junctophilin-2; JP-2; junctophilin type 2 (JPH2, JP2)

Function

• contributes to stabilization of junctional membrane complexes, common to excitable cells
• contributes to construction of skeletal muscle triad junctions
• plays an essential role in heart development (putative)

Structure

• the MORN (membrane occupation & recognition nexus) repeats contribute to the plasma membrane binding, possibly by interacting with phospholipids
• belongs to the junctophilin family
• contains 8 MORN repeats

Compartment

• cell membrane; peripheral membrane protein (putative)
• single-pass type 4 membrane protein (putative)
• endoplasmic reticulum membrane; single-pass type
• sarcoplasmic reticulum membrane
• localized predominantly on the plasma membrane
• the transmembrane domain is anchored in ER/SR membrane
• the N-terminal part associates with the plasma membrane
• in heart cells, it predominantly associates along Z lines within myocytes
• in skeletal muscle, it is specifically localized at the junction of A & I bands (putative)

Alternative splicing

named isoforms=2

Expression

• specifically expressed in skeletal muscle & heart

More general terms

• junctophilin
• phosphoprotein

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=57158
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:57158
• OMIM: https://mirror.omim.org/entry/605267
• UniProt: http://www.uniprot.org/uniprot/Q9BR39.html