Aliases for JPH3 Gene
External Ids for JPH3 Gene
Previous HGNC Symbols for JPH3 Gene
Previous GeneCards Identifiers for JPH3 Gene
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. CAG/CTG repeat expansion from normally 6-28 repeats to 40-59 repeats in the 3' UTR of this gene have been associated with Huntington disease-like 2 (HDL2). This gene is a member of the junctophilin gene family. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Jul 2016]
GeneCards Summary for JPH3 Gene
JPH3 (Junctophilin 3) is a Protein Coding gene. Diseases associated with JPH3 include Huntington Disease-Like 2 and Huntington Disease. GO annotations related to this gene include calcium-release channel activity. An important paralog of this gene is JPH1.
UniProtKB/Swiss-Prot for JPH3 Gene
Junctophilins contribute to the formation of junctional membrane complexes (JMCs) which link the plasma membrane with the endoplasmic or sarcoplasmic reticulum in excitable cells. Provides a structural foundation for functional cross-talk between the cell surface and intracellular calcium release channels. JPH3 is brain-specific and appears to have an active role in certain neurons involved in motor coordination and memory.