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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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PRKAB2
protein kinase AMP-activated non-catalytic subunit beta 2
Chromosome 1 · 1q21.1
NCBI Gene: 5565Ensembl: ENSG00000131791.9HGNC: HGNC:9379UniProt: O43741
84PubMed Papers
20Diseases
1Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Hub Gene
CLINICAL
FDA Approved Target
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingAMP-activated protein kinase activitycellular response to nutrient levelsnucleotide-activated protein kinase complexcardiovascular diseaseneurodegenerative diseaseneuroinflammatory disorderspondylolisthesis
✦AI Summary

PRKAB2 encodes the beta-2 non-catalytic subunit of AMP-activated protein kinase (AMPK), a key energy sensor that regulates cellular metabolism. As a scaffold protein, PRKAB2 bridges the alpha and gamma subunits to assemble the functional AMPK complex 1. The gene exhibits isoform-specific functions distinct from PRKAB1, with PRKAB2 showing broader transcriptional impact and being essential for mesoderm specification and cardiac differentiation in human pluripotent stem cells 1. PRKAB2 demonstrates clinical relevance across multiple diseases. In pediatric adrenocortical tumors, lower PRKAB2 expression correlates with poor prognosis including relapse, metastasis, and reduced survival rates, serving as an independent prognostic factor 2. Copy number variations in PRKAB2 are associated with congenital heart defects, particularly tetralogy of Fallot 3. The gene shows pharmacogenetic significance in diabetes treatment, with variants affecting metformin response 4. Additionally, PRKAB2 expression is altered in inflammatory conditions, with decreased levels observed in dermatitis patients and differential methylation patterns in hyperuricemia 56. These findings highlight PRKAB2's critical role in metabolic regulation, cardiac development, and disease susceptibility.

Sources cited
1
PRKAB2 acts as scaffold protein bridging AMPK subunits and shows isoform-specific functions in cardiac differentiation
PMID: 33454005
2
Lower PRKAB2 expression associates with poor prognosis in pediatric adrenocortical tumors
PMID: 38539429
3
Copy number variations in PRKAB2 are associated with tetralogy of Fallot
PMID: 31340305
4
PRKAB2 variants affect metformin response in diabetes treatment
PMID: 24558078
5
PRKAB2 expression is decreased in dermatitis patients
PMID: 32347398
6
PRKAB2 shows differential methylation in hyperuricemia
PMID: 34321071
Disease Associationsⓘ20
cardiovascular diseaseOpen Targets
0.37Weak
neurodegenerative diseaseOpen Targets
0.26Weak
neuroinflammatory disorderOpen Targets
0.24Weak
spondylolisthesisOpen Targets
0.08Suggestive
ThrombocytopeniaOpen Targets
0.07Suggestive
hyperinsulinism due to INSR deficiencyOpen Targets
0.07Suggestive
tooth diseaseOpen Targets
0.07Suggestive
ArthropathyOpen Targets
0.06Suggestive
hyperinsulinism due to glucokinase deficiencyOpen Targets
0.06Suggestive
type 2 diabetes mellitusOpen Targets
0.06Suggestive
thrombocytopenia 4Open Targets
0.06Suggestive
autosomal dominant macrothrombocytopeniaOpen Targets
0.06Suggestive
chronic lymphocytic leukemiaOpen Targets
0.06Suggestive
immunodeficiency 88Open Targets
0.06Suggestive
diabetes mellitusOpen Targets
0.06Suggestive
macrothrombocytopenia, isolated, 2, autosomal dominantOpen Targets
0.05Suggestive
LIPE-related familial partial lipodystrophyOpen Targets
0.05Suggestive
eosinophil peroxidase deficiencyOpen Targets
0.05Suggestive
glycogen storage disease IXdOpen Targets
0.05Suggestive
MODYOpen Targets
0.05Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Drug Targets1
ACADESINEApproved
AMP-activated protein kinase, AMPK activator
cardiovascular disease
Related Genes
CAB39Protein interaction100%TSC1Protein interaction100%STK11Protein interaction99%CAB39LProtein interaction99%MTORProtein interaction99%PRKACAProtein interaction98%
Tissue Expression6 tissues
Liver
100%
Heart
90%
Ovary
36%
Brain
36%
Lung
35%
Bone Marrow
29%
Gene Interaction Network
Click a node to explore
PRKAB2CAB39TSC1STK11CAB39LMTORPRKACA
PROTEIN STRUCTURE
Preparing viewer…
PDB2F15 · 2.00 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.86LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.58 [0.39–0.86]
RankingsWhere PRKAB2 stands among ~20K protein-coding genes
  • #5,691of 20,598
    Most Researched84
  • #962of 1,025
    FDA-Approved Drug Targets1
  • #7,567of 17,882
    Most Constrained (LOEUF)0.86
Genes detectedPRKAB2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Human Genetics of Ventricular Septal Defect.
PMID: 38884729
Adv Exp Med Biol · 2024
1.00
2
A genetic-epigenetic interplay at 1q21.1 locus underlies CHD1L-mediated vulnerability to primary progressive multiple sclerosis.
PMID: 39079955
Nat Commun · 2024
0.90
3
Low
PMID: 38539429
Cancers (Basel) · 2024
0.80
4
The pharmacogenetics of type 2 diabetes: a systematic review.
PMID: 24558078
Diabetes Care · 2014
0.70
5
Urate-induced epigenetic modifications in myeloid cells.
PMID: 34321071
Arthritis Res Ther · 2021
0.60