| Gene Information | |
|---|---|
| Gene Name | JPH2 |
| Organism | Homo sapiens (Human) |
| Gene Length | 696 |
| Protein Names | Junctophilin-2 (JP-2) (Junctophilin type 2) [Cleaved into: Junctophilin-2 N-terminal fragment (JP2NT)] |
| Target Name | NA |
| Target Type | NA |
| Gene Age | 680 ( ENSG00000149596 ) |
| Evolutionary Stage | Eumetazoa |
| AlphaFoldDB | Q9BR39 |
| Gene Card | JPH2 |
| Uniprot ID | Q9BR39 |
| Pfam | PF02493 |
| In ASD | no |
| Allosteric Prediction | yes (0.52549385) |
| Ortholog in Animals | Alpaca_ JPH2 ( ortholog_one2one ) Dog_ JPH2 ( ortholog_one2one ) GuineaPig_ JPH2 ( ortholog_one2one ) Macaque_ JPH2 ( ortholog_one2one ) Mouse_ Jph2 ( ortholog_one2one ) Rat_ Jph2 ( ortholog_one2one ) |
| Ohnologs | JPH4, JPH1, JPH3 |
| Paralogs | JPH3, JPH1, JPH4 |
| Tissue | heart, sigmoid.colon |
| Tissue Specificity | Specifically expressed in skeletal muscle and heart. {ECO:0000269|PubMed:10891348}. |
| Pharmacological Animal Models | NA |
| Gene Ontology (biological process) |
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| Gene Ontology (cellular component) |
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| Gene Ontology (molecular function) |
|
| PDB | 7RXE (X-ray 2.35A ) 7RXQ (X-ray 2.03A ) |
| DBSNP | rs1600482909 rs387906897 rs587782951 rs387906898 rs3810510 rs557878787 rs199896820 rs1326977511 rs140740776 |
| Subcellular location [CC] | [Junctophilin-2]: Cell membrane {ECO:0000250|UniProtKB:Q9ET78}; Peripheral membrane protein {ECO:0000250|UniProtKB:Q9ET78}. Sarcoplasmic reticulum membrane {ECO:0000250|UniProtKB:Q9ET78}; Single-pass type IV membrane protein {ECO:0000250|UniProtKB:Q9ET78}. Endoplasmic reticulum membrane {ECO:0000250|UniProtKB:Q9ET78}; Single-pass type IV membrane protein {ECO:0000250|UniProtKB:Q9ET78}. Note=The transmembrane domain is anchored in sarcoplasmic reticulum membrane, while 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 and I bands. {ECO:0000250|UniProtKB:Q9ET78}.; [Junctophilin-2 N-terminal fragment]: Nucleus {ECO:0000269|PubMed:30409805}. Note=Accumulates in the nucleus of stressed hearts. {ECO:0000250|UniProtKB:Q9ET78}. |
| Mouse PG classification | HPG |
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