JPH3

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]

Description

Junctophilin 3

Tissue specificity

Tissue enriched (brain)

Subcell location

Nucleoplasm, Cytosol

Predicted location

Membrane

Protein family

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

Chromosome

16 (87601835 - 87698156)

Ensembl ID

ENSG00000154118  (ver. 103.38)

Orthologs

Mouse Jph3: ENSMUSG00000025318

UniProt

Q8WXH2

neXtProt

NX_Q8WXH2

Human splice variants
Mouse splice variants

Protein structure