| Symbol: Name: ID: |
JPH2 junctophilin 2 GFS:3584 |
| Gene name: | JPH2 |
| Chromosome: | 20q12-q13.11 |
| Previous Symbols: | |
| Previous Names: | |
| Aliases: | JP-2 |
| Name Aliases: | |
| Locus Type: | gene with protein product |
| Mouse Genome Database ID: | MGI:1891496 | Rat Genome Database ID: | RGD:1305196 |
| HGNC ID: | HGNC:14202 | RefSeq IDs: | NM_020433 |
| Entrez Gene ID: | 57158 | Ensembl Gene ID: | ENSG00000149596 |
| VEGA IDs: | OTTHUMG00000033037 | UniProt ID: | Q9BR39 |
| UCSC ID: | uc002xli.1 | OMIM ID: | 605267 |
| Pubmed: | PMID10891348 PMID 10949023 | ||
| CCDS IDs: | CCDSCCDS13325.1 CCDS CCDS13326.1 | ||
Junctophilin 2, also known as JPH2, is a protein which in humans is encoded by the JPH2 gene.
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].
Function: Contributes to the stabilization of the junctional membrane complexes, which are common to excitable cells and mediate cross-talk between cell surface and intracellular ion channels. Probably acts by anchoring the plasma membrane and endoplasmic/sarcoplasmic reticulum. Contributes to the construction of skeletal muscle triad junctions, and plays an essential role in heart development (By similarity).
Products for JPH2 gene
| Catalog | Product Name | Application | Company |
| GFS:E03584 | junctophilin 2; ELISA kit | ELISA | n/a |
| GFS:A03584 | junctophilin 2; Anti | ANTIBODIES | n/a |
| GFS:P03584 | junctophilin 2; Protien | Protien | n/a |