Jph2 - junctophilin 2

Enables DNA-binding transcription repressor activity, RNA polymerase II-specific and core promoter sequence-specific DNA binding activity. Involved in negative regulation of transcription by RNA polymerase II and regulation of cardiac muscle tissue development. Acts upstream of or within positive regulation of cytosolic calcium ion concentration. Located in several cellular components, including Z disc; nucleus; and sarcoplasmic reticulum. Part of junctional membrane complex. Is expressed in heart; lung; skeletal muscle; and stomach. 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]