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Mouse Anti-JPH2 Recombinant Antibody (A729) (CBMAB-AP10964LY)


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Summary

Host Animal
Mouse
Specificity
Human, Mouse, Rat
Clone
A729
Antibody Isotype
IgG
Application
IF, IHC, WB

Basic Information

Immunogen
A synthetic peptide of human JPH2
Specificity
Human, Mouse, Rat
Antibody Isotype
IgG
Application Notes
The COA includes recommended starting dilutions, optimal dilutions should be determined by the end user.

Formulations & Storage [For reference only, actual COA shall prevail!]

Format
Liquid
Purity
Affinity purity
Storage
Store at +4°C short term (1-2 weeks). Aliquot and store at -20°C long term. Avoid repeated freezethaw cycles.

Target

Entrez Gene ID
Human57158
Mouse59091
Rat296345
UniProt ID
HumanQ9BR39
MouseQ9ET78
RatQ2PS20
Alternative Names
JP2, JP-2, CMH17
Function
A11416
Biological Process
Calcium ion homeostasisManual Assertion Based On ExperimentIDA:UniProtKB
Calcium ion transport into cytosolManual Assertion Based On ExperimentTAS:BHF-UCL
Negative regulation of transcription by RNA polymerase IIISS:UniProtKB
Negative regulation of transcription, DNA-templatedISS:UniProtKB
Positive regulation of ryanodine-sensitive calcium-release channel activityManual Assertion Based On ExperimentIDA:UniProtKB
Regulation of cardiac muscle tissue developmentIEA:Ensembl
Regulation of ryanodine-sensitive calcium-release channel activityManual Assertion Based On ExperimentTAS:BHF-UCL
Cellular Location
Junctophilin-2: Cell membrane; Sarcoplasmic reticulum membrane; Endoplasmic reticulum membrane. 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.
Involvement in disease
Cardiomyopathy, familial hypertrophic 17 (CMH17):
A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death.
Topology
Cytoplasmic: 1-674
Helical: 675-695
PTM
Phosphorylation on Ser-165, probably by PKC, affects RYR1-mediated calcium ion release, interaction with TRPC3, and skeletal muscle myotubule development.
Proteolytically cleaved by calpain in response to cardiac stress. The major cleavage site takes place at the C-terminus and leads to the release of the Junctophilin-2 N-terminal fragment chain (JP2NT).
More Infomation

Parker, L. E., Kramer, R. J., Kaplan, S., & Landstrom, A. P. (2023). One gene, two modes of inheritance, four diseases: A systematic review of the cardiac manifestation of pathogenic variants in JPH2-encoded junctophilin-2. Trends in Cardiovascular Medicine, 33(1), 1-10.

Luo, T., Yan, N., Xu, M., Dong, F., Liang, Q., Xing, Y., & Fan, H. (2022). Junctophilin-2 allosterically interacts with ryanodine receptor type 2 to regulate calcium release units in mouse cardiomyocytes. General Physiology & Biophysics, 41(2).

Gross, P., Johnson, J., Romero, C. M., Eaton, D. M., Poulet, C., Sanchez-Alonso, J., ... & Houser, S. R. (2021). Interaction of the joining region in junctophilin-2 with the L-type Ca2+ channel is pivotal for cardiac dyad assembly and intracellular Ca2+ dynamics. Circulation research, 128(1), 92-114.

Poulet, C., Sanchez-Alonso, J., Swiatlowska, P., Mouy, F., Lucarelli, C., Alvarez-Laviada, A., ... & Gorelik, J. (2021). Junctophilin-2 tethers T-tubules and recruits functional L-type calcium channels to lipid rafts in adult cardiomyocytes. Cardiovascular research, 117(1), 149-161.

Jiang, M., Hu, J., White, F. K., Williamson, J., Klymchenko, A. S., Murthy, A., ... & Tseng, G. N. (2019). S-Palmitoylation of junctophilin-2 is critical for its role in tethering the sarcoplasmic reticulum to the plasma membrane. Journal of Biological Chemistry, 294(36), 13487-13501.

Jones, E. G., Mazaheri, N., Maroofian, R., Zamani, M., Seifi, T., Sedaghat, A., ... & Landstrom, A. P. (2019). Analysis of enriched rare variants in JPH2-encoded junctophilin-2 among Greater Middle Eastern individuals reveals a novel homozygous variant associated with neonatal dilated cardiomyopathy. Scientific reports, 9(1), 9038.

Vanninen, S. U., Leivo, K., Seppälä, E. H., Aalto-Setälä, K., Pitkänen, O., Suursalmi, P., ... & Koskenvuo, J. W. (2018). Heterozygous junctophilin-2 (JPH2) p.(Thr161Lys) is a monogenic cause for HCM with heart failure. PLoS One, 13(9), e0203422.

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For research use only. Not intended for any clinical use.

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