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Gene Family: Junctophilins (JPH)

junctophilins: Junctophilins (JPHs) are members of a junctional membrane complex protein family important for the physical approximation of plasmalemmal and sarcoplasmic/endoplasmic reticulum membranes. As such, JPHs facilitate signal transduction in excitable cells between plasmalemmal voltage-gated calcium channels and intracellular calcium release channels. [Source: Garbino et al, 2009]

Genes contained within the family: 4

Approved Symbol Approved Name Previous Symbols Synonyms Chromosome
JPH1 junctophilin 1 JP-1 8q21.11
JPH2 junctophilin 2 JP-2 20q13.12
JPH3 junctophilin 3 TNRC22 JP-3, CAGL237, HDL2, JP3 16q24.2
JPH4 junctophilin 4 JPHL1 KIAA1831 14q11.2