Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 540
MIM: 606882
HGNC: 870
Ensembl: ENSG00000123191
Variants:
dbSNP: 540
ClinVar: 540
TCGA: ENSG00000123191
COSMIC: ATP7B
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
PharmGKB
| Entity ID | Name | Type | Evidence | Association | PK | PD | PMIDs |
|---|---|---|---|---|---|---|---|
| PA150481189 | taxanes | Chemical | ClinicalAnnotation | associated | PD | 26194361 | |
| PA164713176 | Platinum compounds | Chemical | ClinicalAnnotation, Pathway | associated | PD | 19525887, 24852429 | |
| PA444818 | Lung Neoplasms | Disease | ClinicalAnnotation | associated | PD | 24852429 | |
| PA445204 | Ovarian Neoplasms | Disease | ClinicalAnnotation | associated | PD | 26194361 | |
| PA448803 | carboplatin | Chemical | ClinicalAnnotation | associated | PD | 26194361 | |
| PA449212 | daunorubicin | Chemical | MultilinkAnnotation | associated | 25119182 |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38032054 | 2024 | Regulation of the apico-basolateral trafficking polarity of the homologous copper-ATPases ATP7A and ATP7B. | 0 |
| 38286269 | 2024 | Integrative analysis of the cuproptosis-related gene ATP7B in the prognosis and immune infiltration of IDH1 wild-type glioma. | 0 |
| 38307383 | 2024 | AP-1γ2 is an adaptor protein 1 variant required for endosome-to-Golgi trafficking of the mannose-6-P receptor (CI-MPR) and ATP7B copper transporter. | 0 |
| 38032054 | 2024 | Regulation of the apico-basolateral trafficking polarity of the homologous copper-ATPases ATP7A and ATP7B. | 0 |
| 38286269 | 2024 | Integrative analysis of the cuproptosis-related gene ATP7B in the prognosis and immune infiltration of IDH1 wild-type glioma. | 0 |
| 38307383 | 2024 | AP-1γ2 is an adaptor protein 1 variant required for endosome-to-Golgi trafficking of the mannose-6-P receptor (CI-MPR) and ATP7B copper transporter. | 0 |
| 36096368 | 2023 | ATP7B Genotype and Chronic Liver Disease Treatment Outcomes in Wilson Disease: Worse Survival With Loss-of-Function Variants. | 1 |
| 36112267 | 2023 | Genomic Variations in ATP7B Gene in Indian Patients with Wilson Disease. | 0 |
| 36343861 | 2023 | Pathogenicity of Intronic and Synonymous Variants of ATP7B in Wilson Disease. | 1 |
| 36697289 | 2023 | Wilson's disease: overview. | 5 |
| 37074913 | 2023 | Structures of the human Wilson disease copper transporter ATP7B. | 5 |
| 37157876 | 2023 | Functional characterization of novel or yet uncharacterized ATP7B missense variants detected in patients with clinical Wilson's disease. | 1 |
| 37354629 | 2023 | A Systematic Review and Meta-Analysis of the R778L Mutation in ATP7B With Wilson Disease in China. | 0 |
| 37660282 | 2023 | Wilson disease-causing mutations in the carboxyl terminus of ATP7B regulates its localization and Golgi exit selectively in the unpolarized cells. | 0 |
| 37737146 | 2023 | ATP7B Gene Variant Profile İdentified by NGS in Wilson's Disease. | 0 |
Citation
Dessen P
ATP7B (ATPase copper transporting beta)
Atlas Genet Cytogenet Oncol Haematol. 2007-02-01
Online version: http://atlasgeneticsoncology.org/gene/45871/atp7b
