JPH2

Junctophilin 2, also known as JPH2, is a human gene.cite web | title = Entrez Gene: JPH2 junctophilin 2| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=57158| accessdate = ]

PBB_Summary
section_title =
summary_text = 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.cite web | title = Entrez Gene: JPH2 junctophilin 2| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=57158| accessdate = ]

References

Further reading

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

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