Gene Symbol | JPH2 |
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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}. |
Junctophilin-2 (A-1) - sc-398290 from Santa Cruz Biotechnology
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Junctophilin-2 (B-6) - sc-398125 from Santa Cruz Biotechnology
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Junctophilin-2 (D-11) - sc-398457 from Santa Cruz Biotechnology
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Junctophilin-2 (H-3) - sc-377086 from Santa Cruz Biotechnology
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Junctophilin-2 (H-250) - sc-134875 from Santa Cruz Biotechnology
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Junctophilin-2 (Y-15) - sc-51313 from Santa Cruz Biotechnology
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Junctophilin-2 (S-14) - sc-51311 from Santa Cruz Biotechnology
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Anti-Junctophilin-2 antibody - ab79071 from Abcam
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Anti-Junctophilin-2 antibody - ab110056 from Abcam
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Anti-Junctophilin-2 antibody - ab116136 from Abcam
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Anti-Junctophilin-2 antibody - ab116077 from Abcam
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Anti-Junctophilin-2 antibody [1F5] - ab180362 from Abcam
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Anti-Junctophilin 2 / JPH2 Antibody (aa614-643, AP) - LS-C215328 from LifeSpan Bioscience
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Anti-Junctophilin 2 / JPH2 Antibody (aa614-643, APC) - LS-C215329 from LifeSpan Bioscience
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Anti-Junctophilin 2 / JPH2 Antibody (aa614-643, Biotin) - LS-C215330 from LifeSpan Bioscience
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Anti-Junctophilin 2 / JPH2 Antibody (aa614-643, FITC) - LS-C215331 from LifeSpan Bioscience
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Anti-Junctophilin 2 / JPH2 Antibody (aa614-643, Azide-free, HRP) - LS-C215332 from LifeSpan Bioscience
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Anti-Junctophilin 2 / JPH2 Antibody (C-Terminus) - LS-C82883 from LifeSpan Bioscience
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Anti-Junctophilin 2 / JPH2 Antibody (aa613-643) - LS-C322336 from LifeSpan Bioscience
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Anti-Junctophilin 2 / JPH2 Antibody (aa614-643, PE) - LS-C215333 from LifeSpan Bioscience
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Anti-Junctophilin 2 / JPH2 Antibody (aa408-457) - LS-C81642 from LifeSpan Bioscience
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Anti-Junctophilin 2 / JPH2 Antibody (aa614-643) - LS-C165372 from LifeSpan Bioscience
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Anti-Junctophilin 2 / JPH2 Antibody (clone 1E1) - LS-C338295 from LifeSpan Bioscience
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Anti-Junctophilin 2 / JPH2 Antibody (clone 2E5) - LS-C338296 from LifeSpan Bioscience
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Anti-Junctophilin 2 / JPH2 Antibody (clone 2D3) - LS-C338322 from LifeSpan Bioscience
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