Identity
HGNC
LOCATION
Xq21.1
LOCUSID
ALIAS
DSMAX,MK,MNK,SMAX3
FUSION GENES
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: 538
MIM: 300011
HGNC: 869
Ensembl: ENSG00000165240
Variants:
dbSNP: 538
ClinVar: 538
TCGA: ENSG00000165240
COSMIC: ATP7A
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
PharmGKB
| Entity ID | Name | Type | Evidence | Association | PK | PD | PMIDs |
|---|---|---|---|---|---|---|---|
| PA164713176 | Platinum compounds | Chemical | Pathway | associated | 19525887 | ||
| PA445425 | Prostatic Neoplasms | Disease | ClinicalAnnotation | associated | PD | 20038957 | |
| PA449383 | docetaxel | Chemical | ClinicalAnnotation | associated | PD | 20038957 | |
| PA451644 | thalidomide | Chemical | ClinicalAnnotation | associated | PD | 20038957 |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38032054 | 2024 | Regulation of the apico-basolateral trafficking polarity of the homologous copper-ATPases ATP7A and ATP7B. | 0 |
| 38141875 | 2024 | Deep intronic variant causes aberrant splicing of ATP7A in a family with a variable occipital horn syndrome phenotype. | 1 |
| 38032054 | 2024 | Regulation of the apico-basolateral trafficking polarity of the homologous copper-ATPases ATP7A and ATP7B. | 0 |
| 38141875 | 2024 | Deep intronic variant causes aberrant splicing of ATP7A in a family with a variable occipital horn syndrome phenotype. | 1 |
| 36692329 | 2023 | ATP7A-related copper transport disorders: A systematic review and definition of the clinical subtypes. | 2 |
| 37212000 | 2023 | [Clinical and genetic analysis of three children with Menkes disease due to variants of ATP7A gene]. | 0 |
| 37885090 | 2023 | Cuproptosis-related molecular patterns and gene (ATP7A) in hepatocellular carcinoma and their relationships with tumor immune microenvironment and clinical features. | 3 |
| 36692329 | 2023 | ATP7A-related copper transport disorders: A systematic review and definition of the clinical subtypes. | 2 |
| 37212000 | 2023 | [Clinical and genetic analysis of three children with Menkes disease due to variants of ATP7A gene]. | 0 |
| 37885090 | 2023 | Cuproptosis-related molecular patterns and gene (ATP7A) in hepatocellular carcinoma and their relationships with tumor immune microenvironment and clinical features. | 3 |
| 35907138 | 2022 | Circular RNA circPBX3 promotes cisplatin resistance of ovarian cancer cells via interacting with IGF2BP2 to stabilize ATP7A mRNA expression. | 0 |
| 35907138 | 2022 | Circular RNA circPBX3 promotes cisplatin resistance of ovarian cancer cells via interacting with IGF2BP2 to stabilize ATP7A mRNA expression. | 0 |
| 33359139 | 2021 | The M1311V variant of ATP7A is associated with impaired trafficking and copper homeostasis in models of motor neuron disease. | 5 |
| 33565059 | 2021 | [Pedigree study and analysis of ATP7A gene variants in three children with Menkes disease]. | 0 |
| 34461106 | 2021 | At sixes and sevens: cryptic domain in the metal binding chain of the human copper transporter ATP7A. | 1 |
Citation
Dessen P
ATP7A (ATPase copper transporting alpha)
Atlas Genet Cytogenet Oncol Haematol. 2007-09-01
Online version: http://atlasgeneticsoncology.org/gene/49743/atp7a
