gene 1,335 words KG: JPH3 2026-03-31
kind:genesection:genesstate:published
Contents

JPH3 Gene

🧬 Gene Info
Gene SymbolJPH3
Full NameJunctophilin 3
Chromosome16q24.3
FunctionJPH3 encodes Junctophilin-3, a membrane protein that plays critical roles in forming and maintaining junctional membrane complexes (JMCs) between the plasma membrane and the endoplasmic reticulum (ER)
Primary Expressionneurons and may protect against excitotoxicity
Molecular Weight75 kDa
UniProt IDQ9Y2W5
NCBI Gene ID57338
Ensembl IDENSG00000125900
OMIM605714
GeneCardsJPH3
Human Protein AtlasJPH3
N-terminal membrane-binding domainAA 1-270
Central alpha-helical domainAA 271-500
C-terminal coiled-coilAA 501-638
Associated Diseasesneurodegeneration
DatabasesGeneCardsHPASTRING

Knowledge Graph