Jph2 - junctophilin 2 Gene

Predicted to enable DNA-binding transcription repressor activity, RNA polymerase II-specific; core promoter sequence-specific DNA binding activity; and phospholipid binding activity. Predicted to be involved in negative regulation of transcription by RNA polymerase II; positive regulation of ryanodine-sensitive calcium-release channel activity; and regulation of cardiac muscle tissue development. Predicted to act upstream of or within positive regulation of cytosolic calcium ion concentration. Predicted to be located in Z disc; membrane; and nucleus. Predicted to be part of junctional membrane complex. Predicted to be active in endoplasmic reticulum membrane; plasma membrane; and sarcoplasmic reticulum. Biomarker of hypertrophic cardiomyopathy. Human ortholog(s) of this gene implicated in dilated cardiomyopathy and hypertrophic cardiomyopathy 17. Orthologous to human JPH2 (junctophilin 2). [provided by Alliance of Genome Resources, Apr 2022]