JPH2 (junctophilin 2)

2014-11-01  

Identity

HGNC
LOCATION
20q13.12
LOCUSID
ALIAS
CMH17,JP-2,JP2

Other Information

Locus ID:

NCBI: 57158
MIM: 605267
HGNC: 14202
Ensembl: ENSG00000149596

Variants:

dbSNP: 57158
ClinVar: 57158
TCGA: ENSG00000149596
COSMIC: JPH2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000149596ENST00000342272Q9BR39
ENSG00000149596ENST00000372980Q9BR39

Expression (GTEx)

0
50
100
150

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
213394842011Disrupted junctional membrane complexes and hyperactive ryanodine receptors after acute junctophilin knockdown in mice.106
175096122007Mutations in JPH2-encoded junctophilin-2 associated with hypertrophic cardiomyopathy in humans.79
175096122007Mutations in JPH2-encoded junctophilin-2 associated with hypertrophic cardiomyopathy in humans.79
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
245199272014Microtubule-mediated defects in junctophilin-2 trafficking contribute to myocyte transverse-tubule remodeling and Ca2+ handling dysfunction in heart failure.55
212168342011Junctophilin-2 expression silencing causes cardiocyte hypertrophy and abnormal intracellular calcium-handling.47
231483182013Ca2+-dependent proteolysis of junctophilin-1 and junctophilin-2 in skeletal and cardiac muscle.39
174764572007Mutation of junctophilin type 2 associated with hypertrophic cardiomyopathy.38
174764572007Mutation of junctophilin type 2 associated with hypertrophic cardiomyopathy.38
220209362011Junctophilin 1 and 2 proteins interact with the L-type Ca2+ channel dihydropyridine receptors (DHPRs) in skeletal muscle.30

Citation

Dessen P

JPH2 (junctophilin 2)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/64725/jph2