Identity
HGNC
LOCATION
Xq28
LOCUSID
ALIAS
CFAP39,CLA2,OPCA,PMCA3,PMCA3a,SCAX1
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: 492
MIM: 300014
HGNC: 816
Ensembl: ENSG00000067842
Variants:
dbSNP: 492
ClinVar: 492
TCGA: ENSG00000067842
COSMIC: ATP2B3
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36207321 | 2022 | The ataxia-linked E1081Q mutation affects the sub-plasma membrane Ca(2+)-microdomains by tuning PMCA3 activity. | 0 |
| 36207321 | 2022 | The ataxia-linked E1081Q mutation affects the sub-plasma membrane Ca(2+)-microdomains by tuning PMCA3 activity. | 0 |
| 27632770 | 2017 | The ataxia related G1107D mutation of the plasma membrane Ca(2+) ATPase isoform 3 affects its interplay with calmodulin and the autoinhibition process. | 0 |
| 28807751 | 2017 | A novel PMCA3 mutation in an ataxic patient with hypomorphic phosphomannomutase 2 (PMM2) heterozygote mutations: Biochemical characterization of the pump defect. | 8 |
| 27632770 | 2017 | The ataxia related G1107D mutation of the plasma membrane Ca(2+) ATPase isoform 3 affects its interplay with calmodulin and the autoinhibition process. | 0 |
| 28807751 | 2017 | A novel PMCA3 mutation in an ataxic patient with hypomorphic phosphomannomutase 2 (PMM2) heterozygote mutations: Biochemical characterization of the pump defect. | 8 |
| 27035656 | 2016 | Cellular Pathophysiology of an Adrenal Adenoma-Associated Mutant of the Plasma Membrane Ca(2+)-ATPase ATP2B3. | 22 |
| 27035656 | 2016 | Cellular Pathophysiology of an Adrenal Adenoma-Associated Mutant of the Plasma Membrane Ca(2+)-ATPase ATP2B3. | 22 |
| 25953895 | 2015 | A Novel Mutation in Isoform 3 of the Plasma Membrane Ca2+ Pump Impairs Cellular Ca2+ Homeostasis in a Patient with Cerebellar Ataxia and Laminin Subunit 1α Mutations. | 17 |
| 26285814 | 2015 | Novel somatic mutations and distinct molecular signature in aldosterone-producing adenomas. | 32 |
| 26351028 | 2015 | Different Somatic Mutations in Multinodular Adrenals With Aldosterone-Producing Adenoma. | 25 |
| 25953895 | 2015 | A Novel Mutation in Isoform 3 of the Plasma Membrane Ca2+ Pump Impairs Cellular Ca2+ Homeostasis in a Patient with Cerebellar Ataxia and Laminin Subunit 1α Mutations. | 17 |
| 26285814 | 2015 | Novel somatic mutations and distinct molecular signature in aldosterone-producing adenomas. | 32 |
| 26351028 | 2015 | Different Somatic Mutations in Multinodular Adrenals With Aldosterone-Producing Adenoma. | 25 |
| 24082052 | 2014 | Somatic ATP1A1, ATP2B3, and KCNJ5 mutations in aldosterone-producing adenomas. | 62 |
Citation
Dessen P
ATP2B3 (ATPase plasma membrane Ca2+ transporting 3)
Atlas Genet Cytogenet Oncol Haematol. 2014-06-01
Online version: http://atlasgeneticsoncology.org/gene/53954/atp2b3-(atpase-plasma-membrane-ca2+-transporting-3)
