Property Summary

NCBI Gene PubMed Count 31
Grant Count 16
R01 Count 10
Funding $1,090,050.12
PubMed Score 31.30
PubTator Score 1294.83

Knowledge Summary

Patent

No data available

Expression

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.
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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
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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.
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