ATP7B Gene: Copper-Transporting ATPase 2
Genetic insights into Wilson disease and copper metabolism disorders
Gene Information Card
| Symbol | ATP7B |
|---|---|
| Full Name | ATPase copper transporting beta |
| Gene Type | Protein coding |
| Chromosomal Location | 13q14.3 |
| NCBI Gene ID | 540 ncbi.nlm.nih.gov/gene/540 |
| Ensembl ID | ENSG00000123191 |
| UniProt ID | P35670 |
| OMIM ID | 606882 |
| HGNC ID | 870 |
| Aliases | PWD, WC1, WND |
Description
The ATP7B gene encodes a copper-transporting P-type ATPase that plays a critical role in copper homeostasis. It is primarily expressed in the liver and is responsible for incorporating copper into ceruloplasmin and facilitating biliary copper excretion. Mutations in ATP7B lead to Wilson disease, an autosomal recessive disorder characterized by copper accumulation in the liver, brain, and other organs.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Wilson Disease | Loss-of-function mutations impair copper transport, leading to copper accumulation and toxicity. | ClinVar, OMIM |
| Hepatolenticular Degeneration | Same as Wilson disease; neurological and hepatic symptoms due to copper deposition. | OMIM |
| Copper Toxicosis | Impaired biliary excretion causes hepatic copper overload. | UniProt |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 22.3 | High |
| Kidney | 8.1 | Medium |
| Brain | 4.5 | Low |
| Heart | 2.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 18.5 | Liver cancer cell line, high expression |
| HEK293 | 3.2 | Embryonic kidney, moderate |
| SH-SY5Y | 1.1 | Neuroblastoma, low |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| p.His1069Gln | Missense | Common in European populations | Reduced protein stability and function |
| p.Arg778Leu | Missense | Common in Asian populations | Impaired copper transport |
| c.3402delC | Frameshift | Rare | Premature truncation, loss of function |
Mutation functional classification
Loss of Function (LOF)
Most ATP7B mutations are loss-of-function, reducing copper transport activity.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Not typically dominant-negative; disease is recessive.
View complete mutation data：
Gene Ontology (GO)
| • copper ion transmembrane transporter activity | • ATPase activity |
| • coupled to transmembrane movement of ions | • integral component of plasma membrane |
| • copper ion binding | • response to copper ion |
Pathways
• Copper homeostasis
• Metal ion transport
Protein Summary
ATP7B is a 1465-amino acid transmembrane protein localized to the trans-Golgi network in hepatocytes. It transports copper into the secretory pathway for incorporation into ceruloplasmin and also relocalizes to the canalicular membrane to excrete excess copper into bile. Defects in this protein disrupt copper balance, leading to Wilson disease.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ATP7B Knockout HEK293 Cell Line | EDJ-KQ12482 | Human | 540 | Details Get a Quote |
| ATP7B Knockout A-549 Cell Line | EDJ-KQ41438 | Human | 540 | Details Get a Quote |
| ATP7B Knockout HCT 116 Cell Line | EDJ-KQ41439 | Human | 540 | Details Get a Quote |
| ATP7B Knockout HeLa Cell Line | EDJ-KQ41440 | Human | 540 | Details Get a Quote |
| ATP7B Knockout Hep-G2 Cell Line | EDJ-KZ105 | Human | 540 | Details Get a Quote |
| Atp7b Knockout HT22 Cell Line | EDJ-KZ106 | Mouse | 11979 | Details Get a Quote |
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