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: 477
MIM: 182340
HGNC: 800
Ensembl: ENSG00000018625
Variants:
dbSNP: 477
ClinVar: 477
TCGA: ENSG00000018625
COSMIC: ATP1A2
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000018625 | ENST00000361216 | P50993 |
| ENSG00000018625 | ENST00000361216 | A0A0S2Z3W6 |
| ENSG00000018625 | ENST00000392233 | B1AKY9 |
| ENSG00000018625 | ENST00000447527 | H0Y7C1 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
PharmGKB
| Entity ID | Name | Type | Evidence | Association | PK | PD | PMIDs |
|---|---|---|---|---|---|---|---|
| PA447216 | Schizophrenia | Disease | ClinicalAnnotation | associated | PD | ||
| PA450688 | olanzapine | Chemical | ClinicalAnnotation | associated | PD |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37142513 | 2023 | The clinical spectrum associated with ATP1A2 variants in Chinese pediatric patients. | 0 |
| 37142513 | 2023 | The clinical spectrum associated with ATP1A2 variants in Chinese pediatric patients. | 0 |
| 35257835 | 2022 | Hemiplegic migraine type 2 with new mutation of the ATP1A2 gene in Japanese cases. | 0 |
| 35257835 | 2022 | Hemiplegic migraine type 2 with new mutation of the ATP1A2 gene in Japanese cases. | 0 |
| 33493807 | 2021 | Early onset severe ATP1A2 epileptic encephalopathy: Clinical characteristics and underlying mutations. | 6 |
| 33578253 | 2021 | A novel ATP1A2 variant associated with severe stepwise regression, hemiplegia, epilepsy and movement disorders in two unrelated patients. | 3 |
| 33711927 | 2021 | Familial hemiplegic migraine type 2 due to a novel missense mutation in ATP1A2. | 4 |
| 33880529 | 2021 | ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria. | 21 |
| 34092402 | 2021 | Hemiplegic migraine type 2 caused by a novel variant within the P-type ATPase motif in ATP1A2 concomitant with a CACNA1A variant. | 0 |
| 34384358 | 2021 | Functional correlation of ATP1A2 mutations with phenotypic spectrum: from pure hemiplegic migraine to its variant forms. | 5 |
| 33493807 | 2021 | Early onset severe ATP1A2 epileptic encephalopathy: Clinical characteristics and underlying mutations. | 6 |
| 33578253 | 2021 | A novel ATP1A2 variant associated with severe stepwise regression, hemiplegia, epilepsy and movement disorders in two unrelated patients. | 3 |
| 33711927 | 2021 | Familial hemiplegic migraine type 2 due to a novel missense mutation in ATP1A2. | 4 |
| 33880529 | 2021 | ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria. | 21 |
| 34092402 | 2021 | Hemiplegic migraine type 2 caused by a novel variant within the P-type ATPase motif in ATP1A2 concomitant with a CACNA1A variant. | 0 |
Citation
Dessen P
ATP1A2 (ATPase Na+/K+ transporting subunit alpha 2)
Atlas Genet Cytogenet Oncol Haematol. 2013-12-01
Online version: http://atlasgeneticsoncology.org/gene/53630/gene-explorer/case-report-explorer/
