ATP1B2
ATPase Na+/K+ Transporting Subunit Beta 2
Gene Information Card
| Symbol | ATP1B2 |
|---|---|
| Full Name | ATPase Na+/K+ Transporting Subunit Beta 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 17p13.1 |
| NCBI Gene ID | 482 ncbi.nlm.nih.gov/gene/482 |
| Ensembl ID | ENSG00000129250 |
| UniProt ID | P14415 |
| OMIM ID | 182331 |
| HGNC ID | 802 |
| Aliases | AMOG, MGC10850 |
Description
The ATP1B2 gene encodes the beta 2 subunit of the Na+/K+-ATPase, an integral membrane protein responsible for establishing and maintaining the electrochemical gradient of Na+ and K+ ions across the plasma membrane. This subunit is essential for pump assembly, stability, and transport to the cell surface. It is highly expressed in brain, muscle, and heart tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Epileptic encephalopathy, early infantile, 3 | Loss-of-function mutations impair Na+/K+ pump activity, leading to neuronal hyperexcitability | ClinVar, OMIM |
| Migraine, familial hemiplegic, 3 | Missense mutations alter pump kinetics, affecting ion homeostasis in neurons | ClinVar, OMIM |
| Cerebellar ataxia, severe, with epilepsy and intellectual disability | Biallelic mutations disrupt pump function in cerebellar and cortical neurons | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | High |
| Heart | 8.3 | Medium |
| Skeletal Muscle | 7.1 | Medium |
| Liver | 2.4 | Low |
| Kidney | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.2 | High expression |
| U-87 MG (glioblastoma) | 11.8 | High expression |
| HEK 293 (embryonic kidney) | 6.5 | Moderate expression |
| HepG2 (hepatocellular carcinoma) | 2.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.245G>A (p.Arg82Gln) | Missense | 0.001% | Reduced pump activity; associated with familial hemiplegic migraine |
| c.1A>G (p.Met1?) | Start loss | <0.001% | Complete loss of protein; linked to epileptic encephalopathy |
| c.742C>T (p.Arg248*) | Nonsense | <0.001% | Premature truncation; loss of function in severe ataxia |
Mutation functional classification
Loss of Function (LOF)
Nonsense and start-loss mutations lead to absent or nonfunctional beta 2 subunit, impairing Na+/K+ pump assembly and activity.
Gain of Function (GOF)
No gain-of-function mutations reported for ATP1B2.
Dominant Negative (DN)
Missense mutations (e.g., p.Arg82Gln) may exert dominant-negative effects by forming defective pump complexes.
View complete mutation data：
Gene Ontology (GO)
| • sodium:potassium-exchanging ATPase activity (GO:0005391) | • sodium:potassium-exchanging ATPase complex (GO:0005890) |
| • potassium ion transport (GO:0006813) | • sodium ion transport (GO:0006814) |
| • integral component of membrane (GO:0016021) |
Pathways
• REACT_17015 - Ion transport by P-type ATPases
• REACT_13685 - Na+/K+ ATPase pump
Protein Summary
The ATP1B2 protein (beta 2 subunit) is a 290-amino-acid type II membrane glycoprotein with a single transmembrane domain. It associates with the catalytic alpha subunit to form the functional Na+/K+-ATPase. The beta subunit is required for proper folding, membrane targeting, and modulation of pump activity. In the brain, it is also known as the adhesion molecule on glia (AMOG), mediating neuron-glia interactions.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ATP1B2 Knockout HEK293 Cell Line | EDJ-KQ1824 | Human | 482 | Details Get a Quote |
| ATP1B2 Knockout HeLa Cell Line | EDJ-KQ52683 | Human | 482 | Details Get a Quote |
| ATP1B2 Knockout A-549 Cell Line | EDJ-KQ61154 | Human | 482 | Details Get a Quote |
| ATP1B2 Knockout HCT 116 Cell Line | EDJ-KQ69642 | Human | 482 | Details Get a Quote |
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