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 |