%
Tissue Expression6 tissues
Heart
100%
Ovary
38%
Brain
36%
Liver
29%
Lung
23%
Bone Marrow
6%
Gene Interaction Network
Click a node to explore
PRKACAMAP2AKAP9CALM3RELASUFURAB32
PROTEIN STRUCTURE
Preparing viewer…
PDB4WB8 · 1.55 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.34Highly Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.19 [0.12–0.34]
RankingsWhere PRKACA stands among ~20K protein-coding genes
  • #285of 20,598
    Most Researched737 · top 5%
  • #3,889of 5,498
    Most Pathogenic Variants3
  • #1,440of 17,882
    Most Constrained (LOEUF)0.34 · top 10%
Genes detectedPRKACA
Sources retrieved50 papers
Response time—
📄 Sources
50▼
1
Genomic spectra of biliary tract cancer.
PMID: 26258846
Nat Genet · 2015
1.00
2
Gene Rearrangement and Expression of PRKACA and PRKACB Govern Morphobiology of Pancreatobiliary Oncocytic Neoplasms.
PMID: 37871652
Mod Pathol · 2024
0.90
3
The molecular genetics of adrenal cushing.
PMID: 39388056
Hormones (Athens) · 2024
0.86
4
LCAT deficiency promotes hepatocellular carcinoma progression and lenvatinib resistance by promoting triglyceride catabolism and fatty acid oxidation.
PMID: 39842501
Cancer Lett · 2025
0.82
5
Nsun2 controls cardiac homeostasis and hypertrophic response by regulating PRKACA expression.
PMID: 39990213
Theranostics · 2025
0.80