Identity
HGNC
LOCATION
3p25.3
LOCUSID
ALIAS
PMCA2,PMCA2a,PMCA2i
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: 491
MIM: 108733
HGNC: 815
Ensembl: ENSG00000157087
Variants:
dbSNP: 491
ClinVar: 491
TCGA: ENSG00000157087
COSMIC: ATP2B2
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37675773 | 2023 | ATP2B2 de novo variants as a cause of variable neurodevelopmental disorders that feature dystonia, ataxia, intellectual disability, behavioral symptoms, and seizures. | 3 |
| 37675773 | 2023 | ATP2B2 de novo variants as a cause of variable neurodevelopmental disorders that feature dystonia, ataxia, intellectual disability, behavioral symptoms, and seizures. | 3 |
| 30535804 | 2019 | De novo and inherited loss-of-function variants of ATP2B2 are associated with rapidly progressive hearing impairment. | 16 |
| 30535804 | 2019 | De novo and inherited loss-of-function variants of ATP2B2 are associated with rapidly progressive hearing impairment. | 16 |
| 29452611 | 2018 | PMCA2 pump mutations and hereditary deafness. | 9 |
| 29452612 | 2018 | Survival strategies for mouse cerebellar Purkinje neurons lacking PMCA2. | 0 |
| 29655659 | 2018 | A V1143F mutation in the neuronal-enriched isoform 2 of the PMCA pump is linked with ataxia. | 0 |
| 29452611 | 2018 | PMCA2 pump mutations and hereditary deafness. | 9 |
| 29452612 | 2018 | Survival strategies for mouse cerebellar Purkinje neurons lacking PMCA2. | 0 |
| 29655659 | 2018 | A V1143F mutation in the neuronal-enriched isoform 2 of the PMCA pump is linked with ataxia. | 0 |
| 28235801 | 2017 | The scaffolding protein NHERF1 regulates the stability and activity of the tyrosine kinase HER2. | 12 |
| 28527708 | 2017 | Cortical cytoskeleton dynamics regulates plasma membrane calcium ATPase isoform-2 (PMCA2) activity. | 0 |
| 28235801 | 2017 | The scaffolding protein NHERF1 regulates the stability and activity of the tyrosine kinase HER2. | 12 |
| 28527708 | 2017 | Cortical cytoskeleton dynamics regulates plasma membrane calcium ATPase isoform-2 (PMCA2) activity. | 0 |
| 26729871 | 2016 | PMCA2 regulates HER2 protein kinase localization and signaling and promotes HER2-mediated breast cancer. | 33 |
Citation
Dessen P
ATP2B2 (ATPase plasma membrane Ca2+ transporting 2)
Atlas Genet Cytogenet Oncol Haematol. 2007-02-01
Online version: http://atlasgeneticsoncology.org/gene/43952/atp2b2
