Property Summary

NCBI Gene PubMed Count 31
PubMed Score 31.30
PubTator Score 1294.83

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (11)

Disease log2 FC p
astrocytoma -2.100 2.5e-13
posterior fossa group A ependymoma -5.800 9.3e-22
glioblastoma -4.700 1.1e-05
oligodendroglioma -1.900 3.7e-09
sonic hedgehog group medulloblastoma -3.700 7.0e-07
atypical teratoid / rhabdoid tumor -5.900 2.3e-12
medulloblastoma, large-cell -4.500 2.2e-05
primitive neuroectodermal tumor -4.000 5.0e-04
adult high grade glioma -4.100 9.0e-08
pilocytic astrocytoma -4.300 2.3e-08
subependymal giant cell astrocytoma -3.734 1.9e-02

Gene RIF (16)

PMID Text
26079385 The present study aimed to characterize the genetic basis of the Huntington disease phenotype in South Africans and to investigate the possible origin of the JPH3 mutation.
22447335 JPH3 mutations should be considered in the differential diagnosis of early-onset dementia and hypokinetic-rigid syndromes in individuals of African descent.
22367996 The pathogenic mechanism of Huntington disease-like 2 is multifactorial, involving both a toxic gain of function of JPH3 RNA transcripts and a toxic loss of JPH3 expression in an experimental Huntington disease-like 2 mouse model.
21555070 This study reveled the an antisense CAG repeat transcript at JPH3 locus mediates expanded polyglutamine protein toxicity in Huntington's disease-like 2 mice.
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
20198315 Observational study of gene-disease association. (HuGE Navigator)
19851296 Observational study of gene-disease association. (HuGE Navigator)
19724895 Data revealed that six polymorphisms of F10, PITRM1, PCSK2, JPH3, MYO7B, and AKAP12 were related (P<0.05) to the prevalence of chronic kidney disease.
19724895 Observational study of gene-disease association. (HuGE Navigator)
18816802 HDL2 is caused by a pathological expansion of CAG/CTG triplets in exon 2A of the JPH3 gene.
18651325 244 Patients with the diagnosis of Huntington's Disease and without mutation of the IT15 gene revealed one case of SCA17 but did not disclose the presence of two other diseases with a similar clinical manifestation: DRPLA and HDL2.
17708569 This report on a South African family that presented with progressive dementia and a movement disorder affecting numerous family members. Genotyping of the JPH3 CTG repeat revealed pathogenic expansions in three affected individuals.
16858508 Observational study of genotype prevalence. (HuGE Navigator)
15876586 Observational study of genotype prevalence. (HuGE Navigator)
12805114 Observational study of gene-disease association. (HuGE Navigator)
11914418 CAG/CTG repeat expansions at the Huntington's disease (HD)-like 2 locus have been identified in the gene encoding junctophilin-3 in an HD patient who carried an allele with 50 uninterrupted repeats.

AA Sequence

MSSGGRFNFDDGGSYCGGWEDGKAHGHGVCTGPKGQGEYTGSWSHGFEVLGVYTWPSGNTYQGTWAQGKR      1 - 70
HGIGLESKGKWVYKGEWTHGFKGRYGVRECAGNGAKYEGTWSNGLQDGYGTETYSDGGTYQGQWVGGMRQ     71 - 140
GYGVRQSVPYGMAAVIRSPLRTSINSLRSEHTNGTALHPDASPAVAGSPAVSRGGFVLVAHSDSEILKSK    141 - 210
KKGLFRRSLLSGLKLRKSESKSSLASQRSKQSSFRSEAGMSTVSSTASDIHSTISLGEAEAELAVIEDDI    211 - 280
DATTTETYVGEWKNDKRSGFGVSQRSDGLKYEGEWASNRRHGYGCMTFPDGTKEEGKYKQNILVGGKRKN    281 - 350
LIPLRASKIREKVDRAVEAAERAATIAKQKAEIAASRTSHSRAKAEAALTAAQKAQEEARIARITAKEFS    351 - 420
PSFQHRENGLEYQRPKRQTSCDDIEVLSTGTPLQQESPELYRKGTTPSDLTPDDSPLQSFPTSPAATPPP    421 - 490
APAARNKVAHFSRQVSVDEERGGDIQMLLEGRAGDCARSSWGEEQAGGSRGVRSGALRGGLLVDDFRTRG    491 - 560
SGRKQPGNPKPRERRTESPPVFTWTSHHRASNHSPGGSRLLELQEEKLSNYRMEMKPLLRMETHPQKRRY    561 - 630
SKGGACRGLGDDHRPEDRGFGVQRLRSKAQNKENFRPASSAEPAVQKLASLRLGGAEPRLLRWDLTFSPP    631 - 700
QKSLPVALESDEENGDELKSSTGSAPILVVMVILLNIGVAILFINFFI                          701 - 748
//

