JPH2 Chromosome 20
Junctophilin 2
Upload your DNA to see your personal genotypes for variants in JPH2.
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 |
|---|---|---|---|
| RS938498462 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 17 |
| RS953353202 | Health Risk | Conflicting classifications of pathogenicity | Hypertrophic cardiomyopathy, Cardiovascular phenotype, Hypertrophic cardiomyopathy |
| RS953581894 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Cardiovascular phenotype |
| RS956983036 | Health Risk | Conflicting classifications of pathogenicity | Hypertrophic cardiomyopathy, Cardiovascular phenotype, Hypertrophic cardiomyopathy |
| RS970525996 | Health Risk | Conflicting classifications of pathogenicity | Hypertrophic cardiomyopathy, Cardiovascular phenotype, Cardiomyopathy |
| RS976272461 | Health Risk | Conflicting classifications of pathogenicity | Hypertrophic cardiomyopathy, Cardiovascular phenotype, Hypertrophic cardiomyopathy 17 |
| RS980412081 | Health Risk | Conflicting classifications of pathogenicity | Hypertrophic cardiomyopathy, Cardiovascular phenotype, Hypertrophic cardiomyopathy |
| RS988100071 | Health Risk | Conflicting classifications of pathogenicity | Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy, Cardiovascular phenotype |
| RS754529157 | Health Risk | Likely pathogenic | Hypertrophic cardiomyopathy 17, Hypertrophic cardiomyopathy 17 |
| RS1600482909 | Health Risk | Pathogenic | Hypertrophic cardiomyopathy 17, Hypertrophic cardiomyopathy 17 |
| RS2145838034 | Health Risk | Pathogenic | Cardiomyopathy, dilated, 2E |
| RS387906898 | Health Risk | Pathogenic | Hypertrophic cardiomyopathy 17, Hypertrophic cardiomyopathy 17 |
| RS587782951 | Health Risk | Pathogenic/Likely pathogenic | Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy, Cardiovascular phenotype |