JPH2 Chromosome 20

Junctophilin 2
63 variants 63 Health Risk

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What This Gene Does
Junctional complexes between the plasma membrane and endoplasmic/sarcoplasmic reticulum are a common feature of all excitable cell types and mediate cross talk between cell surface and intracellular ion channels. The protein encoded by this gene is a component of junctional complexes and is composed of a C-terminal hydrophobic segment spanning the endoplasmic/sarcoplasmic reticulum membrane and a remaining cytoplasmic domain that shows specific affinity for the plasma membrane. This gene is a member of the junctophilin gene family. Alternative splicing has been observed at this locus and two variants encoding distinct isoforms are described. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Junctophilins
Locus Type
gene with protein product
Location
20q13.12
Ensembl
ENSG00000149596
Associated Conditions (10)
Hypertrophic cardiomyopathy
Cardiovascular phenotype
Cardiomyopathy
dilated
2E
Hypertrophic cardiomyopathy 17
Primary dilated cardiomyopathy
JPH2-related disorder
Primary familial hypertrophic cardiomyopathy
Hypertrophic cardiomyopathy 1
Key Variants
RS1033476644
Conflicting classifications of pathogenicity
Hypertrophic cardiomyopathy, Cardiovascular phenotype, Hypertrophic cardiomyopathy
Health Risk
RS1060499997
Conflicting classifications of pathogenicity
Hypertrophic cardiomyopathy, Cardiovascular phenotype, Hypertrophic cardiomyopathy
Health Risk
RS1158318107
Conflicting classifications of pathogenicity
Hypertrophic cardiomyopathy, Cardiovascular phenotype, Hypertrophic cardiomyopathy
Health Risk
RS1197530646
Conflicting classifications of pathogenicity
Hypertrophic cardiomyopathy, Cardiovascular phenotype, Hypertrophic cardiomyopathy
Health Risk
RS1244082467
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Cardiovascular phenotype
Health Risk
RS1272859605
Conflicting classifications of pathogenicity
Hypertrophic cardiomyopathy, Cardiomyopathy, dilated
Health Risk
RS1296009403
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Primary dilated cardiomyopathy, Cardiovascular phenotype
Health Risk
RS1339089624
Conflicting classifications of pathogenicity
Hypertrophic cardiomyopathy, Cardiovascular phenotype, Hypertrophic cardiomyopathy
Health Risk
RS1376826403
Conflicting classifications of pathogenicity
Hypertrophic cardiomyopathy, Cardiovascular phenotype, Hypertrophic cardiomyopathy
Health Risk
RS1380514288
Conflicting classifications of pathogenicity
Hypertrophic cardiomyopathy, Cardiovascular phenotype, Hypertrophic cardiomyopathy
Health Risk
RS138992849
Conflicting classifications of pathogenicity
Hypertrophic cardiomyopathy, Cardiovascular phenotype, Hypertrophic cardiomyopathy 17
Health Risk
RS140740776
Conflicting classifications of pathogenicity
Hypertrophic cardiomyopathy, Cardiovascular phenotype, Hypertrophic cardiomyopathy
Health Risk
All Variants (63)
RSID Category Clinical Significance Conditions
RS1033476644 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiovascular phenotype, Hypertrophic cardiomyopathy
RS1060499997 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiovascular phenotype, Hypertrophic cardiomyopathy
RS1158318107 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiovascular phenotype, Hypertrophic cardiomyopathy
RS1197530646 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiovascular phenotype, Hypertrophic cardiomyopathy
RS1244082467 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS1272859605 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiomyopathy, dilated
RS1296009403 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Primary dilated cardiomyopathy, Cardiovascular phenotype
RS1339089624 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiovascular phenotype, Hypertrophic cardiomyopathy
RS1376826403 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiovascular phenotype, Hypertrophic cardiomyopathy
RS1380514288 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiovascular phenotype, Hypertrophic cardiomyopathy
RS138992849 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiovascular phenotype, Hypertrophic cardiomyopathy 17
RS140740776 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiovascular phenotype, Hypertrophic cardiomyopathy
RS145401873 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiovascular phenotype, Cardiomyopathy
RS147407445 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Primary familial hypertrophic cardiomyopathy, Cardiovascular phenotype
RS181096982 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiovascular phenotype, Hypertrophic cardiomyopathy
RS200149713 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiovascular phenotype, Cardiomyopathy
RS200356989 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiovascular phenotype, Hypertrophic cardiomyopathy
RS200422043 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiovascular phenotype, Hypertrophic cardiomyopathy 17
RS2072600840 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 17, Hypertrophic cardiomyopathy 17
RS367563723 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 17
RS368290474 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiovascular phenotype, Hypertrophic cardiomyopathy
RS369279135 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiovascular phenotype, Hypertrophic cardiomyopathy
RS371565133 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiovascular phenotype, Hypertrophic cardiomyopathy
RS376612687 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy, Cardiomyopathy
RS387906897 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 17, Hypertrophic cardiomyopathy 1, Cardiovascular phenotype
RS398124358 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 17, Cardiovascular phenotype, Hypertrophic cardiomyopathy
RS531877510 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 17, Cardiovascular phenotype, Hypertrophic cardiomyopathy
RS556546220 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiovascular phenotype, Hypertrophic cardiomyopathy
RS556886570 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy, Cardiomyopathy
RS557878787 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiovascular phenotype, Hypertrophic cardiomyopathy
RS558770240 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 17
RS567872241 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy, Cardiovascular phenotype
RS730880254 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS745760392 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiovascular phenotype, Cardiomyopathy
RS748233107 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiomyopathy, dilated
RS748282723 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy 17, Hypertrophic cardiomyopathy
RS761591158 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiovascular phenotype, Hypertrophic cardiomyopathy 17
RS765754956 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiovascular phenotype, Cardiomyopathy
RS765874503 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS766295044 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiovascular phenotype, Hypertrophic cardiomyopathy
RS766395991 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy, Cardiovascular phenotype
RS766721028 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiomyopathy, dilated
RS767328866 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiovascular phenotype, Hypertrophic cardiomyopathy 17
RS773306912 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy, Cardiovascular phenotype
RS776045429 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 17, Hypertrophic cardiomyopathy, Cardiovascular phenotype
RS777934295 Health Risk Conflicting classifications of pathogenicity Primary familial hypertrophic cardiomyopathy, Cardiovascular phenotype, Primary familial hypertrophic cardiomyopathy
RS779915700 Health Risk Conflicting classifications of pathogenicity JPH2-related disorder, Cardiovascular phenotype, Hypertrophic cardiomyopathy
RS781613132 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiovascular phenotype, Cardiomyopathy
RS908189174 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiovascular phenotype, Hypertrophic cardiomyopathy 17
RS926337524 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy, Cardiovascular phenotype
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