Text Mined References (30)

PMID Year Title
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.
26002199 2015 The Repeat Expansion Diseases: The dark side of DNA repair.
24322204 2014 Genome-wide association study of bipolar disorder accounting for effect of body mass index identifies a new risk allele in TCF7L2.
22447335 2012 JPH3 repeat expansions cause a progressive akinetic-rigid syndrome with severe dementia and putaminal rim in a five-generation African-American family.
22367996 2012 Loss of junctophilin-3 contributes to Huntington disease-like 2 pathogenesis.
21697133 2011 Full-length transcriptome analysis of human retina-derived cell lines ARPE-19 and Y79 using the vector-capping method.
21555070 2011 An antisense CAG repeat transcript at JPH3 locus mediates expanded polyglutamine protein toxicity in Huntington's disease-like 2 mice.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
20198315 2010 Association of genetic variants with hemorrhagic stroke in Japanese individuals.
19851296 2010 Assessment of a polymorphism of SDK1 with hypertension in Japanese Individuals.
19724895 2009 Association of gene polymorphisms with chronic kidney disease in Japanese individuals.
19095005 2009 New molecular components supporting ryanodine receptor-mediated Ca(2+) release: roles of junctophilin and TRIC channel in embryonic cardiomyocytes.
18816802 2008 Huntington's disease-like 2 in Brazil--report of 4 patients.
18651325 Searching for mutation in the JPH3, ATN1 and TBP genes in Polish patients suspected of Huntington's disease and without mutation in the IT15 gene.
17708569 2007 A South African mixed ancestry family with Huntington disease-like 2: clinical and genetic features.
17353931 2007 Large-scale mapping of human protein-protein interactions by mass spectrometry.
16858508 2006 Exclusion of mutations in the PRNP, JPH3, TBP, ATN1, CREBBP, POU3F2 and FTL genes as a cause of disease in Portuguese patients with a Huntington-like phenotype.
15876586 2005 JP-3 gene polymorphism in a healthy population of Serbia and Montenegro.
15527767 2004 Proteomics-based identification of proteins interacting with Smad3: SREBP-2 forms a complex with Smad3 and inhibits its transcriptional activity.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
14557581 2003 Huntington's disease--like 2 can present as chorea-acanthocytosis.
12805114 2003 Huntington's disease-like phenotype due to trinucleotide repeat expansions in the TBP and JPH3 genes.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11914418 2002 CAG/CTG repeat expansions at the Huntington's disease-like 2 locus are rare in Huntington's disease patients.
11694876 2001 A repeat expansion in the gene encoding junctophilin-3 is associated with Huntington disease-like 2.
11329013 2001 Creation of genome-wide protein expression libraries using random activation of gene expression.
10949023 2000 Junctophilins: a novel family of junctional membrane complex proteins.
10891348 2000 Characterization of human junctophilin subtype genes.
9225980 1997 cDNAs with long CAG trinucleotide repeats from human brain.