ATP4B Gene - Beta Subunit of Gastric H+/K+ ATPase
Essential component of gastric acid secretion and target for proton pump inhibitors
Gene Information Card
| Symbol | ATP4B |
|---|---|
| Full Name | ATPase H+/K+ transporting subunit beta |
| Gene Type | protein-coding |
| Chromosomal Location | 13q34 |
| NCBI Gene ID | 496 ncbi.nlm.nih.gov/gene/496 |
| Ensembl ID | ENSG00000139618 |
| UniProt ID | P51164 |
| OMIM ID | 137217 |
| HGNC ID | 820 |
| Aliases | ATP6B, H+/K+ ATPase beta subunit, gastric H+/K+ ATPase beta |
Description
ATP4B encodes the beta subunit of the gastric H+/K+ ATPase, a heterodimeric enzyme responsible for gastric acid secretion. The beta subunit is essential for the proper folding, assembly, and membrane targeting of the catalytic alpha subunit (ATP4A). This pump exchanges cytoplasmic H+ for luminal K+ and is the primary target for proton pump inhibitors (PPIs) used to treat acid-related disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Gastric cancer | Altered ATP4B expression may contribute to gastric carcinogenesis through dysregulated acid secretion and chronic inflammation. | NCBI Gene, OMIM |
| Ménétrier disease | Giant hypertrophic gastritis associated with altered gastric acid secretion; ATP4B expression changes observed. | NCBI Gene, OMIM |
| Peptic ulcer disease | Dysregulation of gastric acid secretion due to ATP4B dysfunction can predispose to peptic ulcers. | NCBI Gene, ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Stomach | 45.2 | High |
| Esophagus | 1.5 | Low |
| Duodenum | 0.8 | Low |
| Pancreas | 0.3 | Not detected |
| Liver | 0.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| AGS (gastric adenocarcinoma) | 12.5 | Moderate expression |
| MKN45 (gastric cancer) | 8.3 | Moderate expression |
| KATO III (gastric carcinoma) | 6.7 | Low expression |
| HEK293 (embryonic kidney) | 0.2 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1Val) | Missense | <0.01% | Likely loss of function; affects start codon |
| c.245C>T (p.Pro82Leu) | Missense | <0.01% | Unknown effect; rare variant |
| c.496G>A (p.Gly166Ser) | Missense | <0.01% | Unknown effect; rare variant |
Mutation functional classification
Loss of Function (LOF)
Mutations affecting start codon or critical residues likely impair beta subunit folding or assembly with alpha subunit, reducing H+/K+ ATPase activity.
Gain of Function (GOF)
No gain-of-function mutations reported in ATP4B.
Dominant Negative (DN)
No dominant-negative mutations reported; loss of one allele may be compensated by the other.
View complete mutation data：
Gene Ontology (GO)
Pathways
• REACT: R-HSA-427589 - Gastric acid secretion
• REACT: R-HSA-382551 - Transport of small molecules
• REACT: R-HSA-425986 - Ion transport by P-type ATPases
Protein Summary
The ATP4B protein (UniProt P51164) is a 291-amino acid type II transmembrane glycoprotein with a single transmembrane domain. It functions as the beta subunit of the gastric H+/K+ ATPase, forming a stable heterodimer with the alpha subunit (ATP4A). The beta subunit is required for the correct folding, stabilization, and trafficking of the alpha subunit to the apical membrane of gastric parietal cells. It contains six N-glycosylation sites and a conserved extracellular domain that interacts with the alpha subunit. The protein is essential for gastric acid secretion and is the target of proton pump inhibitors.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ATP4B Knockout HEK293 Cell Line | EDJ-KQ4110 | Human | 496 | Details Get a Quote |
| ATP4B Knockout HeLa Cell Line | EDJ-KQ52688 | Human | 496 | Details Get a Quote |
| ATP4B Knockout A-549 Cell Line | EDJ-KQ61159 | Human | 496 | Details Get a Quote |
| ATP4B Knockout HCT 116 Cell Line | EDJ-KQ69647 | Human | 496 | Details Get a Quote |
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