Identity
HGNC
LOCATION
16q24.2
LOCUSID
ALIAS
CAGL237,HDL2,JP-3,JP3,TNRC22
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 57338
MIM: 605268
HGNC: 14203
Ensembl: ENSG00000154118
Variants:
dbSNP: 57338
ClinVar: 57338
TCGA: ENSG00000154118
COSMIC: JPH3
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000154118 | ENST00000284262 | Q8WXH2 |
Expression (GTEx)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36273396 | 2023 | Both Heterozygous and Homozygous Loss-of-Function JPH3 Variants Are Associated with a Paroxysmal Movement Disorder. | 0 |
| 36273396 | 2023 | Both Heterozygous and Homozygous Loss-of-Function JPH3 Variants Are Associated with a Paroxysmal Movement Disorder. | 0 |
| 35089322 | 2022 | Junctophilins 1, 2, and 3 all support voltage-induced Ca2+ release despite considerable divergence. | 7 |
| 35089322 | 2022 | Junctophilins 1, 2, and 3 all support voltage-induced Ca2+ release despite considerable divergence. | 7 |
| 28656064 | 2017 | Epigenomic and Functional Characterization of Junctophilin 3 (JPH3) as a Novel Tumor Suppressor Being Frequently Inactivated by Promoter CpG Methylation in Digestive Cancers. | 10 |
| 28656064 | 2017 | Epigenomic and Functional Characterization of Junctophilin 3 (JPH3) as a Novel Tumor Suppressor Being Frequently Inactivated by Promoter CpG Methylation in Digestive Cancers. | 10 |
| 27336719 | 2016 | Junctophilin 3 expresses in pancreatic beta cells and is required for glucose-stimulated insulin secretion. | 23 |
| 27400454 | 2016 | Expanding the Spectrum of Genes Involved in Huntington Disease Using a Combined Clinical and Genetic Approach. | 21 |
| 27336719 | 2016 | Junctophilin 3 expresses in pancreatic beta cells and is required for glucose-stimulated insulin secretion. | 23 |
| 27400454 | 2016 | Expanding the Spectrum of Genes Involved in Huntington Disease Using a Combined Clinical and Genetic Approach. | 21 |
| 26079385 | 2015 | Junctophilin 3 (JPH3) expansion mutations causing Huntington disease like 2 (HDL2) are common in South African patients with African ancestry and a Huntington disease phenotype. | 15 |
| 26079385 | 2015 | Junctophilin 3 (JPH3) expansion mutations causing Huntington disease like 2 (HDL2) are common in South African patients with African ancestry and a Huntington disease phenotype. | 15 |
| 22367996 | 2012 | Loss of junctophilin-3 contributes to Huntington disease-like 2 pathogenesis. | 49 |
| 22447335 | 2012 | JPH3 repeat expansions cause a progressive akinetic-rigid syndrome with severe dementia and putaminal rim in a five-generation African-American family. | 11 |
| 22367996 | 2012 | Loss of junctophilin-3 contributes to Huntington disease-like 2 pathogenesis. | 49 |
Citation
Dessen P
JPH3 (junctophilin 3)
Atlas Genet Cytogenet Oncol Haematol. 2014-08-01
Online version: http://atlasgeneticsoncology.org/gene/54390/jph3-(junctophilin-3)
