| Gene Symbol |
JPH2
|
| Entrez Gene |
57158
|
| Alt Symbol |
CMH17, JP-2, JP2
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
junctophilin 2
|
| Other Description |
junctophilin type 2|junctophilin-2
|
| Swissprots |
Q5JY74 Q9BR39 Q9UJN4 O95913 E1P5X1
|
| Accessions |
EAW75940 EAW75941 EAW75942 EAW75943 Q9BR39 AK098288 AK098303 AK304863 BAG65601 AL132999 CAB61347 AW014086 BC029957 BC043206 AAH43206 BC172751 AAI72751 XM_006723832 XP_006723895 XM_006723833 XP_006723896 NM_020433 NP_065166 NM_175913 NP_787109
|
| Function |
Junctophilins contribute to the formation of junctional membrane complexes (JMCs) which link the plasma membrane with the endoplasmic or sarcoplasmic reticulum in excitable cells. Provides a structural foundation for functional cross-talk between the cell surface and intracellular calcium release channels. JPH2 is necessary for proper intracellular Ca(2+) signaling in cardiac myocytes via its involvement in ryanodine receptor-mediated calcium ion release. Contributes to the construction of skeletal muscle triad junctions. {ECO:0000269|PubMed:20095964}.
|
| Subcellular Location |
Cell membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}. Endoplasmic reticulum membrane {ECO:0000250}; Single-pass type IV membrane protein {ECO:0000250}. Sarcoplasmic reticulum membrane {ECO:0000250}; Single-pass type IV membrane protein {ECO:0000250}. Note=Localized predominantly on the plasma membrane. The transmembrane domain is anchored in endoplasmic/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 (By similarity). {ECO:0000250}.
|
| Tissue Specificity |
Specifically expressed in skeletal muscle and heart. {ECO:0000269|PubMed:10891348}.
|