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- Table of Contents
Facts about Junctophilin-2.
JPH2 is vital for proper intracellular Ca(2+) signaling in cardiac myocytes through its participation in ryanodine receptor-mediated calcium ion release. Contributes to the construction of skeletal muscle triad junctions.
Human | |
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Gene Name: | JPH2 |
Uniprot: | Q9BR39 |
Entrez: | 57158 |
Belongs to: |
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junctophilin family |
JP2; junctophilin 2; junctophilin type 2; junctophilin-2
Mass (kDA):
74.222 kDA
Human | |
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Location: | 20q13.12 |
Sequence: | 20; NC_000020.11 (44106590..44187946, complement) |
Specifically expressed in skeletal muscle and heart.
[Junctophilin-2]: Cell membrane; Peripheral membrane protein. Sarcoplasmic reticulum membrane; Single-pass type IV membrane protein. Endoplasmic reticulum membrane; Single-pass type IV membrane protein. The transmembrane domain is anchored in sarcoplasmic reticulum membrane, while the N-terminal part associates with the plasma membrane. In heart cells, it predominantly associates along Z lines within myocytes. In skeletal muscle, it is specifically localized at the junction of A and I bands.; [Junctophilin-2 N-terminal fragment]: Nucleus. Accumulates in the nucleus of stressed hearts.
PMID: 10891348 by Nishi M., et al. Characterization of human junctophilin subtype genes.
PMID: 20095964 by Woo J.S., et al. S165F mutation of junctophilin 2 affects Ca2+ signalling in skeletal muscle.