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: 57158
MIM: 605267
HGNC: 14202
Ensembl: ENSG00000149596
Variants:
dbSNP: 57158
ClinVar: 57158
TCGA: ENSG00000149596
COSMIC: JPH2
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000149596 | ENST00000342272 | Q9BR39 |
| ENSG00000149596 | ENST00000372980 | Q9BR39 |
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 34861382 | 2023 | One gene, two modes of inheritance, four diseases: A systematic review of the cardiac manifestation of pathogenic variants in JPH2-encoded junctophilin-2. | 4 |
| 34965474 | 2023 | Editorial commentary: Genomic and precision medicine provides deeper insights into the genetic basis of diverse JPH2-mediated phenotypes. | 0 |
| 34861382 | 2023 | One gene, two modes of inheritance, four diseases: A systematic review of the cardiac manifestation of pathogenic variants in JPH2-encoded junctophilin-2. | 4 |
| 34965474 | 2023 | Editorial commentary: Genomic and precision medicine provides deeper insights into the genetic basis of diverse JPH2-mediated phenotypes. | 0 |
| 35089322 | 2022 | Junctophilins 1, 2, and 3 all support voltage-induced Ca2+ release despite considerable divergence. | 7 |
| 35238659 | 2022 | Structures of the junctophilin/voltage-gated calcium channel interface reveal hot spot for cardiomyopathy mutations. | 12 |
| 35089322 | 2022 | Junctophilins 1, 2, and 3 all support voltage-induced Ca2+ release despite considerable divergence. | 7 |
| 35238659 | 2022 | Structures of the junctophilin/voltage-gated calcium channel interface reveal hot spot for cardiomyopathy mutations. | 12 |
| 33092464 | 2021 | Interaction of the Joining Region in Junctophilin-2 With the L-Type Ca(2+) Channel Is Pivotal for Cardiac Dyad Assembly and Intracellular Ca(2+) Dynamics. | 34 |
| 34062390 | 2021 | Sequence determinants of human junctophilin-2 protein nuclear localization and phase separation. | 4 |
| 33092464 | 2021 | Interaction of the Joining Region in Junctophilin-2 With the L-Type Ca(2+) Channel Is Pivotal for Cardiac Dyad Assembly and Intracellular Ca(2+) Dynamics. | 34 |
| 34062390 | 2021 | Sequence determinants of human junctophilin-2 protein nuclear localization and phase separation. | 4 |
| 32592107 | 2020 | Nuclear localization of a novel calpain-2 mediated junctophilin-2 C-terminal cleavage peptide promotes cardiomyocyte remodeling. | 29 |
| 32592107 | 2020 | Nuclear localization of a novel calpain-2 mediated junctophilin-2 C-terminal cleavage peptide promotes cardiomyocyte remodeling. | 29 |
| 31217359 | 2019 | Junctophilin-2 expression rescues atrial dysfunction through polyadic junctional membrane complex biogenesis. | 16 |
Citation
Dessen P
JPH2 (junctophilin 2)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/64725/jph2-(junctophilin-2)
