JPH3 (junctophilin 3)

2014-08-01  

Identity

HGNC
LOCATION
16q24.2
LOCUSID
ALIAS
CAGL237,HDL2,JP-3,JP3,TNRC22
FUSION GENES

Other Information

Locus ID:

NCBI: 57338
MIM: 605268
HGNC: 14203
Ensembl: ENSG00000154118

Variants:

dbSNP: 57338
ClinVar: 57338
TCGA: ENSG00000154118
COSMIC: JPH3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000154118ENST00000284262Q8WXH2

Expression (GTEx)

0
50
100
150

References

Pubmed IDYearTitleCitations
215550702011An antisense CAG repeat transcript at JPH3 locus mediates expanded polyglutamine protein toxicity in Huntington's disease-like 2 mice.69
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
223679962012Loss of junctophilin-3 contributes to Huntington disease-like 2 pathogenesis.30
128051142003Huntington's disease-like phenotype due to trinucleotide repeat expansions in the TBP and JPH3 genes.27
201983152010Association of genetic variants with hemorrhagic stroke in Japanese individuals.11
260793852015Junctophilin 3 (JPH3) expansion mutations causing Huntington disease like 2 (HDL2) are common in South African patients with African ancestry and a Huntington disease phenotype.10
273367192016Junctophilin 3 expresses in pancreatic beta cells and is required for glucose-stimulated insulin secretion.10
177085692007A South African mixed ancestry family with Huntington disease-like 2: clinical and genetic features.8
188168022008Huntington's disease-like 2 in Brazil--report of 4 patients.8
119144182002CAG/CTG repeat expansions at the Huntington's disease-like 2 locus are rare in Huntington's disease patients.7

Citation

Dessen P

JPH3 (junctophilin 3)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54390/jph3-(junctophilin-3)