| 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}. |
Junctophilin-2 CRISPR/Cas9 KO Plasmid (h) - sc-401805 from Santa Cruz Biotechnology
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Junctophilin-2 HDR Plasmid (h) - sc-401805-HDR from Santa Cruz Biotechnology
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Junctophilin-2 Double Nickase Plasmid (h) - sc-401805-NIC from Santa Cruz Biotechnology
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Junctophilin-2 Double Nickase Plasmid (h2) - sc-401805-NIC-2 from Santa Cruz Biotechnology
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Junctophilin-2 CRISPR Activation Plasmid (h) - sc-401805-ACT from Santa Cruz Biotechnology
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Junctophilin-2 CRISPR Activation Plasmid (h2) - sc-401805-ACT-2 from Santa Cruz Biotechnology
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Junctophilin-2 Lentiviral Activation Particles (h) - sc-401805-LAC from Santa Cruz Biotechnology
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Junctophilin-2 Lentiviral Activation Particles (h2) - sc-401805-LAC-2 from Santa Cruz Biotechnology
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Junctophilin-2 siRNA (h) - sc-72007 from Santa Cruz Biotechnology
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Junctophilin-2 shRNA Plasmid (h) - sc-72007-SH from Santa Cruz Biotechnology
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Junctophilin-2 shRNA (h) Lentiviral Particles - sc-72007-V from Santa Cruz Biotechnology
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MISSION® esiRNA - EHU063731 from Sigma-Aldrich
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CompoZr® Knockout ZFN Kit - CKOZFN10877 from Sigma-Aldrich
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CompoZr® Knockout ZFN Kit, ZFN plasmid only - CKOZFND10877 from Sigma-Aldrich
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MISSION® 3′UTR Lenti GoClone™ - HUTR10435 from Sigma-Aldrich
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JPH2 siRNA (Human) - CRJ1366 from Cohesion Biosciences
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Junctophilin-2 CRISPR/Cas9 KO Plasmid (h2) - sc-401805-KO-2 from Santa Cruz Biotechnology
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Junctophilin-2 HDR Plasmid (h2) - sc-401805-HDR-2 from Santa Cruz Biotechnology
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JPH2, siRNA - MBS8207078 from MyBioSource
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shRNA set against Human JPH2 (NM_175913.3) - SHH322179 from Creative biogene
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shRNA set against Human JPH2(NM_020433.4) - SHL186528 from Creative biogene
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shRNA set against Human JPH2(NM_175913.3) - SHL186592 from Creative biogene
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Human JPH2 siRNA - orb271867 from Biorbyt
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JPH2 shRNA Plasmid (Human) - CHJ1366 from Cohesion Biosciences
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JPH2 miRNA 3'UTR clone - MiUTR1H-05074 from Creative biogene
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