JPH1 (junctophilin 1)

2014-11-01  

Identity

HGNC
LOCATION
8q21.11
LOCUSID
ALIAS
CMT2K,JP-1,JP1

Other Information

Locus ID:

NCBI: 56704
MIM: 605266
HGNC: 14201
Ensembl: ENSG00000104369

Variants:

dbSNP: 56704
ClinVar: 56704
TCGA: ENSG00000104369
COSMIC: JPH1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000104369ENST00000342232Q9HDC5
ENSG00000104369ENST00000519947E5RHU9

Expression (GTEx)

0
50
100
150

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
231483182013Ca2+-dependent proteolysis of junctophilin-1 and junctophilin-2 in skeletal and cardiac muscle.39
220209362011Junctophilin 1 and 2 proteins interact with the L-type Ca2+ channel dihydropyridine receptors (DHPRs) in skeletal muscle.30
251683842015Junctophilin-1 is a modifier gene of GDAP1-related Charcot-Marie-Tooth disease.12
249540852014Novel genetic variants modify the effect of smoking on carotid plaque burden in Hispanics.7
308045912019Association of SNP in JPH1 gene with severity of disease in Charcot Marie Tooth 2K patients.0

Citation

Dessen P

JPH1 (junctophilin 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/64724/jph1