Property Summary

NCBI Gene PubMed Count 21
PubMed Score 149.47
PubTator Score 20.91

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (8)

Disease log2 FC p
malignant mesothelioma 1.500 3.4e-06
osteosarcoma 1.217 2.8e-02
cystic fibrosis -1.175 1.5e-04
medulloblastoma, large-cell 1.200 2.2e-04
adult high grade glioma 1.200 9.0e-04
Breast cancer 1.100 2.7e-02
ovarian cancer 1.300 8.5e-12
psoriasis -1.700 9.0e-67

Gene RIF (14)

PMID Text
26063807 Junctophilin-2 is cleaved by calpain at multiple sites, resulting in dysfunctional junctophilin-2 truncations.
24519927 Our data identify a mechanistic link between microtubule densification and T-tubule remodeling and reveal microtubule-mediated JP2 redistribution as a novel mechanism for T-tubule disruption, loss of excitation-contraction coupling, and heart failure.
24001019 The S101R mutation may have an effect upon the stability of the JP2 dyad organization with the potential to alter JP2-protein interactions regulating calcium cycling.
23148318 This study demonstrates that both JP1 and JP2 in skeletal muscle undergo Ca2+-dependent proteolysis by endogenous proteases when the intracellular Ca2+ is raised within the physiological range for a sustained period
22389502 Hypertrophy in skeletal myotubes induced by junctophilin-2 mutant, Y141H, involves an increase in store-operated Ca2+ entry via Orai1.
22020936 JP1 and JP2 can facilitate the assembly of DHPR with other proteins of the excitation-contraction coupling machinery
21339484 Loss-of-function mutations in JPH2 leads to cardiac-specific JPH2 deficiency and results in impaired cardiac contractility, causing heart failure and increased mortality.
21216834 JPH2 levels are reduced in patients with hypertrophic cardiomyopathy. Reduced JPH2 expression results in reduced excitation-contraction coupling gain as well as altered Ca(2+) homeostasis, which may be associated with prohypertrophic remodeling.
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
20095964 S165F mutation of junctophilin 2 affects Ca2+ signalling in skeletal muscle.
17509612 Observational study of gene-disease association. (HuGE Navigator)
17509612 Mutations in JPH2-encoded junctophilin-2 associated with hypertrophic cardiomyopathy.
17476457 Observational study of gene-disease association. (HuGE Navigator)
17476457 this is the first report on JPH2 mutation associated with hypertrophic cardiomyopathy

AA Sequence

MSGGRFDFDDGGAYCGGWEGGKAHGHGLCTGPKGQGEYSGSWNFGFEVAGVYTWPSGNTFEGYWSQGKRH      1 - 70
GLGIETKGRWLYKGEWTHGFKGRYGIRQSSSSGAKYEGTWNNGLQDGYGTETYADGGTYQGQFTNGMRHG     71 - 140
YGVRQSVPYGMAVVVRSPLRTSLSSLRSEHSNGTVAPDSPASPASDGPALPSPAIPRGGFALSLLANAEA    141 - 210
AARAPKGGGLFQRGALLGKLRRAESRTSVGSQRSRVSFLKSDLSSGASDAASTASLGEAAEGADEAAPFE    211 - 280
ADIDATTTETYMGEWKNDKRSGFGVSERSSGLRYEGEWLDNLRHGYGCTTLPDGHREEGKYRHNVLVKDT    281 - 350
KRRMLQLKSNKVRQKVEHSVEGAQRAAAIARQKAEIAASRTSHAKAKAEAAEQAALAANQESNIARTLAR    351 - 420
ELAPDFYQPGPEYQKRRLLQEILENSESLLEPPDRGAGAAGLPQPPRESPQLHERETPRPEGGSPSPAGT    421 - 490
PPQPKRPRPGVSKDGLLSPGAWNGEPSGEGSRSVTPSEGAGRRSPARPATERMAIEALQAPPAPSREPEV    491 - 560
ALYQGYHSYAVRTTPPEPPPFEDQPEPEVSGSESAPSSPATAPLQAPTLRGPEPARETPAKLEPKPIIPK    561 - 630
AEPRAKARKTEARGLTKAGAKKKARKEAALAAEAEVEVEEVPNTILICMVILLNIGLAILFVHLLT        631 - 696
//

Text Mined References (23)

PMID Year Title
26063807 2015 Molecular Determinants of Calpain-dependent Cleavage of Junctophilin-2 Protein in Cardiomyocytes.
25187353 2014 Clozapine-induced agranulocytosis is associated with rare HLA-DQB1 and HLA-B alleles.
24519927 2014 Microtubule-mediated defects in junctophilin-2 trafficking contribute to myocyte transverse-tubule remodeling and Ca2+ handling dysfunction in heart failure.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
24001019 2013 Human junctophilin-2 undergoes a structural rearrangement upon binding PtdIns(3,4,5)P3 and the S101R mutation identified in hypertrophic cardiomyopathy obviates this response.
23148318 2013 Ca2+-dependent proteolysis of junctophilin-1 and junctophilin-2 in skeletal and cardiac muscle.
22389502 2012 Hypertrophy in skeletal myotubes induced by junctophilin-2 mutant, Y141H, involves an increase in store-operated Ca2+ entry via Orai1.
22020936 2011 Junctophilin 1 and 2 proteins interact with the L-type Ca2+ channel dihydropyridine receptors (DHPRs) in skeletal muscle.
21339484 2011 Disrupted junctional membrane complexes and hyperactive ryanodine receptors after acute junctophilin knockdown in mice.
21216834 2011 Junctophilin-2 expression silencing causes cardiocyte hypertrophy and abnormal intracellular calcium-handling.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
20095964 2010 S165F mutation of junctophilin 2 affects Ca2+ signalling in skeletal muscle.
19095005 2009 New molecular components supporting ryanodine receptor-mediated Ca(2+) release: roles of junctophilin and TRIC channel in embryonic cardiomyocytes.
18669648 2008 A quantitative atlas of mitotic phosphorylation.
17509612 2007 Mutations in JPH2-encoded junctophilin-2 associated with hypertrophic cardiomyopathy in humans.
17476457 2007 Mutation of junctophilin type 2 associated with hypertrophic cardiomyopathy.
17081983 2006 Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.
15541368 2004 Junctophilin type 2 is associated with caveolin-3 and is down-regulated in the hypertrophic and dilated cardiomyopathies.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11780052 2001 The DNA sequence and comparative analysis of human chromosome 20.
10949023 2000 Junctophilins: a novel family of junctional membrane complex proteins.
10891348 2000 Characterization of human junctophilin subtype genes.