Entrez gene ID | | 57158 |
Official gene symbol | | JPH2 |
Full name | | junctophilin 2 |
Aliases | | ,FLJ40969,JP-2,JP2, |
Gene summary | | 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. This gene is a member of the junctophilin gene family. Alternative splicing has been observed at this locus and two variants encoding distinct isoforms are described. [provided by RefSeq] |
Location | | Chromosome: 20 Locus: 20q13.12 |
Gene position | | 42816218 - 42740337 Map Viewer |
Gene orientation | | minus |
Gene size | | 75882 bp |
Gene sequence |
| |
OMIM ID | | 605267 |
|