JPH2

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, Jul 2008]

Description

Junctophilin 2

Tissue specificity

Tissue enhanced (heart muscle, skeletal muscle)

Predicted location

Intracellular, Membrane

Protein family

Disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Potential drug targets
Predicted intracellular proteins
Predicted membrane proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)
Transporters

Chromosome

20 (44106590 - 44187188)

Ensembl ID

ENSG00000149596  (ver. 103.38)

Orthologs

Mouse Jph2: ENSMUSG00000017817

UniProt

Q9BR39

neXtProt

NX_Q9BR39

Human splice variants
Mouse splice variants

Protein structure