PRKAB2
Protein Kinase AMP-Activated Non-Catalytic Subunit Beta 2
Gene Information Card
| Symbol | PRKAB2 |
|---|---|
| Full Name | Protein Kinase AMP-Activated Non-Catalytic Subunit Beta 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 1q21.1 |
| NCBI Gene ID | 5565 ncbi.nlm.nih.gov/gene/5565 |
| Ensembl ID | ENSG00000131791 |
| UniProt ID | O43741 |
| OMIM ID | 602741 |
| HGNC ID | 9379 |
| Aliases | AMPK beta 2, HAMPKb, MGC138278 |
Description
PRKAB2 encodes the beta 2 regulatory subunit of AMP-activated protein kinase (AMPK), a heterotrimeric complex critical for cellular energy homeostasis. The beta subunit acts as a scaffold for the alpha catalytic and gamma regulatory subunits, and contains a carbohydrate-binding module that mediates glycogen binding. AMPK is activated by metabolic stress and regulates glucose and lipid metabolism, mitochondrial biogenesis, and autophagy.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cardiovascular disease | Altered AMPK signaling affects cardiac energy metabolism and vascular function | PMID: 25635004 |
| Type 2 diabetes | Impaired AMPK activity contributes to insulin resistance and metabolic dysregulation | PMID: 17003379 |
| Glycogen storage disease | Mutations in AMPK subunits can disrupt glycogen binding and metabolism | PMID: 23321498 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skeletal muscle | 12.5 | Medium |
| Heart | 15.3 | Medium |
| Liver | 8.1 | Low |
| Brain | 6.7 | Low |
| Adipose tissue | 9.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 10.2 | Cervical cancer cell line |
| HepG2 | 11.8 | Hepatocellular carcinoma |
| K562 | 7.5 | Leukemia cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.491C>T (p.Thr164Ile) | Missense | <0.01% | Reduced AMPK activity; associated with metabolic syndrome |
| c.862G>A (p.Gly288Arg) | Missense | <0.01% | Impaired glycogen binding; potential role in glycogen storage disorders |
Mutation functional classification
Loss of Function (LOF)
Mutations that reduce AMPK complex stability or catalytic activity, impairing energy sensing.
Gain of Function (GOF)
Not well documented for PRKAB2; gain-of-function is more commonly associated with PRKAG2.
Dominant Negative (DN)
Some missense variants may interfere with wild-type subunit assembly, reducing overall AMPK function.
View complete mutation data：
Gene Ontology (GO)
Pathways
• AMPK signaling pathway (KEGG: hsa04152)
• Adipocytokine signaling pathway (KEGG: hsa04920)
• Insulin signaling pathway (KEGG: hsa04910)
Protein Summary
The PRKAB2 protein (AMPK beta 2) is a 272-amino acid regulatory subunit that contains a conserved glycogen-binding domain (GBD) at the N-terminus and a C-terminal domain that mediates interaction with the alpha and gamma subunits. It is ubiquitously expressed with highest levels in skeletal muscle and heart. The beta 2 subunit is essential for AMPK complex assembly, subcellular localization, and regulation by glycogen.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PRKAB2 Knockout HEK293 Cell Line | EDJ-KQ1447 | Human | 5565 | Details Get a Quote |
| PRKAB2 Knockout A-549 Cell Line | EDJ-KQ20999 | Human | 5565 | Details Get a Quote |
| PRKAB2 Knockout HCT 116 Cell Line | EDJ-KQ21000 | Human | 5565 | Details Get a Quote |
| PRKAB2 Knockout HeLa Cell Line | EDJ-KQ19667 | Human | 5565 | Details Get a Quote |
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