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: 845
MIM: 114251
HGNC: 1513
Ensembl: ENSG00000118729
Variants:
dbSNP: 845
ClinVar: 845
TCGA: ENSG00000118729
COSMIC: CASQ2
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000118729 | ENST00000261448 | O14958 |
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 34743414 | 2022 | Calsequestrin 2 overexpression in breast cancer increases tumorigenesis and metastasis by modulating the tumor microenvironment. | 3 |
| 34743414 | 2022 | Calsequestrin 2 overexpression in breast cancer increases tumorigenesis and metastasis by modulating the tumor microenvironment. | 3 |
| 32291483 | 2021 | Association of T66A polymorphism in CASQ2 with PR interval in a Chinese population. | 1 |
| 32291483 | 2021 | Association of T66A polymorphism in CASQ2 with PR interval in a Chinese population. | 1 |
| 31934898 | 2020 | Catecholaminergic Polymorphic Ventricular Tachycardia. | 13 |
| 32693635 | 2020 | An International Multicenter Evaluation of Inheritance Patterns, Arrhythmic Risks, and Underlying Mechanisms of CASQ2-Catecholaminergic Polymorphic Ventricular Tachycardia. | 28 |
| 32902830 | 2020 | Molecular adaptation to calsequestrin 2 (CASQ2) point mutations leading to catecholaminergic polymorphic ventricular tachycardia (CPVT): comparative analysis of R33Q and D307H mutants. | 5 |
| 33046906 | 2020 | The structure of a calsequestrin filament reveals mechanisms of familial arrhythmia. | 9 |
| 31934898 | 2020 | Catecholaminergic Polymorphic Ventricular Tachycardia. | 13 |
| 32693635 | 2020 | An International Multicenter Evaluation of Inheritance Patterns, Arrhythmic Risks, and Underlying Mechanisms of CASQ2-Catecholaminergic Polymorphic Ventricular Tachycardia. | 28 |
| 32902830 | 2020 | Molecular adaptation to calsequestrin 2 (CASQ2) point mutations leading to catecholaminergic polymorphic ventricular tachycardia (CPVT): comparative analysis of R33Q and D307H mutants. | 5 |
| 33046906 | 2020 | The structure of a calsequestrin filament reveals mechanisms of familial arrhythmia. | 9 |
| 31482657 | 2019 | CASQ2 variants in Chinese children with catecholaminergic polymorphic ventricular tachycardia. | 7 |
| 31482657 | 2019 | CASQ2 variants in Chinese children with catecholaminergic polymorphic ventricular tachycardia. | 7 |
| 27157848 | 2016 | A novel heterozygous mutation in cardiac calsequestrin causes autosomal dominant catecholaminergic polymorphic ventricular tachycardia. | 27 |
Citation
Dessen P
CASQ2 (calsequestrin 2)
Atlas Genet Cytogenet Oncol Haematol. 2015-02-01
Online version: http://atlasgeneticsoncology.org/gene/54979/casq2-(calsequestrin-2)
