gene 3,521 words KG: JPH2 2026-03-25
kind:genesection:genesstate:published
Contents

JPH2 — Junctophilin 2

🧬 Gene Info
Gene SymbolJPH2
Full NameJunctophilin 2
Chromosome8p21.2
Protein FamilyJunctophilin family (JPH1, JPH2, JPH3, JPH4)
Functionencodes a critical protein that bridges the gap between the endoplasmic reticulum (ER) and the plasma membrane, forming junctional membrane complexes essential for cellular calcium signaling.
Primary Expressionneurons where it plays equally important roles in calcium homeostasis, synaptic function, and neuronal survival
Molecular Weight56 kDa
Amino Acids505 aa
UniProt IDQ9NZM1 (JPH2_HUMAN)
NCBI Gene ID57158
Ensembl IDENSG00000149596
OMIM605193
GeneCardsJPH2
Human Protein AtlasJPH2
Gene NameJunctophilin 2
Associated Diseasesneurodegeneration
DatabasesGeneCardsHPASTRING

Knowledge Graph