Entity Details

Primary name JPH2
Entity type gene
Source Source Link

Details

PrimaryID57158
RefseqGeneNG_031867
SymbolJPH2
Namejunctophilin 2
Chromosome20
Location20q13.12
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2000-09-12
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsJPH2_HUMAN

GO terms

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GOName
GO:0000122 negative regulation of transcription by RNA polymerase II
GO:0001046 core promoter sequence-specific DNA binding
GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specific
GO:0001786 phosphatidylserine binding
GO:0003677 DNA binding
GO:0005546 phosphatidylinositol-4,5-bisphosphate binding
GO:0005547 phosphatidylinositol-3,4,5-trisphosphate binding
GO:0005634 nucleus
GO:0005789 endoplasmic reticulum membrane
GO:0005886 plasma membrane
GO:0007275 multicellular organism development
GO:0010314 phosphatidylinositol-5-phosphate binding
GO:0014701 junctional sarcoplasmic reticulum membrane
GO:0016021 integral component of membrane
GO:0016529 sarcoplasmic reticulum
GO:0030018 Z disc
GO:0030314 junctional membrane complex
GO:0032266 phosphatidylinositol-3-phosphate binding
GO:0045892 negative regulation of transcription, DNA-templated
GO:0055024 regulation of cardiac muscle tissue development
GO:0055074 calcium ion homeostasis
GO:0060314 regulation of ryanodine-sensitive calcium-release channel activity
GO:0060316 positive regulation of ryanodine-sensitive calcium-release channel activity
GO:0060402 calcium ion transport into cytosol
GO:0070273 phosphatidylinositol-4-phosphate binding
GO:0070300 phosphatidic acid binding
GO:0080025 phosphatidylinositol-3,5-bisphosphate binding

Diseases

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Disease IDSourceNameDescription
613873 OMIMCardiomyopathy, familial hypertrophic 17 (CMH17)A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death. The disease is caused by variants affecting the gene represented in this entry.