JPH2

From Wikipedia, the free encyclopedia

Junctophilin 2

Identifiers

JPH2; JP2; FLJ40969; JP-2

External IDs

OMIM: 605267 MGI: 1891496 HomoloGene: 10714

Gene ontology
Molecular Function:	• protein binding
Cellular Component:	• membrane fraction • microsome • membrane • integral to membrane • sarcoplasmic reticulum • Z disc
Biological Process:	• elevation of cytosolic calcium ion concentration

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

Refseq

NM_020433 (mRNA)
NP_065166 (protein)

NM_021566 (mRNA)
NP_067541 (protein)

Location

Chr 20: 42.17 - 42.25 Mb

Chr 2: 163.03 - 163.09 Mb

Pubmed search

[1]

[2]

Junctophilin 2, also known as JPH2, is a human gene.^[1]

Junctional complexes between the plasma membrane and endoplasmic/sarcoplasmic reticulum are a common feature of all excitable cell types and mediate cross talk between cell surface and intracellular ion channels. The protein encoded by this gene is a component of junctional complexes and is composed of a C-terminal hydrophobic segment spanning the endoplasmic/sarcoplasmic reticulum membrane and a remaining cytoplasmic domain that shows specific affinity for the plasma membrane. This gene is a member of the junctophilin gene family. Alternative splicing has been observed at this locus and two variants encoding distinct isoforms are described.^[1]

[edit] References

^ ^a ^b Entrez Gene: JPH2 junctophilin 2.

[edit] Further reading

Nishi M, Mizushima A, Nakagawara K, Takeshima H (2000). "Characterization of human junctophilin subtype genes.". Biochem. Biophys. Res. Commun. 273 (3): 920–7. doi:10.1006/bbrc.2000.3011. PMID 10891348.
Takeshima H, Komazaki S, Nishi M, et al. (2000). "Junctophilins: a novel family of junctional membrane complex proteins.". Mol. Cell 6 (1): 11–22. PMID 10949023.
Deloukas P, Matthews LH, Ashurst J, et al. (2002). "The DNA sequence and comparative analysis of human chromosome 20.". Nature 414 (6866): 865–71. doi:10.1038/414865a. PMID 11780052.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932.
Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs.". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
Minamisawa S, Oshikawa J, Takeshima H, et al. (2005). "Junctophilin type 2 is associated with caveolin-3 and is down-regulated in the hypertrophic and dilated cardiomyopathies.". Biochem. Biophys. Res. Commun. 325 (3): 852–6. doi:10.1016/j.bbrc.2004.10.107. PMID 15541368.
Kim J, Bhinge AA, Morgan XC, Iyer VR (2005). "Mapping DNA-protein interactions in large genomes by sequence tag analysis of genomic enrichment.". Nat. Methods 2 (1): 47–53. doi:10.1038/nmeth726. PMID 15782160.
Olsen JV, Blagoev B, Gnad F, et al. (2006). "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.". Cell 127 (3): 635–48. doi:10.1016/j.cell.2006.09.026. PMID 17081983.
Matsushita Y, Furukawa T, Kasanuki H, et al. (2007). "Mutation of junctophilin type 2 associated with hypertrophic cardiomyopathy.". J. Hum. Genet. 52 (6): 543–8. doi:10.1007/s10038-007-0149-y. PMID 17476457.
Landstrom AP, Weisleder N, Batalden KB, et al. (2007). "Mutations in JPH2-encoded junctophilin-2 associated with hypertrophic cardiomyopathy in humans.". J. Mol. Cell. Cardiol. 42 (6): 1026–35. doi:10.1016/j.yjmcc.2007.04.006. PMID 17509612.